A PALB2 germline mutation associated with hereditary breast cancer in Italy

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

41 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)181-185
Numero di pagine5
RivistaFamilial Cancer
Volume9
DOI
Stato di pubblicazionePubblicato - 2010

Keywords

  • BRCA1/BRCA2
  • BRCA2
  • FAMILIES
  • FANCONI-ANEMIA
  • PREVALENCE
  • SUSCEPTIBILITY GENES
  • WOMEN

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