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Review

Familial Atypical Multiple Mole Melanoma Syndrome

Dara Eckerle Mize  1 , Michele Bishop  2 , Erin Resse  3 , Jason Sluzevich  4
Douglas L Riegert-Johnson  1 , Lisa A Boardman  2 , Timothy Hefferon  3 , Maegan Roberts  4
, editors.
In: Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2009.
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Review

Familial Atypical Multiple Mole Melanoma Syndrome

Dara Eckerle Mize et al.
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Excerpt

Familial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant genodermatosis characterized by multiple melanocytic nevi, usually more than 50, and a family history of melanoma (Figure 1 and Figure 2). It is associated with mutations in the CDKN2A gene and shows reduced penetrance and variable expressivity. Some FAMMM kindreds show an increased risk for the development of pancreatic cancer and possibly other malignancies (1-6).

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References

    1. Bartsch D.K. et al. CDKN2A germline mutations in familial pancreatic cancer. . Ann Surg. 2002;236(6):730–7. - PMC - PubMed
    1. Bergman W. et al. Systemic cancer and the FAMMM syndrome. . Br J Cancer. 1990;61(6):932–6. - PMC - PubMed
    1. Borg A. et al. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. . J Natl Cancer Inst. 2000;92(15):1260–6. - PubMed
    1. Lynch H.T. et al. Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. . Cancer. 2002;94(1):84–96. - PubMed
    1. Lynch H.T. et al. Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis. . J Med Genet. 1983;20(5):342–4. - PMC - PubMed

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