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: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE In conclusion, families with a positive history of PC and patients with BRCA 1 or 2 mutations should be monitored. 31118690 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Comparing 3030 case patients with pancreatic cancer (43.2% female; 95.6% non-Hispanic white; mean age at diagnosis, 65.3 [SD, 10.7] years) with reference controls, significant associations were observed between pancreatic cancer and mutations in CDKN2A (0.3% of cases and 0.02% of controls; odds ratio [OR], 12.33; 95% CI, 5.43-25.61); TP53 (0.2% of cases and 0.02% of controls; OR, 6.70; 95% CI, 2.52-14.95); MLH1 (0.13% of cases and 0.02% of controls; OR, 6.66; 95% CI, 1.94-17.53); BRCA2 (1.9% of cases and 0.3% of controls; OR, 6.20; 95% CI, 4.62-8.17); ATM (2.3% of cases and 0.37% of controls; OR, 5.71; 95% CI, 4.38-7.33); and BRCA1 (0.6% of cases and 0.2% of controls; OR, 2.58; 95% CI, 1.54-4.05). 29922827 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 Biomarker disease BEFREE Germ-line mutations in PALB2 lead to a familial predisposition to breast and pancreatic cancer or to Fanconi Anemia subtype N. PALB2 performs its tumor suppressor role, at least in part, by supporting homologous recombination-type double strand break repair (HR-DSBR) through physical interactions with BRCA1, BRCA2, and RAD51. 23657012 2013
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 Biomarker disease BEFREE PALB2 mutation analysis was performed in 94 non-BRCA1/2 breast cancer patients with a personal or family history of pancreatic cancer. 21365267 2011
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Germline mutations in BRCA1 and BRCA2 are associated with an increased risk of pancreatic cancer. 23456555 2013
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE BRCA1/2 genes are the most commonly mutated pancreatic cancer susceptibility genes that should be considered in all pancreatic cancer cases with young age at onset or a family history of cancer. 29940740 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 Biomarker disease BEFREE Additionally, mean ages of diagnosis of pancreatic cancer in BRCA1/2 families differ significantly from the SEER mean (P = 0.0014 for BRCA1 and P = 0.011 for BRCA2 by unpaired t-test). 18855126 2009
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Pancreatic cancer is seen in some breast cancer families with BRCA1 and BRCA2 mutations. 12670518 2003
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Role of BRCA1 and BRCA2 mutations in pancreatic cancer. 16973716 2007
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE In risk assessment for HBOS, identifying a family history of PC should strongly raise the suspicion of an unrecognized BRCA1/2 mutation. 18581219 2008
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Germline mutations of BRCA1 are also associated with ovarian cancer and mutations of BRCA2 are associated with an increased risk of male breast cancer, ovarian cancer, prostate cancer and pancreatic cancer. 9134530 1997
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE The purpose of the study was to assess the relationship between BRCA1 gene mutation and pancreatic cancer in Polish population. 19140568 2008
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Retrospective studies suggest a survival benefit when platinum-based chemotherapy is administered to patients with pancreatic cancer harbouring a germline mutation in BRCA1, BRCA2 or PALB2 (mut-positive PDAC). 31787751 2020
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE We found rs1799966 on BRCA1 was associated with poor prognosis of pancreatic cancer patients with hazard ratio being 1.23 (95% CI: 1.09-1.40, P = 0.0010). 28415599 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Our findings suggest that mutations in the BRCA1 gene are not highly, or even moderately, prevalent in families with a clustering of pancreatic cancer, including pancreatic cancer families who report a family history of breast and/or ovarian cancer. 19029836 2009
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 Biomarker disease BEFREE Proportion of ovarian cancer was increased in the 5' portion of BRCA1, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2. 14531499 2003
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Genotype-phenotype correlation in BRCA1/2 mutation-associated pancreatic cancer. 31787750 2020
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation. 15264268 2004
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE BRCA1 mutations may confer increased risks of other abdominal cancers in women and increased risks of pancreatic cancer in men and women. 12237281 2002
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 Biomarker disease BEFREE BRCA1 was found to have the same association with PC as BRCA2, which appears unique to our population. 26727920 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Pancreatic cancer with a BRCA1/2 mutation is a small subgroup with a promising therapeutic strategy. 26402249 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. 24737347 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 Biomarker disease BEFREE Given the dismal prognosis of PC, with the only current hope for survival being through surgical extirpation of the pancreas prior to metastasis, it is prudent that we realize the potential predisposition toward PC via BRCA1, in the hope of early diagnosis and prevention. 15796958 2005
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 Biomarker disease BEFREE Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer. 29441441 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.400 GeneticVariation disease BEFREE Yet, it is not fully elucidated whether the risk for pancreatic cancer attributed to BRCA1 is similar to the high risk conferred by BRCA2. 18439109 2008