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Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers

Ramunas Janavicius1 and Pavel Elsakov2*

Author Affiliations

1 Department of Molecular and Regenerative Medicine; Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, Vilnius LT-08661, Lithuania

2 Institute of Oncology Vilnius university, Santariskiu st. 1, Vilnius LT-08660, Lithuania

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Hereditary Cancer in Clinical Practice 2012, 10:1  doi:10.1186/1897-4287-10-1

Published: 10 January 2012


Lynch syndrome (LS) individuals are predisposed to a variety of cancers, most commonly colorectal, uterine, urinary tract, ovarian, small bowel, stomach and biliary tract cancers. The risk of extracolonic manifestations appears to be highest in MSH2 mutations carriers.

We present a carrier case with a novel MSH2 gene mutation that clearly demonstrates the broad extent of LS phenotypic expression and highlights several important clinical aspects. Current evidence suggests that colorectal tumors from LS patients tend to have better prognoses than their sporadic counterparts, however survival benefits for other cancers encountered in LS are unclear.

In this article we describe a family with a novel protein truncating mutation of c.2388delT in the MSH2 gene, particularly focusing on one individual carrier affected with multiple primary cancers who is surviving 25 years on. Our report of multiple primary tumors occurring in the 12-25 years interval might suggest these patients do not succumb to other extracolonic cancers, provided they are regularly followed-up.

Lynch syndrome; MSH2 mutation; increased survival; multiple cancers; HNPCC