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Published in:

01-12-2010

PALB2: a novel inactivating mutation in a Italian breast cancer family

Authors: Cristina Balia, Elisa Sensi, Grazia Lombardi, Manuela Roncella, Generoso Bevilacqua, Maria Adelaide Caligo

Published in: Familial Cancer | Issue 4/2010

Abstract

Rare germline monoallelic mutations in PALB2 confer a relative risk of breast cancer of 2 to 4-times. To better define the role of PALB2 in breast cancer susceptibility in Italian breast or breast–ovarian cancer families we screened 95 index cases negative for BRCA1/BRCA2 germline mutations. The mutational analysis of the PALB2 gene in a index case of an high risk breast cancer family, has identified a frameshift mutation (c.1517delG) in the exon 4 that leads to the formation of a stop codon, 12 residues downstream of the mutation (Leu451X). The mutation was identified in a woman 52 year old with an infiltrating ductal breast carcinoma and in two of the three sisters without breast cancer. Our results confirmed that PALB2 could be a susceptibility gene for familial breast cancer also in Italian population.

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Title: PALB2: a novel inactivating mutation in a Italian breast cancer family
Authors: Cristina Balia
Elisa Sensi
Grazia Lombardi
Manuela Roncella
Generoso Bevilacqua
Maria Adelaide Caligo
Publication date: 01-12-2010
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 4/2010
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-010-9382-1

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