ASCO GI 2024 | One of these is not like the others: A descriptive study of the attenuated phenotype of PMS2

Edward D. Esplin, MD, PhD, Invitae, San Francisco, CA, presents a retrospective study comparing the phenotypes of individuals with PMS2 pathogenic germline variants (PGVs) to those with other Lynch syndrome (LS) variants. Analyzing data from a commercial laboratory database, the study involved 17,711 patients with single PGVs in LS genes (5,189 PMS2, 5,182 MSH6, and 7,340 MLH1/MSH2/EPCAM). PMS2 carriers, older at testing and with less family cancer history, demonstrated lower odds of colorectal and uterine cancers compared to MSH6 and MLH1/MSH2/EPCAM cohorts. These findings align with prior registry studies and contribute to counseling and managing individuals with PMS2 PGVs. The study commenced enrollment in December 2022. This interview took place at the 2024 ASCO Gastrointestinal (GI) Cancers Symposium in San Francisco, CA.

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