PALB2 analysis in BRCA2-like families

Breast Cancer Res Treat. 2011 Jun;127(2):357-62. doi: 10.1007/s10549-010-1001-1. Epub 2010 Jun 26.


BRCA2 and PALB2 function together in the Fanconi anemia (FA)-Breast Cancer (BRCA) pathway. Mono-allelic and bi-allelic BRCA2 and PALB2 mutation carriers share many clinical characteristics. Mono-allelic germline mutations of BRCA2 and PALB2 are risk alleles of female breast cancer and have also been reported in familial pancreatic cancer, and bi-allelic mutations cause a severe form of Fanconi anemia. In view of these similarities, we investigated whether the prevalence of PALB2 mutations was increased in breast cancer families with the occurrence of BRCA2 associated tumours other than female breast cancer. PALB2 mutation analysis was performed in 110 non-BRCA1/2 cancer patients: (a) 53 ovarian cancer patients from female breast-and/or ovarian cancer families; (b) 45 breast cancer patients with a first or second degree relative with pancreatic cancer; and (c) 12 male breast cancer patients from female breast cancer families. One truncating PALB2 mutation, c.509_510delGA, resulting in p.Arg170X, was found in a male breast cancer patient. We conclude that germline mutations of PALB2 do not significantly contribute to cancer risk in non-BRCA1/2 cancer families with at least one patient with ovarian cancer, male breast cancer, and/or pancreatic cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Substitution
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics
  • Breast Neoplasms, Male / epidemiology
  • Breast Neoplasms, Male / genetics
  • Exons / genetics
  • Fanconi Anemia Complementation Group N Protein
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation / genetics
  • Humans
  • Male
  • Middle Aged
  • Neoplasms / genetics*
  • Nuclear Proteins / genetics*
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics
  • Pancreatic Neoplasms / epidemiology
  • Pancreatic Neoplasms / genetics
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Prevalence
  • Risk Factors
  • Tumor Suppressor Proteins / genetics*
  • Young Adult


  • BRCA2 Protein
  • BRCA2 protein, human
  • Fanconi Anemia Complementation Group N Protein
  • Nuclear Proteins
  • PALB2 protein, human
  • Tumor Suppressor Proteins