This multicentre retrospective cohort study evaluated the prevalence of hereditary melanoma among patients referred for genetic testing, examining how often a pathogenic or likely pathogenic variant was identified in melanoma-predisposition genes.
The study found a low prevalence of hereditary melanoma among referred patients, though specific numeric results (e.g., exact yield percentages or variant counts) are not available from the provided source text.
Retrospective design limits causal inference; referral bias may overestimate yield compared to unselected populations; specific gene panel compositions and referral criteria may vary across centres.
Clinicians should be aware that even among patients referred for genetic testing for melanoma, the yield of actionable hereditary variants is low. This suggests a need for refined referral criteria to improve the efficiency of genetic testing programs.
