A consortium of cancer scientists has identified four chromosome locations with genetic changes that are likely to alter a woman's risk of developing ovary cancer. The findings are published in Nature Genetics in an article authored by a Mayo Clinic researcher.

Scientists say that while more needs to be learned about the function of the specific chromosomal regions involved in susceptibility, the discoveries move them a major step closer to individualized risk evaluations for ovary cancer. In the future, women at greatest risk due to these and other inherited changes appears to be offered increased surveillance or preventive measures.

"In searching the genome, we came up with some surprises on chromosomes 2, 3, and 17," says Ellen Goode, Ph.D., Mayo Clinic genetic epidemiologist and main author. "While examining the usual suspects in a region on chromosome 8, we observed that SNPs linked to ovary cancer risk were located quite a distance away from those linked to risk of other cancers, which suggest that they may act through a different mechanism." SNPs, single nucleotide polymorphisms, are common genetic variants associated, in this case, with cancer risk.

The findings come from a large genome-wide association study (GWAS) that spanned three continents. Following an initial study in over 1,700 cases, the scientists followed up with a study of over 24,000 women. They narrowed the focus to nine regions and confirmed that three loci (locations on the chromosome) were much stronger than the others and a fourth "approached genome-wide significance." These particular loci are linked to serous ovary cancer, the most aggressive and common of the four main types of the disease.


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