Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

Nature Genetics

Volumn 38, Issue 10, 2006, Pages 1178-1183

  Chan, Tsun Leung ^a   Yuen, Siu Tsan ^a,b   Kong, Chi Kwan ^c   Chan, Yee Wai ^a   Chan, Annie S Y ^a   Ng, Wai Fu ^c   Tsui, Wai Yin ^a   Lo, Michelle W S ^a   Tam, Wing Yip ^a   Li, Vivian S W ^a   Leung, Suet Yi ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b St Paul's Hospital Hong Kong   (Hong Kong)

^c YAN CHAI HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MSH2;

ARTICLE; CANCER TISSUE; COLORECTAL CANCER; CONTROLLED STUDY; DNA HYPERMETHYLATION; DNA METHYLATION; EARLY CANCER; ENDOMETRIUM CANCER; FAMILIAL CANCER; FEMALE; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOCYTE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MOLECULAR CLONING; PRIORITY JOURNAL; RECTUM MUCOSA; SEQUENCE ANALYSIS; TISSUE DISTRIBUTION;

ADULT; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MUTS HOMOLOG 2 PROTEIN; PEDIGREE;

EID: 33749122904     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1866     Document Type: Article

References (20)

1. Lynch, H.T. & de la Chapelle, A. Hereditary colorectal cancer. N. Engl. J. Med. 348, 919-932 (2003).
2. Herman, J.G. et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc. Natl. Acad. Sci. USA 95, 6870-6875 (1998).
3. Kane, M.F. et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 57, 808-811 (1997).
4. Chong, S. & Whitelaw, E. Epigenetic germline inheritance. Curr. Opin. Genet. Dev. 14, 692-696 (2004).
5. Morgan, H.D., Santos, F., Green, K., Dean, W. & Reik, W. Epigenetic reprogramming in mammals. Hum. Mol. Genet. 14(suppl. 1), R47-R58 (2005).
6. Suter, C.M., Martin, D.I. & Ward, R.L. Germline epimutation of MLH1 in individuals with multiple cancers. Nat. Genet. 36, 497-501 (2004).
7. Hitchins, M. et al. MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology 129, 1392-1399 (2005).
8. Gazzoli, I., Loda, M., Garber, J., Syngal, S. & Kolodner, R.D. A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Res. 62, 3925-3928 (2002).
9. Miyakura, Y. et al. Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability. Clin. Gastroenterol. Hepatol. 2, 147-156 (2004).
10. Chan, T.L. et al. MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. Am. J. Hum. Genet. 74, 1035-1042 (2004).
11. Tost, J., Dunker, J. & Gut, I.G. Analysis and quantification of multiple methylation variable positions in CpG islands by Pyrosequencing. Biotechniques 35, 152-156 (2003).
12. Colella, S., Shen, L., Baggerly, K.A., Issa, J.P. & Krahe, R. Sensitive and quantitative universal Pyrosequencing methylation analysis of CpG sites. Biotechniques 35, 146-150 (2003).
13. Rijcken, F.E., Hollema, H. & Kleibeuker, J.H. Proximal adenomas in hereditary nonpolyposis colorectal cancer are prone to rapid malignant transformation. Gut 50, 382-386 (2002).
14. Cubas, P., Vincent, C. & Coen, E. An epigenetic mutation responsible for natural variation in floral symmetry. Nature 401, 157-161 (1999).
15. Chan, T.L., Zhao, W., Leung, S.Y. & Yuen, S.T. BRAF and KRAS mutations in colorectal hyperplastic polyps and serrated adenomas. Cancer Res. 63, 4878-4881 (2003).
16. Leung, S.Y. et al. hMLH1 promoter methylation and lack of hMLH1 expression in sporadic gastric carcinomas with high-frequency microsatellite instability. Cancer Res. 59, 159-164 (1999).
17. Chan, T.L. et al. Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. J. Natl. Cancer Inst. 91, 1221-1226 (1999).
18. Schouten, J.P. et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57 (2002).
19. Chan, A.S. et al. Downregulation of ID4 by promoter hypermethylation in gastric adenocarcinoma. Oncogene 22, 6946-6953 (2003).
20. Yuen, S.T. et al. Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. Oncogene 21, 7585-7592 (2002).