title: A PALB2 germline mutation associated with hereditary breast cancer in Italy.
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.
authors.affiliation: Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Papi
authors.forename: Anna Laura
authors.initials: AL
authors.lastname: Putignano
authors.forename: Caterina
authors.initials: C
authors.lastname: Congregati
authors.forename: Irene
authors.initials: I
authors.lastname: Piaceri
authors.forename: Ines
authors.initials: I
authors.lastname: Zanna
authors.forename: Francesco
authors.initials: F
authors.lastname: Sera
authors.forename: Doralba
authors.initials: D
authors.lastname: Morrone
authors.forename: Maurizio
authors.initials: M
authors.lastname: Genuardi
authors.forename: Domenico
authors.initials: D
authors.lastname: Palli
mesh_terms: D017668:Age of Onset; D024682:BRCA2 Protein / Q000235:genetics; D014408:Biomarkers, Tumor; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D024682:BRCA2 Protein; D014408:Biomarkers, Tumor; D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins