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...
Κύριοι συγγραφείς: | , , , , , , , , |
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Μορφή: | Άρθρο |
Γλώσσα: | English |
Έκδοση: |
BMC
2024-01-01
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Σειρά: | World Journal of Surgical Oncology |
Διαθέσιμο Online: | https://doi.org/10.1186/s12957-024-03309-5 |