Robson ME, Bradbury AR, Arun B, et al. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol. 2015;33(31):3660-3667. doi:10.1200/JCO.2015.63.0996

Meric-Bernstam F, Brusco L, Daniels M, et al. Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. Ann Oncol. 2016;27(5):795-800. doi:10.1093/annonc/mdw018

• Compared germline and somatic findings for 1000 tumors.
• Results for Lynch syndrome genes:
• MLH1 19 somatic, 0 germline
• MSH2 12 somatic, 1 germline
• MSH6 27 somatic, 4 germline
• PMS2 was not reported on

Moody EW, Vagher J, Espinel W, Goldgar D, Hagerty KJ, and Gammon A. Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes. JCO Precision Oncology 2019 :3, 1-8. DOI: 10.1200/PO.19.00144 JCO Precision Oncology - published online October 30, 2019

• Tumor genomic profiling results may have different classifications as compared to a germline context. What may be called a variant of unknown significance in the tumor may be classified as pathogenic in the germline