WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.

WGS for germline MMR variant identification in Thai high-risk patients — identification of MSH2 founder variant

WGS applied to 132 Lynch syndrome-suspected probands in Southern Thailand identified germline MMR variants in 26 individuals (20%). A recurrent MSH2 c.1237C>T founder variant was detected in 10 probands with shared ancestry. Cascade testing of 56 relatives identified 15 additional carriers, 4 of whom had already developed colorectal or ampullary cancer. Benefit-cost analysis demonstrated the superiority of genetic testing over endoscopic surveillance alone for at-risk relatives.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

This article illustrates the value of cascade screening in populations where Lynch syndrome founder variants remain undercharacterized. Identifying an MSH2 founder variant in a specific geographic region enables efficient targeted screening — a model applicable to other understudied Asian populations. The favorable cost-benefit ratio further supports the economic case for genetic testing over endoscopic surveillance.

Clinical impact : 2/3 · Evidence strength : 2/3 · Novelty : 2/2 · Sample size : 1/1 · Journal quality : 0/1 → Total : 7/10