Familial Cancer

, Volume 9, Issue 4, pp 531–536 | Cite as

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

  • Cristina Balia
  • Elisa Sensi
  • Grazia Lombardi
  • Manuela Roncella
  • Generoso Bevilacqua
  • Maria Adelaide Caligo
Article

Abstract

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.

Keywords

Breast cancer susceptibility BRCA1, BRCA2 PALB2 BRCA1/BRCA2 negative families Breast cancer risk 

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Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  • Cristina Balia
    • 1
  • Elisa Sensi
    • 2
  • Grazia Lombardi
    • 3
  • Manuela Roncella
    • 4
  • Generoso Bevilacqua
    • 5
  • Maria Adelaide Caligo
    • 1
  1. 1.Section of Genetic Oncology, Department of Laboratory MedicineUniversity of Pisa and Santa Chiara University HospitalPisaItaly
  2. 2.Section of Experimental Pathology, Department of SurgeryUniversity of Pisa and Santa Chiara University HospitalPisaItaly
  3. 3.Division of Cytogenetics and Molecular GeneticsSanta Chiara University HospitalPisaItaly
  4. 4.Division of Senology, Department of OncologySanta Chiara University HospitalPisaItaly
  5. 5.Division of Surgical, Molecular and Ultrastructural PathologyUniversity of Pisa and Pisa University HospitalPisaItaly

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