The journal of obstetrics and gynaecology researchHumansFemaleColorectal NeoplasmsHereditary NonpolyposisMiddle Aged
Rare Intronic Variants Altering Splicing Cause Lynch Syndrome: Two Case Reports.
Yumi Takimoto, Hiroshi Tsubamoto, Tomokazu Wakatsuki, Riyo Yoshii, Gou Yamamoto, Hideaki Sawai, Ikuo Matsuda, Naohiro Tomita, Seiji Mabuchi, Kiwamu Akagi
Published: 202510.1111/jog.70117
Abstract
Lynch syndrome (LS) is an autosomal-dominant hereditary cancer syndrome caused by defective mismatch repair (MMR) genes. This report presents two cases of LS with rare intronic variants in MLH1 and MSH2 that affect splicing, leading to diagnostic cha…
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