Multigene Panel Testing: Planning the Next Generation of Research Studies in Clinical Cancer Genetics

Kurianetal 1 accompanyingthiseditorialdescribestheresultsofan early deployment of this technology in the oncology clinic. The investigators performed multiplex testing using a custom panel on a collection of samples from women who had previously undergone evaluation for breast-ovarian cancer predisposition. Most of these women were affected by and had family histories of breast and/or ovarian cancer. As expected, the most common mutations observed were in BRCA1 and BRCA2, with nearly (but not quite) complete concordance with prior commercial testing. There were alsoanumberofindividualsinthegroupwhocarriedmutationsin other genes, including one woman with an unequivocal mutation in MLH1. The authors considered many of these additional findings to be “potentially actionable,” and concluded that multiplex testingresultedinchangesinrecommendationsforpreventivecare