Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients
Aim of investigation. Lynch's syndrome is hereditary syndrome caused by germline mutation in one of reparation genes not coupled bases and causing high risk of colorectal cancer development. At present there are no criteria, allowing to reveal all mutation carriers, and development of new guide...
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Gastro LLC
2014-08-01
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| Series: | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
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| Online Access: | https://www.gastro-j.ru/jour/article/view/1106 |
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| author | A. S. Tsukanov N. I. Pospehova V. P. Shubin I. Yu. Sachkov S. N. Zhdankina A. A. Ponomarenko E. G. Rybakov S. I. Achkasov V. N. Kashnikov S. A. Frolov Yu. A. Shelygin |
| author_facet | A. S. Tsukanov N. I. Pospehova V. P. Shubin I. Yu. Sachkov S. N. Zhdankina A. A. Ponomarenko E. G. Rybakov S. I. Achkasov V. N. Kashnikov S. A. Frolov Yu. A. Shelygin |
| author_sort | A. S. Tsukanov |
| collection | DOAJ |
| description | Aim of investigation. Lynch's syndrome is hereditary syndrome caused by germline mutation in one of reparation genes not coupled bases and causing high risk of colorectal cancer development. At present there are no criteria, allowing to reveal all mutation carriers, and development of new guidelines is still going on, that became a task for original study. Material and methods. Search of microsatellite instability (MSI), characteristic for Lynch's syndrome, was carried out in tumor samples of 73 patients by fragment analysis method. At its detection search of germline mutations by polymerase chain reaction methods, electrophoresis and direct sequencing was carried out.Results. Microsatellite instability was found out in 17 neoplastic samples (23%, 17 of 73). At 9 person germline mutations that has allowed to attribute this group to patients to Lynch's syndrome were revealed. Three of 9 mutations were described for the first time in the world.Conclusions. According to neoplastic MSI, age and family history two new criteria for Lynch's syndrome search in the Russian patients have been offered. Efficacy of the first criterion was 60%, that of the second — 85,7%. |
| format | Article |
| id | doaj-art-22b0d5e3503f48d9a044f670eb2c25e8 |
| institution | Kabale University |
| issn | 1382-4376 2658-6673 |
| language | Russian |
| publishDate | 2014-08-01 |
| publisher | Gastro LLC |
| record_format | Article |
| series | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| spelling | doaj-art-22b0d5e3503f48d9a044f670eb2c25e82025-02-10T16:14:33ZrusGastro LLCРоссийский журнал гастроэнтерологии, гепатологии, колопроктологии1382-43762658-66732014-08-012427884707Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patientsA. S. Tsukanov0N. I. Pospehova1V. P. Shubin2I. Yu. Sachkov3S. N. Zhdankina4A. A. Ponomarenko5E. G. Rybakov6S. I. Achkasov7V. N. Kashnikov8S. A. Frolov9Yu. A. Shelygin10Federal state-funded institution «State Scientific Center of Coloproctology»Federal state-funded institution «State Scientific Center of Coloproctology»Federal state-funded institution «State Scientific Center of Coloproctology»Federal state-funded institution «State Scientific Center of Coloproctology»Federal state-funded institution «State Scientific Center of Coloproctology»Federal state-funded institution «State Scientific Center of Coloproctology»Federal state-funded institution «State Scientific Center of Coloproctology»Федеральное государственное бюджетное учреждение «Государственный научный центр колопроктологии» Минздрава РФFederal state-funded institution «State Scientific Center of Coloproctology»Federal state-funded institution «State Scientific Center of Coloproctology»Federal state-funded institution «State Scientific Center of Coloproctology»Aim of investigation. Lynch's syndrome is hereditary syndrome caused by germline mutation in one of reparation genes not coupled bases and causing high risk of colorectal cancer development. At present there are no criteria, allowing to reveal all mutation carriers, and development of new guidelines is still going on, that became a task for original study. Material and methods. Search of microsatellite instability (MSI), characteristic for Lynch's syndrome, was carried out in tumor samples of 73 patients by fragment analysis method. At its detection search of germline mutations by polymerase chain reaction methods, electrophoresis and direct sequencing was carried out.Results. Microsatellite instability was found out in 17 neoplastic samples (23%, 17 of 73). At 9 person germline mutations that has allowed to attribute this group to patients to Lynch's syndrome were revealed. Three of 9 mutations were described for the first time in the world.Conclusions. According to neoplastic MSI, age and family history two new criteria for Lynch's syndrome search in the Russian patients have been offered. Efficacy of the first criterion was 60%, that of the second — 85,7%.https://www.gastro-j.ru/jour/article/view/1106lynch's syndromecolorectal cancermicrosatellite instabilitygenes mmrgermline mutations |
| spellingShingle | A. S. Tsukanov N. I. Pospehova V. P. Shubin I. Yu. Sachkov S. N. Zhdankina A. A. Ponomarenko E. G. Rybakov S. I. Achkasov V. N. Kashnikov S. A. Frolov Yu. A. Shelygin Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients Российский журнал гастроэнтерологии, гепатологии, колопроктологии lynch's syndrome colorectal cancer microsatellite instability genes mmr germline mutations |
| title | Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients |
| title_full | Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients |
| title_fullStr | Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients |
| title_full_unstemmed | Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients |
| title_short | Differentiation of Lynch syndrome from other forms of non-polyposis colorectal cancer among Russian patients |
| title_sort | differentiation of lynch syndrome from other forms of non polyposis colorectal cancer among russian patients |
| topic | lynch's syndrome colorectal cancer microsatellite instability genes mmr germline mutations |
| url | https://www.gastro-j.ru/jour/article/view/1106 |
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