Author： Balia Cristina
Publisher： Springer Publishing Company
ISSN： 1389-9600
Source： Familial Cancer, Vol.9, Iss.4, 2010-12, pp. : 531-536
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Abstract
Rare germline monoallelic mutations in PALB2</i> 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</i> germline mutations. The mutational analysis of the PALB2</i> 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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