New Genetic Variations Associated With Risk of Breast Cancer Identified
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New Genetic Variations Associated With Risk of Breast Cancer Identified

BETHESDA, Md -- March 31, 2009 -- Researchers have identified new genetic variations in 2 regions of DNA -- located on chromosomes 1 and 14 -- that may be associated with the risk of sporadic breast cancer. The study is published in the March 29 online issue of the journal Nature Genetics.

The findings by the Cancer Genetic Markers of Susceptibility (CGEMS) team, which includes researchers at the National Cancer Institute (NCI), also confirms some of the previously identified associations between specific regions in the genome and breast cancer risk.

"By studying large populations of individuals with and without disease, CGEMS research can provide powerful indicators as to which SNP variations are associated with breast cancer," said Stephen Chanock, MD, NCI's Core Genotyping Facility, Division of Cancer Epidemiology and Genetics (DCEG).

"The 2 new regions identified in our study open up great possibilities for research into novel pathways contributing to the development of breast cancer. In turn, an in-depth understanding of the biology underlying the contribution of these genetic variations could one day lead to new approaches for therapy or prevention of breast cancer."

The region identified on chromosome 1 contained the rs11249433 single nucleotide polymorphism (SNP). Although the function of this SNP is unknown, further analysis by the CGEMS team found that this region is predominately associated with oestrogen receptor-positive breast cancer.

The newly identified region found on chromosome 14, which included the rs999737 SNP, is located near an interesting gene, RAD51L1, which is in a pathway previously implicated in breast cancer risk. The protein encoded by this gene interacts directly with those of other genes that are involved in DNA repair and in the exchange of material between strands of DNA.

The researchers also confirmed previous reports that 6 other genomic regions -- located on chromosomes 2, 5, 8, 10, and 16 -- are associated with breast cancer risk. Further study of these regions may help to identify possible mechanisms that may contribute to the development of breast cancer.

The CGEMS team conducted a 3-stage genome-wide association study in women of European ancestry to identify SNPs that were associated with breast cancer.

SOURCE: National Institutes of Health

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