Identification, Characterisation and Clinical Development of the New Generation of Breast Cancer Susceptibility Alleles
Abstract
Breast cancer is a common disease in women but the causes are still largely unknown. There is considerable evidence that genetic factors play an important role in causing breast cancer, but the genes involved in the majority of breast cancers are currently unknown. Our aim is to identify genetic factors that increase the risk of breast cancer occurring. We have collected samples and clinical information from over 4000 breast cancer families. We compare the frequency of genetic factors in these cases with control individuals. Over the last year we have been engaged in two complementary strategies. (1) Undertaking genome-wide association analyses to identify common, low-penetrance variants that increase breast cancer risk by a modest amount. Our collaborative endeavours in this area have already led to the identification of several variants and we are currently undertaking the largest study to date that involves 4000 cases and 6000 controls. (2) Candidate gene analysis by sequencing of DNA repair genes for rare, intermediate-penetrance variants. This previously led to our identification of 4 breast cancer genes, CHEK2, ATM, PALB2 and BRIP1. We have also been investigating the interaction between breast cancer genes and have demonstrated a negative interaction between the intermediate-penetrance and high-penetrance genes, presumably because they operate in the same pathways.
Document Details
- Document Type
- Technical Report
- Publication Date
- Mar 01, 2009
- Accession Number
- ADA536341
Entities
People
- Nazneen Rahman
Organizations
- Institute of Cancer Research