Familial Cancer

, Volume 9, Issue 2, pp 181–185 | Cite as

A PALB2 germline mutation associated with hereditary breast cancer in Italy

  • Laura Papi
  • Anna Laura Putignano
  • Caterina Congregati
  • Irene Piaceri
  • Ines Zanna
  • Francesco Sera
  • Doralba Morrone
  • Maurizio Genuardi
  • Domenico Palli
Article

Abstract

Recently, it has been demonstrated that monoallelic PALB2 mutations predispose to familial breast cancer. We investigated the contribution of PALB2 mutations in a set of 132 Italian BRCA1/BRCA2–negative breast cancer families; one truncating PALB2 mutation, c.2257C>T, resulting in p.Arg753X, was identified in a woman and her daughter, with breast cancer diagnosed at 60 and 31 years old, respectively. This study supports the recent observation that PALB2 mutation are present, although infrequently, in familial BRCA1/BRCA2-negative breast cancer cases; moreover, it sustains latest evidences that some PALB2 mutations are associated with a substantially increased risk of breast cancer.

Keywords

Hereditary breast/ovarian cancer PALB2 BRCA1 BRCA2 BRCA1/BRCA2-negative families 

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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Laura Papi
    • 1
  • Anna Laura Putignano
    • 1
  • Caterina Congregati
    • 1
  • Irene Piaceri
    • 1
  • Ines Zanna
    • 2
  • Francesco Sera
    • 2
  • Doralba Morrone
    • 3
  • Maurizio Genuardi
    • 1
    • 4
  • Domenico Palli
    • 2
  1. 1.Medical Genetics Unit, Department of Clinical PhysiopathologyUniversity of FlorenceFlorenceItaly
  2. 2.Molecular and Nutritional Epidemiology UnitCancer Research and Prevention Institute (ISPO)FlorenceItaly
  3. 3.Senology UnitCancer Research and Prevention Institute (ISPO)FlorenceItaly
  4. 4.Fiorgen Foundation for PharmacogenomicsSesto FiorentinoItaly

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