Article
A PALB2 germline mutation associated with hereditary breast cancer in Italy.
Familial cancer - 1 Jun 2010
Papi Laura, Putignano Anna Laura, Congregati Caterina, Piaceri Irene, Zanna Ines, Sera Francesco, Morrone Doralba, Genuardi Maurizio, Palli Domenico
Abstract excerpt
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...
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