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: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE RAD6B is a major mediator of triple negative breast cancer cisplatin resistance: Regulation of translesion synthesis/Fanconi anemia crosstalk and BRCA1 independence. 31639439 2020
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE We found that MA-17 also down-regulated DNA homologous recombination and the Fanconi anemia pathway (FANCA, BRCA1, and RAD51C) in A549 cells. 30793218 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE BReast Cancer Associated proteins 1 and 2 (BRCA1, -2) and Partner and Localizer of BRCA2 (PALB2) protein are tumour suppressors linked to a spectrum of malignancies, including breast cancer and Fanconi anemia. 31017574 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE BRCA1, BRCA2 and other double strand break (DSB) repair Fanconi anaemia (FA)/BRCA pathway genes were prominent contributors to this classification. 31422212 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 GeneticVariation disease BEFREE Our data expand the clinical spectrum associated with biallelic BRCA1 mutations, ranging from embryonic lethality to a mild FA-like phenotype and no chromosome fragility. 31347298 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). 28837162 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. 29133208 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 GermlineCausalMutation disease ORPHANET Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. 29133208 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE The identification of breast cancer susceptibility genes (for example, BRCA1/FANCS and BRCA2/FANCD1) as being major players in the FA pathway has led to a surge in molecular studies, resulting in the concept of the FA-BRCA pathway. 28631178 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE We found that acquired cisplatin-resistant NSCLC-derived A549/DR cells exhibited markedly enhanced FA and HR repair pathway capacities compared to its parental A549 cells and another independent NSCLC-derived cell line, Calu-1, which possesses a moderate innate resistance to cisplatin. siRNA-mediated silencing of the FA-associated genes FANCL and RAD18 and the HR-associated genes BRCA1 and BRCA2 significantly potentiated the sensitivity of A549/DR cells to cisplatin compared to A549 and Calu-1 cells, suggesting that the acquired cisplatin resistance in A549/DR cells may be attributed to enhanced FA and HR pathway capacities responsible for ICL repair. 27473273 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE Surprisingly, depleting BRCA1 or FANCD2 (Fanconi anemia [FA] proteins) or BRG1, a mSWI/SNF subunit, caused HME cells to undergo spontaneous epithelial-to-mesenchymal transition (EMT) and aberrant differentiation. 27373334 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 GeneticVariation disease BEFREE We also find that 18 VOUS BRCA1 and BRCA2 variants that are listed in BRCA Exchange are present at least once in the homozygous state in patients who lack features of Fanconi anemia. 27884173 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE Taken together, our results show that loss of Brca1 in murine BM causes hematopoietic defects similar to those seen in people with FA, which provides strong evidence that Brca1 is critical for normal hematopoiesis and that Brca1 is a bona fide FA-like gene. 26644450 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease GENOMICS_ENGLAND Taken together, our results show that loss of Brca1 in murine BM causes hematopoietic defects similar to those seen in people with FA, which provides strong evidence that Brca1 is critical for normal hematopoiesis and that Brca1 is a bona fide FA-like gene. 26644450 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE Mutations in 17 genes (FANCA-FANCS) have been identified in FA patients, defining 17 complementation groups. 26119737 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 GeneticVariation disease BEFREE Here, we report the presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23. 25472942 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, including homologous recombination in which BRCA1 and BRCA2 play important roles, we investigated whether this pathway harbors other predictors of PARP inhibitor sensitivity. 25583207 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE Because current data exclude FANCM as an FA gene, 15 genes remain bona fide FA genes and three (FANCO, FANCR and FANCS) cause an FA like syndrome. 26254775 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 GeneticVariation disease BEFREE Forty-two deleterious germline mutations were identified in 21 genes of 34 patients, including 18 (18.2%) BRCA1 or BRCA2 mutations, 3 (3%) TP53 mutations, 5 (5.1%) DNA mismatch repair gene mutations, 1 (1%) CDH1 mutation, 6 (6.1%) Fanconi anemia pathway gene mutations, and 9 (9.1%) mutations in other genes. 25927356 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE Additionally, BRCA1 was required for efficient FA core complex foci formation. 26430909 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease GENOMICS_ENGLAND Here, we report the presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23. 25472942 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE In support of this hypothesis, the set of identified genes included known determinants of olaparib sensitivity, such as BRCA1, RAD51, and Fanconi's anemia susceptibility genes. 24240700 2014
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 Biomarker disease BEFREE Here, we show that dual incision by NER endonucleases, including XPF and XPG, promotes the S-phase accumulation of the BRCA1 and Fanconi anemia-associated DNA helicase FANCJ to sites of UV-induced damage. 24351291 2014
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 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