Date of Award
Thesis - Open Access
MS Human Genetics
Human Genetics Graduate Program
Our purpose is two-fold: (1) to identify patients who may benefit from referrals to cancer genetic counseling by characterizing the alterations reported in tumor profiling reports without matched germline control, and (2) to assess the utility of public database ClinVar in providing further information on these alterations. We assessed 160 reports across 66 tumor types. 127 (79%) reports had a mutation in 1 of 86 selected cancer predisposition genes. Of these, 29 (23%) did not meet ACMG/NSGC criteria for referral based on tumor type alone. 19% of mutations in selected genes were found in ClinVar, with 15% reported as both germline and on the pathogenic spectrum. 31% of VUSs in selected genes were found in ClinVar, with 2% reported as both germline and on the pathogenic spectrum. Our results highlight a potential to miss patients at increased risk of cancer predisposition syndromes based on tumor type alone.
McDuffee, Margaret and Ning, Michelle, "Assessing Tumor Genomic Profiling Reports for Genetic Counseling Referral Indications" (2016). Human Genetics Theses and Capstones. 18.