Multigene testing for hereditary breast and/or ovarian cancer that tests for more gene mutations than BRCA1/2 is more likely to inform clinical decision-making than testing for BRCA1/2 alone, according to a new study published online ahead of print in JAMA Oncology.
"The traditional approach has been to test most women with suspected hereditary risk for breast and/or ovarian cancer for BRCA1/2 alone," senior author Leif Ellisen, MD, PhD, program director for Breast Medical Oncology at the MGH Cancer Center said.
Of 1,046 study participants, 40 BRCA1/2-negative patients harbored deleterious mutations. The most common mutations were in CHECK2, ATM, PALB2, and Lynch syndrome genes. Researchers found that for the majority those and an additional 23 mutation-positive patients their clinics, additional disease-specific screening and/or prevention measures other than those based on personal and family history alone would be considered.
"Our study shows that, even under current practice guidelines, finding mutations in these other genes is likely to change the clinical management recommendations both for patients and for family members who also carry the associated mutations," explains Dr. Ellisen.
A study by researchers at three academic medical centers has shown that screening women with a suspected risk of hereditary breast or ovarian cancer for risk-associated genes other than BRCA1 and 2 provides information that can change clinical recommendations for patients and their family members.
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