Journal
FAMILIAL CANCER
Volume 9, Issue 2, Pages 181-185Publisher
SPRINGER
DOI: 10.1007/s10689-009-9295-z
Keywords
Hereditary breast/ovarian cancer; PALB2; BRCA1; BRCA2; BRCA1/BRCA2-negative families
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Funding
- Regione Toscana
- Ente Cassa di Risparmio, Firenze, Italy
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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.
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