PTEN and PTEN hamartoma tumor syndrome: First, the identification of undiagnosed carriers within AoU validates that PHTS is indeed underdiagnosed and its prevalence underestimated.13 Second, the observation of non-component phenotypes through unbiased enrichment analyses raises the possibility that germline PTEN variants contribute to a wider range of systemic manifestations than currently recognized, suggesting opportunities for validation studies to delineate these associations.