MCID: INH023
MIFTS: 53

Inherited Cancer-Predisposing Syndrome

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Inherited Cancer-Predisposing Syndrome

MalaCards integrated aliases for Inherited Cancer-Predisposing Syndrome:

Name: Inherited Cancer-Predisposing Syndrome 58
Hereditary Cancer-Predisposing Syndrome 29 6

Classifications:



External Ids:

Orphanet 58 ORPHA140162

Summaries for Inherited Cancer-Predisposing Syndrome

MalaCards based summary : Inherited Cancer-Predisposing Syndrome, also known as hereditary cancer-predisposing syndrome, is related to fanconi anemia, complementation group d1 and bap1 tumor predisposition syndrome. An important gene associated with Inherited Cancer-Predisposing Syndrome is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and colon, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Inherited Cancer-Predisposing Syndrome

Diseases related to Inherited Cancer-Predisposing Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group d1 32.8 PALB2 FANCC BRIP1 BRCA2 BRCA1
2 bap1 tumor predisposition syndrome 32.7 PALB2 BRCA2 BAP1
3 b-lymphoblastic leukemia/lymphoma with t 10.6 PALB2 BMPR1A APC
4 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.6 BRCA2 BRCA1 APC
5 fallopian tube clear cell adenocarcinoma 10.6 BRCA2 BRCA1
6 ruvalcaba syndrome 10.6 BRCA2 BRCA1 BMPR1A
7 familial ovarian cancer 10.6 BRIP1 BRCA2 BRCA1
8 synchronous bilateral breast carcinoma 10.6 BRCA2 BRCA1 ATM
9 breast-ovarian cancer, familial 1 10.6 PALB2 BRCA2 BRCA1
10 mediastinum liposarcoma 10.6 CDKN2A ATM
11 fallopian tube disease 10.6 PALB2 BRCA2 BRCA1
12 female breast cancer 10.6 PALB2 BRCA2 BRCA1 ATM
13 wilms tumor predisposition 10.6 DICER1 BRCA2 BLM
14 adenoma 10.6 CDKN2A CDH1 AXIN2 APC AIP
15 fanconi anemia, complementation group n 10.6 PALB2 FANCC BRIP1 BRCA2
16 ovary transitional cell carcinoma 10.6 BRCA2 BRCA1
17 cervical adenoma malignum 10.6 PALB2 CHEK2 BRCA2 BRCA1 ATM
18 dysplastic nevus syndrome 10.6 PALB2 CDKN2A BRCA2 BRCA1 ATM
19 lobular neoplasia 10.6 CDH1 BRCA2 BRCA1
20 diffuse gastric cancer 10.6 PALB2 CDH1 ATM
21 t-cell prolymphocytic leukemia 10.6 CHEK2 CDKN1B C11orf65 ATM
22 peritoneum cancer 10.6 PALB2 CDKN2A BRCA2 BRCA1 BAP1
23 tracheoesophageal fistula with or without esophageal atresia 10.6 PALB2 FANCC BRIP1 BRCA2 AOPEP
24 thoracic benign neoplasm 10.6 CDH1 BRCA2 BRCA1
25 fallopian tube carcinoma 10.6 PALB2 CDKN1B BRCA2 BRCA1 BARD1
26 breast benign neoplasm 10.6 CDH1 BRCA2 BRCA1
27 retinal cancer 10.6 CDKN2A CDKN1B ATM APC
28 colonic benign neoplasm 10.6 CDH1 AXIN2 APC
29 colorectal adenocarcinoma 10.6 CDKN2A CDH1 ATM APC
30 nijmegen breakage syndrome 10.6 CHEK2 BRCA1 BLM ATM
31 fanconi anemia, complementation group j 10.6 PALB2 FANCC BRIP1 BRCA2 BRCA1
32 diffuse midline glioma, h3 k27m-mutant 10.6 CHEK2 BRIP1 BRCA2
33 ovary adenocarcinoma 10.6 CDKN2A CDH1 BRCA2 BRCA1
34 familial colorectal cancer 10.6 CHEK2 CDH1 BRCA2 BLM APC
35 malignant peritoneal mesothelioma 10.6 CDKN2A BAP1
36 basaloid lung carcinoma 10.6 BRCA2 BRCA1
37 pre-malignant neoplasm 10.6 CDKN2A CDH1 BRCA2 BRCA1
38 cell type benign neoplasm 10.6 CDKN2A CDH1 APC AIP
39 ovarian cystadenocarcinoma 10.6 CDKN2A BRCA2 BRCA1
40 cancerophobia 10.6 BRCA2 BRCA1
41 in situ carcinoma 10.6 CDKN2A CDH1 BRCA2 BRCA1
42 bloom syndrome 10.6 FANCC BRCA2 BRCA1 BLM ATM
43 epstein-barr virus-associated gastric carcinoma 10.6 CDKN2A CDH1
44 telangiectasis 10.6 CHEK2 BMPR1A ATM
45 nosophobia 10.6 BRCA2 BRCA1
46 vulvar intraepithelial neoplasia 10.6 CDKN2A CDH1
47 uterine corpus cancer 10.6 CDKN2A BRCA2 BRCA1
48 ductal carcinoma in situ 10.6 CDKN2A CDH1 BRCA2 BRCA1
49 malignant ovarian surface epithelial-stromal neoplasm 10.6 CDKN2A CDH1 BRCA2 BRCA1 APC
50 ovary epithelial cancer 10.5 CDKN2A CDH1 BRCA2 BRCA1 APC

Graphical network of the top 20 diseases related to Inherited Cancer-Predisposing Syndrome:



Diseases related to Inherited Cancer-Predisposing Syndrome

Symptoms & Phenotypes for Inherited Cancer-Predisposing Syndrome

GenomeRNAi Phenotypes related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.82 BMPR1A CDH1 CDKN1B CDKN2A
2 Decreased viability GR00221-A-2 10.82 BMPR1A BRCA1 CHEK2
3 Decreased viability GR00221-A-3 10.82 ATM BMPR1A BRCA1 CDKN2A CHEK2
4 Decreased viability GR00221-A-4 10.82 ATM BMPR1A CDKN2A CHEK2
5 Decreased viability GR00240-S-1 10.82 AIP PALB2
6 Decreased viability GR00249-S 10.82 APC BARD1 BMPR1A BRCA2 FANCC
7 Decreased viability GR00301-A 10.82 BRCA1 CDH1
8 Decreased viability GR00342-S-2 10.82 CHEK2
9 Decreased viability GR00381-A-1 10.82 C11orf65
10 Decreased viability GR00386-A-1 10.82 BLM BRIP1
11 Decreased viability GR00402-S-2 10.82 CDH1 FANCC PALB2
12 Decreased homologous recombination repair frequency GR00151-A-1 10.33 BARD1 BRCA1
13 Decreased homologous recombination repair frequency GR00151-A-2 10.33 BRCA1
14 Decreased homologous recombination repair frequency GR00236-A-1 10.33 BARD1 BRCA1 BRCA2 PALB2
15 Decreased homologous recombination repair frequency GR00236-A-2 10.33 BARD1 BRCA1 BRCA2 PALB2
16 Decreased homologous recombination repair frequency GR00236-A-3 10.33 BARD1 BRCA1 BRCA2 PALB2
17 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.23 ATM BARD1 BLM CHEK2
18 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.23 ATM BARD1 BLM BRCA1 BRIP1 CDKN2A
19 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.23 ATM BARD1 BLM BRCA1 BRCA2 BRIP1
20 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.22 BARD1 BRCA1 BRCA2 CDKN2A PALB2
21 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.22 ATM BLM BRCA1 BRCA2 CDKN2A PALB2
22 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.22 ATM BARD1 BLM BRCA1 BRCA2 CHEK2
23 Increased ionizing radiation sensitivity GR00232-A-1 9.72 ATM BARD1 BRCA1 BRCA2 CDH1
24 Decreased viability with cisplatin GR00101-A-4 9.67 BARD1 BRCA1 BRCA2 BRIP1
25 Decreased viability after ionizing radiation GR00232-A-2 9.58 ATM BRCA1 BRCA2
26 Synthetic lethal with cisplatin GR00101-A-1 9.46 BARD1 BRCA1 BRCA2 BRIP1
27 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 APC AXIN2 BARD1 BRCA1 BRCA2

MGI Mouse Phenotypes related to Inherited Cancer-Predisposing Syndrome:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.52 AIP APC ATM AXIN2 BAP1 BARD1
2 endocrine/exocrine gland MP:0005379 10.44 AIP APC ATM AXIN2 BAP1 BARD1
3 cardiovascular system MP:0005385 10.42 AIP APC ATM AXIN2 BAP1 BLM
4 embryo MP:0005380 10.42 AIP APC ATM AXIN2 BAP1 BARD1
5 growth/size/body region MP:0005378 10.4 AIP APC ATM AXIN2 BAP1 BARD1
6 homeostasis/metabolism MP:0005376 10.34 AIP APC ATM BAP1 BARD1 BMPR1A
7 integument MP:0010771 10.33 AIP APC ATM AXIN2 BAP1 BLM
8 mortality/aging MP:0010768 10.31 AIP APC ATM AXIN2 BAP1 BARD1
9 hematopoietic system MP:0005397 10.29 APC ATM BAP1 BLM BMPR1A BRCA1
10 immune system MP:0005387 10.29 APC ATM BAP1 BLM BMPR1A BRCA1
11 neoplasm MP:0002006 10.27 AIP APC ATM BAP1 BARD1 BLM
12 digestive/alimentary MP:0005381 10.16 APC BAP1 BMPR1A BRCA1 BRCA2 CDH1
13 nervous system MP:0003631 10.13 APC ATM AXIN2 BARD1 BMPR1A BRCA1
14 limbs/digits/tail MP:0005371 10.03 APC AXIN2 BMPR1A BRCA1 BRCA2 BRIP1
15 normal MP:0002873 9.85 AOPEP APC AXIN2 BARD1 BLM BMPR1A
16 no phenotypic analysis MP:0003012 9.8 AXIN2 BAP1 BLM CDH1 CDKN1B CDKN2A
17 reproductive system MP:0005389 9.5 APC ATM AXIN2 BAP1 BARD1 BMPR1A
18 pigmentation MP:0001186 9.43 APC BMPR1A BRCA1 BRIP1 CDKN1B CDKN2A

Drugs & Therapeutics for Inherited Cancer-Predisposing Syndrome

Drugs for Inherited Cancer-Predisposing Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 InheRET: A Software-as-a-Service (SaaS) Solution to Identifying Patients at Increased Risk for Hereditary Disease Enrolling by invitation NCT04510896

Search NIH Clinical Center for Inherited Cancer-Predisposing Syndrome

Genetic Tests for Inherited Cancer-Predisposing Syndrome

Genetic tests related to Inherited Cancer-Predisposing Syndrome:

# Genetic test Affiliating Genes
1 Hereditary Cancer-Predisposing Syndrome 29 PALB2

Anatomical Context for Inherited Cancer-Predisposing Syndrome

MalaCards organs/tissues related to Inherited Cancer-Predisposing Syndrome:

40
Breast, Prostate, Colon, Pituitary, Myeloid, Ovary, Thyroid

Publications for Inherited Cancer-Predisposing Syndrome

Articles related to Inherited Cancer-Predisposing Syndrome:

(show top 50) (show all 4913)
# Title Authors PMID Year
1
Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach. 6 61
30884445 2019
2
Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer. 6
32809219 2020
3
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays. 6
32546644 2020
4
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
5
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2. 6
32398771 2020
6
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. 6
31558676 2020
7
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype. 6
30858171 2020
8
A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer. 6
32041497 2020
9
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
10
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. 6
31965077 2020
11
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer. 6
32125938 2020
12
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
13
Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls. 6
32300229 2020
14
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls. 6
31214711 2020
15
Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL. 6
31916644 2020
16
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
17
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. 6
31746132 2020
18
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants. 6
32113160 2020
19
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer. 6
32183364 2020
20
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. 6
31825140 2020
21
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer. 6
32075053 2020
22
MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas. 6
31783044 2020
23
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. 6
31492822 2020
24
Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon. 6
31871109 2020
25
Clinical Evaluation of BRCA1/2 Mutation in Mexican Ovarian Cancer Patients. 6
31869745 2020
26
Integration of Comprehensive Genomic Analysis and Functional Screening of Affected Molecular Pathways to Inform Cancer Therapy. 6
31685261 2020
27
Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients. 6
31786208 2020
28
Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients. 6
31768816 2020
29
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
30
Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition. 6
31076742 2020
31
A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Renal Cell Carcinoma in 32 Patients. 6
31524643 2020
32
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. 6
31444830 2020
33
Correction: Novel Insight into Mutational Landscape of Head and Neck Squamous Cell Carcinoma. 6
32401780 2020
34
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene. 6
31300551 2020
35
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
36
Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients. 6
31706072 2020
37
Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer. 6
30949688 2019
38
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes. 6
31343793 2019
39
Characterization of splice-altering mutations in inherited predisposition to cancer. 6
31843900 2019
40
Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update. 6
31942411 2019
41
The spectrum of mutations predisposing to familial breast cancer in Poland. 6
31173646 2019
42
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort. 6
31766501 2019
43
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells. 6
31237724 2019
44
Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer. 6
31815095 2019
45
A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant. 6
31687641 2019
46
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. 6
30927251 2019
47
BRCA mutation frequency and clinical features of ovarian cancer patients: A report from a Chinese study group. 6
31411802 2019
48
Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain). 6
31771539 2019
49
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries. 6
31209999 2019
50
The NCCN Criterion "Young Age at Onset" Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population. 6
31451522 2019

Variations for Inherited Cancer-Predisposing Syndrome

ClinVar genetic disease variations for Inherited Cancer-Predisposing Syndrome:

6 (show top 50) (show all 67815)
# 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 ATM NM_000051.3(ATM):c.3025G>T (p.Glu1009Ter) SNV Pathogenic 481093 rs1064794039 GRCh37: 11:108142081-108142081
GRCh38: 11:108271354-108271354
3 MSH2 NM_000251.2(MSH2):c.1208del (p.Asp403fs) Deletion Pathogenic 483695 rs1553356678 GRCh37: 2:47657012-47657012
GRCh38: 2:47429873-47429873
4 ATM NM_000051.3(ATM):c.4451del (p.Met1484fs) Deletion Pathogenic 481323 rs1555099760 GRCh37: 11:108163360-108163360
GRCh38: 11:108292633-108292633
5 MSH2 NM_000251.2(MSH2):c.2593dup (p.Ile865fs) Duplication Pathogenic 483692 rs1553370443 GRCh37: 2:47707968-47707969
GRCh38: 2:47480829-47480830
6 PMS2 NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter) SNV Pathogenic 480369 rs1060503110 GRCh37: 7:6018310-6018310
GRCh38: 7:5978679-5978679
7 TP53 NM_000546.5(TP53):c.121_124dup (p.Asp42delinsGlyTer) Duplication Pathogenic 480742 rs1555526784 GRCh37: 17:7579562-7579563
GRCh38: 17:7676244-7676245
8 MSH2 NM_000251.2(MSH2):c.443del (p.Val148fs) Deletion Pathogenic 480905 rs1553350721 GRCh37: 2:47637309-47637309
GRCh38: 2:47410170-47410170
9 TMEM127 NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) SNV Pathogenic 126968 rs121908814 GRCh37: 2:96931117-96931117
GRCh38: 2:96265379-96265379
10 PMS2 NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter) SNV Pathogenic 484309 rs876661256 GRCh37: 7:6027051-6027051
GRCh38: 7:5987420-5987420
11 PMS2 NM_000535.7(PMS2):c.1999_2000GA[1] (p.Glu667fs) Microsatellite Pathogenic 486927 rs1554297058 GRCh37: 7:6026394-6026395
GRCh38: 7:5986763-5986764
12 RET NM_020975.6(RET):c.1860C>G (p.Cys620Trp) SNV Pathogenic 13934 rs79890926 GRCh37: 10:43609104-43609104
GRCh38: 10:43113656-43113656
13 MLH1 NM_000249.3(MLH1):c.1456dup (p.Ser486fs) Duplication Pathogenic 237314 rs878853778 GRCh37: 3:37070319-37070320
GRCh38: 3:37028828-37028829
14 ATM NM_000051.3(ATM):c.855del (p.Gln286fs) Deletion Pathogenic 481152 rs1555067251 GRCh37: 11:108115707-108115707
GRCh38: 11:108244980-108244980
15 ATM , C11orf65 NM_001330368.2(C11orf65):c.640+20815dup Duplication Pathogenic 481261 rs864622669 GRCh37: 11:108235829-108235830
GRCh38: 11:108365102-108365103
16 PMS2 NM_000535.7(PMS2):c.240del (p.Phe80fs) Deletion Pathogenic 484324 rs1554304957 GRCh37: 7:6043613-6043613
GRCh38: 7:6003982-6003982
17 PMS2 NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) Insertion Pathogenic 484246 rs1554306288 GRCh37: 7:6045523-6045524
GRCh38: 7:6005892-6005893
18 PTEN NM_001304718.2(PTEN):c.-44del Deletion Pathogenic 486232 rs1554900593 GRCh37: 10:89711928-89711928
GRCh38: 10:87952171-87952171
19 SMAD4 NM_005359.6(SMAD4):c.903del (p.Trp302fs) Deletion Pathogenic 486981 rs1555685978 GRCh37: 18:48584825-48584825
GRCh38: 18:51058455-51058455
20 MRE11 NM_005590.4(MRE11):c.1773_1774del (p.Gly593fs) Deletion Pathogenic 483659 rs1555005270 GRCh37: 11:94180394-94180395
GRCh38: 11:94447228-94447229
21 MSH6 NM_001281492.1(MSH6):c.238-2679dup Duplication Pathogenic 486915 rs1553411409 GRCh37: 2:48023066-48023067
GRCh38: 2:47795927-47795928
22 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.216C>A (p.Tyr72Ter) SNV Pathogenic 480544 rs148690585 GRCh37: 17:33445567-33445567
GRCh38: 17:35118548-35118548
23 CDH1 NM_004360.5(CDH1):c.1679dup (p.Tyr561fs) Duplication Pathogenic 479514 rs1555516567 GRCh37: 16:68853295-68853296
GRCh38: 16:68819392-68819393
24 CDH1 NM_004360.5(CDH1):c.2029dup (p.Gln677fs) Duplication Pathogenic 483251 rs1555517100 GRCh37: 16:68857392-68857393
GRCh38: 16:68823489-68823490
25 ATM NM_000051.3(ATM):c.1978dup (p.Met660fs) Duplication Pathogenic 482732 rs1555073243 GRCh37: 11:108124619-108124620
GRCh38: 11:108253892-108253893
26 NF1 NM_000267.3(NF1):c.560del (p.Cys187fs) Deletion Pathogenic 480102 rs1555607107 GRCh37: 17:29496989-29496989
GRCh38: 17:31169971-31169971
27 NF1 NM_000267.3(NF1):c.3161_3165del (p.Asn1054fs) Deletion Pathogenic 485960 rs1555614642 GRCh37: 17:29557904-29557908
GRCh38: 17:31230886-31230890
28 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.649G>T (p.Gly217Ter) SNV Pathogenic 484764 rs775365939 GRCh37: 17:33430491-33430491
GRCh38: 17:35103472-35103472
29 MRE11 NM_005591.3(MRE11):c.170T>G (p.Leu57Ter) SNV Pathogenic 479719 rs951805101 GRCh37: 11:94219234-94219234
GRCh38: 11:94486068-94486068
30 MSH2 NM_000251.2(MSH2):c.1350del (p.Gln451fs) Deletion Pathogenic 485844 rs1553361261 GRCh37: 2:47672758-47672758
GRCh38: 2:47445619-47445619
31 PTCH1 NM_000264.5(PTCH1):c.1603-2A>C SNV Pathogenic 486220 rs1064793921 GRCh37: 9:98238443-98238443
GRCh38: 9:95476161-95476161
32 ATM , C11orf65 NM_001330368.2(C11orf65):c.641-38239_641-38238del Deletion Pathogenic 479069 rs1232259438 GRCh37: 11:108218036-108218037
GRCh38: 11:108347309-108347310
33 MSH2 NM_000251.2(MSH2):c.2246_2250del (p.Glu749fs) Deletion Pathogenic 479849 rs1553369665 GRCh37: 2:47705444-47705448
GRCh38: 2:47478305-47478309
34 MSH6 NM_001281492.1(MSH6):c.238-7523del Deletion Pathogenic 479975 rs1553410342 GRCh37: 2:48018224-48018224
GRCh38: 2:47791085-47791085
35 CDH1 NM_004360.5(CDH1):c.308G>A (p.Trp103Ter) SNV Pathogenic 483227 rs1555514464 GRCh37: 16:68835717-68835717
GRCh38: 16:68801814-68801814
36 PALB2 NM_024675.3(PALB2):c.1429del (p.Thr477fs) Deletion Pathogenic 484235 rs1555461287 GRCh37: 16:23646438-23646438
GRCh38: 16:23635117-23635117
37 NF1 NM_000267.3(NF1):c.3778_3782del (p.Met1260fs) Deletion Pathogenic 484084 rs1555615462 GRCh37: 17:29562698-29562702
GRCh38: 17:31235680-31235684
38 ATM NM_000051.3(ATM):c.289del (p.Ile97fs) Deletion Pathogenic 236694 rs878853497 GRCh37: 11:108100006-108100006
GRCh38: 11:108229279-108229279
39 PTEN NM_001304718.2(PTEN):c.-381del Deletion Pathogenic 484610 rs1554898123 GRCh37: 10:89692886-89692886
GRCh38: 10:87933129-87933129
40 MLH1 NM_000249.3(MLH1):c.2044_2045del (p.Met682fs) Deletion Pathogenic 237329 rs878853785 GRCh37: 3:37090448-37090449
GRCh38: 3:37048957-37048958
41 BMPR1A NM_004329.2(BMPR1A):c.68-1G>A SNV Pathogenic 482869 rs1131691174 GRCh37: 10:88649818-88649818
GRCh38: 10:86890061-86890061
42 NF1 NM_000267.3(NF1):c.3948dup (p.Val1317fs) Duplication Pathogenic 484026 rs1555615559 GRCh37: 17:29563012-29563013
GRCh38: 17:31235994-31235995
43 PALB2 NM_024675.3(PALB2):c.2002del (p.Met668fs) Deletion Pathogenic 482042 rs1555460526 GRCh37: 16:23641473-23641473
GRCh38: 16:23630152-23630152
44 ATM , C11orf65 NM_000051.3(ATM):c.6027C>G (p.Tyr2009Ter) SNV Pathogenic 482675 rs1555113567 GRCh37: 11:108186570-108186570
GRCh38: 11:108315843-108315843
45 BMPR1A NM_004329.2(BMPR1A):c.874dup (p.Ile292fs) Duplication Pathogenic 482884 rs1554891016 GRCh37: 10:88678933-88678934
GRCh38: 10:86919176-86919177
46 BARD1 NM_000465.4(BARD1):c.1371del (p.Asp458fs) Deletion Pathogenic 482780 rs1553619704 GRCh37: 2:215633980-215633980
GRCh38: 2:214769256-214769256
47 SMAD4 NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs) Deletion Pathogenic 486450 rs876660720 GRCh37: 18:48603039-48603066
GRCh38: 18:51076669-51076696
48 ATM , C11orf65 NM_000051.3(ATM):c.9064dup (p.Glu3022fs) Duplication Pathogenic 370165 rs1057516282 GRCh37: 11:108236127-108236128
GRCh38: 11:108365400-108365401
49 ATM , C11orf65 NM_000051.3(ATM):c.8584+2T>C SNV Pathogenic 181899 rs730881326 GRCh37: 11:108216637-108216637
GRCh38: 11:108345910-108345910
50 MLH1 NM_001167618.2(MLH1):c.-182del Deletion Pathogenic 483564 rs1553642777 GRCh37: 3:37050392-37050392
GRCh38: 3:37008901-37008901

Expression for Inherited Cancer-Predisposing Syndrome

Search GEO for disease gene expression data for Inherited Cancer-Predisposing Syndrome.

Pathways for Inherited Cancer-Predisposing Syndrome

Pathways related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 FANCC DICER1 CHEK2 CDKN2A CDKN1B BRIP1
2
Show member pathways
13.39 CHEK2 CDKN2A CDKN1B BRIP1 BRCA2 BRCA1
3
Show member pathways
13.18 PALB2 FANCC CHEK2 BRIP1 BRCA2 BRCA1
4
Show member pathways
12.93 FANCC CHEK2 CDKN2A CDKN1B BRIP1 BRCA1
5
Show member pathways
12.88 CHEK2 BRIP1 BRCA2 BRCA1 BARD1 ATM
6
Show member pathways
12.84 CDKN2A CDKN1B AXIN2 APC AIP
7
Show member pathways
12.83 CDKN2A CDKN1B CDH1 BRCA2 AXIN2 APC
8 12.81 CDKN2A CDKN1B CDH1 BRCA2 AXIN2 APC
9
Show member pathways
12.78 BRCA1 BARD1 BAP1 AXIN2 APC
10
Show member pathways
12.76 CDKN2A CDKN1B CDH1 BRCA2 BRCA1 AXIN2
11
Show member pathways
12.69 FANCC CHEK2 CDKN1B BRCA2 BRCA1 BARD1
12
Show member pathways
12.65 CDKN2A CDKN1B CDH1 BRCA2 BRCA1 ATM
13
Show member pathways
12.62 CHEK2 CDKN1B BRIP1 BRCA1 BLM BARD1
14 12.53 DICER1 CDKN2A CDKN1B BRCA1 ATM APC
15
Show member pathways
12.43 BRCA2 BRCA1 BLM ATM
16 12.39 CHEK2 CDKN2A CDKN1B BRIP1 BRCA2 BRCA1
17
Show member pathways
12.36 CHEK2 CDKN2A CDKN1B BRCA1 ATM
18 12.36 CHEK2 CDKN2A CDKN1B CDH1 ATM APC
19
Show member pathways
12.34 CHEK2 BRCA1 BARD1 BAP1 ATM
20
Show member pathways
12.24 PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
21
Show member pathways
12.17 CHEK2 CDKN2A CDKN1B BRCA1
22 12.11 CDH1 BMPR1A AXIN2 APC
23
Show member pathways
11.98 PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
24 11.96 CDKN2A CDKN1B ATM APC
25 11.81 PALB2 FANCC BRIP1 BRCA2 BRCA1 BLM
26
Show member pathways
11.78 CHEK2 BRCA1 ATM
27 11.73 CDH1 AXIN2 APC
28
Show member pathways
11.69 CHEK2 CDKN2A ATM
29 11.69 CDKN2A BRCA1 ATM
30 11.69 CDKN1B BRCA1 ATM
31 11.64 CDKN1B BLM ATM
32 11.63 CHEK2 BRCA1 ATM
33 11.47 CHEK2 BRCA1 BLM BARD1 ATM
34
Show member pathways
11.42 FANCC CHEK2 BRCA2 BRCA1 BLM BARD1
35 11.41 CHEK2 CDH1 BRCA2 BRCA1 BMPR1A BLM
36 11.3 CHEK2 CDKN1B BRCA1 BLM BARD1 ATM
37 11.26 FANCC BRCA1 BARD1 ATM
38
Show member pathways
10.88 DICER1 ATM

GO Terms for Inherited Cancer-Predisposing Syndrome

Cellular components related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.16 PALB2 FANCC DICER1 CHEK2 CDKN2A CDKN1B
2 nucleoplasm GO:0005654 9.8 PALB2 FANCC CHEK2 CDKN2A CDKN1B BRIP1
3 chromosome, telomeric region GO:0000781 9.67 CHEK2 BRCA2 BLM ATM
4 cytoplasm GO:0005737 9.58 FANCC DICER1 CHEK2 CDKN2A CDKN1B CDH1
5 beta-catenin destruction complex GO:0030877 9.43 AXIN2 APC
6 BRCA1-A complex GO:0070531 9.4 BRCA1 BARD1
7 lateral element GO:0000800 9.33 BRCA2 BRCA1 BLM
8 BRCA1-BARD1 complex GO:0031436 9.32 BRCA1 BARD1

Biological processes related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.08 CHEK2 CDKN2A CDKN1B BRCA2 BRCA1 ATM
2 positive regulation of transcription, DNA-templated GO:0045893 10.07 CHEK2 CDKN2A CDH1 BRCA2 BRCA1 BLM
3 negative regulation of cell proliferation GO:0008285 10.01 CDKN2A CDKN1B BRIP1 BAP1 AXIN2 APC
4 protein deubiquitination GO:0016579 9.95 BRCA1 BARD1 BAP1 APC
5 DNA recombination GO:0006310 9.85 PALB2 BRCA2 BRCA1 BLM
6 DNA replication GO:0006260 9.85 BRIP1 BRCA1 BLM BARD1 ATM
7 positive regulation of protein catabolic process GO:0045732 9.81 CDKN1B BARD1 APC
8 double-strand break repair via nonhomologous end joining GO:0006303 9.8 BRCA1 BARD1 ATM
9 cell cycle arrest GO:0007050 9.8 CDKN2A CDKN1B BARD1 ATM APC
10 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.79 CHEK2 CDKN1B ATM
11 positive regulation of cell death GO:0010942 9.78 CDKN1B AXIN2 APC
12 double-strand break repair GO:0006302 9.78 CHEK2 BRIP1 BRCA2 BRCA1
13 nucleotide-excision repair GO:0006289 9.75 FANCC BRIP1 BRCA2
14 DNA damage checkpoint GO:0000077 9.74 CHEK2 BRIP1 ATM
15 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.73 CDKN2A CDKN1B APC
16 somitogenesis GO:0001756 9.73 PALB2 BMPR1A AXIN2 ATM
17 regulation of signal transduction by p53 class mediator GO:1901796 9.73 CHEK2 BRIP1 BRCA1 BLM BARD1 ATM
18 double-strand break repair via homologous recombination GO:0000724 9.72 PALB2 BRCA2 BRCA1 BLM ATM
19 replicative senescence GO:0090399 9.69 CHEK2 CDKN2A ATM
20 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.67 CHEK2 BRCA2 BRCA1
21 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.67 CHEK2 BRCA2 BRCA1 ATM
22 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.65 CDKN2A ATM
23 inner cell mass cell proliferation GO:0001833 9.65 PALB2 BRCA2
24 cellular response to lithium ion GO:0071285 9.64 CDKN1B CDH1
25 protein K6-linked ubiquitination GO:0085020 9.63 BRCA1 BARD1
26 replication fork protection GO:0048478 9.63 BRCA2 BLM
27 DNA damage induced protein phosphorylation GO:0006975 9.62 CHEK2 ATM
28 DNA repair GO:0006281 9.61 PALB2 FANCC CHEK2 BRIP1 BRCA2 BRCA1