Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps
Aim. In this research, we aim to develop a criterion for differentiating MutYH-associated polyposis from sporadic colon polyps.Materials and methods. A search for mutations in the MutYH gene was carried out using the PCR, electrophoresis and direct sequencing methods among the following groups of pe...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Gastro LLC
2019-01-01
|
| Series: | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| Subjects: | |
| Online Access: | https://www.gastro-j.ru/jour/article/view/297 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1823860159138496512 |
|---|---|
| author | A. S. Tsukanov V. P. Shubin A. M. Kuzminov M. Kh. Toboeva T. A. Savelyeva V. N. Kashnikov Yu. A. Shelygin |
| author_facet | A. S. Tsukanov V. P. Shubin A. M. Kuzminov M. Kh. Toboeva T. A. Savelyeva V. N. Kashnikov Yu. A. Shelygin |
| author_sort | A. S. Tsukanov |
| collection | DOAJ |
| description | Aim. In this research, we aim to develop a criterion for differentiating MutYH-associated polyposis from sporadic colon polyps.Materials and methods. A search for mutations in the MutYH gene was carried out using the PCR, electrophoresis and direct sequencing methods among the following groups of people: 18 patients under 45 years old with more than 100 polyps diagnosed in the large intestine; 86 patients over 45 years old with 4–100 polyps; 150 people of the control group.Results. Mutations in the MutYH gene were detected in 2 out of 18 patients having more than 100 polyps. Among 86 patients with 4–100 polyps, mutations were found in 10 people having more than 20 polyps. Mutations in the MutYH gene were not detected in patients with 4–19 polyps (p <0.05). The pathogenic significance of the disease development was established not only for biallelic, but also for monoallelic mutations.Conclusion. For the first time, the lower limit of the polyp number has been established, allowing the MutYH-associated polyposis to be differentiated from sporadic polyps. |
| format | Article |
| id | doaj-art-c8232751b7824c77ab0a4b2fc8ea7eca |
| institution | Kabale University |
| issn | 1382-4376 2658-6673 |
| language | Russian |
| publishDate | 2019-01-01 |
| publisher | Gastro LLC |
| record_format | Article |
| series | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| spelling | doaj-art-c8232751b7824c77ab0a4b2fc8ea7eca2025-02-10T16:14:35ZrusGastro LLCРоссийский журнал гастроэнтерологии, гепатологии, колопроктологии1382-43762658-66732019-01-01286515710.22416/1382-4376-2018-28-6-51-57275Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon PolypsA. S. Tsukanov0V. P. Shubin1A. M. Kuzminov2M. Kh. Toboeva3T. A. Savelyeva4V. N. Kashnikov5Yu. A. Shelygin6A.N. Ryzhykh State Scientific Centre for Coloproctology.A.N. Ryzhykh State Scientific Centre for Coloproctology.A.N. Ryzhykh State Scientific Centre for Coloproctology.A.N. Ryzhykh State Scientific Centre for Coloproctology.A.N. Ryzhykh State Scientific Centre for Coloproctology.A.N. Ryzhykh State Scientific Centre for Coloproctology.A.N. Ryzhykh State Scientific Centre for Coloproctology.Aim. In this research, we aim to develop a criterion for differentiating MutYH-associated polyposis from sporadic colon polyps.Materials and methods. A search for mutations in the MutYH gene was carried out using the PCR, electrophoresis and direct sequencing methods among the following groups of people: 18 patients under 45 years old with more than 100 polyps diagnosed in the large intestine; 86 patients over 45 years old with 4–100 polyps; 150 people of the control group.Results. Mutations in the MutYH gene were detected in 2 out of 18 patients having more than 100 polyps. Among 86 patients with 4–100 polyps, mutations were found in 10 people having more than 20 polyps. Mutations in the MutYH gene were not detected in patients with 4–19 polyps (p <0.05). The pathogenic significance of the disease development was established not only for biallelic, but also for monoallelic mutations.Conclusion. For the first time, the lower limit of the polyp number has been established, allowing the MutYH-associated polyposis to be differentiated from sporadic polyps.https://www.gastro-j.ru/jour/article/view/297mutyh-associated polyposisfamilial adenomatous polyposis of the large bowelhereditary mutationscolorectal cancer |
| spellingShingle | A. S. Tsukanov V. P. Shubin A. M. Kuzminov M. Kh. Toboeva T. A. Savelyeva V. N. Kashnikov Yu. A. Shelygin Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps Российский журнал гастроэнтерологии, гепатологии, колопроктологии mutyh-associated polyposis familial adenomatous polyposis of the large bowel hereditary mutations colorectal cancer |
| title | Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps |
| title_full | Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps |
| title_fullStr | Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps |
| title_full_unstemmed | Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps |
| title_short | Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps |
| title_sort | differential diagnosis of mutyh associated polyposis from sporadic colon polyps |
| topic | mutyh-associated polyposis familial adenomatous polyposis of the large bowel hereditary mutations colorectal cancer |
| url | https://www.gastro-j.ru/jour/article/view/297 |
| work_keys_str_mv | AT astsukanov differentialdiagnosisofmutyhassociatedpolyposisfromsporadiccolonpolyps AT vpshubin differentialdiagnosisofmutyhassociatedpolyposisfromsporadiccolonpolyps AT amkuzminov differentialdiagnosisofmutyhassociatedpolyposisfromsporadiccolonpolyps AT mkhtoboeva differentialdiagnosisofmutyhassociatedpolyposisfromsporadiccolonpolyps AT tasavelyeva differentialdiagnosisofmutyhassociatedpolyposisfromsporadiccolonpolyps AT vnkashnikov differentialdiagnosisofmutyhassociatedpolyposisfromsporadiccolonpolyps AT yuashelygin differentialdiagnosisofmutyhassociatedpolyposisfromsporadiccolonpolyps |