Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome

Stephen J. Rulyak, Teresa A. Brentnall, Henry T. Lynch, Melissa A. Austin

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

BACKGROUND. Previous studies suggest that the familial atypical multiple-mole melanoma (FAMMM) syndrome may predispose affected families to nonmelanoma carcinomas, including adenocarcinoma of the pancreas. It has been found that many of these families harbor mutations in the CDKN2A gene on chromosome 9p21. The phenotypic expression of CDKN2A mutations in these families has not been characterized fully. METHODS. The authors studied eight families that appeared to inherit multiple nevi, cutaneous melanomas, and pancreatic carcinomas in association with a CDKN2A germline mutation. The expression of disease within these families was examined, and segregation ratios were estimated to assess the patterns of inheritance according to various definitions of phenotype. RESULTS. Either multiple nevi or pancreatic carcinoma was diagnosed in 53% of first-degree relatives of the probands. The offspring of parents affected with multiple nevi, melanoma, or pancreatic carcinoma were significantly more likely to be affected themselves compared with the offspring of unaffected parents (48.9% vs. 16.7%; P = 0.004). CONCLUSIONS. The current results provide additional evidence that multiple nevi, melanoma, or pancreatic carcinoma may be inherited as autosomal-dominant traits in families known to harbor CDKN2A mutations. Other malignancies may be a part of the phenotype in these families, although this hypothesis requires additional study.

Original languageEnglish
Pages (from-to)798-804
Number of pages7
JournalCancer
Volume98
Issue number4
DOIs
StatePublished - Aug 15 2003

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Nevi and Melanomas
Phenotype
Mutation
Dysplastic Nevus Syndrome
p16 Genes
Inheritance Patterns
Germ-Line Mutation
Nevus
Pancreas
Adenocarcinoma
Chromosomes
Carcinoma
Skin
Pancreatic Carcinoma
Melanoma-Pancreatic Cancer Syndrome
Neoplasms

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. / Rulyak, Stephen J.; Brentnall, Teresa A.; Lynch, Henry T.; Austin, Melissa A.

In: Cancer, Vol. 98, No. 4, 15.08.2003, p. 798-804.

Research output: Contribution to journalArticle

Rulyak, Stephen J. ; Brentnall, Teresa A. ; Lynch, Henry T. ; Austin, Melissa A. / Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. In: Cancer. 2003 ; Vol. 98, No. 4. pp. 798-804.
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AB - BACKGROUND. Previous studies suggest that the familial atypical multiple-mole melanoma (FAMMM) syndrome may predispose affected families to nonmelanoma carcinomas, including adenocarcinoma of the pancreas. It has been found that many of these families harbor mutations in the CDKN2A gene on chromosome 9p21. The phenotypic expression of CDKN2A mutations in these families has not been characterized fully. METHODS. The authors studied eight families that appeared to inherit multiple nevi, cutaneous melanomas, and pancreatic carcinomas in association with a CDKN2A germline mutation. The expression of disease within these families was examined, and segregation ratios were estimated to assess the patterns of inheritance according to various definitions of phenotype. RESULTS. Either multiple nevi or pancreatic carcinoma was diagnosed in 53% of first-degree relatives of the probands. The offspring of parents affected with multiple nevi, melanoma, or pancreatic carcinoma were significantly more likely to be affected themselves compared with the offspring of unaffected parents (48.9% vs. 16.7%; P = 0.004). CONCLUSIONS. The current results provide additional evidence that multiple nevi, melanoma, or pancreatic carcinoma may be inherited as autosomal-dominant traits in families known to harbor CDKN2A mutations. Other malignancies may be a part of the phenotype in these families, although this hypothesis requires additional study.

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