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 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 Biomarker disease BEFREE BRCA1 and BRCA2 are the genes related with breast and ovarian cancer. 30358186 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Possible inconsistency in the ratio of BRCA1-to-BRCA2 mutations and the most common mutation between KoOC and KoBC may probably suggest presence of mutation sequence-associated penetrance tendency in hereditary Korean breast and ovarian cancer. 30309222 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Finally, neurofibromin 1, synaptonemal complex protein 2 and tumor protein 53 were predicted to be involved in the interaction network of BRCA1 and BRCA2 in breast cancer and ovarian cancer. 30221688 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 AlteredExpression disease BEFREE Independency of the prognostic value of BRCA2-expression for PFS (P = 0.045) and OS (P = 0.015) was restricted to high-grade serous OCs. 30111871 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE The role of both germ line and somatic mutations in BRCA1 and BRCA2 in the development of ovarian cancer is well established, with mutation in either gene resulting in deficiencies in homologous recombination. 30092674 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Among the 1331 patients with OC, 227 (17.1%) carried deleterious variants in BRCA1 and 70 (5.3%) carried deleterious variants in BRCA2. 30078507 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Pathogenic variants in BRCA1 or BRCA2 are identified in ∼20% of families with multiple individuals affected by early-onset breast and/or ovarian cancer. 30075112 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Poly(adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitors have shown an impressive safety profile and anti-tumor efficacy in patients with breast cancer 1 and 2 (BRCA1 and BRCA2) gene-mutated ovarian cancer who were previously treated with the standard of care chemotherapy. 30050740 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Deleterious mutations in BRCA1 or BRCA2 genes increase a woman's lifetime risk of breast and ovarian cancer. 29863445 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Participants had sought genetic testing for a BRCA1 or BRCA2 mutation because of a personal or family history of breast and/or ovarian cancer. 29710224 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE The term-pregnancies number was a significant risk-reducing factor for breast cancers in BRCA1 mutation carriers (HR per pregnancy, 0.640; 95% CI, 0.508-0.806; P < .001), for breast cancers in BRCA2 mutation carriers (HR per pregnancy, 0.534; 95% CI, 0.419-0.681; P < .001), and for ovarian cancers for BRCA1 mutation carriers (HR per pregnancy, 0.625; 95% CI, 0.474-0.824; P = .001). 29673794 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Loss of heterozygosity, somatic point mutations and copy number alterations along with promoter methylation were studied in 56 breast and 15 ovarian cancers from BRCA1 and BRCA2 germline mutation carriers. 29580810 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study. 29565421 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. 29550970 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Probability of breast/ovarian cancer development is higher in individuals carrying a causative germline DNA variant in BRCA1 or BRCA2 gene responsible for hereditary breast/ovarian cancer (HBOC). 29534594 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE There were 5712 women tested for a BRCA1 and BRCA2 mutation at the HCP between 2001 and 2014, 887 of which had previously received a diagnosis of ovarian cancer. 29506471 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE After adjusting for mutation position, association between FH and OC risks was slightly smaller in magnitude (HR: 0.85, 95% CI: 0.55-1.30; HR: 0.64, 95% CI: 0.34-1.21 for BC-only FH in BRCA1 and BRCA2, respectively; HR: 1.46, 95% CI: 0.80-2.68; HR: 1.49, 95% CI: 0.44-4.02 for OC-only FH in BRCA1 and BRCA2, respectively), indicating that mutation position explains only part of the association. 29483665 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Long non-coding RNA RP11-552M11.4 promotes cells proliferation, migration and invasion by targeting BRCA2 in ovarian cancer. 29478268 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience. 29460478 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Women with mutations in the BRCA1 and BRCA2 genes have an increased risk of breast and ovarian cancers. 29456806 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Monoallelic inactivation of some FA genes, such as FA complementation group D1 (FANCD1; also known as the breast and ovarian cancer susceptibility gene BRCA2), leads to adult-onset cancer predisposition but does not cause FA, and somatic mutations in FA genes occur in cancers in the general population. 29376519 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing can prevent 1.86%/1.91% of BC and 3.2%/4.88% of OC in UK/US women: 657/655 OC cases and 2420/2386 BC cases prevented per million. 29361001 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE This prospective study suggests that tobacco smoking is associated with a modest increase in the risks of breast and ovarian cancer among women with BRCA1 or BRCA2 mutation. 29330845 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE It is now well established that BRCA1 and BRCA2-mutated women are at increased risk of breast and ovarian cancers. 29327596 2018