Nichola Johnson

TL;DR: Large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 and the Breast Cancer Association Consortium are analyzed to reassess histopathological predictors of B RCA1 and BRCa2 mutation status, and robust likelihood ratio estimates for statistical modeling are refined.

TL;DR: The relative risks for breast cancer associated with the common susceptibility variants identified to date do not appear to vary across women with different reproductive histories or body mass index (BMI); the assumption of multiplicative combined effects for these established genetic and other risk factors in risk prediction models appears justified.

TL;DR: SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations and appears largely confined to oestrogen receptor-positive tumour risk.

TL;DR: A genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry and validation in independent sample sets totaling 438 cases and 474 controls finds a SNP in RAD51B at 14q24.1 was significantly associated withmale breast cancer risk.

TL;DR: Capture Hi-C is used to identify 110 putative target genes at 33 loci and assessed associations of gene expression, SNP genotype, and survival, providing evidence of mechanisms that may influence the prognosis and risk of breast cancer.