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 BEFREE Breast tumors of patients with germ-line mutations in the BRCA1 and BRCA2 genes have more genetic defects than sporadic breast tumors. 11692153 2001
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 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 GeneticVariation group BEFREE Breast tumors (n = 33) derived from BRCA2 999del5 mutation carriers were examined in terms of copy-number changes with high-resolution aCGH (array comparative genomic hybridization) containing 385 thousand probes (about one for each 7 kbp) and expression of phenotypic markers on TMAs (tissue microarrays). 21958427 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Breast tumors from BRCA2 mutation carriers showed significantly higher frequency of chromosome end-to-end fusions (CEFs) than tumors from non-carriers despite normal telomere DNA content. 22019625 2012
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE BRCA2 overexpression (but not underexpression) correlated significantly with Scarff, Bloom and Richardson (SBR) histopathological grade III (P=0.007) and was mainly attributed to nuclear polymorphism (P=0.005) and mitotic index (P=0.048), suggesting that the BRCA2 gene contributes to the proliferation rate in breast tumours. 10498873 1999
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE BRCA2 is a breast tumor suppressor with a potential function in the cellular response to DNA damage. 10551859 1999
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE BRCA2 has been found to be overexpressed in many breast tumors, suggesting that altered expression of the BRCA2 gene may contribute to breast tumorigenesis. 10961992 2000
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE A mutation found in the BRCA1 or BRCA2 gene of a breast tumor could be either germline or somatically acquired. 27194814 2016
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 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk. 18204050 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE An elevation of additional genetic defects in tumors of patients with germ-line mutation in the BRCA2 gene compared with sporadic breast tumors has been reported. 9766673 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Association of breast tumor susceptibility gene products BRCA1 and BRCA2 with the RAD51 recombination protein suggested that cancer could arise through defects in recombination. 10362364 1999
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE At the BRCA2 locus, AI rates were 49% and 44% for ovarian and breast tumors, respectively. 11251173 2001
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Aurora-A amplification has been shown to be associated with breast tumors from BRCA2-mutation carriers and such patients might therefore be candidates for treatment with Aurora kinase inhibitors. 20960027 2012
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group LHGDN Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. 12677558 2003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: a population-based study. 17257844 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. 15365993 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling. 12453858 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN BRCA1 and BRCA2 in Indian breast cancer patients. 12442273 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. 12442275 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN BRCA1 and BRCA2 mutations as prognostic factors in bilateral breast cancer patients. 15319244 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN BRCA1 and BRCA2 mutations in Russian familial breast cancer. 11793480 2002