In Reply We appreciate the opportunity to respond to the letters received regarding our article. We have made every effort to thoroughly address the raised questions and comments.
We agree with Beggs that there is no proof that genes such as BRCA1/2, PALB2, CHEK2, and CDKN2A were the driver for these patients’ early-onset colorectal cancers (CRC). The article stated that it was unclear what impact, if any, these mutations had in CRC development, so as to not imply that they were a relevant driver. However, we believe that the findings are important clinically to the patients and their relatives at high risk for the cancers associated with pathogenic germline mutations in these genes. All mutation-positive individuals will need to follow intensive surveillance and prevention options as recommended by the National Comprehensive Cancer Network.1
Pearlman R, de la Chapelle A, Hampel H. Mutation Frequencies in Patients With Early-Onset Colorectal Cancer—Reply. JAMA Oncol. Published online July 06, 2017. doi:10.1001/jamaoncol.2017.1744