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: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas. 31699802 2020
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Germline BRCA1/2 mutations were frequently detected in HGSC and were rarely observed in CCC, EC, and MC patients. 31780705 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE BRCA1 mutant carcinomas are sensitive to PARP inhibitor (PARPi) therapy; however, resistance arises. 31827092 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group BEFREE Relative to wild type, the HR for death for <i>BRCA1/2</i> mutated carcinomas was 0.62 (95% CI, 0.52 to 0.73), and for non-<i>BRCA1/2</i> HRR, the HR was 0.65 (95% CI, 0.51 to 0.85). 31216226 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group BEFREE Therefore, ovarian cancer patients with histological subtypes other than high-grade serous carcinomas should be tested for <i>BRCA1/2</i> mutations, as they may benefit from targeted therapy with poly (ADP-ribose) polymerase inhibitors. 29541174 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 AlteredExpression group BEFREE Concurrent decreases in DYNLL1 expression in carcinomas with low BRCA1 expression reduced genomic alterations and increased homology at lesions. 30464262 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 AlteredExpression group BEFREE BRCA1-IRIS (also known as "IRIS"), an alternatively spliced <i>BRCA1</i> product and a chromatin-bound replication and transcription regulator, is overexpressed in various primary human cancers, including breast cancer, lung cancer, acute myeloid leukemia, and certain other carcinomas. 30254159 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 PosttranslationalModification group BEFREE BRCA1 methylation was detected in 22 carcinomas (6.6%) and RAD51C methylation in 9 carcinomas (2.7%). 29233532 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE We also review patient management, including the importance of risk-reducing salpingo-oophorectomy in women with deleterious BRCA1 mutations, as well as the potential need for an intraoperative pathologic assessment to find occult, high-grade carcinomas in this setting. 28463906 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE Isolated serous tubal intraepithelial carcinomas in patients with BRCA1/2 mutations are detected in ∼2% of patients undergoing risk-reducing bilateral salpingo-oophorectomy and even with removal of the tubes and ovaries the rate of developing primary peritoneal carcinoma following remains up to 7.5%. 28957950 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 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
0.400 GeneticVariation group BEFREE Histological analysis of tumors generated by BRCA1-KO fibroblasts showed that they were carcinomas with phenotypical characteristics related to the cancers of the blood donor patients. 27179759 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE During our study, a patient with an ampulla of Vater carcinoma was incidentally found to carry the BRCA2 c.156_157insAlu mutation, so we decided to test a consecutive series of additional 15 ampullary carcinomas for BRCA1/BRCA2 mutations using a combination of direct founder mutation testing and full gene analysis with next generation sequencing. 27532258 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group BEFREE We evaluate the association of the BRCA1/2 signature with overall survival on the TCGA dataset and on an independent cohort of 92 ovarian high-grade serous carcinomas from the Australian Ovarian Cancer Study (AOCS). 27496093 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE We aim to investigate the occurrence of BRCA1/2 mutations in 99 Taiwanese patients with ovarian cancer which included serous (n = 46), endometrioid (n = 24), and clear cell (n = 29) carcinomas. 27907908 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 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
0.400 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
0.400 GeneticVariation group BEFREE Predisposition to breast and extrauterine Müllerian carcinomas in BRCA1 mutation carriers is due to a combination of cell-autonomous consequences of BRCA1 inactivation on cell cycle homeostasis superimposed on cell-nonautonomous hormonal factors magnified by the effects of BRCA1 mutations on hormonal changes associated with the menstrual cycle. 26629527 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group BEFREE Paraffin sections from 239 cases of surgical resected mammary gland carcinomas were assessed to determine the role of BRCA1 gene methylation in sporadic triple-negative breast cancer and to evaluate the relationship between BRCA1 gene methylation and clinicopathologic features of triple-negative breast cancer in the National Cancer Center, China. 25783183 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group BEFREE DNA damage repair genes JWA, XRCC1 and BRCA1 were associated with clinical outcomes and could convert the response to the cisplatin-based therapy in some carcinomas. 25925371 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 AlteredExpression group BEFREE BRCA1 nuclear expression was detected in 40% of EOC, in which a mild increase in the percentage of positive cases was observed with serous histology, stage IV, and grade 3 carcinomas. 24935384 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE A subset of uterine serous carcinomas shows the loss of BRCA1 protein and is associated with germline mutation. 24681740 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation group BEFREE This study presents a genome-wide copy number analysis of occult fallopian tube carcinomas identified through risk-reducing prophylactic oophorectomy from three women with germline BRCA1 mutations, demonstrating that extensive genomic aberrations are already established at this early stage. 24726640 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker group BEFREE Nuclear VGLL1 expression was observed in 13% of sporadic breast carcinomas, and while VGLL1 was only occasionally found in luminal A (0.70%) and B (5.60%) carcinomas, it was often expressed in HER2-positive (17%), triple-negative (TN) breast carcinomas (>40%) and BRCA1-associated TN carcinomas (>50%). 24891455 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 AlteredExpression 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