# Familial atypical multiple mole melanoma syndrome (familial melanoma)

Source: https://onco.cc/terms/familial-atypical-multiple-mole-melanoma/  
OnCo record `familial-atypical-multiple-mole-melanoma` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Summary

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.

## Fields

- Kind: Term
- Last checked: 2026-11-04
- Also known as: FAMMM; FAMMM syndrome; familial melanoma; hereditary melanoma; dysplastic naevus syndrome; dysplastic nevus syndrome; melanoma-pancreatic cancer syndrome
- Tags: gap-fill; hereditary

## Notes

- NHS England genomic test directory: R254, familial melanoma. Orphanet ORPHA:404560 (FAMMM syndrome) and ORPHA:618 (familial melanoma).

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Dysplastic_nevus_syndrome
- Soura, J Am Acad Dermatol 2016: hereditary melanoma, genetics of familial atypical multiple mole melanoma syndrome: https://doi.org/10.1016/j.jaad.2015.08.038
- Goggins, Gut 2020: CAPS consortium recommendations for people at increased risk of pancreatic cancer: https://doi.org/10.1136/gutjnl-2019-319352
- Orphanet ORPHA:404560: https://www.orpha.net/en/disease/detail/404560
- Orphanet ORPHA:618: https://www.orpha.net/en/disease/detail/618
- NHS England National Genomic Test Directory, rare and inherited disease, version 9 (spreadsheet): https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-national-genomics-test-directory-v9.xlsx

## Connected records

- cancers: [Melanoma](https://onco.cc/cancers/melanoma/), [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/), [High-risk pancreatic surveillance (CAPS / PRECEDE)](https://onco.cc/technologies/pancreatic-surveillance/)
- targets: [CDKN2A](https://onco.cc/targets/cdkn2a/)
- terms: [Familial pancreatic cancer and inherited risk (who qualifies for surveillance)](https://onco.cc/terms/familial-pancreatic-cancer/), [Hereditary cancer syndromes](https://onco.cc/terms/hereditary-cancer-syndromes/)
- key papers: [Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium](https://onco.cc/key-papers/paper-caps-consortium-surveillance-recommendations-gut-2020/)
- drugs: [Color Hereditary Cancer Test](https://onco.cc/drugs/color-hereditary-cancer-test/), [MyRisk Hereditary Cancer (Myriad Genetics)](https://onco.cc/drugs/myriad-myrisk/)

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