Multigene Testing Identifies More Mutations in Breast, Ovarian Cancer

Multigene testing for hereditary breast and/or ovarian cancer (HBOC) identifies more mutations that are likely to change clinical management, according to a study published in JAMA Oncology.

Andrea Desmond, from the Massachusetts General Hospital Cancer Center in Boston, and colleagues conducted an observational study of patients from three large academic medical centers.

A total of 1,406 individuals who were appropriate candidates for HBOC evaluation and who lacked BRCA1/2 mutations were enrolled prospectively.

The researchers found that 40 BRCA1/2-negative patients (3.8 percent) harbored deleterious mutations, most often in moderate-risk breast and ovarian cancer genes (CHEK2, ATM, and PALB2) and Lynch syndrome genes.

Most of the mutations (92 percent) among these and an additional 23 mutation-positive individuals enrolled from the clinic were consistent with the spectrum of cancer(s) observed in the patient or family, indicating clinical significance.

For most (52 percent) of these 63 mutation-positive patients, additional disease-specific screening and/or prevention measures beyond those based on personal and family history alone would be considered.

Based on potential management changes for mutation-positive relatives, additional familial testing would also be considered for those with first-degree relatives (42 of 58).

RELATED: Breast, Ovarian Cancer Risk Varies with BRCA Mutation Location

“In a clinically representative cohort, multigene panel testing for HBOC risk assessment yielded findings likely to change clinical management for substantially more patients than does BRCA1/2 testing alone,” the authors write.

One author disclosed financial ties to Myriad Genetics. Several authors are employees of Invitae Corporation, a testing laboratory that furnished the 29-gene panel test results used in the study.

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