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Familial melanoma is melanoma that runs in families, most often because of a fault in the CDKN2A gene, which also raises the risk of pancreatic cancer. People who carry it are offered skin checks every three to six months and, from age 40, regular pancreas scans.
About 10% of people with melanoma report a family history, but true hereditary melanoma is rare; germline CDKN2A variants are the commonest known cause (Soura, J Am Acad Dermatol 2016). The familial atypical multiple mole melanoma syndrome joins many atypical naevi, early and multiple primary melanomas, and pancreatic cancer, whose risk is estimated at 13 to 22 times the population's and 38 times in CDKN2A-mutant families. About 45% of familial melanomas are associated with germline variants in CDKN2A or, rarely, CDK4.
Management: intensive dermatological surveillance at three to six-month intervals, possibly with total body photography and dermoscopy, and strict sun protection, for carriers and for relatives whatever their test result; referral of CDKN2A carriers to a service familiar with pancreatic screening (Soura 2016). The CAPS consortium (2020) recommends pancreatic surveillance for all CDKN2A carriers regardless of family history, starting at 40, with repeat imaging within three to six months of a concerning but non-surgical finding.
In plain words · CDKN2A (Cyclin-dependent kinase inhibitor 2A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Bladder & urothelial cancer and 5 more.
Showing the target this term concerns: CDKN2A.
Shares Color Hereditary Cancer Test, Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium, High-risk pancreatic surveillance (CAPS / PRECEDE), Hereditary cancer syndromes and the tag hereditary.
Shares MyRisk Hereditary Cancer (Myriad Genetics), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Color Hereditary Cancer Test, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares MyRisk Hereditary Cancer (Myriad Genetics), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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