Identification, Characterization and Clinical Development of the New Generation of Breast Cancer Susceptibility Alleles
Abstract
Enter a brief (approximately 200 words) unclassified summary of the most significant finding during the research period. 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 was to identify genetic factors that increase the risk of breast cancer occurring by performing analyses in our unparalleled series familial breast cancer samples. Using a candidate gene familial case-control design we identified three new breast cancer genes, ATM, PALB2 and BRIP1. By performing the largest genome-wide association analysis undertaken to date, in ~4000 familial breast cancer samples, we identified five new common genetic variants that predispose to breast cancer. In our final year we have optimized new sequencing technologies to analyse all genes (known as the "exome") and undertook a pilot analysis of the exome in 20 familial breast cancer cases. We aim to use this technique in the future to uncover more of the genetic variants that cause breast cancer.
Document Details
- Document Type
- Technical Report
- Publication Date
- Mar 01, 2011
- Accession Number
- ADA544966
Entities
People
- Nazneen Rahman
Organizations
- Institute of Cancer Research