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

  1. Stephen J. Rulyak M.D., M.P.H.1,
  2. Teresa A. Brentnall M.D.1,
  3. Henry T. Lynch M.D.2,
  4. Melissa A. Austin Ph.D.3,†,*

Article first published online: 13 JUN 2003

DOI: 10.1002/cncr.11562

Issue

Cancer

Cancer

Volume 98, Issue 4, pages 798–804, 15 August 2003

Additional Information

How to Cite

Rulyak, S. J., Brentnall, T. A., Lynch, H. T. and Austin, M. A. (2003), Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma–pancreatic carcinoma syndrome. Cancer, 98: 798–804. doi: 10.1002/cncr.11562

Author Information

  1. 1

    Division of Gastroenterology, University of Washington, Seattle, Washington

  2. 2

    Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska

  3. 3

    Department of Epidemiology and Institute for Public Health Genetics, University of Washington, Seattle, Washington

  1. †

    Fax: (206) 685-9651

*F 363 Health Sciences Building, Box 357236, School of Public Health and Community Medicine, University of Washington, 1959 NE Pacific Avenue, Seattle, WA 98195

Publication History

  1. Issue published online: 1 AUG 2003
  2. Article first published online: 13 JUN 2003
  3. Manuscript Revised: 7 MAY 2003
  4. Manuscript Accepted: 7 MAY 2003
  5. Manuscript Received: 13 DEC 2002

Funded by

  • National Institutes of Health. Grant Number: DK07742
  • University Initiatives Fund of the University of Washington
  • National Cancer Institute. Grant Number: U24 CA78164

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Keywords:

  • pancreatic carcinoma;
  • familial atypical multiple-mole melanoma syndrome (FAMMM);
  • dysplastic nevus;
  • genes;
  • CDKN2A;
  • p16;
  • phenotype;
  • segregation analysis

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. Cancer 2003;98:798–804. © 2003 American Cancer Society.

DOI 10.1002/cncr.11562

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