Identification, Characterisation and Clinical Development of the New Generation of Breast Cancer Susceptibility Alleles
Annual rept. 1 Mar 2009-28 Feb 2010
INSTITUTE OF CANCER RESEARCH LONDON (UNITED KINGDOM)
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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 during the last year we completed the largest breast cancer genome-wide association study to date identifying five new breast cancer susceptibility loci. 2 Undertaking mutational analyses to identify rare, low or intermediate penetrance variants. This previously led to our identification of 4 breast cancer genes, CHEK2, ATM, PALB2 and BRIP1. In the last year we have begun exome sequencing and we aim to sequence 20 exomes in breast cancer patients and to follow-up promising genes within the final year of the grant.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research