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BMC Cancer
Published in: BMC Cancer 1/2014

Open Access 01-12-2014 | Case report

First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

Authors: Gianluca Tedaldi, Rita Danesi, Valentina Zampiga, Michela Tebaldi, Lucia Bedei, Wainer Zoli, Dino Amadori, Fabio Falcini, Daniele Calistri

Published in: BMC Cancer | Issue 1/2014

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Abstract

Background

CHEK2 is a multi-cancer susceptibility gene whose common germline mutations are known to contribute to the risk of developing breast and prostate cancer.

Case presentation

Here, we describe an Italian family with a high number of cases of breast cancer and other types of tumour subjected to the MLPA test to verify the presence of BRCA1, BRCA2 and CHEK2 deletions and duplications. We identified a new 23-kb duplication in the CHEK2 gene extending from intron 5 to 13 that was associated with breast cancer in the family. The presence and localisation of the alteration was confirmed by a second analysis by Next-Generation Sequencing.

Conclusions

This finding suggests that CHEK2 mutations are heterogeneous and that techniques other than sequencing, such as MLPA, are needed to identify CHEK2 mutations. It also indicates that CHEK2 rare variants, such as duplications, can confer a high susceptibility to cancer development and should thus be studied in depth as most of our knowledge of CHEK2 concerns common mutations.
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Metadata
Title
First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer
Authors
Gianluca Tedaldi
Rita Danesi
Valentina Zampiga
Michela Tebaldi
Lucia Bedei
Wainer Zoli
Dino Amadori
Fabio Falcini
Daniele Calistri
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2014
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/1471-2407-14-478

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