BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 CausalMutation disease CLINVAR
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 CausalMutation disease CGI
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease UNIPROT
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease HPO
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GenomicAlterations disease CGI
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE 691 female BRCA1/2 mutation carriers without breast or ovarian cancer at time of family ascertainment were identified; 346 BRCA1 and 345 BRCA2. 24249359 2013
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Ovarian cancer penetrance for BRCA1 and BRCA2 combined was 22% (6-65%) by age 80. 11044354 2000
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Ovarian cancer survival in Ashkenazi Jewish patients with BRCA1 and BRCA2 mutations. 11373105 2001
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Ovarian cancer and genetic susceptibility in relation to the BRCA1 and BRCA2 genes. Occurrence, clinical importance and intervention. 16521688 2006
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are associated with mutations in BRCA1 and BRCA2 genes. 25136623 2014
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Ovarian carcinomas (OC) arising in BRCA1 and BRCA2 mutation carriers demonstrate pronounced sensitivity to platinum-based therapy due to deficiency of double-strand break DNA repair. 25186150 2014
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE BRCA2 mutations were less common than BRCA1 mutations in families with any history of ovarian carcinoma. 10717622 2000
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE BRCA2 keeps Rad51 in line. High-fidelity homologous recombination prevents breast and ovarian cancer? 12504001 2002
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE BRCA2 is responsible for familial breast and ovarian cancer, and its gene product is linked to DNA repair and transcriptional regulation. 17286961 2007
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. 17413983 2007
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE BRCA2 germ-line mutations predispose to breast and ovarian cancer. 18597679 2008
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. 26586665 2016
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Breast cancer 2, early onset (BRCA2) has been reported to be associated with familial breast and ovarian cancer. 27535760 2016
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE BRCA2, a cancer susceptibility gene, has been widely studied in breast and ovarian carcinomas as mutation carriers for this gene are at a high risk for cancer development. 30407325 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE BRCA2 carries a risk of breast cancer similar to that of BRCA1, but is associated with a lower risk of ovarian cancer and a higher risk of male breast cancer. 8791478 1996
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE A BRCA2 mutation was found in eight of 34 women with ovarian cancer and a family history of stomach cancer versus three of 75 women with ovarian cancer and a family history of ovarian cancer, but not of stomach cancer (odds ratio=7.4; 95% CI 1.8-30; P=0.004). 14647210 2003
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer. 28407998 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE A further confounder pertains to the lifetime risk for ovarian cancer, which differs strikingly between BRCA1 mutation carriers, who show a 40-60% lifetime risk, and their BRCA2 counterparts, who carry a lifetime risk of approximately 12-15% for ovarian cancer. 18086271 2008
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. 9537232 1998