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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE In addition, no allelic losses at the BRCA1 locus were demonstrated in 17 patients with a family history of CaP, using seven microsatellite markers. 10945492 2000
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Specific genes involved in the DDR such as BRCA1/2 and P53 are mutated during prostate cancer progression, while various oncogenic signaling such as Akt and c-Myc are activated, enhancing the replication stress and increasing the genomic instability of cancer cells. 25132269 2015
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Prostate cancer risk was increased (OR, 1.9; 95% CI 0.9-4.1) for BRCA2 mutation carriers but not for BRCA1 mutation carriers. 19188187 2009
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype. 18182994 2008
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Prior data suggests that men carrying mutations in the BRCA1& 2 genes may be at increased risk of developing prostate cancer. 25047061 2014
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE We review prostate cancer genetic risk factors and the ongoing IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) screening study. 28697982 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium of 62 centres in 20 countries evaluating the use of targeted PCa screening in men with BRCA1/2 mutations. 24484606 2014
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Jewish BRCA1/2 mutation carriers are at an increased risk for breast and pancreatic, but not prostate cancer. 25788227 2015
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE To establish whether or not inherited variation in BRCA1 influences prostate cancer risk we genotyped 1793 men with prostate cancer in Poland and 4570 controls for three founder mutations (C61G, 4153delA and 5382insC). 18090912 2008
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Mutation of BRCA1 (three mutations combined) was not associated with the risk of prostate cancer (OR=0.9; P=0.8). 23149842 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Germ-line mutations of the breast cancer susceptibility gene 1 (BRCA1) confer a high risk for breast and ovarian cancer in women and prostate cancer in men. 11163768 2001
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Overall 1 of 7 (14 %) and 1 of 20 (5 %) men with BRCA1/2 mutations were positive for a diagnosis of prostate cancer. 27456091 2016
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Thus, we have identified a common, nonsynonymous substitution in the BRCA1 gene that is associated with and linked to prostate cancer. 17585057 2007
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Four microsatellite polymorphic markers (D8S133, D8S136, and D8S137, for a putative tumor suppressor gene on chromosome 8p, and D17S855, for the BRCA1 gene on chromosome 17q) were used to examine the pattern of allelic loss in prostate cancer from 19 patients who had two or more distantly separate tumors (i.e., located on contralateral sides or separated by at least half the anterior-posterior diameter of the prostate). 9462681 1998
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE BRCA2 but not BRCA1 mutations were associated with higher PCa mortality. 30900310 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE PCa with germline BRCA1/2 mutations were more frequently associated with Gleason ≥ 8 (P = .00003), T3/T4 stage (P = .003), nodal involvement (P = .00005), and metastases at diagnosis (P = .005) than PCa in noncarriers. 23569316 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE BRCA1 mutation detection was performed on a family having four confirmed cases of ovarian cancer, two cases of breast cancer, and one case each of colon, stomach, and prostate cancer. 10600309 1999
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Several studies have provided evidence that germline mutations in BRCA1 and BRCA2 confer an increased risk of prostate cancer. 10344217 1999
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study. 20840664 2011