LFS2
MCID: LFR007
MIFTS: 41

Li-Fraumeni Syndrome 2 (LFS2)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Li-Fraumeni Syndrome 2

MalaCards integrated aliases for Li-Fraumeni Syndrome 2:

Name: Li-Fraumeni Syndrome 2 57 74 29 6 72
Li-Fraumeni Syndrome 57 72
Lfs2 57 74
Li-Fraumeni Syndrome, Type 2 40

Characteristics:

HPO:

32
li-fraumeni syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MedGen 42 C1836482
UMLS 72 C0085390 C1836482

Summaries for Li-Fraumeni Syndrome 2

UniProtKB/Swiss-Prot : 74 Li-Fraumeni syndrome 2: A highly penetrant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed (PubMed:8118819 and PubMed:8718514) and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers.

MalaCards based summary : Li-Fraumeni Syndrome 2, also known as li-fraumeni syndrome, is related to li-fraumeni syndrome and adrenocortical carcinoma, hereditary. An important gene associated with Li-Fraumeni Syndrome 2 is CHEK2 (Checkpoint Kinase 2). The drugs Cetuximab and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and brain, and related phenotypes are sarcoma and glioma

More information from OMIM: 609265 PS151623

Related Diseases for Li-Fraumeni Syndrome 2

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 2

Diseases related to Li-Fraumeni Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 164, show less)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 13.3
2 adrenocortical carcinoma, hereditary 12.0
3 gastric cancer 12.0
4 soft tissue sarcoma 11.8
5 medulloblastoma 11.8
6 glioblastoma 11.8
7 adrenal carcinoma 11.8
8 pilocytic astrocytoma 11.5
9 osteogenic sarcoma 10.8
10 adrenal cortical carcinoma 10.8
11 adrenal cortical adenocarcinoma 10.8
12 rhabdomyosarcoma 10.7
13 choroid plexus cancer 10.7
14 leiomyosarcoma 10.6
15 brain cancer 10.6
16 liposarcoma 10.6
17 bilateral breast cancer 10.6
18 leukemia 10.5
19 breast cancer 10.5
20 colorectal cancer 10.5
21 lymphocytic leukemia 10.5
22 sarcoma 10.5
23 lung cancer susceptibility 3 10.5
24 myelodysplastic syndrome 10.5
25 adenocarcinoma 10.5
26 glioblastoma multiforme 10.5
27 spindle cell sarcoma 10.5
28 thyroid carcinoma 10.5
29 leukemia, acute lymphoblastic 10.4
30 breast sarcoma 10.4
31 astrocytoma 10.4
32 embryonal rhabdomyosarcoma 10.4
33 gastric cancer, hereditary diffuse 10.4
34 ovarian cancer 10.4
35 prostate cancer 10.4
36 leukemia, acute myeloid 10.4
37 accelerated tumor formation 10.4
38 angiosarcoma 10.4
39 familial adenomatous polyposis 10.4
40 melanoma 10.4
41 lynch syndrome 10.4
42 myeloid leukemia 10.4
43 hepatocellular carcinoma 10.3
44 renal cell carcinoma, nonpapillary 10.3
45 von hippel-lindau syndrome 10.3
46 ataxia-telangiectasia 10.3
47 lung cancer 10.3
48 papilloma of choroid plexus 10.3
49 xeroderma pigmentosum, variant type 10.3
50 ataxia and polyneuropathy, adult-onset 10.3
51 wilms tumor 5 10.3
52 meningioma, radiation-induced 10.3
53 meningioma, familial 10.3
54 myxoid liposarcoma 10.3
55 tumor predisposition syndrome 10.3
56 anaplastic large cell lymphoma 10.3
57 spinal meningioma 10.3
58 acute leukemia 10.3
59 telangiectasis 10.3
60 squamous cell papilloma 10.3
61 breast fibroadenoma 10.3
62 malignant fibroxanthoma 10.3
63 papilloma 10.3
64 histiocytoma 10.3
65 fibrous histiocytoma 10.3
66 secretory meningioma 10.3
67 lymphoplasmacyte-rich meningioma 10.3
68 benign ependymoma 10.3
69 hereditary breast ovarian cancer syndrome 10.3
70 in situ carcinoma 10.3
71 diffuse gastric cancer 10.3
72 ependymoma 10.3
73 undifferentiated pleomorphic sarcoma 10.3
74 bone sarcoma 10.3
75 leiomyoma, uterine 10.1
76 leukemia, chronic lymphocytic 10.1
77 melanoma, cutaneous malignant 1 10.1
78 retinoblastoma 10.1
79 thyroid cancer, nonmedullary, 1 10.1
80 suppressor of tumorigenicity 3 10.1
81 autism 10.1
82 lymphoma, hodgkin, classic 10.1
83 neuroblastoma 1 10.1
84 pleuropulmonary blastoma 10.1
85 rhabdoid tumor predisposition syndrome 1 10.1
86 chromosome 17p13.1 deletion syndrome 10.1
87 alacrima, achalasia, and mental retardation syndrome 10.1
88 small cell carcinoma 10.1
89 paraganglioma 10.1
90 adrenal cortical adenoma 10.1
91 inflammatory myofibroblastic tumor 10.1
92 gastrointestinal carcinoma 10.1
93 mucosal melanoma 10.1
94 autism spectrum disorder 10.1
95 lymphoma 10.1
96 ductal carcinoma in situ 10.1
97 uv-sensitive syndrome 10.1
98 spitzoid melanoma 10.1
99 myxofibrosarcoma 10.1
100 microinvasive gastric cancer 10.1
101 nasal cavity cancer 10.1
102 pancytopenia 10.1
103 leiomyoma 10.1
104 benign breast phyllodes tumor 10.1
105 peritoneal mesothelioma 10.1
106 bone cancer 10.1
107 fallopian tube carcinoma 10.1
108 rectum cancer 10.1
109 rectum adenocarcinoma 10.1
110 hyperostosis 10.1
111 myeloproliferative neoplasm 10.1
112 colon adenocarcinoma 10.1
113 kidney cancer 10.1
114 benign mesothelioma 10.1
115 dyskeratosis congenita 10.1
116 laryngeal squamous cell carcinoma 10.1
117 cockayne syndrome 10.1
118 gliosarcoma 10.1
119 gastrointestinal system cancer 10.1
120 oligodendroglioma 10.1
121 embryonal carcinoma 10.1
122 angiomyolipoma 10.1
123 mesenchymal cell neoplasm 10.1
124 fibrosarcoma 10.1
125 multifocal osteogenic sarcoma 10.1
126 skin carcinoma 10.1
127 rhabdoid cancer 10.1
128 lung benign neoplasm 10.1
129 gastric adenocarcinoma 10.1
130 thyroid gland papillary carcinoma 10.1
131 pancreatic adenocarcinoma 10.1
132 seminoma 10.1
133 mucoepidermoid carcinoma 10.1
134 benign meningioma 10.1
135 familial retinoblastoma 10.1
136 embryoma 10.1
137 myelodysplastic/myeloproliferative neoplasm 10.1
138 myxopapillary ependymoma 10.1
139 lung leiomyosarcoma 10.1
140 cutaneous leiomyosarcoma 10.1
141 pleomorphic carcinoma 10.1
142 well-differentiated liposarcoma 10.1
143 pleomorphic liposarcoma 10.1
144 ovarian small cell carcinoma 10.1
145 eyelid carcinoma 10.1
146 cowden syndrome 10.1
147 adenoma 10.1
148 malignant triton tumor 10.1
149 b-cell lymphoma 10.1
150 skin melanoma 10.1
151 pulmonary embolism 10.1
152 hypereosinophilic syndrome 10.1
153 wilms tumor predisposition 10.1
154 anaplastic ependymoma 10.1
155 anaplastic oligodendroglioma 10.1
156 brca2 hereditary breast and ovarian cancer syndrome 10.1
157 leukemia, b-cell, chronic 10.1
158 oral cancer 10.1
159 radiation induced cancer 10.1
160 retroperitoneal liposarcoma 10.1
161 spitz nevus 10.1
162 malignant peritoneal mesothelioma 10.1
163 nodular lymphocyte predominant hodgkin lymphoma 10.1
164 polyploidy 10.1

Graphical network of the top 20 diseases related to Li-Fraumeni Syndrome 2:



Diseases related to Li-Fraumeni Syndrome 2

Symptoms & Phenotypes for Li-Fraumeni Syndrome 2

Human phenotypes related to Li-Fraumeni Syndrome 2:

32 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 sarcoma 32 HP:0100242
2 glioma 32 HP:0009733
3 breast carcinoma 32 HP:0003002
4 meningioma 32 HP:0002858
5 stomach cancer 32 HP:0012126

Clinical features from OMIM:

609265

Drugs & Therapeutics for Li-Fraumeni Syndrome 2

Drugs for Li-Fraumeni Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 24, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
2
tannic acid Approved Phase 1, Phase 2 1401-55-4
3
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
4
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
6
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
7 Antineoplastic Agents, Immunological Phase 2
8 Micronutrients Phase 1, Phase 2
9 Trace Elements Phase 1, Phase 2
10 Lipid Regulating Agents Phase 1, Phase 2
11 Vitamins Phase 1, Phase 2
12 Folate Phase 1, Phase 2
13 Vitamin B9 Phase 1, Phase 2
14 Vitamin B3 Phase 1, Phase 2
15 Vitamin B Complex Phase 1, Phase 2
16 Nutrients Phase 1, Phase 2
17 Nicotinic Acids Phase 1, Phase 2
18 Hypolipidemic Agents Phase 1, Phase 2
19 Vasodilator Agents Phase 1, Phase 2
20 Antimetabolites Phase 1, Phase 2
21
Phosphocreatine Nutraceutical Phase 1, Phase 2 67-07-2 587
22
Metformin Approved Phase 1 657-24-9 4091 14219
23 Hypoglycemic Agents Phase 1
24 Anesthetics

Interventional clinical trials:

(showing 16, show less)
# Name Status NCT ID Phase Drugs
1 LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome) Unknown status NCT01464086 Phase 3
2 Phase II Trial of Cetuximab in Patients With Metastatic and/or Locally Advanced Soft Tissue and Bony Sarcomas Completed NCT00148109 Phase 2 Cetuximab;Cetuximab
3 Exploratory Study of Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome Recruiting NCT03789175 Phase 1, Phase 2
4 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome Completed NCT01981525 Phase 1 Metformin
5 Biomarker Monitoring for a Young Individual Carrying a TP53 Gene Mutation in a Familial High-Cancer Predisposition Setting Unknown status NCT02289326
6 Magnetic Resonance Imaging Screening In Li Fraumeni Syndrome: An Exploratory Whole Body MRI Study Completed NCT01737255
7 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222
8 Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes Recruiting NCT02950987
9 Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome Recruiting NCT01443468
10 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
11 Cardiovascular Disease Discovery Protocol Recruiting NCT01143454
12 International Pediatric Adrenocortical Tumor Registry Recruiting NCT00700414
13 Natural History and Biospecimen Acquisition Study for Children and Adults With Rare Solid Tumors Recruiting NCT03739827
14 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
15 Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot Study. Enrolling by invitation NCT03176836
16 Metabolic Regulation by Tumor Suppressor p53 in Li-Fraumeni Syndrome Enrolling by invitation NCT00406445

Search NIH Clinical Center for Li-Fraumeni Syndrome 2

Genetic Tests for Li-Fraumeni Syndrome 2

Genetic tests related to Li-Fraumeni Syndrome 2:

# Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 2 29 CHEK2

Anatomical Context for Li-Fraumeni Syndrome 2

MalaCards organs/tissues related to Li-Fraumeni Syndrome 2:

41
Breast, Bone, Brain, Testes, Lung, Skin, Myeloid

Publications for Li-Fraumeni Syndrome 2

Articles related to Li-Fraumeni Syndrome 2:

(showing 983, show less)
# Title Authors PMID Year
1
p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. 38 8 71
11479205 2001
2
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 38 8 71
10617473 1999
3
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 38 71
12094328 2002
4
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 38 71
11719428 2001
5
Li-Fraumeni Syndrome 38 71
20301488 1999
6
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 71
24493721 2014
7
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 71
17392385 2007
8
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. 71
17085682 2006
9
CHEK2 I157T associates with familial and sporadic colorectal cancer. 71
16816021 2006
10
Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. 71
16257342 2005
11
CHEK2 is a multiorgan cancer susceptibility gene. 71
15492928 2004
12
Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. 71
15466005 2004
13
CHEK2 variant I157T may be associated with increased breast cancer risk. 71
15239132 2004
14
CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. 71
15122511 2004
15
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. 71
12690581 2003
16
Mutations in CHEK2 associated with prostate cancer risk. 71
12533788 2003
17
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 71
11967536 2002
18
Functional characterization of novel germline TP53 variants in Swedish families. 38
31081129 2019
19
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion. 38
30886117 2019
20
Head and neck pleomorphic myxoid liposarcoma in a child with Li-Fraumeni syndrome. 38
31129458 2019
21
A rare case of multiple cutaneous melanomas in Li-Fraumeni syndrome: A coincidental association or a component of the syndrome? 38
30809791 2019
22
Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome. 38
31212162 2019
23
Composite Adrenocortical Carcinoma and Neuroblastoma in an Infant With a TP53 Germline Mutation: A Case Report and Literature Review. 38
29746440 2019
24
Osteosarcoma in a Child Below 2 Years of Age: Case Report and Review of the Literature. 38
30303869 2019
25
Increased susceptibility to mammary carcinogenesis and an opposite trend in endometrium in Trp53 heterozygous knockout female mice by backcrossing the BALB/c strain onto the background C3H strain. 38
31404346 2019
26
Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study). 38
31041842 2019
27
Early-Onset Colorectal Cancer in Patients with Li Fraumeni Syndrome: Is It Really Enough to Justify Early Colon Cancer Screening? 38
30981786 2019
28
[Li-Fraumeni Syndrome-Current Status and Prospects in Clinical Practice]. 38
31296811 2019
29
TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling. 38
31321604 2019
30
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients. 38
31296311 2019
31
A quantitative model to predict pathogenicity of missense variants in the TP53 gene. 38
30840781 2019
32
Hereditary myeloid malignancies. 38
31203998 2019
33
Myelodysplastic/myeloproliferative neoplasm with eosinophilia as a manifestation of Li Fraumeni Syndrome. 38
31230491 2019
34
Management of orbital rhabdomyosarcoma in a child with Li-Fraumeni syndrome. 38
30974170 2019
35
Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. 38
30974190 2019
36
Radiation-associated Angiosarcoma Mimicking Fallopian Tube High-grade Serous Carcinoma in a Woman With De Novo Li-Fraumeni Syndrome. 38
29620582 2019
37
Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome. 38
30719841 2019
38
Successful treatment of a TSC2-mutant glioblastoma with everolimus. 38
31154346 2019
39
Genotype-phenotype associations among panel-based TP53+ subjects. 38
31105275 2019
40
Osteosarcoma and second malignant neoplasms: a case series. 38
31054046 2019
41
Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil. 38
30535581 2019
42
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort. 38
30607672 2019
43
Surgery in reference centers improves survival of sarcoma patients: a nationwide study. 38
31081028 2019
44
Li-Fraumeni syndrome presenting as cutaneous melanoma in a child: case report and review of literature. 38
30653764 2019
45
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals. 38
30238178 2019
46
Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study. 38
30964582 2019
47
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes. 38
30302652 2019
48
Mitochondrial stress delays tumorigenesis in a Li-Fraumeni syndrome mouse model. 38
31225506 2019
49
Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence. 38
30591002 2019
50
Modeling malignancies using induced pluripotent stem cells: from chronic myeloid leukemia to hereditary cancers. 38
30659851 2019
51
Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population. 38
30709381 2019
52
Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue. 38
30608896 2019
53
Translating genomic risk into an early detection strategy for sarcoma. 38
30382615 2019
54
A case of metastatic adrenocortical carcinoma. 38
30863550 2019
55
Updates on progress in cancer screening for children with hereditary cancer predisposition syndromes. 38
30531401 2019
56
[Li-Fraumeni syndrome]. 38
30730202 2019
57
Hematologic malignancies and Li-Fraumeni syndrome. 38
30709875 2019
58
Li Fraumeni syndrome. 38
30709544 2019
59
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome. 38
30243621 2019
60
Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations. 38
30414230 2019
61
Report of a bi-allelic truncating germline mutation in TP53. 38
29737433 2019
62
Families' and health care professionals' attitudes towards Li-Fraumeni syndrome testing in children: A systematic review. 38
30191952 2019
63
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome: Erratum. 38
30489338 2019
64
Increasing Evidence for the Association of Breast Implant-Associated Anaplastic Large Cell Lymphoma and Li Fraumeni Syndrome. 38
31392066 2019
65
Frequency of hematologic and solid malignancies in the family history of 50 patients with acute myeloid leukemia - a single center analysis. 38
30998723 2019
66
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis. 38
30352134 2019
67
Current Approaches to Pancreatic Cancer Screening. 38
30558719 2019
68
Secondary osteosarcoma in patients previously treated for childhood cancer: Three case reports. 38
30655991 2019
69
Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma. 38
30196175 2018
70
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. 38
30240537 2018
71
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. 38
29955864 2018
72
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. 38
30216591 2018
73
New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer. 38
30553462 2018
74
[Genetic predisposition to childhood cancer]. 38
30397787 2018
75
Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni syndrome. 38
30445420 2018
76
Parent-child communication surrounding genetic testing for Li-Fraumeni syndrome: Living under the cloud of cancer. 38
30009566 2018
77
Oncogenic role of SFRP2 in p53-mutant osteosarcoma development via autocrine and paracrine mechanism. 38
30385632 2018
78
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. 38
30079495 2018
79
Surgical Treatment of Intramedullary Spinal Metastasis in Medulloblastoma: Case Report and Review of the Literature. 38
29990605 2018
80
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. 38
29392648 2018
81
A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome? 38
30004834 2018
82
Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome. 38
29893455 2018
83
Li-Fraumeni Syndrome-related Malignancies Involving the Genitourinary Tract: Review of a Single-institution Experience. 38
29935265 2018
84
Mouse Homolog of the Human TP53 R337H Mutation Reveals Its Role in Tumorigenesis. 38
30042151 2018
85
Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations. 38
30072235 2018
86
Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing. 38
29529297 2018
87
Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants. 38
29775997 2018
88
Additional germline findings from a tumor profiling program. 38
30092803 2018
89
Imaging of cancer predisposition syndromes. 38
30078044 2018
90
Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study. 38
30112666 2018
91
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients. 38
30107858 2018
92
Somatic TP53 variants frequently confound germ-line testing results. 38
29189820 2018
93
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. 38
30086788 2018
94
Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts. 38
30076369 2018
95
"I would like to discuss it further with an expert": a focus group study of Finnish adults' perspectives on genetic secondary findings. 38
29340884 2018
96
Adrenocortical carcinoma (ACC): When and why should we consider germline testing? 38
30104051 2018
97
Tumor Syndromes Predisposing to Osteosarcoma. 38
29668499 2018
98
The Influence of Adolescence on Parents' Perspectives of Testing and Discussing Inherited Cancer Predisposition. 38
29909594 2018
99
Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells. 38
29985349 2018
100
Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic TP53 Mutation. 38
29752319 2018
101
Germline mutation in the TP53 gene in uveal melanoma. 38
29769598 2018
102
An Unusual Presentation of a Cervical Paraspinal Leiomyoma in an Adolescent Female. 38
28429638 2018
103
Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. 38
28902083 2018
104
Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic. 38
28988289 2018
105
A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome. 38
30239254 2018
106
Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives. 38
29946497 2018
107
Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas. 38
29077933 2018
108
Please Test My Child for a Cancer Gene, but Don't Tell Her. 38
29535250 2018
109
Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner. 38
29581140 2018
110
Leptin regulation of the p53-HIF1α/PKM2-aromatase axis in breast adipose stromal cells: a novel mechanism for the obesity-breast cancer link. 38
29104286 2018
111
Pediatric oncologist willingness to offer germline TP53 testing in osteosarcoma. 38
29313943 2018
112
Primary Cutaneous Leiomyosarcoma Arising in a Patient With Li-Fraumeni Syndrome: A Neoplasm With Unusual Histopathologic Features and Loss of Heterozygosity at TP53 Gene. 38
28475508 2018
113
Epidermal Growth Factor Receptor-mutated Lung Cancer as the Initial Manifestation of Germline TP53 Mutation Associated Cancer. 38
29854570 2018
114
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. 38
29070607 2018
115
Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease. 38
29406000 2018
116
Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study. 38
29077256 2018
117
TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. 38
29300620 2018
118
[Diagnosis, surveillance, and management of familial leukemia]. 38
30305538 2018
119
Next generation sequencing is informing phenotype: a TP53 example. 38
28509937 2018
120
Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark. 38
29324801 2018
121
Surgical Interventions for Advanced Parameningeal Rhabdomyosarcoma of Children and Adolescents. 38
29541566 2018
122
Genes, Proteins, and Biological Pathways Preventing Chromothripsis. 38
29564828 2018
123
Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family. 38
30588330 2018
124
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome. 38
29416929 2018
125
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. 38
29076966 2018
126
Breast implant-associated anaplastic large cell lymphoma in a Li-FRAUMENI patient: a case report. 38
29370815 2018
127
Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. 38
29365323 2018
128
[Li-Fraumeni syndrome in a patient with multiple anaplastic oligodendrogliomas of the brain (a case report and literature review)]. 38
30137042 2018
129
What Should a Gynecologist Know about Li-Fraumeni Syndrome? Lessons from a Patient Undergoing Hysterectomy for Benign Indications. 38
29945152 2018
130
TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma. 38
28477317 2018
131
Colon Pathology Characteristics in Li-Fraumeni Syndrome. 38
28624650 2018
132
Cancer Screening in Li-Fraumeni Syndrome. 38
28772307 2017
133
Is Li-Fraumeni syndrome really much more common? 38
29091331 2017
134
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. 38
28772286 2017
135
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. 38
28772294 2017
136
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis. 38
28772291 2017
137
Increasing genomic instability during cancer therapy in a patient with Li-Fraumeni syndrome. 38
29594232 2017
138
Atypical cutaneous melanocytic tumours arising in two patients with Li-Fraumeni syndrome. 38
29108654 2017
139
[A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review]. 38
29237527 2017
140
Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial. 38
28772306 2017
141
Pancreatic Cancer Screening. 38
28879469 2017
142
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history. 38
28861920 2017
143
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. 38
28859040 2017
144
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. 38
28177947 2017
145
Li-Fraumeni Syndrome. 38
30333936 2017
146
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. 38
28573494 2017
147
Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome. 38
28303452 2017
148
Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. 38
28818333 2017
149
Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. 38
28114597 2017
150
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? 38
28983852 2017
151
Multiple primary tumors. 38
29192643 2017
152
Importance of updating family cancer history in childhood cancer survivors. 38
28405782 2017
153
Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing. 38
28973705 2017
154
Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile. 38
28911001 2017
155
A novel germline TP53 mutation p.Pro190Arg detected in a patient with lung and bilateral breast cancers. 38
28499267 2017
156
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome. 38
28301458 2017
157
Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes. 38
28592622 2017
158
Osteosarcoma: Molecular Pathogenesis and iPSC Modeling. 38
28735817 2017
159
Retinoblastoma and Neuroblastoma Predisposition and Surveillance. 38
28674118 2017
160
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. 38
28369373 2017
161
Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial? 38
28124295 2017
162
Long-Term Risk of Subsequent Malignant Neoplasms After Treatment of Childhood Cancer in the DCOG LATER Study Cohort: Role of Chemotherapy. 38
28530852 2017
163
Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions. 38
28572263 2017
164
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. 38
28218344 2017
165
Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO. 38
28137790 2017
166
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. 38
28572266 2017
167
Systemic Treatment Strategies for Patients with Hereditary Breast Cancer Syndromes. 38
28469042 2017
168
[Hereditary gastric and pancreatic cancer]. 38
28484856 2017
169
[Hereditary bone tumors]. 38
28421271 2017
170
Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. 38
28160093 2017
171
Inherited TP53 Mutations and the Li-Fraumeni Syndrome. 38
28270529 2017
172
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands. 38
27826806 2017
173
The hot-spot p53R172H mutant promotes formation of giant spermatogonia triggered by DNA damage. 38
27869164 2017
174
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes. 38
27714481 2017
175
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice. 38
28254861 2017
176
TP53 Mutations in Hypodiploid Acute Lymphoblastic Leukemia. 38
28003275 2017
177
Immune deficiency augments the prevalence of p53 loss of heterozygosity in spontaneous tumors but not bi-directional loss of heterozygosity in bone marrow progenitors. 38
28008605 2017
178
Breast Cancer in a 19-Year-Old Female Adolescent Identified with Li-Fraumeni Syndrome. 38
27589880 2017
179
Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome. 38
28279309 2017
180
Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. 38
27984644 2017
181
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. 38
27726232 2017
182
The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome. 38
28154273 2017
183
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient. 38
27523101 2017
184
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. 38
28356770 2017
185
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome. 38
27869650 2017
186
Genetic Syndromes Associated with Central Nervous System Tumors. 38
27911673 2017
187
POSTAR: a platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins. 38
28053162 2017
188
p53 oligomerization status modulates cell fate decisions between growth, arrest and apoptosis. 38
27754743 2016
189
Germ line mutations associated with leukemias. 38
27913495 2016
190
Erratum: Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2: Erratum. 38
31265670 2016
191
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. 38
27496084 2016
192
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing. 38
27516001 2016
193
Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication. 38
27258033 2016
194
Biochemical and imaging surveillance in Li-Fraumeni syndrome. 38
27819239 2016
195
Biochemical and imaging surveillance in Li-Fraumeni syndrome - Authors' reply. 38
27819240 2016
196
Hereditary gastrointestinal cancer. 38
26676416 2016
197
Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations. 38
26956143 2016
198
Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility. 38
27551116 2016
199
Evaluation of minimal disseminated disease in cryopreserved ovarian tissue from bone and soft tissue sarcoma patients. 38
27591237 2016
200
The effect of epigenetic silencing and TP53 mutation on the expression of DLL4 in human cancer stem disorder. 38
27542210 2016
201
First case report of an adrenocortical carcinoma caused by a BRCA2 mutation. 38
27603373 2016
202
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 38
27501770 2016
203
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. 38
27374712 2016
204
Super-Transactivation TP53 Variant in the Germline of a Family with Li-Fraumeni Syndrome. 38
27297285 2016
205
[Papillary thyroid carcinoma in Li-Fraumeni syndrome: Sporadic case or a rare association?]. 38
27209227 2016
206
Hsp90 and PKM2 Drive the Expression of Aromatase in Li-Fraumeni Syndrome Breast Adipose Stromal Cells. 38
27467582 2016
207
Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2. 38
27442652 2016
208
Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC). 38
27210295 2016
209
Oral Cancer-related Inherited Cancer Syndromes: A Comprehensive Review. 38
27484606 2016
210
Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome. 38
26621765 2016
211
Li-Fraumeni syndrome. 38
27622479 2016
212
Li-Fraumeni Syndrome. 38
27617148 2016
213
Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation. 38
27223487 2016
214
Managing patients at genetic risk of breast cancer. 38
26974991 2016
215
Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome. 38
26707089 2016
216
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome. 38
26823150 2016
217
Li-Fraumeni Syndrome and p53 in 2015: Celebrating their Silver Anniversary. 38
26833171 2016
218
5th International ACC Symposium: Hereditary Predisposition to Childhood ACC and the Associated Molecular Phenotype: 5th International ACC Symposium Session: Not Just for Kids! 38
26660147 2016
219
Synchronous Hepatoblastoma, Neuroblastoma, and Cutaneous Capillary Hemangiomas: A Case Report. 38
26368548 2016
220
Does PTEN gene mutation play any role in Li-Fraumeni syndrome. 38
27493922 2016
221
Diagnosis and Management of Hereditary Pancreatic Cancer. 38
27075349 2016
222
Genetic and functional analysis of a Li Fraumeni syndrome family in China. 38
26818906 2016
223
Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome. 38
29263814 2016
224
Breast implant-associated anaplastic large cell lymphoma in a patient with Li-Fraumeni syndrome. 38
25974645 2015
225
[Germline mutations of TP53 gene among Chinese families with high risk for breast cancer]. 38
26663043 2015
226
Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis. 38
26578795 2015
227
Potential Mechanisms for Cancer Resistance in Elephants and Comparative Cellular Response to DNA Damage in Humans. 38
26447779 2015
228
Frequent occurrence of gastric cancer in Asian kindreds with Li-Fraumeni syndrome. 38
25318593 2015
229
Current status of familial gastrointestinal polyposis syndromes. 38
26600934 2015
230
High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer. 38
26195711 2015
231
Using a family history questionnaire to identify adult patients with increased genetic risk for sarcoma. 38
26628864 2015
232
Do hereditary syndrome-related gynecologic cancers have any specific features? 38
26337050 2015
233
Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients. 38
26189108 2015
234
A new genotoxicity assay based on p53 target gene induction. 38
26232255 2015
235
Cancer susceptibility syndromes in children in the area of broad clinical use of massive parallel sequencing. 38
25982339 2015
236
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. 38
25787918 2015
237
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 38
26014290 2015
238
Genotype Versus Phenotype: The Yin and Yang of Germline TP53 Mutations in Li-Fraumeni Syndrome. 38
26101242 2015
239
Surveillance recommendations for patients with germline TP53 mutations. 38
26049273 2015
240
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations. 38
25945745 2015
241
Germline TP53 variants and susceptibility to osteosarcoma. 38
25896519 2015
242
TP53 germline mutation may affect response to anticancer treatments: analysis of an intensively treated Li-Fraumeni family. 38
25981898 2015
243
Committee opinion no. 634: Hereditary cancer syndromes and risk assessment. 38
26000542 2015
244
The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers. 38
25564201 2015
245
The benefit and burden of cancer screening in Li-Fraumeni syndrome: a case report. 38
26029016 2015
246
Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome. 38
25935441 2015
247
Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. 38
26086041 2015
248
Radiation therapy for choroid plexus carcinoma patients with Li-Fraumeni syndrome: advantageous or detrimental? 38
25964589 2015
249
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician. 38
26248253 2015
250
Mutant p53 Amplifies Epidermal Growth Factor Receptor Family Signaling to Promote Mammary Tumorigenesis. 38
25573952 2015
251
Modeling familial cancer with induced pluripotent stem cells. 38
25860607 2015
252
Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases. 38
24702488 2015
253
TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome. 38
25762628 2015
254
Etiologic, environmental and inherited risk factors in sarcomas. 38
25335907 2015
255
Simultaneous Adrenocortical Carcinoma and Neuroblastoma in an Infant With a Novel Germline p53 Mutation. 38
25374282 2015
256
Germline TP53 mutational spectrum in French Canadians with breast cancer. 38
25925845 2015
257
Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome. 38
25226867 2015
258
Angiosarcoma in previously irradiated breast in patient with Li-Fraumeni syndrome. A case report. 38
25271877 2015
259
Prostate Cancer and Li-Fraumeni Syndrome: Implications for Screening and Therapy. 38
26793489 2015
260
Surgery for Li Fraumeni syndrome: pushing the limits of surgical oncology. 38
23563208 2015
261
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 38
25584008 2015
262
[Therapeutic Effect and Tolerance of Ipilimumam in Metastatic Malignant Melanoma in Children -  a Case Report]. 38
26647899 2015
263
Parent decision-making around the genetic testing of children for germline TP53 mutations. 38
25223899 2015
264
Hereditary ovarian cancer: not only BRCA 1 and 2 genes. 38
26075229 2015
265
The Evolution of Tumors in Mice and Humans with Germline p53 Mutations. 38
26642854 2015
266
Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p. 38
26618902 2015
267
A functional variant in miR-605 modifies the age of onset in Li-Fraumeni syndrome. 38
25683625 2015
268
(18)F-FDG PET-CT for Surveillance of Brazilian Patients with Li-Fraumeni Syndrome. 38
25745605 2015
269
Primed for cancer: Li Fraumeni Syndrome and the pre-cancerous niche. 38
26082798 2015
270
Pediatric adrenocortical tumors: what they can tell us on adrenal development and comparison with adult adrenal tumors. 38
25741319 2015
271
Caspase Activation and Aberrant Cell Growth in a p53(+/+) Cell Line from a Li-Fraumeni Syndrome Family. 38
25866679 2015
272
EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature. 38
25433984 2015
273
PEComa in a Young Patient with Known Li-Fraumeni Syndrome. 38
25821471 2015
274
The occurrence of chronic lymphocytic leukemia after chronic phase of chronic myeloid leukemia: case report and literature review. 38
26662151 2015
275
Li-Fraumeni syndrome: a case report. 38
25639008 2014
276
Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome. 38
25549704 2014
277
Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome. 38
25313051 2014
278
The onset of p53 loss of heterozygosity is differentially induced in various stem cell types and may involve the loss of either allele. 38
24832469 2014
279
Adrenocortical tumors in Italian children: analysis of clinical characteristics and P53 status. Data from the national registries. 38
25148739 2014
280
EGFR-mutated lung cancer in Li-Fraumeni syndrome. 38
25047674 2014
281
Germline mutations of TP53 gene in breast cancer. 38
24929325 2014
282
Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. 38
24835218 2014
283
Pla2g16 phospholipase mediates gain-of-function activities of mutant p53. 38
25024203 2014
284
The epidemiology of glioma in adults: a "state of the science" review. 38
24842956 2014
285
p53 modulates Hsp90 ATPase activity and regulates aryl hydrocarbon receptor signaling. 38
24736433 2014
286
The tumor suppressor PTEN interacts with p53 in hereditary cancer (Review). 38
24718924 2014
287
Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome. 38
24706533 2014
288
Li-Fraumeni syndrome: cancer risk assessment and clinical management. 38
24642672 2014
289
Multiple metachronous osteosarcomas in a patient with Li-Fraumeni syndrome. 38
24274641 2014
290
A concurrent episode of two neoplasms in a toddler-age child. 38
24761385 2014
291
Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. 38
24382691 2014
292
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations. 38
24775443 2014
293
Incidence of second sarcomas: a cancer registry-based study. 38
24463790 2014
294
Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy. 38
24764719 2014
295
TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families. 38
24625245 2014
296
The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome. 38
23884452 2014
297
Atypical fibroxanthoma arising in a young patient with Li-Fraumeni syndrome. 38
24299451 2014
298
p53 protein regulates Hsp90 ATPase activity and thereby Wnt signaling by modulating Aha1 expression. 38
24451373 2014
299
Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers. 38
24636404 2014
300
Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations. 38
24573247 2014
301
Fourth primary malignant tumor in a patient with possible li-fraumeni syndrome: synchronous diagnosis of postirradiation sarcoma, cutaneous relapse of a previous soft tissue sarcoma, and lung adenocarcinoma. 38
25506014 2014
302
Spitzoid melanoma in a child with Li-Fraumeni syndrome. 38
24251760 2014
303
Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection. 38
25184754 2014
304
Predisposition to pediatric and hematologic cancers: a moving target. 38
24857136 2014
305
RECQL4 and p53 potentiate the activity of polymerase γ and maintain the integrity of the human mitochondrial genome. 38
24067899 2014
306
A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing. 38
24810334 2014
307
p53 and hereditary cancer. 38
25201186 2014
308
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. 38
24122735 2013
309
Breast sarcoma after breast-conserving therapy for breast cancer in a patient with Li-Fraumeni syndrome presenting as focal nonmasslike enhancement on MRI. 38
24261401 2013
310
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours. 38
23612572 2013
311
Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation. 38
23950206 2013
312
siRNA screening identifies differences in the Fanconi anemia pathway in BALB/c-Trp53+/- with susceptibility versus C57BL/6-Trp53+/- mice with resistance to mammary tumors. 38
23435420 2013
313
Ionizing radiation-induced responses in human cells with differing TP53 status. 38
24232458 2013
314
Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome. 38
22495821 2013
315
Chest wall sarcoma: 18F-FDG PET/CT in a patient with Li-Fraumeni syndrome. 38
24107814 2013
316
Paraneoplastic autoimmune multiorgan syndrome in a patient with Li Fraumeni syndrome. 38
23903856 2013
317
Li-Fraumeni syndrome. 38
24367873 2013
318
Successful treatment of a recurrent choroid plexus carcinoma with surgery followed by high-dose chemotherapy and stem cell rescue. 38
23301664 2013
319
Signs and symptoms of childhood cancer: a guide for early recognition. 38
23939697 2013
320
Update on pediatric cancer predisposition syndromes. 38
23625733 2013
321
Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. 38
23255406 2013
322
[Radiation-induced intracranial osteosarcoma after radiation for acute lymphocytic leukemia associated with Li-Fraumeni syndrome]. 38
23732761 2013
323
Ethical issues in presymptomatic genetic testing for minors: a dilemma in Li-Fraumeni syndrome. 38
23233110 2013
324
A young woman with bilateral breast cancer: identifying a genetic cause and implications for management. 38
23667202 2013
325
Prevalence of germline TP53 mutations in HER2+ breast cancer patients. 38
23580068 2013
326
Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222. 38
23571737 2013
327
A case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer. 38
23667851 2013
328
Li Fraumeni syndrome, cancer and senescence: a new hypothesis. 38
23587008 2013
329
Association between esophageal leiomyomatosis and p53 mutation. 38
23522203 2013
330
Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome. 38
23015295 2013
331
A contemporary review of molecular candidates for the development and treatment of childhood medulloblastoma. 38
23292496 2013
332
Increased oxidative metabolism in the Li-Fraumeni syndrome. 38
23484829 2013
333
Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients. 38
23172776 2013
334
[New knowledge of Li-Fraumeni syndrome]. 38
23411951 2013
335
Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions. 38
23355100 2013
336
Divergent control of Cav-1 expression in non-cancerous Li-Fraumeni syndrome and human cancer cell lines. 38
23114650 2013
337
Hereditary breast cancer: the era of new susceptibility genes. 38
23586058 2013
338
Endocrine tumors associated with neurofibromatosis type 1, Peutz-Jeghers syndrome and other familial neoplasia syndromes. 38
23652677 2013
339
Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 38
23175693 2013
340
Paget disease of the breast with invasion from nipple skin into the dermis: an unusual type of skin invasion not associated with an adverse outcome. 38
23276177 2013
341
Connecting molecular pathways to hereditary cancer risk syndromes. 38
23714463 2013
342
Number of rare germline CNVs and TP53 mutation types. 38
23259501 2012
343
Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations. 38
22233476 2012
344
No evidence for breast cancer susceptibility associated with variants of BRD7, a component of p53 and BRCA1 pathways. 38
22864638 2012
345
Routine TP53 testing for breast cancer under age 30: ready for prime time? 38
22851211 2012
346
Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey. 38
22653678 2012
347
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. 38
22939227 2012
348
Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: increased expression of a CD44 variant isoform after chemotherapy. 38
23031740 2012
349
Genetically engineered mouse models and human osteosarcoma. 38
23036272 2012
350
Rapamycin extends lifespan and delays tumorigenesis in heterozygous p53+/- mice. 38
23123616 2012
351
Clinicopathologic and molecular features of sporadic early-onset colorectal adenocarcinoma: an adenocarcinoma with frequent signet ring cell differentiation, rectal and sigmoid involvement, and adverse morphologic features. 38
22481281 2012
352
Chest wall leiomyosarcoma after breast-conservative therapy for early-stage breast cancer in a young woman with Li-Fraumeni syndrome. 38
22878818 2012
353
Genetic aspects of adrenocortical tumours and hyperplasias. 38
22471738 2012
354
Genetic testing by cancer site: stomach. 38
22846738 2012
355
Hereditary breast cancer: practical pursuit for clinical translation. 38
22434244 2012
356
Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010. 38
21990040 2012
357
Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort. 38
22392042 2012
358
Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature. 38
22672556 2012
359
Genetics of adrenocortical disease: an update. 38
22476103 2012
360
A prospective biological study in relation to a family with Li-Fraumeni syndrome. 38
22551548 2012
361
Orbital sarcoma in a young patient with Li-Fraumeni syndrome. 38
22652861 2012
362
Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients. 38
22507745 2012
363
Pharmacological blockade of Bcl-2, Bcl-x(L) and Bcl-w by the BH3 mimetic ABT-737 has only minor impact on tumour development in p53-deficient mice. 38
21997189 2012
364
Towards an understanding of the role of p53 in adrenocortical carcinogenesis. 38
21930187 2012
365
Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database. 38
21837677 2012
366
TP53 germline mutations in adult patients with adrenocortical carcinoma. 38
22170717 2012
367
The R337H mutation in TP53 and breast cancer in Brazil. 38
22455664 2012
368
Association of adrenocortical carcinoma with familial cancer susceptibility syndromes. 38
22209747 2012
369
Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 38
21761402 2012
370
An identical, complex TP53 mutation arising independently in two unrelated families with diverse cancer profiles: the complexity of interpreting cancer risk in carriers. 38
23552518 2012
371
Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. 38
22265402 2012
372
Increased oxidative damage in carriers of the germline TP53 p.R337H mutation. 38
23056559 2012
373
Tumors of central and peripheral nervous system associated with inherited genetic syndromes. 38
23796843 2012
374
[Li-Fraumeni syndrome - a proposal of complex prevention care for carriers of TP53 mutation with total-body MRI]. 38
22920207 2012
375
Familial aggregation of urinary tract and bone tumors: searching for a syndrome. 38
22666263 2012
376
Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers. 38
21688173 2011
377
Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations. 38
21562711 2011
378
TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evidence for chimerism involving a common mutant founder haplotype: case report. 38
22004116 2011
379
Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome. 38
20693561 2011
380
A rare case of an aldosterone secreting metastatic adrenocortical carcinoma and papillary thyroid carcinoma in a 31-year-old male. 38
22355500 2011
381
[Li-Fraumeni syndrome]. 38
21345471 2011
382
Gastric tumours in hereditary cancer syndromes: clinical features, molecular biology and strategies for prevention. 38
21865131 2011
383
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. 38
21946351 2011
384
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma. 38
21814224 2011
385
Apparently "BRCA-related" breast and ovarian cancer patient with germline TP53 mutation. 38
21535297 2011
386
Gastric cancer in individuals with Li-Fraumeni syndrome. 38
21552135 2011
387
Association of germline or somatic TP53 missense mutation with oncogene amplification in tumors developed in patients with Li-Fraumeni or Li-Fraumeni-like syndrome. 38
21484931 2011
388
Genetic anticipation is associated with telomere shortening in hereditary breast cancer. 38
21829373 2011
389
Pulmonary sclerosing hemangioma in a 21-year-old male with metastatic hereditary non-polyposis colorectal cancer: report of a case. 38
21645337 2011
390
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. 38
21601526 2011
391
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. 38
21305319 2011
392
Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes. 38
21384469 2011
393
Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome. 38
21464421 2011
394
Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case. 38
21626334 2011
395
Increased sperm aneuploidy in two male carriers of germline TP53 mutations. 38
21665182 2011
396
Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation. 38
21054160 2011
397
Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil. 38
21192060 2011
398
Li-fraumeni syndrome. 38
21779515 2011
399
A minimally invasive assay for individual assessment of the ATM/CHEK2/p53 pathway activity. 38
21389785 2011
400
Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. 38
21210147 2011
401
An introduction to Li-Fraumeni syndrome. 38
21473531 2011
402
Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor. 38
20967502 2011
403
CREG1 enhances p16(INK4a) -induced cellular senescence. 38
21263217 2011
404
Li-Fraumeni syndrome and the role of the pediatric nurse practitioner. 38
21278043 2011
405
Multiple primary cutaneous melanomas in Li-Fraumeni syndrome. 38
21339461 2011
406
[Li-Fraumeni syndrome: clinico-molecular diagnostics and medico-genetic counseling]. 38
22379889 2011
407
Imaging of cancer predisposition syndromes in children. 38
21257945 2011
408
Repression of mammary stem/progenitor cells by p53 is mediated by Notch and separable from apoptotic activity. 38
21280161 2011
409
Higher miRNA tolerance in immortal Li-Fraumeni fibroblasts with abrogated interferon signaling pathway. 38
21199806 2011
410
TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma. 38
21060032 2010
411
Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits. 38
20658357 2010
412
A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. 38
20805372 2010
413
Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. 38
21059199 2010
414
A new therapeutic basis for treating Li-Fraumeni Syndrome breast tumors expressing mutated TP53. 38
21317445 2010
415
A molecular signature of normal breast epithelial and stromal cells from Li-Fraumeni syndrome mutation carriers. 38
21311097 2010
416
Breast cancer predisposition syndromes. 38
20816575 2010
417
[Hereditary bone tumors]. 38
20960198 2010
418
Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. 38
20455025 2010
419
MDM2 polymorphism increases susceptibility to childhood acute myeloid leukemia: a report from the Children's Oncology Group. 38
20582981 2010
420
Enhancement of transcriptional activity of mutant p53 tumor suppressor protein through stabilization of tetramer formation by calix[6]arene derivatives. 38
20605095 2010
421
Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome. 38
20586629 2010
422
Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences. 38
20479422 2010
423
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 38
20522432 2010
424
Familial gastric cancer and Li-Fraumeni syndrome. 38
19674071 2010
425
Li-Fraumeni syndrome in a Turkish family. 38
20426520 2010
426
[Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation]. 38
20478780 2010
427
p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome. 38
20028212 2010
428
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 38
20407015 2010
429
Osteosarcoma. 38
20205169 2010
430
Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome. 38
21488255 2010
431
Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. 38
20198344 2010
432
Single-cell analysis of p16(INK4a) and p21(WAF1) expression suggests distinct mechanisms of senescence in normal human and Li-Fraumeni Syndrome fibroblasts. 38
20039273 2010
433
TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. 38
20308654 2010
434
Childhood predictive genetic testing for Li-Fraumeni syndrome. 38
19404774 2010
435
Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. 38
20494261 2010
436
Primary orbital liposarcoma. 38
20022639 2010
437
Restoration of p53 functions protects cells from concanavalin A-induced apoptosis. 38
20124456 2010
438
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. 38
19877175 2010
439
TP53 mutations in human cancers: origins, consequences, and clinical use. 38
20182602 2010
440
Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese population. 38
19238535 2010
441
The emerging role of the distal Fallopian tube and p53 in pelvic serous carcinogenesis. 38
19882674 2010
442
Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome. 38
19952748 2010
443
The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube. 38
19834951 2010
444
Genetic modeling of Li-Fraumeni syndrome in zebrafish. 38
20075382 2010
445
Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience. 38
21348412 2010
446
Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome. 38
20017945 2009
447
De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system. 38
19711436 2009
448
Breast magnetic resonance imaging: an overview for nonradiologists. 38
20014426 2009
449
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis. 38
19542078 2009
450
The alternative lengthening of telomeres phenotype in breast carcinoma is associated with HER-2 overexpression. 38
19734843 2009
451
Surgical management of nonmultiple endocrine neoplasia endocrinopathies: state-of-the-art review. 38
19836485 2009
452
High frequency of de novo mutations in Li-Fraumeni syndrome. 38
19556618 2009
453
2009 version of the Chompret criteria for Li Fraumeni syndrome. 38
19652052 2009
454
Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer. 38
19405127 2009
455
The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations. 38
19602465 2009
456
Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome. 38
19378321 2009
457
Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. 38
19340432 2009
458
Adrenal cortical tumors and multiple endocrine neoplasia-related syndromes. 38
19471237 2009
459
Mutant p53 gain of oncogenic function: in vivo evidence, mechanism of action and its clinical implications. 38
19670804 2009
460
Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing. 38
19269943 2009
461
Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome. 38
19101993 2009
462
Common polymorphisms in the MDM2 and TP53 genes and the relationship between TP53 mutations and patient outcomes in glioblastomas. 38
18462472 2009
463
Genetic predisposition and environmental risk factors to pancreatic cancer: A review of the literature. 38
19150414 2009
464
A molecular approach for identifying individuals with Li-Fraumeni syndrome who have a limited family history. 38
19250386 2009
465
Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. 38
19204208 2009
466
Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome. 38
19012332 2009
467
Radiation-sensitive genetically susceptible pediatric sub-populations. 38
19083227 2009
468
Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family. 38
18937320 2009
469
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. 38
19338683 2009
470
The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30. 38
19714488 2009
471
One man, one disease? 38
21686767 2009
472
Attitude towards pre-implantation genetic diagnosis for hereditary cancer. 38
19642022 2009
473
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset. 38
19468865 2009
474
The etiology of osteosarcoma. 38
20213384 2009
475
Synchronous and metachronous skeletal osteosarcomas: the Norwegian Radium Hospital experience. 38
19863225 2009
476
Li-Fraumeni syndrome: the genetics and treatment considerations for the sarcoma and associated neoplasms. 38
19056046 2009
477
p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma. 38
19714490 2009
478
[Li-Fraumeni syndrome]. 38
19764388 2009
479
Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. 38
19046423 2008
480
Potential of Advexin: a p53 gene-replacement therapy in Li-Fraumeni syndrome. 38
19086841 2008
481
Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma. 38
18989156 2008
482
[Sporadic adrenocortical tumors: genetics and perspectives for the pathologist]. 38
19068395 2008
483
Li-Fraumeni syndrome in a Malaysian kindred. 38
18786442 2008
484
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 38
18762572 2008
485
Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology. 38
18687797 2008
486
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. 38
18685109 2008
487
Psychological functioning in persons considering genetic counseling and testing for Li-Fraumeni syndrome. 38
18688785 2008
488
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 38
18511570 2008
489
Li-Fraumeni syndrome: a case with 4 separate primary sarcomas and 5 sequential free flaps in the maxillofacial region. 38
18634962 2008
490
[Advances on mutant p53 research]. 38
18550490 2008
491
Lower breast cancer survival in mothers of children with a malignancy: a national study. 38
18458676 2008
492
Interferon regulatory factors IRF5 and IRF7 inhibit growth and induce senescence in immortal Li-Fraumeni fibroblasts. 38
18505922 2008
493
Familial risk for soft tissue tumors: a nation-wide epidemiological study from Sweden. 38
17929055 2008
494
Molecular markers and the pathogenesis of adrenocortical cancer. 38
18515740 2008
495
p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes. 38
18428420 2008
496
Identification of a novel p53 in-frame deletion in a Li-Fraumeni-like family. 38
17554785 2008
497
Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome. 38
18381406 2008
498
Genetic and environmental factors in head and neck cancer genesis. 38
18569329 2008
499
Immortalization of epithelial progenitor cells mediated by resveratrol. 38
17968319 2008
500
Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families. 38
17541742 2008
501
A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor. 38
17066464 2008
502
Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation. 38
17427234 2008
503
F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. 38
18349092 2008
504
p53: a guide to apoptosis. 38
18336191 2008
505
Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. 38
18248785 2008
506
A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene. 38
18307025 2008
507
Cancer genes induced by malathion and parathion in the presence of estrogen in breast cells. 38
18204794 2008
508
Estrogen and progesterone induce persistent increases in p53-dependent apoptosis and suppress mammary tumors in BALB/c-Trp53+/- mice. 38
18471300 2008
509
A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature. 38
19127094 2008
510
A rare tumor and an ethical dilemma in a family with a germline TP53 mutation. 38
18068537 2008
511
Impaired repair of cyclobutane pyrimidine dimers in human keratinocytes deficient in p53 and p63. 38
17984111 2008
512
Contribution of p53, p63, and p73 to the developmental diseases and cancer. 38
18348649 2008
513
Hereditary breast cancer: part I. Diagnosing hereditary breast cancer syndromes. 38
18086272 2008
514
Is CHEK2 a cause of the Li-Fraumeni syndrome? 38
18178638 2008
515
Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation. 38
16333835 2007
516
CHK2 kinase: cancer susceptibility and cancer therapy - two sides of the same coin? 38
18004398 2007
517
p53 and the pathogenesis of skin cancer. 38
17270229 2007
518
GLIOGENE an International Consortium to Understand Familial Glioma. 38
17855690 2007
519
Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population. 38
17690113 2007
520
Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation. 38
17572079 2007
521
Hepatoblastoma in a child with neurofibromatosis type I. 38
16283630 2007
522
Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age. 38
17567834 2007
523
Tumor genomic profiling and TP53 germline mutation analysis of first-degree relative familial gliomas. 38
17656254 2007
524
Germ-line genetic variation of TP53 in osteosarcoma. 38
17096406 2007
525
Epigenetic and functional analysis of IGFBP3 and IGFBPrP1 in cellular immortalization. 38
17451653 2007
526
EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome. 38
17540308 2007
527
p53 therapy in a patient with Li-Fraumeni syndrome. 38
17483435 2007
528
Studies in target-based treatment. 38
17483434 2007
529
Inherited cancer susceptibility syndromes in paediatric practice. 38
17444822 2007
530
Crippling p53 activities via knock-in mutations in mouse models. 38
17401426 2007
531
Orbital rhabdomyosarcoma in Li-Fraumeni syndrome. 38
17420382 2007
532
Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma. 38
16534790 2007
533
[Li-Fraumeni familial cancer syndrome: case report and review of the literature]. 38
17695766 2007
534
Adrenocortical carcinoma. 38
17379929 2007
535
Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families. 38
17224268 2007
536
MDM2 SNP309 T>G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients. 38
17096342 2007
537
Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. 38
17308077 2007
538
The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes. 38
17003841 2007
539
Two TP53 germline mutations in a classical Li-Fraumeni syndrome family. 38
17318340 2007
540
INGN 201: Ad-p53, Ad5CMV-p53, adenoviral p53, p53 gene therapy--introgen, RPR/INGN 201. 38
17472413 2007
541
Relationship between DNA double-strand break rejoining and cell survival after exposure to ionizing radiation in human fibroblast strains with differing ATM/p53 status: implications for evaluation of clinical radiosensitivity. 38
17126209 2006
542
Mechanisms of disease: adrenocortical tumors--molecular advances and clinical perspectives. 38
17082810 2006
543
Hereditary cancer predisposition in children: genetic basis and clinical implications. 38
16642469 2006
544
Variant of the CHEK2 gene as a prognostic marker in glioblastoma multiforme. 38
17016233 2006
545
Expression profiling identifies three pathways altered in cellular immortalization: interferon, cell cycle, and cytoskeleton. 38
16960018 2006
546
MDM2 promoter polymorphism is associated with both an increased susceptibility to gastric carcinoma and poor prognosis. 38
16983111 2006
547
Familial risk for histology-specific bone cancers: an updated study in Sweden. 38
16859907 2006
548
Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype. 38
16597646 2006
549
Joint effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni syndrome. 38
16912210 2006
550
Incidence of multiple primary malignancies among patients with bone cancers in Sweden. 38
16788847 2006
551
[Familiar glioblastoma presenting as a true multicentric tumor: etiopathogenic and prognostic features]. 38
16960645 2006
552
Second primary malignancies among patients with soft tissue tumors in Sweden. 38
16557572 2006
553
Genetic mapping of a putative tumor suppressor locus that influences tumorigenesis and metastasis in mice. 38
16586494 2006
554
p53 downregulates its activating vaccinia-related kinase 1, forming a new autoregulatory loop. 38
16782868 2006
555
Balanced t(11;15)(q23;q15) in a TP53+/+ breast cancer patient from a Li-Fraumeni syndrome family. 38
16772121 2006
556
Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. 38
16258005 2006
557
Loss of one p53 allele results in four-fold reduction of p53 mRNA and protein: a basis for p53 haplo-insufficiency. 38
16449974 2006
558
Identification of a novel germ line variant hotspot mutant p53-R175L in pediatric adrenal cortical carcinoma. 38
16707427 2006
559
Evaluation of a decision aid for families considering p53 genetic counseling and testing. 38
16617243 2006
560
Acute myelogenous leukemia in a patient with Li-Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report. 38
16437140 2006
561
The first case of Li-Fraumeni syndrome in Bosnia and Herzegovina: case report. 38
16929790 2006
562
[Germline tp53 neomutation in a patient with Li-Fraumeni syndrome and pancreatic adenocarcinoma]. 38
16633321 2006
563
Antioxidant agents transiently inhibit aneuploidy progression in Li-Fraumeni cell strains. 38
16385586 2006
564
Association between MDM2-SNP309 and age at colorectal cancer diagnosis according to p53 mutation status. 38
16478747 2006
565
Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivo. 38
15908567 2006
566
Stat1 expression is not sufficient to regulate the interferon signaling pathway in cellular immortalization. 38
16426144 2006
567
Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation. 38
16736287 2006
568
Genotype phenotype correlation in Li-Fraumeni syndrome kindreds and its implications for management. 38
16736281 2006
569
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. 38
16401470 2006
570
Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. 38
16033918 2006
571
Susceptibility to breast cancer: hereditary syndromes and low penetrance genes. 38
17917139 2006
572
Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome. 38
16284780 2005
573
[Prophylactic surgery of mammary and ovarian carcinoma]. 38
16237564 2005
574
[Risk factors for pediatric malignant bone tumors]. 38
16324620 2005
575
[Gliomas: the role of environmental risk factors and genetic predisposition]. 38
16240850 2005
576
p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome. 38
16203772 2005
577
Molecular genetics of adrenocortical tumours, from familial to sporadic diseases. 38
16189167 2005
578
p53 Genotypes and risk of glioma and meningioma. 38
16172235 2005
579
Mice expressing a mammary gland-specific R270H mutation in the p53 tumor suppressor gene mimic human breast cancer development. 38
16166291 2005
580
Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutation. 38
15977174 2005
581
Li-Fraumeni syndrome: a case report and discussion. 38
16164004 2005
582
Germline p53 mutation presenting as synchronous tumors. 38
16096528 2005
583
An intronic variant in the TP53 gene in a Brazilian woman with breast cancer. 38
15993272 2005
584
Familial gastric cancers with Li-Fraumeni Syndrome: a case repast. 38
15996045 2005
585
Li-Fraumeni syndrome: a p53 family affair. 38
15917654 2005
586
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. 38
15925506 2005
587
Nucleotide excision repair- and p53-deficient mouse models in cancer research. 38
15914203 2005
588
Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis. 38
15993273 2005
589
Aberrations of the CHK2 gene are rare in pediatric solid tumors. 38
15942682 2005
590
A mutated p53 status did not prevent the induction of apoptosis by sulforaphane, a promising anti-cancer drug. 38
15868375 2005
591
The risk of developing second cancers among survivors of childhood soft tissue sarcoma. 38
15852362 2005
592
p53 gain-of-function: tumor biology and bioinformatics come together. 38
15846083 2005
593
A chronic myeloid leukemia-like syndrome case with del (12) (p12) in a Li-Fraumeni syndrome family. 38
15784129 2005
594
Prenatal diagnosis history of a Li-Fraumeni syndrome family. 38
15721647 2005
595
Preimplantation genetic diagnosis (PGD) for heritable neoplasia. 38
15784832 2005
596
Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. 38
15695383 2005
597
Primary orbital liposarcoma in Li-Fraumeni cancer family syndrome: a case report. 38
15850016 2005
598
Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome. 38
15719270 2005
599
Successful treatment of an unresectable choroid plexus carcinoma in a patient with Li-Fraumeni syndrome. 38
15654279 2005
600
The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds. 38
15951970 2005
601
Inheritance of cancer. 38
20704938 2004
602
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. 38
15607980 2004
603
Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. 38
15607981 2004
604
Methylation profile of the promoter CpG islands of 14 "drug-resistance" genes in hepatocellular carcinoma. 38
15526362 2004
605
Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation. 38
15390294 2004
606
Alternative splicing and mutation status of CHEK2 in stage III breast cancer. 38
15361853 2004
607
Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. 38
15381368 2004
608
Prenatal diagnosis in Li-Fraumeni syndrome. 38
15342977 2004
609
E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients. 38
15288293 2004
610
Germ line BAX alterations are infrequent in Li-Fraumeni syndrome. 38
15298965 2004
611
Loss of heterozygosity occurs via mitotic recombination in Trp53+/- mice and associates with mammary tumor susceptibility of the BALB/c strain. 38
15289317 2004
612
Multifocal intrafollicular granulosa cell tumor of the ovary associated with an unusual germline p53 mutation. 38
15073606 2004
613
A novel genetic modifier of p53, mop1, results in embryonic lethality. 38
15181534 2004
614
p53-induced up-regulation of MnSOD and GPx but not catalase increases oxidative stress and apoptosis. 38
15059885 2004
615
DNA repair and cancer: lessons from mutant mouse models. 38
14965359 2004
616
CHEK2 1100delC is not a risk factor for male breast cancer population. 38
14648717 2004
617
Recognition and management of hereditary breast cancer syndromes. 38
14755011 2004
618
Accuracy of cancer family histories: comparison of two breast cancer syndromes. 38
15727243 2004
619
The hereditary spectrum of pancreatic cancer: the Edmonton experience. 38
14760433 2004
620
A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. 38
15368100 2004
621
Novel p53 germline mutation in a patient with Li-Fraumeni syndrome. 38
14656244 2003
622
Single and multiple metachronous osteosarcoma tumors after therapy. 38
14635081 2003
623
Familial sarcoma: challenging pedigrees. 38
14584079 2003
624
Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. 38
14583457 2003
625
Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma. 38
14568168 2003
626
Activation of the stress-activated JNK and p38 MAP kinases in human cells by Photofrin-mediated photodynamic therapy. 38
14705642 2003
627
The genetics of pancreatic cancer. 38
12946833 2003
628
Multiple primary malignancies in osteosarcoma patients. Incidence and predictive value of osteosarcoma subtype for cancer syndromes related with osteosarcoma. 38
12891382 2003
629
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. 38
12885464 2003
630
Regulation of the Chk2 protein kinase by oligomerization-mediated cis- and trans-phosphorylation. 38
12805407 2003
631
[Gene-regulating chemoprevention against cancer--as a model for "molecular-targeting prevention" of cancer]. 38
12806965 2003
632
Immortal, telomerase-negative cell lines derived from a Li-Fraumeni syndrome patient exhibit telomere length variability and chromosomal and minisatellite instabilities. 38
12771041 2003
633
Tumor suppressor p53 dependent recruitment of nucleotide excision repair factors XPC and TFIIH to DNA damage. 38
12713809 2003
634
A peroxisome proliferator-activated receptor-gamma agonist and the p53 rescue drug CP-31398 inhibit the spontaneous immortalization of breast epithelial cells. 38
12702583 2003
635
Germline TP53 mutations and Li-Fraumeni syndrome. 38
12619118 2003
636
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. 38
12584563 2003
637
Molecular alterations and lung tumors in p53 mutant mice exposed to cigarette smoke. 38
12591728 2003
638
Is p53 intronic variant G13964C associated with predisposition to cancer? 38
14617836 2003
639
[When is it useful to look for TP53 germline gene mutations in families of oncology patients?]. 38
12841124 2003
640
General keynote: hereditary cancer: lessons from Li-Fraumeni syndrome. 38
12586075 2003
641
TP53, hChk2, and the Li-Fraumeni syndrome. 38
12710683 2003
642
Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol. 38
12695689 2003
643
Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk. 38
12793891 2003
644
Leukaemic relapse of donor origin after allogeneic bone marrow transplantation from a donor who later developed bronchogenic carcinoma. 38
12437659 2002
645
Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome. 38
12442270 2002
646
Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. 38
12471212 2002
647
Analysis of CHK2 in patients with myelodysplastic syndromes. 38
12363465 2002
648
p53 and DNA damage-inducible expression of the xeroderma pigmentosum group C gene. 38
12242345 2002
649
Induction of cellular senescence in a telomerase negative human immortal fibroblast cell line, LCS-AF.1-3, by human chromosome 6. 38
12239626 2002
650
Bone marrow failure syndromes in children. 38
12430621 2002
651
Sustained activation of the extracellular signal-regulated kinase pathway protects cells from photofrin-mediated photodynamic therapy. 38
12359764 2002
652
[Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers]. 38
12406399 2002
653
Preimplantation genetic diagnosis for cancer predisposition. 38
12419039 2002
654
Chk2 is a tumor suppressor that regulates apoptosis in both an ataxia telangiectasia mutated (ATM)-dependent and an ATM-independent manner. 38
12192050 2002
655
Family with acute myelocytic leukemia, breast, ovarian, and gastrointestinal cancer. 38
12377407 2002
656
p53 Germline mutation in a patient with Li-Fraumeni Syndrome and three metachronous malignancies. 38
12200603 2002
657
Telomerase protects cancer-prone human cells from chromosomal instability and spontaneous immortalization. 38
12432253 2002
658
Identification of a rare polymorphism in the human TP53 promoter. 38
12127401 2002
659
[Cancer in siblings of children with cancer]. 38
12082866 2002
660
A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla. 38
12076704 2002
661
RNA polymerase III transcription can be derepressed by oncogenes or mutations that compromise p53 function in tumours and Li-Fraumeni syndrome. 38
12082526 2002
662
Developmental abnormalities induced by X-irradiation in p53 deficient mice. 38
12182118 2002
663
Adult-onset calorie restriction and fasting delay spontaneous tumorigenesis in p53-deficient mice. 38
12016155 2002
664
Molecular biology of gastric cancer. 38
11979414 2002
665
Etiology of osteosarcoma. 38
11953594 2002
666
Individual-specific liability groups in genetic linkage, with applications to kindreds with Li-Fraumeni syndrome. 38
11822026 2002
667
Delayed chromosome changes in gamma-irradiated normal and Li-Fraumeni fibroblasts. 38
11835679 2002
668
Parental cancer as a risk factor for bone cancer: a nation-wide study from Sweden. 38
11809347 2002
669
Germ-line p53-targeted disruption inhibits helicobacter-induced premalignant lesions and invasive gastric carcinoma through down-regulation of Th1 proinflammatory responses. 38
11830522 2002
670
Knockout and transgenic mice of Trp53: what have we learned about p53 in breast cancer? 38
12052252 2002
671
Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome? 38
12181637 2002
672
The Li-Fraumeni syndrome. 38
11900879 2002
673
Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors. 38
11746983 2002
674
Mutation analysis of the CHK2 gene in breast carcinoma and other cancers. 38
12052256 2002
675
Analysis of p53 tumor suppressor gene in families with multiple glioma patients. 38
11859970 2001
676
Polymorphic hCHK2/hCds1 codon 84 allele and risk of squamous cell carcinoma of the head and neck--a case-control analysis. 38
11751432 2001
677
Drosophila Chk2 is required for DNA damage-mediated cell cycle arrest and apoptosis. 38
11728459 2001
678
Extreme dark cytotoxicity of Nile Blue A in normal human fibroblasts. 38
11723799 2001
679
Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap. 38
11826360 2001
680
Medulloblastoma in a child with Rubenstein-Taybi Syndrome: case report and review of the literature. 38
11741116 2001
681
[Epidemiology of soft tissue sarcomas in adults]. 38
11688207 2001
682
An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. 38
11600572 2001
683
Impact of ionizing radiation and genetic background on mammary tumorigenesis in p53-deficient mice. 38
11522657 2001
684
Cancer in siblings of children with cancer in the Nordic countries: a population-based cohort study. 38
11551577 2001
685
Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway. 38
11571648 2001
686
Genomic instability in head and neck cancer patients. 38
11443752 2001
687
Functional interaction of p53 and BLM DNA helicase in apoptosis. 38
11399766 2001
688
Relative frequency and morphology of cancers in carriers of germline TP53 mutations. 38
11498785 2001
689
Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome. 38
11474498 2001
690
Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome. 38
14965603 2001
691
Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome. 38
11520573 2001
692
Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome. 38
11494139 2001
693
Tumor suppressor loss in pituitary tumors. 38
11414476 2001
694
Genetic background of adrenocortical tumor development. 38
11572037 2001
695
An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. 38
11481490 2001
696
Mutation analysis of the CHK2 gene in families with hereditary breast cancer. 38
11461078 2001
697
Analysis of the CHK2 gene in lymphoid malignancies. 38
11699418 2001
698
DNA strand break-sensing molecule poly(ADP-Ribose) polymerase cooperates with p53 in telomere function, chromosome stability, and tumor suppression. 38
11359911 2001
699
[Li-Fraumeni syndrome: update, new data and guidelines for clinical management]. 38
11459705 2001
700
Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. 38
11494117 2001
701
Mutation analysis of the DNA-damage checkpoint gene CHK2 in myelodysplastic syndromes and acute myeloid leukemias. 38
11248330 2001
702
A population-based study of familial soft tissue tumors. 38
11297891 2001
703
Multiple primary malignancies: An epidemiological and pedigree analysis of 57 patients with at least three tumours. 38
11373110 2001
704
Adenocarcinoma of the colon developing on the basis of Crohn's disease in childhood. 38
11277378 2001
705
Mechanism of functional inactivation of a Li-Fraumeni syndrome p53 that has a mutation outside of the DNA-binding domain. 38
11245491 2001
706
Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. 38
11219776 2001
707
The p53 tumor suppressor: critical regulator of life & death in cancer. 38
11321044 2001
708
Genetic testing for cancer predisposition. 38
11160785 2001
709
A review of inherited cancer syndromes and their relevance to oral squamous cell carcinoma. 38
11120478 2001
710
Effects of chemopreventive and antitelomerase agents on the spontaneous immortalization of breast epithelial cells. 38
11136840 2001
711
Characterization of tumor-associated Chk2 mutations. 38
11053450 2001
712
Microsatellite instability, PTEN and p53 germline mutations in glioma families. 38
11669337 2001
713
Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations. 38
14564044 2001
714
Celebrating preimplantation genetic diagnosis of p53 mutations in Li-Fraumeni syndrome. 38
12513881 2001
715
Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice. A model for Li-Fraumeni syndrome. 38
11106587 2000
716
Use of p53 transgenic mice in the development of cancer models for multiple purposes. 38
11195457 2000
717
High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer. 38
11102977 2000
718
Hereditary common cancers: molecular and clinical genetics. 38
11205230 2000
719
Chromosome instability in fibroblasts derived from Li-Fraumeni syndrome families without TP53 mutations. 38
11027425 2000
720
Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. 38
11120338 2000
721
UV-enhanced expression of a reporter gene is induced at lower UV fluences in transcription-coupled repair deficient compared to normal human fibroblasts, and is absent in SV40-transformed counterparts. 38
11045729 2000
722
Familial cancer risks to offspring from mothers with 2 primary breast cancers: leads to cancer syndromes. 38
10962444 2000
723
Absence of germline CHK2 mutations in familial gastric cancer. 38
11011113 2000
724
Genomic alterations associated with loss of heterozygosity for TP53 in Li-Fraumeni syndrome fibroblasts. 38
10945493 2000
725
Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. 38
10980596 2000
726
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. 38
10922393 2000
727
[What is new in pediatric oncology?]. 38
10985189 2000
728
[Li-Fraumeni syndrome]. 38
10921321 2000
729
A case with extraosseous Ewing's sarcoma: a late effect related to bone marrow transplantation for thalassemia or a component of a familial cancer syndrome? 38
10914053 2000
730
What causes childhood brain tumors? Limited knowledge, many clues. 38
10971194 2000
731
[Mechanism of tumorigenesis caused by tumor suppressor gene]. 38
10879046 2000
732
[Hereditary cancer and genetic testing: the role of division of clinical and molecular genetics]. 38
10879051 2000
733
Genes implicated in hereditary breast cancer syndromes. 38
10805949 2000
734
[p53 transgenic and knockout mice]. 38
10879049 2000
735
Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial glioma. 38
10797439 2000
736
Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. 38
10739763 2000
737
Decreased DNA repair efficiency by loss or disruption of p53 function preferentially affects removal of cyclobutane pyrimidine dimers from non-transcribed strand and slow repair sites in transcribed strand. 38
10753968 2000
738
A germ-line p53 mutation accelerates pulmonary tumorigenesis: p53-independent efficacy of chemopreventive agents green tea or dexamethasone/myo-inositol and chemotherapeutic agents taxol or adriamycin. 38
10706103 2000
739
Elevated frequency and functional activity of a specific germ-line p53 intron mutation in familial breast cancer. 38
10706125 2000
740
The role of the p53 tumor suppressor in the response of human cells to photofrin-mediated photodynamic therapy. 38
10687395 2000
741
The relationship between angiogenesis and the immune response in carcinogenesis and the progression of malignant disease. 38
10741273 2000
742
Predominance of brain tumors in an extended Li-Fraumeni (SBLA) kindred, including a case of Sturge-Weber syndrome. 38
10640978 2000
743
Analysis of Li-Fraumeni syndrome and Li-Fraumeni-like families for germline mutations in Bcl10. 38
10660104 1999
744
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 38
10521299 1999
745
Familial and metachronous malignant lymphoma: absence of constitutional p53 mutations. 38
10539880 1999
746
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 38
10486318 1999
747
Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer. 38
10645809 1999
748
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 38
10484981 1999
749
Role for p53 in the recovery of transcription and protection against apoptosis induced by ultraviolet light. 38
10935482 1999
750
p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome. 38
10435620 1999
751
Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2. 38
10432928 1999
752
Familial gastric cancer: clinicopathological characteristics, RER phenotype and germline p53 and E-cadherin mutations. 38
10357799 1999
753
[The mutational spectra of gene p53 in different types of tumors]. 38
10474858 1999
754
Management of women with a family history of breast cancer. 38
10665131 1999
755
Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations. 38
10206274 1999
756
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. 38
10389970 1999
757
The need for dynamic methods for measuring cell cycle perturbations: a study in radiation-treated lymphoblastoid cell lines of varying p53 status. 38
10371300 1999
758
Telomeric length in individuals and cell lines with altered p53 status. 38
10030619 1999
759
Analysis of the p53 Status of Tumors : An Overview of Methods. 38
21374038 1999
760
Defective control of apoptosis, radiosensitivity, and spindle checkpoint in ataxia telangiectasia. 38
9810001 1998
761
Li-Fraumeni syndrome - What does it mean for the general practitioner and general paediatrician? 38
20401224 1998
762
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. 38
9792154 1998
763
Primary embryonal rhabdomyosarcoma of the breast in an adolescent female: a case report. 38
9802822 1998
764
Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation. 38
9839505 1998
765
Ethics of predictive DNA-testing for hereditary breast and ovarian cancer. 38
9832896 1998
766
Li-Fraumeni syndrome and osteosarcoma of the maxilla. 38
9734777 1998
767
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. 38
9764816 1998
768
Selective use of PET scan in the preoperative staging of NSCLC. 38
9857995 1998
769
Screening of germline mutations in the CDK4, CDKN2C and TP53 genes in familial melanoma: a clinic-based population study. 38
9724087 1998
770
Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation. 38
9707425 1998
771
Telomerase activity during spontaneous immortalization of Li-Fraumeni syndrome skin fibroblasts. 38
9715272 1998
772
Aberrant p21WAF1-dependent growth arrest as the possible mechanism of abnormal resistance to ultraviolet light cytotoxicity in Li-Fraumeni syndrome fibroblast strains heterozygous for TP53 mutations. 38
9704919 1998
773
Multiple synchronous lung cancers and atypical adenomatous hyperplasia in Li-Fraumeni syndrome. 38
9726049 1998
774
Mutations in adrenocortical tumors. 38
9694578 1998
775
Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family. 38
9703430 1998
776
Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. 38
9667734 1998
777
Chromosome instability is a predominant trait of fibroblasts from Li-Fraumeni families. 38
9649131 1998
778
Fine-needle aspiration biopsy of skeletal versus extraskeletal osteosarcoma. 38
9678733 1998
779
Germ-line-derived hinge domain p53 mutants have lost apoptotic but not cell cycle arrest functions. 38
9605765 1998
780
Multiple primary cancers in families with Li-Fraumeni syndrome. 38
9554443 1998
781
Breast cancer genes and the surgeon. 38
9579377 1998
782
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours. 38
9569035 1998
783
Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. 38
9598730 1998
784
An oncogenic form of p53 confers a dominant, gain-of-function phenotype that disrupts spindle checkpoint control. 38
9560247 1998
785
Impaired DNA repair capacity in skin fibroblasts from various hereditary cancer-prone syndromes. 38
9637247 1998
786
Identification and characterization of families with aggregation of lung cancer. 38
9614442 1998
787
Li-Fraumeni syndrome and the role of the p53 tumor suppressor gene in cancer susceptibility. 38
9504235 1998
788
Inherited susceptibility to breast and ovarian cancer. 38
9484622 1998
789
A database of germline p53 mutations in cancer-prone families. 38
9399838 1998
790
[Germline mutations of the p53 gene]. 38
9769948 1997
791
Capacity of UV-irradiated human fibroblasts to support adenovirus DNA synthesis correlates with transcription-coupled repair and is reduced in SV40-transformed cells and cells expressing mutant p53. 38
9383988 1997
792
Expression of wild-type p53 is required for efficient global genomic nucleotide excision repair in UV-irradiated human fibroblasts. 38
9346961 1997
793
G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. 38
9343108 1997
794
The epidemiology of soft tissue sarcoma. 38
9344316 1997
795
The Li-Fraumeni syndrome: an inherited susceptibility to cancer. 38
9302689 1997
796
Second malignant neoplasms occuring in survivors of osteosarcoma. 38
9307198 1997
797
A p53-independent pathway for induction of p21waf1cip1 and concomitant G1 arrest in UV-irradiated human skin fibroblasts. 38
9270002 1997
798
atm and p53 cooperate in apoptosis and suppression of tumorigenesis, but not in resistance to acute radiation toxicity. 38
9241281 1997
799
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 38
9242456 1997
800
[Li-Fraumeni syndrome]. 38
9339200 1997
801
Third international workshop on collaborative interdisciplinary studies of p53 and other predisposing genes in Li-Fraumeni syndrome. 38
9149899 1997
802
DNA damage-associated dysregulation of the cell cycle and apoptosis control in cells with germ-line p53 mutation. 38
9157982 1997
803
Genetic interactions between atm and p53 influence cellular proliferation and irradiation-induced cell cycle checkpoints. 38
9135004 1997
804
Familial aggregation of soft tissue sarcomas: a report of three cases from a Li-Fraumeni-like family. 38
9167603 1997
805
A novel germ line p53 mutation in intron 6 in diverse childhood malignancies. 38
9129144 1997
806
Molecular epidemiology study of a suspected community cluster of childhood cancers. 38
9078319 1997
807
A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene. 38
9047394 1997
808
p53: functions, mutations and sarcomas. 38
9057590 1997
809
Wildtype p53 is required for heat shock and ultraviolet light enhanced repair of a UV-damaged reporter gene. 38
9054614 1997
810
Advances in molecular genetics. 38
9046882 1997
811
Astrocytoma and pineoblastoma arising sequentially in the fourth ventricle of the same patient. Case report and molecular analysis. 38
9361116 1997
812
Germline p53 mutation at codon 133 in a cancer-prone family. 38
9020384 1997
813
Three germline mutations in the TP53 gene. 38
9067756 1997
814
Soft tissue tumours: the impact of cytogenetics and molecular genetics. 38
9474886 1997
815
Extended lifespan and immortalization of human fibroblasts induced by X-ray irradiation. 38
9022808 1997
816
Li-Fraumeni syndrome in pediatric patients with soft tissue sarcoma or osteosarcoma. 38
9291635 1997
817
Cell cycle arrest defect in Li-Fraumeni Syndrome: a mechanism of cancer predisposition? 38
9018113 1997
818
[Molecular genetics of hereditary breast carcinoma]. 38
9173760 1997
819
Tumors associated with p53 germline mutations: a synopsis of 91 families. 38
9006316 1997
820
Li-Fraumeni syndrome--a molecular and clinical review. 38
9218725 1997
821
[A method for detection of germinal mutations in the p53 tumor suppressor gene]. 38
9005123 1996
822
Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method. 38
8955618 1996
823
Glioblastoma multiforme: radiologic-pathologic correlation. 38
8946545 1996
824
The p53-deficient mouse: a model for basic and applied cancer studies. 38
9110404 1996
825
Expression of p21 is not required for senescence of human fibroblasts. 38
8840965 1996
826
No defect in G1/S cell cycle arrest in irradiated Li-Fraumeni lymphoblastoid cell lines. 38
8795570 1996
827
Absence of germline mutations in exons 5-9 of the p53 gene in patients with Li-Fraumeni-like (SBLA) and familial adenomatous polyposis heritable cancer syndromes. 38
8830720 1996
828
Clinical and research issues in breast cancer genetics. 38
8879357 1996
829
Association of extended in vitro proliferative potential with loss of p16INK4 expression. 38
8808700 1996
830
A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier. 38
8780740 1996
831
[Hereditary breast cancers]. 38
8848674 1996
832
A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome. 38
8869100 1996
833
A novel p53 germline alteration identified in a late onset breast cancer kindred. 38
8710380 1996
834
Patterns of childhood cancer among siblings. 38
8679450 1996
835
Biological and clinical importance of the p53 tumor suppressor gene. 38
8665676 1996
836
[Role of tumor marker in the presymptomatic diagnosis of hereditary malignant tumors]. 38
8691615 1996
837
Analysis of genomic instability in Li-Fraumeni fibroblasts with germline p53 mutations. 38
8649766 1996
838
Inheritance of abnormal expression of SOS-like response in xeroderma pigmentosum and hereditary cancer-prone syndromes. 38
8653707 1996
839
A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome. 38
8649785 1996
840
Role of transcription-coupled DNA repair in susceptibility to environmental carcinogenesis. 38
8781381 1996
841
Mechanisms for the involvement of DNA methylation in colon carcinogenesis. 38
8625314 1996
842
Genetic basis of tumour development. 38
8842841 1996
843
The p53 gene in pediatric therapy-related leukemia and myelodysplasia. 38
8639798 1996
844
Faulty DNA polymerase delta/epsilon-mediated excision repair in response to gamma radiation or ultraviolet light in p53-deficient fibroblast strains from affected members of a cancer-prone family with Li-Fraumeni syndrome. 38
8625479 1996
845
Clonal analysis of bilateral breast cancer. 38
9816225 1996
846
The U.S.-Japan Cooperative Cancer Research Program: some highlights of seminars, interdisciplinary program area, 1981-1996. 38
8613422 1996
847
[Molecular cancer epidemiology--the present status and future possibilities]. 38
8720930 1996
848
Bilateral primary uveal melanoma. Bad luck or bad genes? 38
8594511 1996
849
Transcriptional activation of the human proliferating-cell nuclear antigen promoter by p53. 38
8570655 1996
850
Epidemiology of susceptibility to breast cancer. 38
8895988 1996
851
Genetic heterogeneity in breast cancer susceptibility. 38
8695152 1996
852
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 38
8825920 1995
853
Incidence of germ-line p53 mutations in patients with gliomas. 38
8550239 1995
854
[Hereditary hematopoietic malignancy with emphasis of juvenile chronic myelogenous leukemia and 7 monosomy syndrome]. 38
8538036 1995
855
Identification and management of inherited cancer susceptibility. 38
8741802 1995
856
[Li-Fraumeni syndrome]. 38
8538047 1995
857
[Cancer family syndrome in lung cancer--Li-Fraumeni syndrome in lung cancer]. 38
8538032 1995
858
The p53 gene and its role in human brain tumors. 38
8586466 1995
859
The genetics of breast and ovarian cancer. 38
7547224 1995
860
Characterization of the signal transduction pathway mediating gamma ray-induced inhibition of DNA synthesis in human cells: indirect evidence for involvement of calmodulin but not protein kinase C nor p53. 38
7478584 1995
861
Effects of genetic background on tumorigenesis in p53-deficient mice. 38
7546219 1995
862
Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in global DNA repair but exhibit normal transcription-coupled repair and enhanced UV resistance. 38
7568035 1995
863
Alterations in p53 and p16INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts. 38
7651392 1995
864
Complex replication error causes p53 mutation in a Li-Fraumeni family. 38
7614454 1995
865
[Tumor suppressor gen mutation in the germ line: its significance in familial and sporadic tumors]. 38
7676234 1995
866
Genomic stability and wild-type p53 function of lymphoblastoid cells with germ-line p53 mutation. 38
7784096 1995
867
Characterization of a murine p53ser246 mutant equivalent to the human p53ser249 associated with hepatocellular carcinoma and aflatoxin exposure. 38
7605578 1995
868
Expression of platelet derived growth factor and platelet derived growth factor receptor mRNA in a glioblastoma from a patient with Li-Fraumeni syndrome. 38
7608673 1995
869
Abnormal pattern of post-gamma-ray DNA replication in radioresistant fibroblast strains from affected members of a cancer-prone family with Li-Fraumeni syndrome. 38
7779715 1995
870
p53 modulation of TFIIH-associated nucleotide excision repair activity. 38
7663514 1995
871
The first documentation of Li-Fraumeni syndrome in Korea. 38
8527048 1995
872
[Bilateral breast carcinoma after recurrent myxoid liposarcoma of the breast]. 38
7792276 1995
873
Met proto-oncogene product is overexpressed in tumors of p53-deficient mice and tumors of Li-Fraumeni patients. 38
7728766 1995
874
Defective G2 checkpoint function in cells from individuals with familial cancer syndromes. 38
7712486 1995
875
[P53 and cancers]. 38
7675543 1995
876
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 38
7887414 1995
877
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. 38
7783166 1995
878
Aflatoxin B1-induced immortalization of cultured skin fibroblasts from a patient with Li-Fraumeni syndrome. 38
7834802 1995
879
Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome. 38
7799951 1995
880
ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data. 38
7713397 1995
881
First, do no harm. 38
11654200 1995
882
Truth and confidentiality without harm. 38
11654201 1995
883
Predictive testing and oncogenes. 38
11654202 1995
884
Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53. 38
7981072 1994
885
Collaborative interdisciplinary studies of p53 and other predisposing genes in Li-Fraumeni syndrome. 38
7881346 1994
886
Genes and family environment in familial clustering of cancer. 38
7886632 1994
887
p53 and the Li-Fraumeni syndrome. 38
7819275 1994
888
A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family. 38
7936651 1994
889
High frequency of germline p53 mutations in childhood adrenocortical cancer. 38
7966399 1994
890
Novel germline mutation of the p53 tumor suppressor gene in a child with incidentally discovered adrenal cortical carcinoma. 38
7978053 1994
891
p53 gene mutation and mdm2 gene amplification are uncommon in medulloblastoma. 38
7923211 1994
892
Leukemia, lymphoma, and related disorders in families of children diagnosed with Wilms' tumor. 38
7954323 1994
893
Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family. 38
8084585 1994
894
Lack of germ-line mutations in the p53 gene exons 4 to 8 in patients with late-onset second malignant neoplasms. 38
7923066 1994
895
Single base pair germ-line deletion in the p53 gene in a cancer predisposed family. 38
8034301 1994
896
Familial cancer syndromes and clusters. 38
7987644 1994
897
The French Wilms' tumour study: no clear evidence for cancer prone families. 38
8071968 1994
898
Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma. 38
8164043 1994
899
Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation. 38
8134126 1994
900
Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. 38
8134127 1994
901
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. 38
8118819 1994
902
Germline p53 gene mutations in subsets of glioma patients. 38
8308926 1994
903
Foetal loss and infant deaths in families of children with soft-tissue sarcoma. 38
8314340 1994
904
In vitro transformation of Li-Fraumeni syndrome fibroblasts by SV40 large T antigen mutants. 38
8108114 1994
905
The role of family history in risk of childhood brain tumors. 38
8313335 1994
906
P53 gene mutations in women with breast cancer and a previous history of benign breast disease. 38
7917542 1994
907
[The p53 gene and protein in bronchial carcinogenesis:from biological to clinical aspects]. 38
7816989 1994
908
A method for estimating cancer risk in p53 mutation carriers. 38
8076379 1994
909
Genetics, prognosis and therapy of central nervous system tumors. 38
8025896 1994
910
[Li-Fraumeni syndrome and germ-line mutations of the p53 gene]. 38
8087224 1994
911
Absence of hereditary mutations in exons 5 through 9 of the p53 gene and exon 24 of the neurofibromin gene in families with glioma. 38
8285583 1994
912
[Genetics and cancer of the breast]. 38
8085754 1994
913
Li-Fraumeni syndrome. 38
7863100 1994
914
Li-Fraumeni syndrome. 38
7734204 1994
915
Cytogenetic response to G2-phase X irradiation in relation to DNA repair and radiosensitivity in a cancer-prone family with Li-Fraumeni syndrome. 38
8248481 1993
916
Predisposing genes in breast and ovarian cancer: an overview. 38
8116068 1993
917
A codon 248 p53 mutation retains tumor suppressor function as shown by enhancement of tumor growth by antisense p53. 38
8364931 1993
918
Several mutant p53 proteins detected in cancer-prone families with Li-Fraumeni syndrome exhibit transdominant effects on the biochemical properties of the wild-type p53.