Patients with suspected hereditary breast and/or ovarian cancer (HBOC) risk who undergo multigene panel testing are likely to identify with cancer risk gene mutations substantially more often than those individuals who undergo BRCA1/2 testing alone, according to a study of 1,046 patients who were appropriate candidates for HBOC evaluation and who lacked BRCA1/2 mutations. Identifying such mutations is likely to alter management for the majority of these individuals. Study results showed:
• 40 BRCA1/2-negative patients (3.8%) harbored deleterious mutations, most commonly in moderate-risk breast and ovarian cancer genes.
• Among all 63 mutation-positive patients, additional disease-specific screening and/or prevention measures beyond those based on personal and family history alone would be considered.
• Additional familial testing would be considered for those with first-degree relatives based on potential management changes for mutation-positive relatives.
Citation: Desmond A, Kurian AW, Gabree M, et al. Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol. [Published online ahead of print August 13, 2015]. doi: 10.1001/jamaoncol.2015.2690.
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