Accession Number : ADA536341


Title :   Identification, Characterisation and Clinical Development of the New Generation of Breast Cancer Susceptibility Alleles


Descriptive Note : Annual rept. 1 Mar 2008-28 Feb 2009


Corporate Author : INSTITUTE OF CANCER RESEARCH LONDON (UNITED KINGDOM)


Personal Author(s) : Rahman, Nazneen


Full Text : https://apps.dtic.mil/dtic/tr/fulltext/u2/a536341.pdf


Report Date : 01 Mar 2009


Pagination or Media Count : 42


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.


Descriptors :   *GENES , *BREAST CANCER , *CANCER SCREENING , DEOXYRIBONUCLEIC ACIDS , UNITED KINGDOM , WOMEN , GENETICS , DISEASES , CLINICAL MEDICINE , RISK


Subject Categories : Genetic Engineering and Molecular Biology
      Medicine and Medical Research


Distribution Statement : APPROVED FOR PUBLIC RELEASE