Синдром Линча среди российских больных колоректальным раком с отягощенным анамнезом

Н.И. Поспехова; В.П. Шубин; С.И. Ачкасов; В.Н. Кашников; С.А. Фролов; А.С. Цуканов; Ю.А. Шелыгин

Синдром Линча среди российских больных колоректальным раком с отягощенным анамнезом

Н.И. Поспехова¹, В.П. Шубин², С.И. Ачкасов³, В.Н. Кашников⁴, С.А. Фролов⁵, А.С. Цуканов⁶, Ю.А. Шелыгин⁷

научная статья Страницы: 59-64

¹ д.б.н., рук. отдела лабораторной генетики, Государственный научный центр колопроктологии (Москва)
² к.б.н., ст. науч. сотрудник, отдел лабораторной генетики, Государственный научный центр колопроктологии (Москва)
³ д.м.н., профессор, руководитель онкологического отделения хирургии ободочной кишки, Государственный научный центр колопроктологии (Москва)
⁴ к.м.н., зам. директора по научно-лечебной работе, Государственный научный центр колопроктологии (Москва)
⁵ д.м.н., зам. директора по научной работе, Государственный научный центр колопроктологии (Москва)
⁶ к.м.н., зав. кабинетом лабораторной генетики, Государственный научный центр колопроктологии (Москва)
⁷ д.м.н., профессор, директор, Государственный научный центр колопроктологии (Москва)

Ключевые слова: рак толстой кишки синдром Линча наследственные мутации гены MLH1/MSH2

Аннотация

Рассмотрен поиск больных с синдромом Линча среди российских пациентов по клиническим критериям, предполагающим его наличие.

Для цитирования

Поспехова Н.И., Шубин В.П., Ачкасов С.И., Кашников В.Н., Фролов С.А., Цуканов А.С., Шелыгин Ю.А. Синдром Линча среди российских больных колоректальным раком с отягощенным анамнезом // Вопросы биологической, медицинской и фармацевтической химии. 2014. № 1. С. 59–64.

Список источников

Lynch H.T., Lynch P.M., Lanspa S.J. et al. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramiﬁcations // Clin. Genet. 2009. V. 76. P. 1-18.
Vasen H.F., Moslein G., Alonso A. et al. Guidelines for the clinical managment of Lynch syndrome (hereditary nonpolyposis cancer) // J. Med. Genet. 2007. V. 44. P. 353-362.
Clendenning M., Baze M.E., Sun S. et al. Origins and prevalence of the American Founder Mutation of MSH2 // Cancer Res. 2008. V. 68(7). P. 2145-2153.
Foulkes W.D., Thiffault I., Gruber S.B. et al. The founder mutation MSH2*1906G>C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population // Am. J. Hum. Genet. 2002. V. 71. P. 1395-412.
Moreira L., Balaguer F., Lindor N. et al.Identiﬁcation of Lynch syndrome among patients with colorectal cancer // JAMA. 2012. V. 308. P. 1555-1565.
Peltomaki P. Lynch syndrome genes // Familial Cancer. 2005. № 4. Р. 227-232.
Ku C.S., Cooper D.N., Wu M. et al. Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectalcancer type X // Mod. Pathol. 2012. V. 25(8). P. 1055-1068.
Vasen H.F., Mecklin J.P., Khan P.M. et al.International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC) // Dis. Colon Rectum. 1991. V. 34. P. 424-425.
Vasen H.F., Watsan P., Mecklin J.P. et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC // Gastroenterology 1999. V. 116. P. 1453-1456.
Umar A., Boland C.R., Terdiman J.P. et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability // J. Natl. Cancer Inst. 2004. V. 96. P. 261-268.
Vasen H.F., Blanco I., Aktan-Collan K. et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts // Gut. 2013. № 62. Р. 812-823.
Rodríguez-Soler M., Pérez-Carbonell L., Guarinos C. et al. Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation // Gastroenterology. 2013. V. 144. P. 926-932.
Wagner A., Barrows A., Wijnen J.T. et al. Molecular Analysis of Hereditary Nonpolyposis Colorectal Cancer in the United States: High Mutation Detection Rate among Clinically Selected Families and Characterization of an American Founder Genomic Deletion of the MSH2 Gene // Am. J. Hum. Genet. 2003. V. 72. P. 1088-1100.
Nyström-Lahti M., Wu Y., Moisio A.L. et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer // Hum. Mol. Genet. 1996. V. 5. P. 763-769.
Raevaara T.E., Vaccaro C., Abdel-Rahman W.M. et al. Pathogenicity of the Hereditary Colorectal Cancer Mutation hMLH1 del616 Linked to Shortage of the Functional Protein // Gastroenterology. 2003. V. 125. P. 501-509.
Takahashi M., Shimodaira H., Andreutti-Zaugg C. et al. Functional Analysis of Human MLH1 Variants Using Yeast and In vitro Mismatch Repair Assays // Cancer Res. 2007. V. 67. P. 4595-4604.
Sheng J.Q., Fu L., Sun Z.Q. et al.Mismatch repair gene mutations in Chinese HNPCC patients // Cytogenet. Genome Res. 2008. V. 122(1). P. 22-27.

[1] Lynch H.T., Lynch P.M., Lanspa S.J. et al. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramiﬁcations // Clin. Genet. 2009. V. 76. P. 1-18.

[2] Vasen H.F., Moslein G., Alonso A. et al. Guidelines for the clinical managment of Lynch syndrome (hereditary nonpolyposis cancer) // J. Med. Genet. 2007. V. 44. P. 353-362.

[3] Clendenning M., Baze M.E., Sun S. et al. Origins and prevalence of the American Founder Mutation of MSH2 // Cancer Res. 2008. V. 68(7). P. 2145-2153.

[4] Foulkes W.D., Thiffault I., Gruber S.B. et al. The founder mutation MSH2*1906G>C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population // Am. J. Hum. Genet. 2002. V. 71. P. 1395-412.

[5] Moreira L., Balaguer F., Lindor N. et al.Identiﬁcation of Lynch syndrome among patients with colorectal cancer // JAMA. 2012. V. 308. P. 1555-1565.

[6] Peltomaki P. Lynch syndrome genes // Familial Cancer. 2005. № 4. Р. 227-232.

[7] Ku C.S., Cooper D.N., Wu M. et al. Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectalcancer type X // Mod. Pathol. 2012. V. 25(8). P. 1055-1068.

[8] Vasen H.F., Mecklin J.P., Khan P.M. et al.International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC) // Dis. Colon Rectum. 1991. V. 34. P. 424-425.

[9] Vasen H.F., Watsan P., Mecklin J.P. et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC // Gastroenterology 1999. V. 116. P. 1453-1456.

[10] Umar A., Boland C.R., Terdiman J.P. et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability // J. Natl. Cancer Inst. 2004. V. 96. P. 261-268.

[11] Vasen H.F., Blanco I., Aktan-Collan K. et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts // Gut. 2013. № 62. Р. 812-823.

[12] Rodríguez-Soler M., Pérez-Carbonell L., Guarinos C. et al. Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation // Gastroenterology. 2013. V. 144. P. 926-932.

[13] Wagner A., Barrows A., Wijnen J.T. et al. Molecular Analysis of Hereditary Nonpolyposis Colorectal Cancer in the United States: High Mutation Detection Rate among Clinically Selected Families and Characterization of an American Founder Genomic Deletion of the MSH2 Gene // Am. J. Hum. Genet. 2003. V. 72. P. 1088-1100.

[14] Nyström-Lahti M., Wu Y., Moisio A.L. et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer // Hum. Mol. Genet. 1996. V. 5. P. 763-769.

[15] Raevaara T.E., Vaccaro C., Abdel-Rahman W.M. et al. Pathogenicity of the Hereditary Colorectal Cancer Mutation hMLH1 del616 Linked to Shortage of the Functional Protein // Gastroenterology. 2003. V. 125. P. 501-509.

[16] Takahashi M., Shimodaira H., Andreutti-Zaugg C. et al. Functional Analysis of Human MLH1 Variants Using Yeast and In vitro Mismatch Repair Assays // Cancer Res. 2007. V. 67. P. 4595-4604.

[17] Sheng J.Q., Fu L., Sun Z.Q. et al.Mismatch repair gene mutations in Chinese HNPCC patients // Cytogenet. Genome Res. 2008. V. 122(1). P. 22-27.