Medical News & Perspectives
April 1, 2009

Promising Test Flags BRCA Mutations in Populations of Hispanic Women

JAMA. 2009;301(13):1326-1327. doi:10.1001/jama.2009.403

By conventional practice in genetic screening, Jeffrey Weitzel, MD, is looking for a needle in a haystack.

Recent research by Weitzel, chief of the Division of Clinical Cancer Genetics at City of Hope in Duarte, Calif, and others shows that certain deleterious mutations in BRCA genes, which increase the risk of breast and ovarian cancers, are more common in Hispanic women than in white or black women. But detecting those mutations in a high-risk woman would require the equivalent of scanning through a 17 000-page volume to find a specific passage of text. If he had a more efficient, less expensive screening method than current BRCA gene sequencing, Weitzel could help more women who have these mutations—and therefore a higher risk of early, aggressive breast cancer—tap into the benefits of preventive care and early cancer detection.

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