Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
作者： Anna Marie Mulligan , Fergus J Couch , Daniel Barrowdale , Susan M Domchek , Diana Eccles
DOI: 10.1186/BCR3052
关键词:
摘要: Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these different subtypes in and carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. Methods: We used genotype data on up to 11,421 7,080 carriers, whom 4,310 had been affected information either ER PR tumour, assess associations 12 loci tumour characteristics. Associations were evaluated using a retrospective cohort approach. Results: The results suggested stronger ER-positive than ER-negative 11 both Among single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited biggest difference based (per-allele hazard ratio (HR) = 1.35, 95% CI: 1.17 1.56 vs HR 0.91, 0.85 0.98 ER-negative, P-heterogeneity 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily SNPs FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, 1p11.2 significantly but not disease. Similar observed when differentiating cases status. Conclusions: differ apparent differences between non-carriers, may be explicable prevalence subtypes. As more modifying variants identified, incorporating into subtype-specific models improve clinical management
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