Article
The germline MLH1 c.2054 C>T mutation disrupts DNA mismatch repair and is detectable by digital PCR.
Cancer letters - 28 Sept 2026
Moldenhauer Matthew R, Mahadevan Aditya, Hom Cameron, Nguyen Angie T M, Rangel Valeria, Hasson Sophie, Hsu Ning-Hsiang, Ubbaonu Chimezie, Nathan Deepika, Chandan Vishal S, Shen Kaiyuan V, Damozonio Ellianna M, Zhou Grace G, Chichili Tanvi, Le An, Masri Selma, Dayyani Farshid, Qiao Feng, Valerin Jennifer B, Pannunzio Nicholas R
Abstract excerpt
Lynch syndrome significantly increases the risk of developing colorectal cancer (CRC) due to an inherited defect in mismatch repair (MMR). Early detection relies on the identification of pathogenic mutations in patients with a family history of cancer, but few canonical Lynch mutations exist. Here, we describe four CRC patients found to carry an identical mutation in the MLH1 gene. Despite a strong family history...
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