An analysis of genetic and environmental modifiers of breast cancers risk

Breast Cancer Susceptibility Genes (BRCA) 1 and 2 are tumour suppressor genes that maintain genomic stability by repairing damaged DNA. Pathogenic mutations in these genes disrupt their role as tumour suppressors and can predispose to various malignancies, in particular those of the breast or ovary. Single gene mutations in BRCA 1 or BRCA 2 account for only 5-15% of the inherited risk of breast cancer. The penetrance of mutations in these genes is high but variable, and it has observed that disease development; phenotype or age of onset can vary widely between individuals in the same family with identical gene mutations. A large body of work suggests that other genetic, or environmental factors, may interplay with single gene mutations to alter disease risk. Several common variants have been identified as putative modifiers of breast cancer risk. The aim of our study is to examine the prevalence of these variants in a sample of Irish BRCA1/BRCA2 mutation carriers. Furthermore, we aim to carry out a case-control analysis to investigate the prevalence of these variants in a sample of patients with breast cancer unselected for family history. To increase accuracy of risk estimates, a multivariate analysis accounting for lifestyle and environmental factors will be performed, and risk correlated with genotype and disease phenotype.

Award Date
15 May 2014
Award Value
Principal Investigator
Dr Terri McVeigh
Host Institution
National University of Ireland, Galway
National SpR Academic Fellowship Programme/HRB Joint Funding Scheme