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- Publisher
- Springer Journals
- Copyright
- Copyright © 2010 by Springer Science+Business Media B.V.
- Subject
- Biomedicine; Biomedicine general; Epidemiology; Human Genetics ; Cancer Research
- ISSN
- 1389-9600
- eISSN
- 1573-7292
- DOI
- 10.1007/s10689-010-9382-1
- pmid
- 20852946
- Publisher site
- See Article on Publisher Site
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.
Journal
Familial Cancer – Springer Journals
Published: Sep 18, 2010