| Autor: |
Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2054-345X |
| DOI: |
10.1038/s41439-024-00294-9 |
| Popis: |
Abstract Loss-of-function germline variants of MLH1 cause Lynch syndrome. Here, we present the case of a 43-year-old male patient diagnosed with cecal and transverse colon adenocarcinomas. The characteristics of the case met the revised Bethesda guidelines, and the tumors demonstrated a high frequency of microsatellite instability. Genetic testing for mismatch repair genes (indicative of Lynch syndrome) revealed a novel heterozygous germline pathogenic variant, NM_000249.4:c.856A>T/NP_000240.1:p.(Lys286Ter), in MLH1. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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