Few With Hereditary Melanoma Harbor Pathogenic Variant in Melanoma Predisposition Gene

WEDNESDAY, Sept. 2, 2026 (HealthDay News) -- Among patients referred for suspected hereditary melanoma (HM) testing, only 8.6 percent harbor a germline pathogenic variant (GPV) in an established melanoma predisposition gene (MPG), according to a study published online Aug. 16 in the Journal of the American Academy of Dermatology.Ethan Bendayan, M.D., from McGill University in Montreal, and colleagues conducted a retrospective review of patients referred for suspected HM testing between 2014 and 2026 at two tertiary centers.Eighty-one patients were included (64.2 percent female; 94.9 percent White). The researchers found that testing was negative in 74.1 percent of patients. Only seven patients (8.6 percent) harbored a GPV in MPGs; five patients (6.2 percent) had variants of unknown significance in MPGs. Prevalence was equal (3.7 percent) for CDKN2A- and MITF-associated HM. GPV carriers had younger median age at first melanoma (40.0 versus 48.0 years), higher rates of family history of melanoma (71.4 versus 53.8 percent), more invasive index melanomas (83.3 versus 54.7 percent), and deeper Breslow depth in index melanomas (median, 1.2 versus 0.8 mm) compared with negative patients. Twenty-four (35.3 percent) patients met the threshold for the "rule of 3s" (three or more melanomas or pancreatic cancers in an individual or family as a threshold conferring about 30 percent probability of CDKN2A GPV carriage); only two patients (8.3 percent) carried MPG GPVs. Meeting these criteria was not associated with increased odds of an MPG GPV or any MPG variant, including of unknown significance."Over 60 percent of GPVs were non-CDKN2A-associated, and the 'rule of 3s' did not predict MPG GPV carriage, underscoring the need for updated, gene-agnostic referral frameworks," the authors write.Abstract/Full Text (subscription or payment may be required).Sign up for our weekly HealthDay newsletter

Few With Hereditary Melanoma Harbor Pathogenic Variant in Melanoma Predisposition Gene

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