Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon
Aim of investigation. To study clinical and genetic characteristics of the attenuated form of familial adenomatosis of the colon. Material and methods. Overall 123 patients with familial adenomatosis of the colon, underwent clinical and genetic investigation. Results. Of all patients 60,2 % had clas...
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| Format: | Article |
| Language: | Russian |
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Gastro LLC
2011-05-01
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| Series: | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
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| Online Access: | https://www.gastro-j.ru/jour/article/view/1428 |
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| author | A. M. Kuzminov A. V. Karpukhin I. Yu. Sachkov Yu. Yu. Chubarov T. A. Savel’yeva |
| author_facet | A. M. Kuzminov A. V. Karpukhin I. Yu. Sachkov Yu. Yu. Chubarov T. A. Savel’yeva |
| author_sort | A. M. Kuzminov |
| collection | DOAJ |
| description | Aim of investigation. To study clinical and genetic characteristics of the attenuated form of familial adenomatosis of the colon. Material and methods. Overall 123 patients with familial adenomatosis of the colon, underwent clinical and genetic investigation. Results. Of all patients 60,2 % had classical form of disease, 24,4% – aggressive, 15,4% – attenuated. At attenuated form mutation in АРС gene occurred within 450 and 510 codons and on the edges of this gene that allows both to reveal disease at preclinical stage, and to identify the attenuated variant. For this variant of adenomatosis absence of metabolic disorders and development of cancer after 50 years is typical that requires onset of treatment by endoscopic polypectomy with subsequent extensive resections of the colon if necessary. |
| format | Article |
| id | doaj-art-b9b29b2b86654535b7257db30bbd2af3 |
| institution | Kabale University |
| issn | 1382-4376 2658-6673 |
| language | Russian |
| publishDate | 2011-05-01 |
| publisher | Gastro LLC |
| record_format | Article |
| series | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| spelling | doaj-art-b9b29b2b86654535b7257db30bbd2af32025-02-10T16:14:31ZrusGastro LLCРоссийский журнал гастроэнтерологии, гепатологии, колопроктологии1382-43762658-66732011-05-012138085964Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colonA. M. Kuzminov0A. V. Karpukhin1I. Yu. Sachkov2Yu. Yu. ChubarovT. A. Savel’yeva3ФГУ «Государственный научный центр колопроктологии» Минздравсоцразвития Российской ФедерацииФГУ «Государственный научный центр колопроктологии» Минздравсоцразвития Российской ФедерацииФГУ «Государственный научный центр колопроктологии» Минздравсоцразвития Российской ФедерацииФГУ «Государственный научный центр колопроктологии» Минздравсоцразвития Российской ФедерацииAim of investigation. To study clinical and genetic characteristics of the attenuated form of familial adenomatosis of the colon. Material and methods. Overall 123 patients with familial adenomatosis of the colon, underwent clinical and genetic investigation. Results. Of all patients 60,2 % had classical form of disease, 24,4% – aggressive, 15,4% – attenuated. At attenuated form mutation in АРС gene occurred within 450 and 510 codons and on the edges of this gene that allows both to reveal disease at preclinical stage, and to identify the attenuated variant. For this variant of adenomatosis absence of metabolic disorders and development of cancer after 50 years is typical that requires onset of treatment by endoscopic polypectomy with subsequent extensive resections of the colon if necessary.https://www.gastro-j.ru/jour/article/view/1428familial adenomatosis of the colonpolyps of the large intestineарс genegenetic testingsurgical treatment of familial adenomatosis |
| spellingShingle | A. M. Kuzminov A. V. Karpukhin I. Yu. Sachkov Yu. Yu. Chubarov T. A. Savel’yeva Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon Российский журнал гастроэнтерологии, гепатологии, колопроктологии familial adenomatosis of the colon polyps of the large intestine арс gene genetic testing surgical treatment of familial adenomatosis |
| title | Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon |
| title_full | Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon |
| title_fullStr | Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon |
| title_full_unstemmed | Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon |
| title_short | Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon |
| title_sort | clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon |
| topic | familial adenomatosis of the colon polyps of the large intestine арс gene genetic testing surgical treatment of familial adenomatosis |
| url | https://www.gastro-j.ru/jour/article/view/1428 |
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