Clinical, anamnestic, molecular and genetic criteria for Lynch syndrome
Lynch syndrome is the most common cancer-prone syndrome associated with a high risk of colorectal cancer (CRC), neoplasms of the upper gastrointestinal system, the urinary tract, the female reproductive system, brain tumours and others. The only known form of hereditary endometrial cancer is also di...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2019-12-01
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| Series: | Успехи молекулярной онкологии |
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| Online Access: | https://umo.abvpress.ru/jour/article/view/240 |
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| author | A. V. Semyanikhina N. I. Pospekhova M. G. Filippova D. A. Golovina A. O. Rasulov L. N. Lyubchenko |
| author_facet | A. V. Semyanikhina N. I. Pospekhova M. G. Filippova D. A. Golovina A. O. Rasulov L. N. Lyubchenko |
| author_sort | A. V. Semyanikhina |
| collection | DOAJ |
| description | Lynch syndrome is the most common cancer-prone syndrome associated with a high risk of colorectal cancer (CRC), neoplasms of the upper gastrointestinal system, the urinary tract, the female reproductive system, brain tumours and others. The only known form of hereditary endometrial cancer is also diagnosed as part of Lynch syndrome. One or more pathogenic germline mutations in one of the mismatch repair (MMR) genes are the cause of Lynch syndrome. Mapping of MMR genes and the discovery of microsatellite instability (MSI) have given rise to the possibility of using these clue characteristics of the pathogenic process for the elaboration of a screening test for Lynch syndrome. Being highly accurate and superior to all previously developed clinical criteria and guidelines, MSI-testing along with the assessment of the expression patterns of MMR proteins by immunohistochemistry has taken the leading role in the early diagnosis of Lynch syndrome. This article focuses on a brief review about the main evolutionary stages of clinical, anamnestic, molecular and genetic criteria for Lynch syndrome together with the results of our own research on the accuracy of the Amsterdam criteria, the Bethesda guidelines and MSI-diagnostics in the determination of the indications for MMR-genotyping in colorectal cancer patients suspected for Lynch syndrome. |
| format | Article |
| id | doaj-art-8017a5f744ae4a088ece4fdc09f16f17 |
| institution | DOAJ |
| issn | 2313-805X 2413-3787 |
| language | Russian |
| publishDate | 2019-12-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Успехи молекулярной онкологии |
| spelling | doaj-art-8017a5f744ae4a088ece4fdc09f16f172025-08-20T03:00:55ZrusABV-pressУспехи молекулярной онкологии2313-805X2413-37872019-12-0164384610.17650/2313-805X-2019-6-4-38-46172Clinical, anamnestic, molecular and genetic criteria for Lynch syndromeA. V. Semyanikhina0N. I. Pospekhova1M. G. Filippova2D. A. Golovina3A. O. Rasulov4L. N. Lyubchenko5N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of RussiaN.A. Lopatkin Research Institute of Urology and Interventional Radiology – branch of National Medical Research Radiological Center, Ministry of Health of the RussiaN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia; I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of RussiaLynch syndrome is the most common cancer-prone syndrome associated with a high risk of colorectal cancer (CRC), neoplasms of the upper gastrointestinal system, the urinary tract, the female reproductive system, brain tumours and others. The only known form of hereditary endometrial cancer is also diagnosed as part of Lynch syndrome. One or more pathogenic germline mutations in one of the mismatch repair (MMR) genes are the cause of Lynch syndrome. Mapping of MMR genes and the discovery of microsatellite instability (MSI) have given rise to the possibility of using these clue characteristics of the pathogenic process for the elaboration of a screening test for Lynch syndrome. Being highly accurate and superior to all previously developed clinical criteria and guidelines, MSI-testing along with the assessment of the expression patterns of MMR proteins by immunohistochemistry has taken the leading role in the early diagnosis of Lynch syndrome. This article focuses on a brief review about the main evolutionary stages of clinical, anamnestic, molecular and genetic criteria for Lynch syndrome together with the results of our own research on the accuracy of the Amsterdam criteria, the Bethesda guidelines and MSI-diagnostics in the determination of the indications for MMR-genotyping in colorectal cancer patients suspected for Lynch syndrome.https://umo.abvpress.ru/jour/article/view/240colorectal cancerlynch syndromethe amsterdam criteriathe bethesda guidelinesmicrosatellite instability |
| spellingShingle | A. V. Semyanikhina N. I. Pospekhova M. G. Filippova D. A. Golovina A. O. Rasulov L. N. Lyubchenko Clinical, anamnestic, molecular and genetic criteria for Lynch syndrome Успехи молекулярной онкологии colorectal cancer lynch syndrome the amsterdam criteria the bethesda guidelines microsatellite instability |
| title | Clinical, anamnestic, molecular and genetic criteria for Lynch syndrome |
| title_full | Clinical, anamnestic, molecular and genetic criteria for Lynch syndrome |
| title_fullStr | Clinical, anamnestic, molecular and genetic criteria for Lynch syndrome |
| title_full_unstemmed | Clinical, anamnestic, molecular and genetic criteria for Lynch syndrome |
| title_short | Clinical, anamnestic, molecular and genetic criteria for Lynch syndrome |
| title_sort | clinical anamnestic molecular and genetic criteria for lynch syndrome |
| topic | colorectal cancer lynch syndrome the amsterdam criteria the bethesda guidelines microsatellite instability |
| url | https://umo.abvpress.ru/jour/article/view/240 |
| work_keys_str_mv | AT avsemyanikhina clinicalanamnesticmolecularandgeneticcriteriaforlynchsyndrome AT nipospekhova clinicalanamnesticmolecularandgeneticcriteriaforlynchsyndrome AT mgfilippova clinicalanamnesticmolecularandgeneticcriteriaforlynchsyndrome AT dagolovina clinicalanamnesticmolecularandgeneticcriteriaforlynchsyndrome AT aorasulov clinicalanamnesticmolecularandgeneticcriteriaforlynchsyndrome AT lnlyubchenko clinicalanamnesticmolecularandgeneticcriteriaforlynchsyndrome |