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Familial Cancer : Volume 7, Issue 1, Supplement,September 2008

Familial Cancer : Volume 7, Issue 2, June 2008

Familial Cancer : Volume 7, Issue 1, March 2008

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Familial Cancer : Volume 2

Familial Cancer : Volume 1

Use of association studies to define genetic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

Content Provider	Springer Nature Link
Author	Hughes, David J.
Copyright Year	2008
Abstract	Though much progress has been made in understanding the role of two major high-risk breast cancer (BC) susceptibility genes, BRCA1 and BRCA2, it remains unclear what causes the observed variation in risk between mutation carriers. This marked variability in individual cancer risk both between and within BRCA1 and BRCA2 mutation carrier families may be partly explained by modifier genes that influence mutation penetrance. Defining these modifiers should help refine individual cancer risk estimates and is also expected to be an efficient method to identify further BC susceptibility alleles in general. This approach is predicated on the concept that variants in genes that are low to moderate penetrance predisposition genes are likely to have a larger risk modification effect in BRCA1/2 mutation carriers. Association studies are usually used to assess the influence of variants in biologically plausible candidate loci on the penetrance of BRCA1/2 mutations (i.e., differences in age of onset or tissue-specificity of disease). Several such modifier loci, including the genes AIB1 and AR involved in hormone metabolism, and the RAD51 gene acting in DNA repair, have been proposed in the literature. A consortium of laboratories (CIMBA) has recently confirmed the RAD51 135 G/C variant as a BC risk modifier in BRCA2 mutation carriers, though not in BRCA1 carriers. This review describes molecular epidemiological efforts to evaluate the potential influence of polymorphic variants in candidate modifier genes on the risk of BC conferred by the BRCA1 and BRCA2 genes.
Starting Page	233
Ending Page	244
Page Count	12
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	7
Issue Number	3
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2008-02-19
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Association studies BRCA1 BRCA2 Breast cancer Cancer risk modification Modifiers Mutation carrier Biomedicine general Epidemiology Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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