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Hereditary Cancer in Clinical Practice
Published in: Hereditary Cancer in Clinical Practice 1/2009

Open Access 01-12-2009 | Letter to the Editor

Early-onset breast cancer in a Lebanese family with Lynch syndrome due to MSH2 gene mutation

Authors: Riad Akoum, Albert Ghaoui, Emile Brihi, Maroun Ghabash, Nicolas Hajjar

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2009

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Abstract

Background

There are still controversies about the integration of breast cancer as a part of the disease spectrum in Lynch syndrome.

Methods

A regular follow-up of a Lebanese pedigree with Lynch syndrome due to a point mutation of MSH2 gene at the splice donor site of intron 3 started in 1996.

Results

A 26-year-old pregnant woman, mutation carrier, developed an aggressive breast cancer, refractory to standard chemotherapy regimens. The microsatellite analysis of the tumor showed an unstable pattern for markers BAT25 and BAT26. The immunohistochemical staining was negative for MSH2 and MSH6 and normal for MLH1 and PMS6 enzymes.

Conclusion

The segregation of the mutation with the disease phenotype and these results suggest that MSH2 inactivation may be involved in the accelerated breast carcinogenesis and might be considered in the cancer screening program.
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Metadata
Title
Early-onset breast cancer in a Lebanese family with Lynch syndrome due to MSH2 gene mutation
Authors
Riad Akoum
Albert Ghaoui
Emile Brihi
Maroun Ghabash
Nicolas Hajjar
Publication date
01-12-2009
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2009
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-7-10

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