TPDS
MCID: TMR010
MIFTS: 69

Tumor Predisposition Syndrome (TPDS)

Categories: Cancer diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Tumor Predisposition Syndrome

MalaCards integrated aliases for Tumor Predisposition Syndrome:

Name: Tumor Predisposition Syndrome 57 72 13 6 70
Tpds 57 72
Tumor Susceptibility Linked to Germline Bap1 Mutations 58
Bap1-Related Tumor Predisposition Syndrome 58
Syndrome, Tumor Predisposition 39
Tumor Predisposition 6

Characteristics:

Orphanet epidemiological data:

58
bap1-related tumor predisposition syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
tumor predisposition syndrome


HPO:

31
tumor predisposition syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614327
MeSH 44 D009386
Orphanet 58 ORPHA289539
MedGen 41 C3280492
UMLS 70 C3280492

Summaries for Tumor Predisposition Syndrome

OMIM® : 57 This tumor predisposition syndrome is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma (155720), cutaneous melanoma (155600), malignant mesothelioma on exposure to asbestos (156240), and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma (summary by Wiesner et al., 2011, Testa et al., 2011, Abdel-Rahman et al., 2011, and Popova et al., 2013). (614327) (Updated 05-Apr-2021)

MalaCards based summary : Tumor Predisposition Syndrome, also known as tpds, is related to bap1 tumor predisposition syndrome and atypical teratoid rhabdoid tumor. An important gene associated with Tumor Predisposition Syndrome is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. The drugs Teriparatide and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and prostate, and related phenotypes are meningioma and renal cell carcinoma

UniProtKB/Swiss-Prot : 72 Tumor predisposition syndrome: A condition characterized by predisposition to develop a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, lung adenocarcinoma and meningioma.

Related Diseases for Tumor Predisposition Syndrome

Diseases in the Tumor Predisposition Syndrome family:

Fh Tumor Predisposition Syndrome

Diseases related to Tumor Predisposition Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 bap1 tumor predisposition syndrome 33.7 BRCA2 BAP1
2 atypical teratoid rhabdoid tumor 33.4 SMARCB1 SMARCA4 BRCA2
3 rhabdoid cancer 33.0 SMARCB1 SMARCA4 CDKN2A
4 wilms tumor predisposition 32.5 DICER1 BRCA2 BLM
5 skin melanoma 31.1 CDKN2A CDH1 BRCA1 BAP1 ATM
6 rhabdomyosarcoma 30.9 SMARCB1 SMARCA4 DICER1 CDKN2A CDKN1B BRCA2
7 intrahepatic cholangiocarcinoma 30.8 CDH1 BAP1 APC
8 kidney rhabdoid cancer 30.8 SMARCB1 SMARCA4
9 small cell carcinoma 30.8 SMARCA4 CDKN2A BRCA2
10 bloom syndrome 30.7 BRCA2 BRCA1 BLM ATM
11 neurilemmomatosis 30.6 SMARCB1 SMARCA4 CDKN2A
12 inherited cancer-predisposing syndrome 30.6 SMARCB1 SMARCA4 FH DICER1 CDKN2A CDKN1B
13 cutaneous telangiectasia and cancer syndrome, familial 30.6 SMARCB1 SMARCA4 FH DICER1 CDKN2A CDKN1B
14 tetraploidy 30.4 BRCA2 BRCA1
15 medulloblastoma 30.4 SMARCB1 SMARCA4 DICER1 CDKN2A CDKN1B CDH1
16 li-fraumeni syndrome 30.4 SMARCB1 CDKN2A CDH1 BRCA2 BRCA1 BARD1
17 fanconi anemia, complementation group a 30.4 BRIP1 BRCA2 BRCA1 BLM BARD1 ATM
18 neuroblastoma 30.4 SMARCA4 DICER1 CDKN2A CDKN1B BRCA1 BARD1
19 retinoblastoma 30.3 SMARCB1 SMARCA4 CDKN2A CDKN1B BRCA2
20 brain cancer 30.3 SMARCB1 FH BRCA2 APC
21 rhabdoid tumor predisposition syndrome 2 11.7
22 rhabdoid tumor predisposition syndrome 1 11.7
23 paragangliomas 6 11.2
24 paragangliomas 7 11.2
25 dicer1 tumor predisposition 11.2
26 fh tumor predisposition syndrome 11.1
27 pleuropulmonary blastoma 11.1
28 mesothelioma, malignant 11.1
29 pot1 tumor predisposition 11.1
30 diaphyseal medullary stenosis with malignant fibrous histiocytoma 11.0
31 hereditary leiomyomatosis and renal cell cancer 11.0
32 schwannomatosis 2 11.0
33 familial adenomatous polyposis 4 11.0
34 costello syndrome 11.0
35 beckwith-wiedemann syndrome 10.9
36 legius syndrome 10.9
37 juvenile type testicular granulosa cell tumor 10.6 SMARCB1 SMARCA4 DICER1
38 testicular granulosa cell tumor 10.6 SMARCB1 SMARCA4 DICER1
39 supratentorial primitive neuroectodermal tumor 10.6 SMARCB1 DICER1 APC
40 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.6 BRCA2 BRCA1 APC
41 fallopian tube clear cell adenocarcinoma 10.6 BRCA2 BRCA1
42 ruvalcaba syndrome 10.6 BRCA2 BRCA1 BMPR1A
43 familial ovarian cancer 10.6 BRIP1 BRCA2 BRCA1
44 cervical adenoma malignum 10.6 BRCA2 BRCA1 ATM
45 mediastinum liposarcoma 10.6 CDKN2A ATM
46 synchronous bilateral breast carcinoma 10.6 BRCA2 BRCA1 ATM
47 tracheoesophageal fistula with or without esophageal atresia 10.6 BRIP1 BRCA2 AOPEP
48 keratinizing squamous cell carcinoma 10.6 SMARCB1 CDKN2A CDH1
49 t-cell prolymphocytic leukemia 10.6 SMARCB1 CDKN1B C11orf65 ATM
50 ovary transitional cell carcinoma 10.6 BRCA2 BRCA1

Graphical network of the top 20 diseases related to Tumor Predisposition Syndrome:



Diseases related to Tumor Predisposition Syndrome

Symptoms & Phenotypes for Tumor Predisposition Syndrome

Human phenotypes related to Tumor Predisposition Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 meningioma 31 HP:0002858
2 renal cell carcinoma 31 HP:0005584
3 cutaneous melanoma 31 HP:0012056
4 lung adenocarcinoma 31 HP:0030078
5 uveal melanoma 31 HP:0007716

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
meningioma

Skin Nails Hair Skin:
cutaneous melanoma
melanocytic skin tumors/papules, skin-colored to reddish-brown, dome-shaped or pedunculated, well circumscribed with an average size of 5 mm (in 2 families)

Head And Neck Eyes:
uveal melanoma

Neoplasia:
meningioma
cutaneous melanoma
uveal melanoma
mesothelioma, malignant, after asbestos exposure
renal cell carcinoma, usually clear cell type

Respiratory Lung:
lung adenocarcinoma
mesothelioma, malignant, after asbestos exposure

Skin Nails Hair Skin Histology:
dermal tumors composed of epithelioid melanocytes
abundant cytoplasm
prominent nucleoli
melanocytes contain large vesicular nuclei with varying shapes
some show atypical features, such as nuclear pleomorphism

Clinical features from OMIM®:

614327 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.94 BMPR1A CDH1 CDKN1B CDKN2A SMARCB1
2 Decreased viability GR00221-A-2 10.94 BMPR1A BRCA1 SMARCB1
3 Decreased viability GR00221-A-3 10.94 ATM BMPR1A BRCA1 CDKN2A SMARCB1
4 Decreased viability GR00221-A-4 10.94 ATM BMPR1A CDKN2A
5 Decreased viability GR00240-S-1 10.94 AIP
6 Decreased viability GR00249-S 10.94 APC BARD1 BMPR1A BRCA2 SMARCB1
7 Decreased viability GR00301-A 10.94 BRCA1 CDH1
8 Decreased viability GR00381-A-1 10.94 C11orf65 SMARCB1
9 Decreased viability GR00386-A-1 10.94 BLM BRIP1
10 Decreased viability GR00402-S-2 10.94 CDH1
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.86 BARD1 BRCA1 BRCA2
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.86 ATM BLM BRCA1 BRCA2 BRIP1
13 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.86 ATM BAP1 BARD1 BLM BRCA1 BRCA2
14 Increased ionizing radiation sensitivity GR00232-A-1 9.72 ATM BARD1 BRCA1 BRCA2 CDH1
15 Decreased viability with cisplatin GR00101-A-4 9.67 BARD1 BRCA1 BRCA2 BRIP1
16 Increased Nanog expression GR00371-A-1 9.65 AIP BARD1 BRCA2 SMARCA4 SMARCB1
17 Decreased viability after ionizing radiation GR00232-A-2 9.58 ATM BRCA1 BRCA2
18 Synthetic lethal with cisplatin GR00101-A-1 9.46 BARD1 BRCA1 BRCA2 BRIP1
19 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 APC AXIN2 BARD1 BRCA1 BRCA2 FH

MGI Mouse Phenotypes related to Tumor Predisposition Syndrome:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.55 AIP APC ATM AXIN2 BAP1 BARD1
2 embryo MP:0005380 10.49 AIP APC ATM AXIN2 BAP1 BARD1
3 growth/size/body region MP:0005378 10.47 AIP APC ATM AXIN2 BAP1 BARD1
4 cardiovascular system MP:0005385 10.45 AIP APC ATM AXIN2 BAP1 BLM
5 endocrine/exocrine gland MP:0005379 10.45 AIP APC ATM AXIN2 BAP1 BARD1
6 homeostasis/metabolism MP:0005376 10.45 AIP APC ATM BAP1 BARD1 BMPR1A
7 integument MP:0010771 10.43 AIP APC ATM AXIN2 BAP1 BLM
8 mortality/aging MP:0010768 10.41 AIP APC ATM AXIN2 BAP1 BARD1
9 immune system MP:0005387 10.35 APC ATM BAP1 BLM BMPR1A BRCA1
10 hematopoietic system MP:0005397 10.34 APC ATM BAP1 BLM BMPR1A BRCA1
11 neoplasm MP:0002006 10.34 AIP APC ATM BAP1 BARD1 BLM
12 digestive/alimentary MP:0005381 10.29 APC BAP1 BMPR1A BRCA1 BRCA2 CDH1
13 nervous system MP:0003631 10.22 APC ATM AXIN2 BARD1 BMPR1A BRCA1
14 limbs/digits/tail MP:0005371 10.11 APC AXIN2 BMPR1A BRCA1 BRCA2 BRIP1
15 muscle MP:0005369 10.11 APC BAP1 BMPR1A BRCA1 CDKN1B CDKN2A
16 liver/biliary system MP:0005370 10.1 AIP APC BRIP1 CDKN1B CDKN2A DICER1
17 normal MP:0002873 10.06 AOPEP APC AXIN2 BARD1 BLM BMPR1A
18 reproductive system MP:0005389 10 APC ATM AXIN2 BAP1 BARD1 BMPR1A
19 no phenotypic analysis MP:0003012 9.91 AXIN2 BAP1 BLM CDH1 CDKN1B CDKN2A
20 pigmentation MP:0001186 9.8 APC BMPR1A BRCA1 BRIP1 CDKN1B CDKN2A
21 skeleton MP:0005390 9.65 APC AXIN2 BMPR1A BRCA1 BRCA2 CDKN1B
22 vision/eye MP:0005391 9.28 APC AXIN2 BMPR1A BRIP1 CDKN1B CDKN2A

Drugs & Therapeutics for Tumor Predisposition Syndrome

Drugs for Tumor Predisposition Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
2 Hormone Antagonists Phase 4
3 Hormones Phase 4
4 Estrogens Phase 4
5 Estrogen Receptor Antagonists Phase 4
6 Estrogen Antagonists Phase 4
7 Calcium, Dietary Phase 4
8 Raloxifene Hydrochloride Phase 4
9 Estrogen Receptor Modulators Phase 4
10
Calcium Nutraceutical Phase 4 7440-70-2 271
11
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
12
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
13
Pertuzumab Approved Phase 3 380610-27-5, 145040-37-5 2540
14 Antineoplastic Agents, Immunological Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Enhancing Osteoporosis Therapy: Can We Open the Anabolic Window? Completed NCT01166958 Phase 4 Teriparatide;Raloxifene
2 A Randomized Phase III Study Comparing Trastuzumab, Pertuzumab Plus Docetaxel (TPD) Followed by 3 Cycles of Chemotherapy to the Current Standard Regimen as the Treatments of Early Breast Cancer Recruiting NCT02625441 Phase 3 Pertuzumab;Trastuzumab
3 Detection, Estimation and Characterization of Pulmonary Blood Pressure by Transthoracic Parametric Doppler (TPD) Terminated NCT01357746 Phase 1
4 Identification of Patients/Families With a Paediatric Tumor and One or More Developmental Abnormalities - Characterization of New Tumor Predisposition Syndromes and Study Their Molecular Basis Unknown status NCT01915797
5 European Regulatory Science on Tobacco: Policy Implementation to Reduce Lung Diseases (EUREST-PLUS) Completed NCT02773836
6 Detection and Characterization of Cardio-Pulmonary Patho-Physiological States and Diseases by Transthoracic Parametric Doppler (TPD) Completed NCT01361139
7 Prospective Evaluation of Photon Counting Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome Recruiting NCT04431024
8 Tachy Prediction Download Study Active, not recruiting NCT03402126
9 Evaluation of the Diagnostic Value of the TPD System in Determining ADHF Causing Acute Dyspnea Suspended NCT03998410
10 Monitoring and Characterization of Coronary Flow By Transthoracic Parametric Doppler (TPD) During Exercise Stress Test Terminated NCT01089777

Search NIH Clinical Center for Tumor Predisposition Syndrome

Genetic Tests for Tumor Predisposition Syndrome

Anatomical Context for Tumor Predisposition Syndrome

MalaCards organs/tissues related to Tumor Predisposition Syndrome:

40
Breast, Thyroid, Prostate, Colon, Pituitary, Brain, Skin

Publications for Tumor Predisposition Syndrome

Articles related to Tumor Predisposition Syndrome:

(show top 50) (show all 5188)
# Title Authors PMID Year
1
Germline BAP1 mutations predispose to renal cell carcinomas. 6 57 61
23684012 2013
2
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. 57 6
21941004 2011
3
Germline BAP1 mutations predispose to malignant mesothelioma. 6 57
21874000 2011
4
Germline mutations in BAP1 predispose to melanocytic tumors. 6 57
21874003 2011
5
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines. 61 6
31382694 2019
6
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. 6 61
30517737 2018
7
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma. 61 6
30477459 2018
8
Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors. 6 61
29753057 2018
9
Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. 61 6
29761599 2018
10
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. 61 6
28573494 2017
11
An 18-year-old man with recurrent pneumothorax since he was 10-year-old. 6 61
27257988 2016
12
A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer. 61 6
26774355 2016
13
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. 6 61
26096145 2016
14
Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation. 6 61
26154183 2015
15
DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter. 6 61
25451712 2014
16
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 61 6
21404119 2011
17
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 61 6
20137775 2010
18
Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer. 6
32809219 2020
19
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays. 6
32546644 2020
20
Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer. 6
32782288 2020
21
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2. 6
32398771 2020
22
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. 6
31558676 2020
23
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype. 6
30858171 2020
24
A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer. 6
32041497 2020
25
BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases. 6
32359370 2020
26
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. 6
32438681 2020
27
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. 6
31965077 2020
28
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer. 6
32125938 2020
29
Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL. 6
31916644 2020
30
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls. 6
31214711 2020
31
Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls. 6
32300229 2020
32
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort. 6
31853058 2020
33
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer. 6
32183364 2020
34
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. 6
31746132 2020
35
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. 6
31825140 2020
36
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants. 6
32113160 2020
37
Clinical Evaluation of BRCA1/2 Mutation in Mexican Ovarian Cancer Patients. 6
31869745 2020
38
Integration of Comprehensive Genomic Analysis and Functional Screening of Affected Molecular Pathways to Inform Cancer Therapy. 6
31685261 2020
39
Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients. 6
31786208 2020
40
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population. 6
32039725 2020
41
Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition. 6
31076742 2020
42
Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients. 6
31768816 2020
43
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer. 6
32075053 2020
44
MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas. 6
31783044 2020
45
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. 6
31492822 2020
46
Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon. 6
31871109 2020
47
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. 6
31595648 2020
48
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. 6
31444830 2020
49
Correction: Novel Insight into Mutational Landscape of Head and Neck Squamous Cell Carcinoma. 6
32401780 2020
50
Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients. 6
31706072 2020

Variations for Tumor Predisposition Syndrome

ClinVar genetic disease variations for Tumor Predisposition Syndrome:

6 (show top 50) (show all 68588)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) SNV Pathogenic/Likely pathogenic, risk factor 822 rs1801155 GRCh37: 5:112175211-112175211
GRCh38: 5:112839514-112839514
2 BRCA2 NM_000059.3(BRCA2):c.7613_7614dup (p.Gln2539fs) Duplication Pathogenic 630757 rs1566242216 GRCh37: 13:32930740-32930741
GRCh38: 13:32356603-32356604
3 BRCA1 NM_007294.4(BRCA1):c.2740_2750del (p.Glu914fs) Deletion Pathogenic 630808 rs1567794393 GRCh37: 17:41244798-41244808
GRCh38: 17:43092781-43092791
4 BRCA2 NM_000059.3(BRCA2):c.2122del (p.Ser708fs) Deletion Pathogenic 630868 rs1566226165 GRCh37: 13:32910613-32910613
GRCh38: 13:32336476-32336476
5 BRCA2 NM_000059.3(BRCA2):c.8350del (p.Arg2784fs) Deletion Pathogenic 630953 rs1566248664 GRCh37: 13:32944557-32944557
GRCh38: 13:32370420-32370420
6 APC NM_000038.6(APC):c.26_27insTTTA (p.Leu9fs) Insertion Pathogenic 630969 rs1561444605 GRCh37: 5:112090613-112090614
GRCh38: 5:112754916-112754917
7 ATM NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) SNV Pathogenic 189177 rs786204751 GRCh37: 11:108175420-108175420
GRCh38: 11:108304693-108304693
8 BRCA2 NM_000059.3(BRCA2):c.4525C>T (p.Gln1509Ter) SNV Pathogenic 51659 rs80358683 GRCh37: 13:32913017-32913017
GRCh38: 13:32338880-32338880
9 NTHL1 NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) SNV Pathogenic 192319 rs150766139 GRCh37: 16:2096239-2096239
GRCh38: 16:2046238-2046238
10 BRCA1 NM_007294.4(BRCA1):c.4414del (p.Leu1472fs) Deletion Pathogenic 631389 rs1567779686 GRCh37: 17:41228575-41228575
GRCh38: 17:43076558-43076558
11 BRCA2 NM_000059.3(BRCA2):c.3880_3884del (p.Leu1294fs) Deletion Pathogenic 631347 rs1566229335 GRCh37: 13:32912371-32912375
GRCh38: 13:32338234-32338238
12 BRCA1 NM_007294.4(BRCA1):c.105dup (p.Ser36fs) Duplication Pathogenic 631234 rs1567817957 GRCh37: 17:41267771-41267772
GRCh38: 17:43115754-43115755
13 BRCA1 NM_007294.4(BRCA1):c.4165del (p.Ser1389fs) Deletion Pathogenic 631227 rs1567788282 GRCh37: 17:41242981-41242981
GRCh38: 17:43090964-43090964
14 BRCA1 NM_007294.4(BRCA1):c.1041del (p.Cys348fs) Deletion Pathogenic 818303 rs1597878453 GRCh37: 17:41246507-41246507
GRCh38: 17:43094490-43094490
15 BRCA1 NM_007294.4(BRCA1):c.1133del (p.Ser378fs) Deletion Pathogenic 818400 rs1597877892 GRCh37: 17:41246415-41246415
GRCh38: 17:43094398-43094398
16 BLM NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter) Duplication Pathogenic 818492 rs1596228957 GRCh37: 15:91303460-91303461
GRCh38: 15:90760230-90760231
17 APC NM_000038.6(APC):c.1180C>T (p.Gln394Ter) SNV Pathogenic 818506 rs770507436 GRCh37: 5:112154909-112154909
GRCh38: 5:112819212-112819212
18 BRCA2 NM_000059.3(BRCA2):c.1202C>G (p.Ser401Ter) SNV Pathogenic 51081 rs80358413 GRCh37: 13:32906817-32906817
GRCh38: 13:32332680-32332680
19 APC NM_000038.6(APC):c.1192_1193del (p.Lys398fs) Deletion Pathogenic 828 rs387906238 GRCh37: 5:112154921-112154922
GRCh38: 5:112819224-112819225
20 APC NM_000038.6(APC):c.1239dup (p.Arg414fs) Duplication Pathogenic 246085 rs879254088 GRCh37: 5:112154967-112154968
GRCh38: 5:112819270-112819271
21 APC NM_000038.6(APC):c.1283_1293del (p.Glu428fs) Deletion Pathogenic 818790 rs1580531483 GRCh37: 5:112155008-112155018
GRCh38: 5:112819311-112819321
22 APC NM_000038.6(APC):c.1286del (p.Pro429fs) Deletion Pathogenic 818804 rs1580531584 GRCh37: 5:112155014-112155014
GRCh38: 5:112819317-112819317
23 BRCA2 NM_000059.4(BRCA2):c.1288del (p.Asp430fs) Deletion Pathogenic 818810 rs1593892424 GRCh37: 13:32906903-32906903
GRCh38: 13:32332766-32332766
24 BLM NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) SNV Pathogenic 555723 rs754203833 GRCh37: 15:91303904-91303904
GRCh38: 15:90760674-90760674
25 BRCA1 NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer) Deletion Pathogenic 803420 rs1597911705 GRCh37: 17:41267745-41267746
GRCh38: 17:43115728-43115729
26 APC NM_000038.6(APC):c.1346del (p.Ala449fs) Deletion Pathogenic 818907 rs1580542168 GRCh37: 5:112157626-112157626
GRCh38: 5:112821929-112821929
27 BRCA1 NM_007294.4(BRCA1):c.134_135del (p.Lys45fs) Deletion Pathogenic 54208 rs397508857 GRCh37: 17:41267743-41267744
GRCh38: 17:43115726-43115727
28 APC NM_000038.6(APC):c.1348_1349GT[3] (p.Val452fs) Microsatellite Pathogenic 537527 rs1554080698 GRCh37: 5:112157627-112157628
GRCh38: 5:112821930-112821931
29 BRCA2 NM_000059.4(BRCA2):c.1370del (p.Lys457fs) Deletion Pathogenic 819012 rs1593892663 GRCh37: 13:32906984-32906984
GRCh38: 13:32332847-32332847
30 APC NM_000038.6(APC):c.1409-2A>C SNV Pathogenic 419874 rs1064794163 GRCh37: 5:112162803-112162803
GRCh38: 5:112827106-112827106
31 BRCA1 NM_007294.4(BRCA1):c.1434del (p.Glu479fs) Deletion Pathogenic 96900 rs431825386 GRCh37: 17:41246114-41246114
GRCh38: 17:43094097-43094097
32 BRCA2 NM_000059.4(BRCA2):c.1465del (p.Ser489fs) Deletion Pathogenic 819188 rs1593892953 GRCh37: 13:32907080-32907080
GRCh38: 13:32332943-32332943
33 BRCA2 NM_000059.4(BRCA2):c.1433del (p.Thr478fs) Deletion Pathogenic 819201 rs1593892854 GRCh37: 13:32907048-32907048
GRCh38: 13:32332911-32332911
34 BLM NM_000057.4(BLM):c.1440dup (p.Ala481fs) Duplication Pathogenic 819226 rs1596229894 GRCh37: 15:91304042-91304043
GRCh38: 15:90760812-90760813
35 BRCA1 NM_007294.4(BRCA1):c.1444_1447dup (p.Ile483fs) Duplication Pathogenic 819234 rs80357801 GRCh37: 17:41246100-41246101
GRCh38: 17:43094083-43094084
36 BRCA2 NM_000059.4(BRCA2):c.1457del (p.Gln486fs) Deletion Pathogenic 819265 rs1593892928 GRCh37: 13:32907072-32907072
GRCh38: 13:32332935-32332935
37 APC NM_000038.6(APC):c.145A>T (p.Lys49Ter) SNV Pathogenic 819274 rs1581160030 GRCh37: 5:112102032-112102032
GRCh38: 5:112766335-112766335
38 BRCA1 NM_007294.4(BRCA1):c.1523del (p.Pro508fs) Deletion Pathogenic 54285 rs80357782 GRCh37: 17:41246025-41246025
GRCh38: 17:43094008-43094008
39 APC NM_000038.6(APC):c.1525_1527delinsGAGATGTAGCCTTTGAGATGTTGGC (p.Thr509delinsGluMetTer) Indel Pathogenic 819453 rs1580565841 GRCh37: 5:112162921-112162923
GRCh38: 5:112827224-112827226
40 APC NM_000038.6(APC):c.1529_1530del (p.Phe510fs) Deletion Pathogenic 819459 rs1554081749 GRCh37: 5:112162923-112162924
GRCh38: 5:112827226-112827227
41 BRCA1 NM_007294.3(BRCA1):c.1511dupG (p.Lys505Terfs) Duplication Pathogenic 54279 rs80357817 GRCh37: 17:41246036-41246037
GRCh38: 17:43094019-43094020
42 BRCA1 NM_007294.4(BRCA1):c.1568del (p.Leu523fs) Deletion Pathogenic 522623 rs1555591543 GRCh37: 17:41245980-41245980
GRCh38: 17:43093963-43093963
43 BRCA2 NM_000059.4(BRCA2):c.1568_1569AT[3] (p.Met524fs) Microsatellite Pathogenic 819570 rs863224824 GRCh37: 13:32907182-32907183
GRCh38: 13:32333045-32333046
44 BRCA2 NM_000059.3(BRCA2):c.15del (p.Glu7fs) Deletion Pathogenic 421342 rs1064795072 GRCh37: 13:32890611-32890611
GRCh38: 13:32316474-32316474
45 BRCA2 NM_000059.3(BRCA2):c.1595_1599del (p.Glu532fs) Deletion Pathogenic 51150 rs80359291 GRCh37: 13:32907210-32907214
GRCh38: 13:32333073-32333077
46 BRCA2 NM_000059.3(BRCA2):c.1599_1600del (p.Glu534fs) Deletion Pathogenic 51154 rs80359293 GRCh37: 13:32907214-32907215
GRCh38: 13:32333077-32333078
47 APC NM_000038.6(APC):c.1627-1G>A SNV Pathogenic 819698 rs1580573847 GRCh37: 5:112164552-112164552
GRCh38: 5:112828855-112828855
48 APC NM_000038.6(APC):c.1624C>T (p.Gln542Ter) SNV Pathogenic 819693 rs1580569680 GRCh37: 5:112163701-112163701
GRCh38: 5:112828004-112828004
49 BLM NM_000057.4(BLM):c.1624del (p.Asp542fs) Deletion Pathogenic 819694 rs747498968 GRCh37: 15:91304227-91304227
GRCh38: 15:90760997-90760997
50 APC NM_000038.6(APC):c.1659G>A (p.Trp553Ter) SNV Pathogenic 92340 rs398123116 GRCh37: 5:112164585-112164585
GRCh38: 5:112828888-112828888

Cosmic variations for Tumor Predisposition Syndrome:

9 (show top 50) (show all 35823)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88263727 ZRSR2 lung,NS,carcinoma,adenocarcinoma c.937+1G>T p.? 23:15820317-15820317 6
2 COSM95442728 ZMYND10 lung,NS,carcinoma,adenocarcinoma c.128A>G p.N43S 3:50345197-50345197 6
3 COSM85262562 ZMYND10 lung,NS,carcinoma,adenocarcinoma c.622C>T p.R208C 3:50342996-50342996 6
4 COSM85263435 ZMYND10 lung,NS,carcinoma,adenocarcinoma c.128A>G p.N43S 3:50345197-50345197 6
5 COSM95441934 ZMYND10 lung,NS,carcinoma,adenocarcinoma c.599+122C>T p.? 3:50342996-50342996 6
6 COSM143112283 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.94G>A p.G32R 13:19993166-19993166 6
7 COSM101592316 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.94G>A p.G32R 13:19993166-19993166 6
8 COSM101606460 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.95G>A p.G32E 13:19993167-19993167 6
9 COSM101614868 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.369G>C p.E123D 13:19993441-19993441 6
10 COSM101585076 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.95G>A p.G32E 13:19993167-19993167 6
11 COSM101614672 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.94G>A p.G32R 13:19993166-19993166 6
12 COSM143112460 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.369G>C p.E123D 13:19993441-19993441 6
13 COSM143103178 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.95G>A p.G32E 13:19993167-19993167 6
14 COSM101592471 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.369G>C p.E123D 13:19993441-19993441 6
15 COSM102032968 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.-23-7406A>C p.? 16:72958371-72958371 6
16 COSM102040512 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1439C>A p.S480* 16:72798501-72798501 6
17 COSM102043690 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.8060C>T p.S2687L 16:72787474-72787474 6
18 COSM87286137 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3340C>G p.R1114G 16:72889839-72889839 6
19 COSM102031099 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.7886C>A p.A2629D 16:72787648-72787648 6
20 COSM149303773 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3340C>G p.R1114G 16:72889839-72889839 6
21 COSM149318853 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.331G>A p.E111K 16:72959815-72959815 6
22 COSM149318882 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2680G>T p.D894Y 16:72957466-72957466 6
23 COSM149268808 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.256G>T p.A86S 16:72959890-72959890 6
24 COSM102042371 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.-23-6501G>T p.? 16:72957466-72957466 6
25 COSM102037223 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.-23-7773G>T p.? 16:72958738-72958738 6
26 COSM149260552 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10961C>T p.S3654L 16:72787315-72787315 6
27 COSM87273791 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2755G>T p.G919C 16:72950930-72950930 6
28 COSM87274581 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.7769C>G p.S2590C 16:72794913-72794913 6
29 COSM87284855 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.4834G>C p.E1612Q 16:72797848-72797848 6
30 COSM149303017 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2701G>A p.A901T 16:72957445-72957445 6
31 COSM102022101 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.6240C>G p.F2080L 16:72793700-72793700 6
32 COSM102032971 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.-23-7046G>T p.? 16:72958011-72958011 6
33 COSM87287980 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2767G>T p.V923L 16:72950918-72950918 6
34 COSM149309579 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2767G>T p.V923L 16:72950918-72950918 6
35 COSM102028052 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2928G>C p.Q976H 16:72797012-72797012 6
36 COSM149263533 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1910G>A p.G637E 16:72958236-72958236 6
37 COSM149322707 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10802C>T p.S3601L 16:72787474-72787474 6
38 COSM87279299 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.6293C>T p.S2098L 16:72796389-72796389 6
39 COSM149327483 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1582C>T p.Q528* 16:72958564-72958564 6
40 COSM87274095 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.628G>T p.G210C 16:72959518-72959518 6
41 COSM102037726 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.689G>T p.C230F 16:72889748-72889748 6
42 COSM102022617 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.13G>T p.G5C 16:72950930-72950930 6
43 COSM149265687 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.8982C>G p.F2994L 16:72793700-72793700 6
44 COSM87281915 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.6289T>G p.F2097V 16:72796393-72796393 6
45 COSM149269636 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.7769C>G p.S2590C 16:72794913-72794913 6
46 COSM102047871 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3243C>G p.I1081M 16:72796697-72796697 6
47 COSM149263422 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.941G>A p.R314Q 16:72959205-72959205 6
48 COSM102041859 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1021C>T p.P341S 16:72811678-72811678 6
49 COSM87272331 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.941G>A p.R314Q 16:72959205-72959205 6
50 COSM149290601 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10628C>A p.A3543D 16:72787648-72787648 6

Expression for Tumor Predisposition Syndrome

Search GEO for disease gene expression data for Tumor Predisposition Syndrome.

Pathways for Tumor Predisposition Syndrome

Pathways related to Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 CDKN2A CDKN1B BRIP1 BRCA2 BRCA1 BLM
2
Show member pathways
13.16 BRIP1 BRCA2 BRCA1 BLM BARD1 BAP1
3
Show member pathways
12.87 CDKN2A CDKN1B BRIP1 BRCA1 BLM BARD1
4
Show member pathways
12.84 FH CDKN2A CDKN1B AXIN2 APC AIP
5
Show member pathways
12.81 CDKN2A CDKN1B CDH1 BRCA2 AXIN2 APC
6
Show member pathways
12.77 BRCA1 BARD1 BAP1 AXIN2 APC
7 12.73 FH CDKN2A CDKN1B CDH1 BRCA2 AXIN2
8
Show member pathways
12.63 CDKN1B BRCA2 BRCA1 BARD1 ATM
9
Show member pathways
12.62 CDKN2A CDKN1B CDH1 BRCA2 BRCA1 ATM
10
Show member pathways
12.54 CDKN1B BRIP1 BRCA1 BLM BARD1 ATM
11
Show member pathways
12.48 SMARCB1 SMARCA4 CDKN2A CDKN1B CDH1 BRCA2
12 12.45 DICER1 CDKN2A CDKN1B BRCA1 ATM APC
13
Show member pathways
12.42 BRCA2 BRCA1 BLM ATM
14 12.33 SMARCA4 CDKN2A CDKN1B BRIP1 BRCA2 BRCA1
15
Show member pathways
12.32 CDKN2A CDKN1B BRCA1 ATM
16 12.31 CDKN2A CDKN1B CDH1 ATM APC
17
Show member pathways
12.3 BRCA1 BARD1 BAP1 ATM
18
Show member pathways
12.18 BRIP1 BRCA2 BRCA1 BLM BARD1 ATM
19 12.1 CDH1 BMPR1A AXIN2 APC
20
Show member pathways
12.02 BRIP1 BRCA2 BRCA1 BLM BARD1 ATM
21 11.94 CDKN2A CDKN1B ATM APC
22 11.83 BRIP1 BRCA2 BRCA1 BLM
23 11.72 SMARCA4 CDH1 AXIN2 APC
24 11.68 CDKN2A BRCA1 ATM
25 11.67 CDKN1B BRCA1 ATM
26 11.62 CDKN1B BLM ATM
27 11.54 SMARCB1 SMARCA4 CDKN1B
28
Show member pathways
11.42 SMARCB1 SMARCA4 BRCA2 BRCA1 BLM BARD1
29 11.41 SMARCA4 CDH1 BRCA2 BRCA1 BMPR1A BLM
30 11.38 BRCA1 BLM BARD1 ATM
31 11.38 CDKN1B BRCA1 BLM BARD1 ATM
32 11.21 BRCA1 BARD1 ATM
33
Show member pathways
10.86 DICER1