Abstract
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.
Highlights
Lynch syndrome (LS), or hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, is genetically heterogeneous autosomal dominant disease, caused by mutations in one of at least four mismatch repair (MMR) genes, most frequently MLH1 or MSH2, which account for about 50% and 40% of cases respectively [1]
In this article we describe a family with the novel protein truncating mutation of c.2388delT in the MSH2 gene, focusing on one individual carrier affected with multiple primary cancers who is surviving 25 years on
Our presented carrier case with a novel MSH2 gene mutation clearly demonstrates the broad extent of LS phenotypic expression and highlights several important clinical aspects
Summary
Lynch syndrome (LS), or hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, is genetically heterogeneous autosomal dominant disease, caused by mutations in one of at least four mismatch repair (MMR) genes, most frequently MLH1 or MSH2, which account for about 50% and 40% of cases respectively [1]. The risk of colon cancer appears to be greater in carriers of MLH1 vs other MMR genes, but the overall risk of all cancers (colonic and extracolonic) combined appears with MSH2 mutations [4]. In this article we describe a family with the novel protein truncating mutation of c.2388delT in the MSH2 gene, focusing on one individual carrier affected with multiple primary cancers who is surviving 25 years on.
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