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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN """Social separation"" among women under 40 years of age diagnosed with breast cancer and carrying a BRCA1 or BRCA2 mutation." 16724273 2006
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN 655Val and 1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations. 17452776 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Breast tumors from BRCA1 mutation carriers are predominantly of basal subtype (i.e., triple negative), and BRCA2 mutation carriers are of luminal subtype (i.e., estrogen receptor positive). 17940826 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Breast tumors (n = 3) from patients with a proven BRCA1 germline mutation also showed a significant relationship with numerical centrosome aberration (P = 0.011). 18813953 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Mammary tumor development in dogs is associated with BRCA1 and BRCA2. 19887619 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Breast tumors deficient in BRCA1 are mostly associated with basal-like breast cancers and targeted therapeutics for this disease subtype are still lacking. 29938573 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Breast tumours from BRCA1 and BRCA2 mutation carriers are genetically instable and display specific patterns of chromosomal aberrations, suggestive of distinct genetic pathways in tumour progression. 9467939 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE BRCA1-regulated genes associated with breast tumorigenesis included the estrogen-responsive genes MYC and cyclin D1, which are overexpressed in many breast tumors; STAT1 and JAK1, key components of the cytokine signal transduction pathway; the extracellular matrix protein laminin 3A; ID4, an inhibitor of DNA-binding transcriptional activators, which in turn negatively regulates BRCA1 expression; and the prohormone stanniocalcin, expression of which is lost in breast tumor cells. 12032322 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 PosttranslationalModification group BEFREE BRCA1 promoter methylation in sporadic breast tumors: relationship to gene expression profiles. 15868446 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN BRCA1 protein was much less expressed in breast tumour tissue from patients with the 5' UTR mutation than in samples from patients without the mutation. 17697535 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE BRCA1 protein was much less expressed in breast tumour tissue from patients with the 5' UTR mutation than in samples from patients without the mutation. 17697535 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group LHGDN Brca1 breast tumors contain distinct CD44+/CD24- and CD133+ cells with cancer stem cell characteristics. 18241344 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 PosttranslationalModification group BEFREE BRCA1 promoter methylation has also been observed in sporadic ovarian and breast tumors; however, BRCA2 promoter methylation has not been reported in sporadic tumors. 19340607 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE BRCA1 is considered to be a tumor-suppressor gene, yet mutations in this gene are uncommon in sporadic breast tumors. 9639385 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE BRCA1- and BRCA2-related breast tumors were distinct in their expression of steroid receptors. 9669814 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group CTD_human A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. 28825726 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group LHGDN A novel tricomplex of BRCA1, Nmi, and c-Myc inhibits c-Myc-induced human telomerase reverse transcriptase gene (hTERT) promoter activity in breast cancer. 11916966 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN A protein truncating BRCA1 allele with a low penetrance of breast cancer. 15591272 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE A set of 16 miRNAs differentially expressed between BRCA 1/2-related and BRCAX breast tumors emerged from the profile analysis. 25333258 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1. 12815598 2003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE A statistically significantly higher frequency of p53 mutations was found in breast tumors from carriers of BRCA1 mutations than from noncarriers, which adds to the accumulating evidence that loss of p53 function is an important step in the molecular pathogenesis of BRCA1 mutation-associated breast tumors. 10070948 1999
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE A total of 104 tumor tissue samples from 75 familial breast tumors (BRCA1, n = 14; BRCA2, n = 13; non-BRCA1/2, n = 48) and 29 sporadic tumors were analyzed. 24036693 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Aberrant promoter hypermethylation of PALB2 is more frequent than the reported level of PALB2 point mutations in breast tumors from BRCA1/2-negative families and is similar to the frequency of BRCA1 hypermethylation in inherited and sporadic breast and ovarian cancers. 18281473 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Abnormalities in X chromosome copy number and in the epigenetic stability of the inactive X chromosome (Xi) have been proposed to characterize BRCA1 breast tumors. 17545591 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group CTD_human Adjuvant systemic therapy for breast cancer in BRCA1BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer. 20135344 2010