Mutations analysis of STK11 gene in Chinese families with Peutz-Jeghers syndrome

Chinese Science Bulletin

Volumn 48, Issue 4, 2003, Pages 333-337

  Kang, Lianchun ^a   Zhao, Xirong ^a   Zhou, Yongshuang ^a   Jia, Yixing ^a   Kang, Suhai ^a   Chen, Zhu ^a   Zhao, Min ^b   Cui, Jiantao ^b   Li, Wenmei ^b   Sun, Anle ^a   Lu, Youyong ^b  

^a Hospital of People's Liberation Army   (China)

^b PEKING UNIVERSITY CANCER HOSPITAL AND INSTITUTE   (China)

Author keywords

DHPLC; Gene mutation; Peutz Jeghers syndrome; STK11 gene

Indexed keywords

EID: 33749995974     PISSN: 10016538     EISSN: 18619541     Source Type: Journal    
DOI: 10.1360/03tb9070     Document Type: Article

References (27)

1. Peutz, J. L. A., On a very remarkable case of familial polyposis of the mucous membrane of the intestinal tract and nasopharyne accompanied by peculiar pigmentation of the skin and mucous membrane, Ned. Tijdschr. Geneeskd., 1921, 10: 134.
2. Jeghers, H., Mckusick, V. A., Katz, K. N., Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: A syndrome of diagnostic significance, N. Engl. J. Med., 1949, 241: 1031.
3. Boardman, L. A., Thibodeau, S. N., Schaid, D. J. et al., Increased risk for cancer in patients with the Peutz-Jeghers syndrome, Ann. Intern. Med., 1998, 128(11): 896.
4. Giardiello, F. M., Brensinger, J. D., Tersmette, A. C. et al., Very high risk of cancer in familial Peutz-Jeghers syndrome, Gastroenterology, 2000, 119(6): 1447.
5. 11 gene in ovarian carcinomas, Jpn. J. Cancer Res., 1999, 90: 629.
6. Jenne, D. E., Reimann, H., Nezu, J. et al., Peutz-Jeghers syndrome is caused by mutation in a novel serine threonine kinase, Nature Genet., 1998, 18: 38.
7. Hemminki, A., Markie, D., Tomlinson, I. et al., A Serine/Threonine kinase gene defective in Peutz-Jeghers syndrome, Nature, 1998, 391: 184.
8. Nakagawa, H., Koyama, K., Tanaka, T. et al., Localization of the gene responsible for Peutz-Jeghers syndrome within a 6 cM region of chromosome 19p13.3, Hum. Genet., 1998, 102: 203.
9. Hemminki, A., The molecular basis and clinical aspects of Peutz-Jeghers syndrome, Cell Mol. Life Sci., 1999, 55: 735.
10. 11 in ten families with Peutz-Jeghers syndrome. Hum, Genet., 1998, 103(2): 168.
11. Dong, S. M., Kim, K. M., Kim, S. Y. et al., Frequence somatic mutations in Serine/Threonine Kinase 11/Peutz-Jeghers syndrome gene in left colon cancer, Cancer Res., 1998, 17, 58: 3787.
12. 11 in sporadic gastric carcinoma, Int. J. Oncol., 1998, 13: 601.
13. 11, in malignant melanoma, Oncogene, 1998, 18: 1777.
14. Sambrook, J., Fritsch, E. F., Maiatis, T., Molecular Cloning, A Laboratory Manual, New York: Cold Spring Harbor Laboratory, 1989, 9, 17.
15. Zhuang, Z., Bertheau, P., Emmerrt-buck, M. R. et al., A new microdissection technique for archival DNA analysis of specific cell populations in lesions less than one millimeter in size, Am. J. Pathol., 1995, 146: 620.
16. Liu, W., Smith, D. L., Rechtzigel, K. J. et al., Denaturing high-performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutation, Nucleic Acid Research, 1998b, 26: 1396.
17. Gross, E., Kiechle, M., Arnold, N., Mutation analysis of p53 in ovarian tumors by DHPLC, J. Biochem. Biophys. Methods, 200, 47(1-2): 73.
18. 1 are rare in sporadic colorectal and testicular tumors, Cancer Res., 1998, 15, 58(10): 2087.
19. 11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer, Cancer Res., 1998, 1, 58(21): 4799.
20. 11 gene in Chinese with Peutz-Jeghers syndrome, Chin. J. Med. Genet., 2001, 18(1): 4.
21. Tiainen, M., Ylikorkala, A., Makela, T. P., Growth suppression by Lkb1 is mediated by a G(1) cell cycle arrest, Proc. Natl. Acad. Sci. USA, 1999, 3, 96(16): 9248.
22. 1 is a mediator of p53-dependent cell death, Mol. Cell, 2001, 7(6): 1307.
23. 11 gene in a sporadic gastrointestinal cancer with microsatellite instability, Jpn. J. Cancer Res., 1999, 90: 633.
24. 1 endoes a nuclear protein kinase, Hum. Mol. Genet., 1999, 1479.
25. Mehenni, H., Blouin, J. L., Radhakrishna, U. et al., Peutz-Jeghers syndrome: Confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4, Am. J. Hum. Genet., 1997, 61(6): 1327.
26. 1 germline mutations are not identified in most Peutz-Jeghers syndrome patients, Clin. Genet., 1999, 56(2): 136.
27. Olschwang, S., Markie, D., Seal, S. et al., Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3, J. Med. Genet., 1998, 35(1): 42.