PALB2: a novel inactivating mutation in a Italian breast cancer family

Fam Cancer. 2010 Dec;9(4):531-6. doi: 10.1007/s10689-010-9382-1.


Rare germline monoallelic mutations in PALB2 confer a relative risk of breast cancer of 2 to 4-times. To better define the role of PALB2 in breast cancer susceptibility in Italian breast or breast-ovarian cancer families we screened 95 index cases negative for BRCA1/BRCA2 germline mutations. The mutational analysis of the PALB2 gene in a index case of an high risk breast cancer family, has identified a frameshift mutation (c.1517delG) in the exon 4 that leads to the formation of a stop codon, 12 residues downstream of the mutation (Leu451X). The mutation was identified in a woman 52 year old with an infiltrating ductal breast carcinoma and in two of the three sisters without breast cancer. Our results confirmed that PALB2 could be a susceptibility gene for familial breast cancer also in Italian population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics
  • Fanconi Anemia Complementation Group N Protein
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Italy
  • Loss of Heterozygosity
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Nuclear Proteins / genetics*
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / pathology
  • Pedigree
  • Polymerase Chain Reaction
  • Prognosis
  • RNA, Messenger / genetics
  • Receptors, Estrogen / metabolism
  • Receptors, Progesterone / metabolism
  • Tumor Suppressor Proteins / genetics*


  • BRCA1 Protein
  • BRCA2 Protein
  • DNA, Neoplasm
  • Fanconi Anemia Complementation Group N Protein
  • Nuclear Proteins
  • PALB2 protein, human
  • RNA, Messenger
  • Receptors, Estrogen
  • Receptors, Progesterone
  • Tumor Suppressor Proteins