Molecular genetics study of hereditary predisposition to diffuse gastric cancer patients in Russian patients
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Keywords

наследственный диффузный рак желудка
мутации
ген-супрессор

How to Cite

, , , , , , , , & . (2013). Molecular genetics study of hereditary predisposition to diffuse gastric cancer patients in Russian patients. Voprosy Onkologii, 70(3), 580–584. https://doi.org/10.37469/0507-3758-2013-59-5-580-584

Abstract

About 3% of cases of gastric cancer (GC) cases are due to hereditary predisposition. Molecular causes of inherited predisposition to diffuse GC among Russian patients have not been studied. In the present work there was performed the molecular genetics study in 9 probands with signet-ring cell GC. Search of hereditary mutations was conducted in a suppressor gene of diffuse GC — the gene CDH1. We have discovered a new hereditary mutation (c.1005delA) and one rare variant (s.2253C> T). Frequency of hereditary mutations in sample of patients Russian was 1/9 (11,1%).
https://doi.org/10.37469/0507-3758-2013-59-5-580-584
PDF (Русский)

References

Давыдов М.И., Аксель Е.М. Смертность населения России и стран СНГ от злокачественных новообразований в 2007 г. // Вестник РОНЦ им. Н.Н. Блохина РАМН. - Приложение 1. - 2009. - Т. 20. — № 3. — С. 54.

Цуканов А.С., Поспехова Н.И., Любченко Л.Н. и др. Молекулярно-генетический анализ генов наследственной предрасположенности к раку желудка // Мед. генетика. - 2007. — № 12. - С. 30-34.

Цуканов А.С., Поспехова Н.И., Карпухин А.В. Наследственная предрасположенность к раку желудка // Мед. генетика. - 2006. — № 4. - С. 16-21.

Шайн А.А. Онкология для студента и молодого врача. Рак органов пищеварения // Тюмень: «Скорпион». — 2000. — 368 с.

Bacani J.T., Soares M., Zwingerman R. CDH1/E-cadherin germline mutations in early-onset gastric cancer // J Med Genet. - 2006. - Vol. 43. - P. 867-872.

Becker K.F., Aktinson M.J., Reich U. et al. E-cadherin gene mutations provide clues to diffuse type gastric carcinomas // Cancer Res. - 1994. — 54. — P. 3845

Berx G., Becker K.F., Hofler H. et al. Mutations of the human E-cadherin gene (CDH1) // Hum. Mutat. - 1998. - Vol. 12. - P. 226-237.

Brooks-Wilson A.R., Kaurah P., Suriano G. et al. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria // J. Med. Genet. - 2005. — Vol. 41. - P. 508-17.

Caldas C., Carneiro F., Castedo S. et al. Familial gastric cancer: overview and guidelines for management // J. Med. Genet. - 1999. - Vol. 36. - P. 873-880.

Christofori G., Semb H. The role of the cell-adhesion molecule E-cadherin as a tumor-suppressor gene // Trends biochem. Sci. - 1999. — Vol. 24. - Р. 73-76.

Fearnhead N.S., Winney B., Bodmer W.F. Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model // Cell Cycle. - 2005. - Vol. 4. - P. 521-525.

Fitzgerald R., Hardwick R., Huntsman D. et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research // J. Med. Genet. -2010 — Vol. 47. — P. 436-444.

Suriano G., Yew S., Ferreira P. et al. Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management // Clin. Cancer Res. - 2005. - Vol. 11. - P. 5401 -5409.

Graziano F., Humar B., Guilford P. The role of the E-cadherin gene (CDH1) in diffuse gastric cancer susceptibility: from the laboratory to clinical practice // Ann. Oncol. - 2003. — Vol. 14. - Р. 1705-1713.

Guilford P., Hopkins J., Harraway J. et al. E-cadherin germline mutations in familial gastric cancer // Nature -1998. Vol. - 392. — P. 402-405.

Keller G., Vogelsang H., Becker I. et al. Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients // J. Med. Genet. - 2004. - Vol. 41. - P. 89-93.

Lauren P. The two histological main types of gastric carcinoma. An attempt at a histo-clinical classification // Acta Pathol. Microbiol. Scand. - 1965. — Vol. 64. — P. 31-49.

Lynch H.T., Grady W., Suriano G. et al. Gastric Cancer: New Genetic Developments // J. Surg. oncology. -2005. - Vol. 90. - P. 114-133.

Oliveira C., Ferreira P., Nabais S. et al. E-Cadherin (CDH1) and p53 rather than SMAD4 and caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients // Europ. J. Cancer. — 2004. — Vol. 40 — P. 1897-18903.

Oliveira C., Pinheiro H., Figueiredo J. et al. E-Cadherin Alterations in hereditary disorders with emphasis on hereditary diffuse gastric progress // Molec. Biol. Translation. Science — 2013. — Vol. 116. - P. 337-359.

Oliveira C., Seruka R., Caldas C. et al. Genetic screening for HDGC // Rev. Mol. Diagn. - 2003. - Vol. 3. - P. 201-215.

Zhang Y., Liu X., Fan Y. et al. Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China // Int. J. Cancer - 2006. — Vol. 119 - P. 2592

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