Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GermlineCausalMutation ORPHANET Hereditary ovarian cancer. 16112002

2005
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GermlineCausalMutation ORPHANET Hereditary ovarian cancer. 16112002

2005
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.500 GeneticVariation ORPHANET To identify the disease-causing mutations in a cohort of 120 Brazilian women fulfilling criteria for HBOC, we carried out a comprehensive screening of BRCA1/2, TP53 R337H, CHEK2 1100delC, followed by an analysis of copy number variations in 14 additional breast cancer susceptibility genes (PTEN, ATM, NBN, RAD50, RAD51, BRIP1, PALB2, MLH1, MSH2, MSH6, TP53, CDKN2A, CDH1 and CTNNB1). 24884479

2014
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.500 GeneticVariation ORPHANET Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN). 23779253

2013
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.500 GermlineCausalMutation ORPHANET Consequently, we have performed a large RAD51C mutation screen of hereditary breast and ovarian cancer families, and the first study of unselected patients diagnosed with ovarian cancer. 21990120

2012
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.500 GermlineCausalMutation ORPHANET Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. 20400964

2010
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.460 GeneticVariation ORPHANET Hereditary breast and ovarian cancer susceptibility genes (review). 23779253

2013
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.460 GeneticVariation ORPHANET Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations. 21562711

2011
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.420 GermlineCausalMutation ORPHANET Germline mutations in RAD51D confer susceptibility to ovarian cancer. 21822267

2011
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.410 GeneticVariation ORPHANET Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622

2006
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 GeneticVariation ORPHANET Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 GeneticVariation ORPHANET Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 GeneticVariation ORPHANET Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. 15342711

2004
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 GeneticVariation ORPHANET Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. 14684699

2003
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 GeneticVariation ORPHANET Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. 14684699

2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.330 GeneticVariation ORPHANET Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN). 23779253

2013
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.300 GeneticVariation ORPHANET RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women. 24114315

2014
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.300 GeneticVariation ORPHANET Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.300 GeneticVariation ORPHANET Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. 14684699

2003
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.300 GeneticVariation ORPHANET Identification of Rad51 alteration in patients with bilateral breast cancer. 10807537

2000