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: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE We conclude that impact of miR-493-5p on multiple pathways pertinent to genome stability cumulatively causes PARPi/platinum resistance in BRCA2 mutant carcinomas. 29617652 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE In patients with BRCA mutant or BRCA wild-type and LOH high platinum-sensitive ovarian carcinomas treated with rucaparib, progression-free survival was longer than in patients with BRCA wild-type LOH low carcinomas. 27908594 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE HGSC associated with BRCA2 but not BRCA1 mutations had significantly lower PNN compared to HGSC in non-carriers (54% vs. 70%, P=0.018). 27575909 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Overall, 79% of tumors were classified as high-grade serous carcinoma (n=138), and the most common mutations in high-grade serous carcinomas were TP53 (94%), BRCA1 (25%), BRCA2 (11%), and ATM (7%). 27150160 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE BRCA2 mutations were observed with a frequency of 14.3% in ampulla of Vater carcinomas. 27532258 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE In addition, one of the 9 active compounds, adenosine 5'-monophosphate (A5MP), and also its mimic 5-aminoimidazole-4-carboxamide ribonucleotide (AICAR) 5' phosphate (ZMP) inhibited RAD52 activity in vivo and exerted synthetic lethality against BRCA1 and BRCA2-mutated carcinomas. 26784987 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE We studied 102 high-grade serous carcinomas with known BRCA1 and BRCA2 genotype from the archives of the Department of Pathology at Memorial Sloan-Kettering Cancer Center. 24577588 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE If true, an increased incidence of uterine papillary serous carcinomas would be expected in BRCA1 and BRCA2 mutation carriers, who are at high-risk of developing pelvic high-grade serous carcinoma. 23080033 2013
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE We identified 43 high-grade ovarian serous carcinomas with known events in BRCA1 and BRCA2 included in The Cancer Genome Atlas Project. 23232854 2013
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Seven BRCA1 and one BRCA2 mutation carriers were diagnosed with primary peritoneal serous carcinoma; no peritoneal carcinomas were registered in MMR gene mutation carriers. 23666231 2013
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Using mutagenesis and a peptide aptamer approach, we pinpointed phenylalanine 79 in RAD52 DNA binding domain I (RAD52-phenylalanine 79 [F79]) as a valid target to induce synthetic lethality in BRCA1- and/or BRCA2-deficient leukemias and carcinomas without affecting normal cells and tissues. 23836560 2013
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE 53BP1 message levels were significantly associated with BRCA1 message levels in wildtype and BRCA1-mutated but not BRCA2-mutated carcinomas. 23246380 2013
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Conversely, the best clinical criterion for starting with BRCA2 analysis is the presence of breast cancer diagnosed in older age (above 50), or the presence of breast cancer in conjunction with carcinomas at different sites e.g., prostate, colorectum, ovary and uterus. 21203900 2011
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE In paired specimens, BRCA1 protein expression increased in 13/21 (62%) and BRCA2 protein expression increased in 15/21 (71%) of recurrent carcinomas with low or intermediate protein in the paired primary. 19602291 2009
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Although ovarian carcinomas with mutated BRCA1 or BRCA2 are sensitive to platinum compounds, such carcinomas eventually develop platinum resistance. 18413725 2008
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Since myoepithelial markers are frequently expressed in breast carcinomas with a basal-like phenotype, which are frequently occurring tumors in women with BRCA1 germline mutations, we evaluated whether CAV1 was associated with a basal-like phenotype in 509 sporadic and 47 hereditary BRCA1-/BRCA2-associated carcinomas. 16541313 2006
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Approximately 6% of BRCA1 carriers and 2% of BRCA2 carriers who undergo prophylactic salpingo-oophorectomy will be found to have occult carcinomas if the ovaries and tubes are rigorously examined. 16137750 2006
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Several other carcinomas seem to be associated with BRCA2 mutations: pancreas, prostate, larynx, gallbladder, bile duct cancer, and malignant melanoma. 16982466 2006
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Incidental carcinomas in prophylactic specimens in BRCA1 and BRCA2 germ-line mutation carriers, with emphasis on fallopian tube lesions: report of 6 cases and review of the literature. 17001151 2006
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Current data indicate that each of these histologic subtypes is associated with distinct morphologic and molecular genetic alterations: high-grade serous and possibly endometrioid carcinomas most probably arise from surface epithelial inclusion glands with TP53 mutations and dysfunction of BRCA1 and/or BRCA2; low-grade serous carcinomas probably arise in a stepwise fashion in an adenoma-borderline tumor-carcinoma sequence from typical to micropapillary borderline tumors to low-grade invasive serous carcinoma via activation of the RAS-RAF signaling pathway secondary to mutations in KRAS and BRAF; mucinous carcinomas arise via an adenoma-borderline tumor-carcinoma sequence with mutations in KRAS; low-grade endometrioid carcinomas arise from endometriosis via mutations in CTNNB1 (the gene encoding beta-catenin) and PTEN. 15761464 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Somatic mutations in the BRCA genes are rarely found in hereditary tumors; by contrast, BRCA1 and BRCA2 loss of heterozygosity (LOH) is found in almost all BRCA1 and BRCA2 carcinomas, respectively. 15933754 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE In contrast, most BRCA2-associated carcinomas grouped in a branch composed by ER/PR/BCL2-positive tumors with a higher expression of the cell cycle proteins cyclin D1, cyclin D3, p27, p16, p21, CDK4, CDK2 and CDK1. 15770521 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE These data suggest that the imaging findings of BRCA1 and BRCA2-associated carcinomas differ from each other and from age-matched cases of sporadic breast carcinoma. 15451348 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Over 90% of peritoneal cancer in patients from HBOC syndrome kindreds and associated with BRCA1 and BRCA2 mutations are serous carcinomas, which is equivalent with the proportion of ovarian cancers that are serous carcinomas in similar patients. 15516851 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE No microdeletions, insertions, or point mutations were detected in either RB or BRCA2 in any of the carcinomas. 12864795 2003