Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

Abstract Background Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2. In this study, we analyzed the molecular defects and clinical manifes...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Juyi Li, Haichun Ni, Xiufang Wang, Wenzhuo Cheng, Li Li, Yong Cheng, Chao Liu, Yuanyuan Li, Aiping Deng
Μορφή: Άρθρο
Γλώσσα:English
Έκδοση: BMC 2024-01-01
Σειρά:World Journal of Surgical Oncology
Διαθέσιμο Online:https://doi.org/10.1186/s12957-024-03309-5