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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Through the biopsy histopathological examination, imaging examination, and genetic testing, the patient was diagnosed as metastatic PC with BRCA2 mutation. 31577767 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Olaparib is a PARP inhibitor (PARPi).For patients bearing BRCA1 or BRCA2 mutations, olaparib is approved to treat ovarian cancer and in clinical trials to treat breast and pancreatic cancers. 30660828 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE We confirmed variants in BRCA2 as the most common high-penetrant genetic factor associated with pancreatic cancer and we also identified candidate pancreatic cancer genes. 29074453 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Epidermal Growth Factor Receptor-Targeting Peptide Nanoparticles Simultaneously Deliver Gemcitabine and Olaparib To Treat Pancreatic Cancer with Breast Cancer 2 ( BRCA2) Mutation. 30407790 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer. 29441441 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 AlteredExpression disease BEFREE In this study, we determined protein expression of BRCA1 and BRCA2 in 4 digestive system cancers (gastric cancer, colorectal cancer, hepatocellular carcinoma, and pancreatic cancer) by immunohistochemistry on tissue microarrays. 29126833 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 Biomarker disease BEFREE Since its identification as a BRCA2 interacting partner, PALB2 has emerged as a pivotal tumor suppressor protein associated to hereditary cancer susceptibility to breast and pancreatic cancers. 28858227 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Results Thirty-three (3.9%; 95% CI, 3.0% to 5.8%) of 854 patients with pancreatic cancer had a deleterious germline mutation, 31 (3.5%) of which affected known familial pancreatic cancer susceptibility genes: BRCA2 (12 patients), ATM (10 patients), BRCA1 (3 patients), PALB2 (2 patients), MLH1 (2 patients), CDKN2A (1 patient), and TP53 (1 patient). 28767289 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 Biomarker disease BEFREE KRAS, TP53, CDKN2A, SMAD4, BRCA1, and BRCA2 Mutations in Pancreatic Cancer. 28452926 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected brother showed the BRCA2 mutation only and another brother is supposed to have developed pancreatic cancer due to multiple non-genetic risk factors. 27838800 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Here we present a case of a 63-year-old female patient with a germ line pathogenic BRCA2 mutation (6714 deletion) who developed pancreatic cancer and had an exceptional response to platinum and PARP inhibitor therapy. 28291774 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE BRCA2 mutations in MSH2/MLH1-mutant CRCs included 75 unique mutations not known to occur in breast or pancreatic cancer per COSMIC v73. 28591715 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE The BRCA2 gene is one of the most common genes linked to pancreatic-only cancer families; however, other hereditary cancer syndromes have also been associated with an increased risk for PC. 26727920 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Consequently, inherited mutations in BRCA2 are associated with an increased risk of breast, ovarian and pancreatic cancers. 27530658 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Therefore, we asked whether radiation sensitivity of pancreatic cancers developing in individuals with germline BRCA2 mutations can be enhanced by agents that inhibit poly (ADP-ribose) polymerase (PARP). 28033382 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 Biomarker disease BEFREE Nucleotide sequencing of BRCA2 in lymphocyte and tumoral DNA of a 50-year-old male who presented with an androgen-secreting ACC and a strong family history of breast, ovarian, and pancreatic cancers. 27603373 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 Biomarker disease BEFREE The Role of BRCA2 Mutation Status as Diagnostic, Predictive, and Prognosis Biomarker for Pancreatic Cancer. 28078281 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 Biomarker disease BEFREE Increased in vitro and in vivo sensitivity of BRCA2-associated pancreatic cancer to the poly(ADP-ribose) polymerase-1/2 inhibitor BMN 673. 25864590 2015
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE We found that AZD1775 sensitized to gemcitabine-radiation in BRCA2 wild-type but not BRCA2 mutant pancreatic cancer cells. 26585231 2015
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Targeting defects in the DNA repair machinery of neoplastic cells, for example, those due to inactivating BRCA1 and/or BRCA2 mutations, has been used for developing new therapies in certain types of breast, ovarian and pancreatic cancers. 26511885 2015
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 Biomarker disease CTD_human Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. 26098869 2015
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 Biomarker disease BEFREE Thus, the models reveal novel aspects of cancer evolution in carriers of germline BRCA2 mutations, provide new insights into the tumour suppressive role of BRCA2, and establish valuable new preclinical settings for testing approaches to pancreatic cancer therapy; together, these features emphasize the value of GEMMs in cancer research. 24268522 2014
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.800 GeneticVariation disease BEFREE Germline mutations in BRCA1 and BRCA2 are associated with an increased risk of pancreatic cancer. 23456555 2013