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Using Multiple-Gene Panels for Medical Decisions

With advances in genetic testing, we can simultaneously test for mutations in multiple genes. While exciting, this technology is still new. All we know about BRCA1/2 mutations and cancer risk comes from years of research. Likewise, research is needed to learn how mutations in other genes affect cancer risk, and to help people make informed health care decisions.

A recent report looked at multiplegene panel tests in 198 women who had genetic testing over a 10-year period, including 141 individuals who had previously tested negative for BRCA mutations. When samples were screened for 42 genes associated with increased risk of breast or other cancers, 16 individuals had mutations in other genes associated with increased cancer risk, including one woman with a Lynch Syndrome mutation. Experts provided the women with new recommendations for screening and prevention based on their results.

Additionally, 88% of these women had a VUS in at least one gene. More research is needed to understand which of these variants are associated with increased cancer risk and which are not. Genetics experts will play critical roles in helping patients who test negative for mutations in BRCA1/2 to understand these new tests, and FORCE will continue to educate and support people and families facing hereditary cancer.

References

"Clinical evaluation of multiple-gene sequencing panel for hereditary cancer risk assessment.” Journal of Clinical Oncology April 14, 2014; e-published ahead of print.

Couch FJ, Nathanson KL, and Offit K. “Two decades after BRCA: setting paradigms in personalized cancer care and prevention.” Science 2014; 343(6178):1466-70.

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