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Melanoma Genetics — SCE Medical Oncology MCQ

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HardMelanoma & SkinMelanoma GeneticsSCE Medical Oncology

A 42-year-old patient has had two primary cutaneous melanomas. Their mother and maternal uncle had melanoma, and a cousin had a BAP1-inactivated melanocytic tumour. The regional genetics service accepts the referral. Which germline testing strategy best matches the NHS Genomic Test Directory pathway described for familial melanoma?

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Correct answer: B — A small familial-melanoma panel including CDKN2A, CDK4, BAP1 and POT1

NHS genomic guidance describes a small germline panel for qualifying familial melanoma that includes CDKN2A, CDK4, BAP1 and POT1. Tumour BRAF status guides treatment but is not the principal germline familial-melanoma test. The family phenotype is not reduced to BRCA testing, and unrestricted whole-genome sequencing is not the default substitute for phenotype-led testing through clinical genetics.

Reference: NHS Genomics Education: patient with cutaneous melanoma (Current NHS genomic guidance, accessed August 2026): https://www.genomicseducation.hee.nhs.uk/genotes/in-the-clinic/presentation-patient-with-cutaneous-melanoma/