Letter to the Editor

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

Riad Akoum¹ , Albert Ghaoui² , Emile Brihi¹ , Maroun Ghabash² and Nicolas Hajjar¹

¹  Department of Oncology, Rizk Hospital, Beirut, Lebanon

²  Department of Medicine, Notre Dame du Rosaire Hospital, Beirut, Lebanon

author email corresponding author email

Hereditary Cancer in Clinical Practice 2009, 7:10doi:10.1186/1897-4287-7-10

Published:	28 May 2009

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.