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01.06.2010

A PALB2 germline mutation associated with hereditary breast cancer in Italy

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

Erschienen in: Familial Cancer | Ausgabe 2/2010

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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.

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Titel: A PALB2 germline mutation associated with hereditary breast cancer in Italy
verfasst von: Laura Papi
Anna Laura Putignano
Caterina Congregati
Irene Piaceri
Ines Zanna
Francesco Sera
Doralba Morrone
Maurizio Genuardi
Domenico Palli
Publikationsdatum: 01.06.2010
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 2/2010
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-009-9295-z

Springer Medizin

A PALB2 germline mutation associated with hereditary breast cancer in Italy

Abstract

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Abstract

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