Jul 2026
A Lynch syndrome patient with multiple cancers who was found to have a novel pathogenic variant generating aberrant splicing of MLH1.
A woman who developed colorectal, gastric, and endometrial cancers and was found to have a rare missense variant, MLH1:c.545G > T in exon 6 of MLH1, which is reclassified as likely pathogenic.
Ayumi Abe, H. Eguchi, Kimio Matsumura et al.
· Japanese Journal of Clinical... · 0 citations