BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE We evaluated whether PSVs in BRCA1/2 were associated with risk of overall PCa or high grade (Gleason 8+) PCa using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with PCa, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without PCa. 31723001 2020
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 Biomarker disease BEFREE Sixteen BRCA1 and 26 BRCA2 carriers were diagnosed with PCa during follow-up. 31495749 2020
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 Biomarker disease BEFREE The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer. 30681994 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 Biomarker disease BEFREE The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations. 31537406 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 Biomarker disease BEFREE In order to substantiate the data for BRCA1 gene loss in PCa and reveal its phenotypical background, BRCA1 gene status was assessed in a large cohort of PCa patients and compared to different molecular factors. 30265376 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 Biomarker disease BEFREE Present study demonstrated that BRCA1 and EZH2 are coregulated in patients' tumors and PCa cell lines, and cooperate in regulation of CSC phenotype and properties. 30968962 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE To better understand the correlation between BRCA1/2 mutations and the immune phenotype in prostate cancer, we characterized the immune infiltrate of eight BRCA2-mutated tumors in comparison with eight BRCA1/2 wild-type patients by T-cell receptor sequencing and immunohistochemistry for CD45, CD4, CD8, FOXP3, and CD163. 31549213 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE Of 3607 men (mean [SD] age at testing, 67 [9.51] years; mean age at diagnosis, 60 [9.05] years) with a personal diagnosis of prostate cancer who were referred for genetic testing, 620 (17.2%) had positive germline variants, of which only 30.7% were variants in BRCA1/2. 30730552 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE For advanced prostate cancer carrying Breast cancer1/2 <i>(BRCA1/2)</i> or ataxia telengiectasia mutated (<i>ATM</i>) mutations, preclinical studies and clinical trials support the use of PARP-inhibitors, which received breakthrough therapy designation by the FDA. 31242618 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. 29802810 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 Biomarker disease BEFREE BRCA1 and BRCA2 genes were sequenced (Ion AmpliSeq targeted sequencing) in archived blood DNA specimens in 1240 PCa patients, including 30% AA patients, in three different cohorts: localized early stage (T2) PCa (N = 935); advanced PCa (50% T3-4) (N = 189); and metastatic PCa (N = 116). 30542053 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE BRCA2 but not BRCA1 mutations were associated with higher PCa mortality. 30900310 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE Men on active surveillance with inherited mutations in BRCA1/2 and ATM are more likely to harbor aggressive prostate cancer. 30309687 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE In the present study it was demonstrated that PARP1-siRNA could reduce prostate cancer (PCa) cell progression regardless of the BRCA1/2 mutation. 29393407 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE The FDA authorized 23andMe to market the first direct-to-consumer test to check for three BRCA1/2 mutations associated with a higher risk of developing breast, ovarian, and prostate cancers. 29540360 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due to BRCA1/2 mutations. 29301143 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE We confirmed that BRCA1/2 mutations confer an up to 4.5-fold and 8.3-fold increased risk of PC, respectively. 29242595 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE Despite having high grade histology and advanced stage at diagnosis, male BRCA1/2 mutation carriers with breast and prostate cancer demonstrated a favorable 5-year survival. 29433453 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE Genetic factors contribute to more than 40% of prostate cancer risk, and mutations in BRCA1 and BRCA2 are well-established risk factors. 29580149 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE "Masculinity theory" was used to report the impact of having both a BRCA1/2 mutation and PCa. 28812325 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE For example, prostate cancer risk by age 80 years at the 5th and 95th percentiles of the PRS varies from 7% to 26% for carriers of BRCA1 mutations and from 19% to 61% for carriers of BRCA2 mutations, respectively. 28448241 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE Germline breast cancer 1 gene (BRCA1) and breast cancer 2 gene (BRCA2) mutations are implicated in the highest risk of prostate cancer (PC) predisposition and aggressiveness. 28280302 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE Prostate cancer patients with inherited mutations in BRCA1/2 and ATM are more likely to die of prostate cancer and do so at an earlier age. 27989354 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 GeneticVariation disease BEFREE PARP inhibitors are gradually being established for therapeutic purposes, with olaparib achieving breakthrough status for prostate cancer patients with BRCA1 and 2 and ATM mutations. 28323658 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.500 Biomarker disease BEFREE The use of PARP1 inhibitors is gaining momentum in the treatment of a variety of tumours with BRCA1 involvement including breast, ovarian, pancreatic and prostate cancer. 29187880 2017