Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer

Xiaohong R. Yang, Lea Jessop, Timothy Myers, Laufey Amundadottir, Ruth M. Pfeiffer, William Wheeler, Kristen M. Pike, Jeff Yuenger, Laurie Burdett, Meredith Yeager, Stephen J. Chanock, Margaret A. Tucker, Alisa M. Goldstein

Research output: Contribution to journalArticle

Abstract

The presence of pancreatic cancer (PC) in melanoma-prone families has been consistently associated with an increased frequency of CDKN2A mutations, the major high-risk susceptibility gene identified for melanoma. However, the precise relationship between CDKN2A, melanoma and PC remains unknown. We evaluated a recently identified PC susceptibility gene PALB2 using both sequencing and tagging to determine whether PALB2 might explain part of the relationship between CDKN2A, melanoma, and PC. No disease-related mutations were identified from sequencing PALB2 in multiple pancreatic cancer patients or other mutation carrier relatives of PC patients from the eight melanoma-prone families with CDKN2A mutations and PC. In addition, no significant associations were observed between 11 PALB2 tagging SNPs and melanoma risk in 23 melanoma-prone families with CDKN2A mutations or the subset of 11 families with PC or PC-related CDKN2A mutations. The results suggested that PALB2 does not explain the relationship between CDKN2A, melanoma, and pancreatic cancer in these melanoma-prone families.

Original languageEnglish (US)
Pages (from-to)545-548
Number of pages4
JournalFamilial Cancer
Volume10
Issue number3
DOIs
Publication statusPublished - Sep 2011
Externally publishedYes

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Keywords

  • CDKN2A
  • Familial melanoma
  • Germline mutation
  • PALB2
  • Pancreatic cancer

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Oncology
  • Genetics(clinical)

Cite this

Yang, X. R., Jessop, L., Myers, T., Amundadottir, L., Pfeiffer, R. M., Wheeler, W., ... Goldstein, A. M. (2011). Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer. Familial Cancer, 10(3), 545-548. https://doi.org/10.1007/s10689-011-9447-9