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Mutation regions mapped on genes that cause breast and ovarian cancer

Analysis of BRCA genes could someday be used for personalized medicine

3:00pm, April 7, 2015

Where mutations occur in two important cancer genes can affect a woman’s risk of breast or ovarian cancer, a study of thousands of women shows. An analysis of mutations in the BRCA1 and BRCA2 genes reveals that women with breast cancer and women with ovarian cancer harbored mutations in different regions of the genes. The report appears in the April 7 JAMA

The biological effect of the specific mutated regions is not yet understood, says study coauthor Timothy Rebbeck, an epidemiologist at the University of Pennsylvania.

Normal BRCA genes encode proteins that are cancer suppressors. The mutated versions confer a high risk of breast and ovarian cancer on women who carry them.

The researchers assembled genetic information from nearly 20,000 women who carried a mutated BRCA1 gene. Of this group, 46 percent had breast cancer, 12

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