Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome
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 frequen...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-09-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00294-9 |
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| _version_ | 1832594919113359360 |
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| author | Nobue Takaiso Issei Imoto Toshihiko Matsumoto Akiyo Yoshimura |
| author_facet | Nobue Takaiso Issei Imoto Toshihiko Matsumoto Akiyo Yoshimura |
| author_sort | Nobue Takaiso |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9692b3475c954048ae15d43b3443f699 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-9692b3475c954048ae15d43b3443f6992025-01-19T12:15:35ZengNature Publishing GroupHuman Genome Variation2054-345X2024-09-011111310.1038/s41439-024-00294-9Novel MLH1 nonsense variant in a patient with suspected Lynch syndromeNobue Takaiso0Issei Imoto1Toshihiko Matsumoto2Akiyo Yoshimura3Risk Assessment Unit, Aichi Cancer Center HospitalRisk Assessment Unit, Aichi Cancer Center HospitalDepartment of Medical Oncology, Ichinomiyanishi HospitalRisk Assessment Unit, Aichi Cancer Center HospitalAbstract 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.https://doi.org/10.1038/s41439-024-00294-9 |
| spellingShingle | Nobue Takaiso Issei Imoto Toshihiko Matsumoto Akiyo Yoshimura Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome Human Genome Variation |
| title | Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome |
| title_full | Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome |
| title_fullStr | Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome |
| title_full_unstemmed | Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome |
| title_short | Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome |
| title_sort | novel mlh1 nonsense variant in a patient with suspected lynch syndrome |
| url | https://doi.org/10.1038/s41439-024-00294-9 |
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