| #606719 | |||||||||||||||
| MELANOMA-PANCREATIC CANCER SYNDROME | |||||||||||||||
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| FAMILIAL ATYPICAL MULTIPLE MOLE MELANOMA-PANCREATIC CARCINOMA SYNDROME; FAMMMPC | |||||||||||||||
| Phenotype Gene Relationships | |||||||||||||||
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| Clinical Synopsis | |||||||||||||||
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| A number sign (#) is used with this entry because familial atypical multiple mole melanoma-pancreatic carcinoma (FAMMPC) syndrome can be caused by mutations in the gene encoding cyclin-dependent kinase inhibitor-2A (CDKN2A; 600160). For background and phenotypic information on malignant melanoma and pancreatic cancer, see 155600 and 260350, respectively. Whelan et al. (1995) described a kindred with an increased risk of pancreatic cancers, melanomas, and possibly additional types of tumors cosegregating with the CDKN2A gly93-to-trp mutation (600160.0005). Of interest was the occurrence of squamous-cell carcinomas in this family, a rare form, and squamous cell carcinoma of the tongue in the proband. Goldstein et al. (1995) also showed that pancreatic carcinoma was found within melanoma families in individuals carrying CDKN2A mutations. Schutte et al. (1997) showed that almost all pancreatic carcinomas have inactivation of the CDKN2A gene. Vasen et al. (2000) performed mutation analysis on 27 families with FAMMM syndrome and identified the CDKN2A-Leiden mutation (600160.0005) in 19 families. They identified 86 patients with melanoma, and the second most frequent cancer was pancreatic carcinoma, which was observed in 15 patients from 7 families. The mean age at diagnosis of pancreatic carcinoma was 58 years, with a range from 38 to 77 years. Putative mutation carriers had an estimated cumulative risk of 17% for developing pancreatic carcinoma by age 75 years. In the 8 CDKN2A-Leiden-negative families, no cases of pancreatic carcinoma had occurred. The authors concluded that individuals with the CDKN2A-Leiden mutation show an enormous risk of developing pancreatic cancer. Lynch et al. (2002) described 8 families with what they termed the FAMMMPC syndrome who had mutations in the CDKN2A gene. They stated that the Creighton University registry of familial pancreatic cancer had 159 families, of which 19 (12%) showed the FAMMM cutaneous phenotype. | |||||||||||||||
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