Skin Cancer Predisposition Genes, Full-Body Skin Examinations, Familial Disclosure, and Genetic Testing Among...

There is a lack of knowledge in full-body skin examinations (FBSEs) in the context of pathogenic or likely pathogenic variants (PV/LPV) in skin cancer predisposition genes (CPGs). This study assessed the association between carrier status of PV/LPV in skin CPGs and FBSEs and described the patterns of family letter receipt, familial disclosure, and cascade testing among high-risk individuals.

Between July and September 2023, we surveyed participants enrolled in the Chicago Cancer Prone Study. Carrier status of PV/LPV in skin CPGs was defined as having been told by a genetic counselor that they have a PV/LPV in CDKN2A, TP53, PTEN, BRIP1, PALB2, ATM, and/or CHEK2 genes. FBSEs were assessed by asking individuals whether they ever had an FBSE and modeled using logistic regression.

Of 579 individuals (mean age, 59.5 years), 11.6% carry PV/LPV in skin CPGs and 63.8% ever had a FBSE. Carriers had greater odds of FBSEs than non-carriers (adjusted odds ratio, 2.15; 95% CI, 1.03-4.52). White race, older age, and female sex were associated with increased odds of FBSEs. Among carriers, 65.3% received a family letter from their genetic counselor after testing; 91.0% disclosed their PV/LPV-carrying status to any family members, and 62.7% of the individuals' family members underwent genetic testing.

We found greater odds of FBSEs among PV/LPV carriers, notable disparities in FBSEs, and prevalent family letter receipt, familial disclosure, and cascade testing. This study highlights the role of PV/LPV-carrying status on FBSEs and the potential need for comprehensive guidelines beyond known risk factors to optimize skin cancer screening in high-risk populations.