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

Fam Cancer. 2011 Sep;10(3):545-8. doi: 10.1007/s10689-011-9447-9.

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.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Case-Control Studies
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics*
  • DNA / genetics
  • Family
  • Fanconi Anemia Complementation Group N Protein
  • Female
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation / genetics*
  • Humans
  • Male
  • Melanoma / complications
  • Melanoma / genetics*
  • Nuclear Proteins / genetics*
  • Pancreatic Neoplasms / etiology*
  • Polymerase Chain Reaction
  • Prognosis
  • Skin Neoplasms / complications
  • Skin Neoplasms / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

  • Cyclin-Dependent Kinase Inhibitor p16
  • Fanconi Anemia Complementation Group N Protein
  • Nuclear Proteins
  • PALB2 protein, human
  • Tumor Suppressor Proteins
  • DNA