Identification, Characterization and Clinical Development of the New Generation of Breast Cancer Susceptibility Alleles. Revision
Revised annual rept. 1 mar 2007-29 Feb 2008
INSTITUTE OF CANCER RESEARCH LONDON (UNITED KINGDOM)
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Breast cancer is a common disease in women but the causes are still largely unknown. There is considerable evidence to suggest 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 chance of breast cancer occurring. We have collected clinical information and samples from over 1500 breast cancer families. We compare the frequency of genetic factors in these cases with control women without breast cancer. Within the last few years we have used this new strategy to identify three new intermediate breast cancer predisposition genes, ATM, BRIP1 and PALB2, and have contributed to genome-wide association studies to identify six low-penetrance breast cancer susceptibility variants. Together these account for 5 of excess risk of breast cancer. We are have also directly evaluated 15,000 coding genetic variants and aim to extend these studies to undertake whole genome resequencing in breast cancer cases in the near future.
- Medicine and Medical Research