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: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE We used integrated molecular characterization of oviductal HGSCs arising in the context of Brca1, Trp53, Rb1, and Nf1 (BPRN) inactivation to determine whether the mouse tumors recapitulate human HGSCs across multiple domains of molecular features. 31806642 2020
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE Intraepithelial fallopian tube neoplasia is thought to be a precursor lesion to high-grade serous carcinoma of the Müllerian adnexae, particularly in women with BRCA1 or BRCA2 mutations. 31033800 2019
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE We conducted a retrospective study on the prevalence of high grade serous carcinoma and STIC in BRCA1/2 carriers presenting for RRSO, and their follow-up. 30894273 2019
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma. 30940100 2019
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE The goal of the study is to report the frequency of subsequent BC and high-grade serous carcinoma (HGSC) following RRSO in BRCA1 and BRCA2 mutation carriers and in patients with personal history of BC with or without BRCA mutation. 30055521 2018
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE Understanding of the genomics of HGSC has led to the routine introduction of germline and somatic BRCA1/2 testing, as well as testing of mutations in other homologous recombination genes, widening the range of patients who may benefit from PARP inhibitors. 29282716 2018
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE BRCA1 and MAD2 Are Coexpressed and Are Prognostic Indicators in Tubo-ovarian High-Grade Serous Carcinoma. 30814209 2018
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE BRCA1 and MAD2 Are Coexpressed and Are Prognostic Indicators in Tubo-ovarian High-Grade Serous Carcinoma. 29465507 2018
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE Here we have used one ID8 Trp53 <sup>-/-</sup> clone to generate further mutants, with additional mutations in Brca1, Pten and Nf1, all of which are frequently mutated or deleted in HGSC. 29203787 2017
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE We employed Ovgp1-iCreER<sup>T2</sup> mice to show that FTE-specific inactivation of several different combinations of tumour suppressor genes that are recurrently mutated in human HGSCs - namely Brca1, Trp53, Rb1, and Nf1 - results in serous tubal intraepithelial carcinomas (STICs) that progress to HGSC or carcinosarcoma, and to widespread metastatic disease in a subset of mice. 28608929 2017
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE Carriers of <i>BRCA1/2</i> or any other tested gene pathogenic variants were more likely to be diagnosed younger, have first or second-degree relatives with OC, and have OC classified as high-grade serous carcinoma (HGSC). 29348823 2017
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 AlteredExpression disease BEFREE High expression levels of HER2 and PD-L1 were more commonly observed in CCC patients (12.6% vs 2.7%, 21.1% vs 11.6%, P = 0.006, 0.064, respectively), while loss of BRCA1 and BRCA2 expression were more frequently occurred in HGSC patients (72.6% vs 54.3%, 89.4% vs 79.8%, P = 0.007, 0.054, respectively). 28187748 2017
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease 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: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE Substantial progress has been made in identifying genes that are associated with a high risk of ovarian cancer (such as BRCA1 and BRCA2), as well as a precursor lesion of HGSC called serous tubal intraepithelial carcinoma, which holds promise for identifying individuals at high risk of developing the disease and for developing prevention strategies. 27558151 2016
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE A BRCA1/2 mutational signature is a prognostic marker in ovarian high-grade serous carcinoma. 27496093 2016
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE Whereas the diagnosis of high-grade serous carcinoma is an indication for BRCA1/2 germline testing, in contrast, there are no screening guidelines in place for triaging OC patients for LS testing based on histotype. 25025451 2014
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE Endometrium is not the primary site of origin of pelvic high-grade serous carcinoma in BRCA1 or BRCA2 mutation carriers. 23080033 2013
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE BRCA1 disruptions were associated with the C2 (immunoreactive) molecular subtype of HGSC, characterized by intense intratumoral T-cell infiltration. 23633455 2013
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE In all, 103 cases were high-grade serous carcinoma and of these 31 (30%) had germline or somatic BRCA1 or BRCA2 mutations (20% BRCA1 and 10% BRCA2) (group 1), 21 (20%) had methylation of BRCA1 (group 2), and in 51 (50%) there was no BRCA loss (group 3). 22282309 2012
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE Thus, the molecular similarity of BRCA1/2-mutated luteal phase FTE and HGSC likely results from an altered response to luteal phase factors other than progesterone. 21263043 2011
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 Biomarker disease BEFREE DNA ploidy and gene expression profile were used in order to compare gross genomic alteration and gene expression pattern between cases with BRCA1 loss through mutation, BRCA1 epigenetic loss, and no BRCA1 loss in cases of high-grade serous carcinoma with known BRCA1 and BRCA 2 status. 20843305 2010
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
0.100 GeneticVariation disease BEFREE Little is known regarding the miRNA expression profiles of high grade serous carcinoma in relation to BRCA1/2 status, and compared to normal tubal epithelium, the putative tissue of origin for high grade serous carcinomas. 19798417 2009