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A recent study conducted by the University of Pennsylvania has revealed new findings on genetics, specifically regarding the identification of a pathogenic PMS2 variant in Black patients. The study investigated the frequency of a clinically reported variant in PMS2 in racially diverse cohorts. The researchers found that the variant, PMS2 c.2523G>A p.(W841), is typically an African-ancestry-specific PMS2CL pseudogene variant, which should be recognized to prevent misdiagnosis of Lynch syndrome in Black individuals. This research provides important insights into the genetic factors that can impact healthcare outcomes for diverse populations. [Extracted from the article]