【摘 要】
：
Genetic interactions that modify cancer risk estimates can provide insight into fundamental mechanisms of carcinogenesis.Combined with complementary strategies, a systems-level investigation of gene e
【机 构】
：
Child and Family Research Institute University of British Columbia Canada
【出 处】
：
(BITs 3rd Annual World Cancer Congress-2010, Breast Cancer C
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Genetic interactions that modify cancer risk estimates can provide insight into fundamental mechanisms of carcinogenesis.Combined with complementary strategies, a systems-level investigation of gene expression profiles associated with BRCA1 mutations identified HMMR as a putative low-penetrance breast cancer predisposition allele (Pujana et al.,Nat Genet.2007).Moreover, linkage analysis suggested the presence of one or more genes on chromosome 5q33-34, the location of HMMR, that modify breast cancer risk in BRCA1 mutation carriers (Nathanson et al., Hum Mol Genet.2002).Here, we identify specific modification of cancer risk, linked to estrogen receptor-negative tumors, by common genetic variation at the HMMR locus among BRCA1 germline mutation carriers (N=5,447; HR=1.08; 95%CI=1.03-1.15; adjusted for center and family cluster P=0.003), but not carriers of BRCA2 mutations (N=2,941;HR=1.01; 95% CI=0.94-1.10; P=0.72).
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