Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer

Cancer Genetics and Cytogenetics

Volumn 188, Issue 2, 2009, Pages 61-64

  Yoon, Seoyoung ^a   Park, Tae Sung ^a   Kim, Nam Kyu ^a   Lee, Kyung A ^a   Kim, Juwon ^a   Song, Jaewoo ^a   Kim, Bo Young ^b   Choi, Jong Rak ^a  

^a Yonsei University College of Medicine   (South Korea)

^b Seoul Medical Science Institute   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

ADULT; ARTICLE; CANCER GENETICS; CLINICAL ARTICLE; COLORECTAL CANCER; DNA DETERMINATION; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; HUMAN; KOREA; MALE; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ASIAN CONTINENTAL ANCESTRY GROUP; CODON, TERMINATOR; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; EXONS; FAMILY; FEMALE; FRAMESHIFT MUTATION; GERM-LINE MUTATION; HUMANS; KOREA; MALE; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PEDIGREE;

EID: 57549090222     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2008.09.001     Document Type: Article

References (20)

1. Umar A., Risinger J.I., Hawk E.T., and Barrett J.C. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer 4 (2004) 153-158
2. Muller A., and Fishel R. Mismatch repair and the hereditary non-polyposis colorectal cancer syndrome (HNPCC). Cancer Invest 20 (2002) 102-109
3. Bronner C.E., Baker S.M., Morrison P.T., Warren G., Smith L.G., Lescoe M.K., Kane M., Earabino C., Lipford J., Lindblom A., Tannergård P., Bollag R.J., Godwin A.R., Ward D.C., Nordenskjöld M., Fishel R., Kolodner R., and Liskay R.M. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368 (1994) 258-261
4. Fishel R., Lescoe M.K., Rao M.R., Copeland N.G., Jenkins N.A., Garber J., Kane M., and Kolodner R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75 (1993) 1027-1038 Erratum in: Cell 1994;77:167
5. Marra G., and Boland C.R. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 87 (1995) 1114-1125
6. Miyaki M., Konishi M., Tanaka K., Kikuchi-Yanoshita R., Muraoka M., Yasuno M., Igari T., Koike M., Chiba M., and Mori T. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17 (1997) 271-272
7. Nicolaides N.C., Papadopoulos N., Liu B., Wei Y.F., Carter K.C., Ruben S.M., Rosen C.A., Haseltine W.A., Fleischmann R.D., Fraser C.M., Adams M.D., Venter J.C., Dunlop M.G., Hamilton S.R., Petersen G.M., de la Chapelle A., Vogelstein B., and Kinzler K.W. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371 (1994) 75-80
8. de La Chapelle A. Microsatellite instability phenotype of tumors: genotyping or immunohistochemistry? The jury is still out. J Clin Oncol 20 (2002) 897-899
9. Sarroca C., Peltomäki P., Alfano N., Tedesco G., Della Valle A., Dominguez A., and Lynch H.T. Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay. Cancer Genet Cytogenet 142 (2003) 13-20
10. Kurzawski G., Safranow K., Suchy J., Chlubek D., Scott R.J., and Lubinski J. Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography. J Biochem Biophys Methods 51 (2002) 89-100
11. Caluseriu O., Cordisco E.L., Viel A., Majore S., Nascimbeni R., Pucciarelli S., and Genuardi M. Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer. Hum Mutat 17 (2001) 521
12. Peltomaki P., and Vasen H.F. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterology 113 (1997) 1146-1158
13. Rey J.M., Noruzinia M., Brouillet J.P., Sarda P., Maudelonde T., and Pujol P. Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. Cancer Genet Cytogenet 155 (2004) 149-151
14. Rodriguez-Bigas M.A., Boland C.R., Hamilton S.R., Henson D.E., Jass J.R., Khan P.M., Lynch H., Perucho M., Smyrk T., Sobin L., and Srivastava S. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89 (1997) 1758-1762
15. Umar A., Boland C.R., Terdiman J.P., Syngal S., de la Chapelle A., Ruschoff J., Fishel R., Lindor N.M., Burgart L.J., Hamelin R., Hamilton S.R., Hiatt R.A., Jass J., Lindblom A., Lynch H.T., Peltomaki P., Ramsey S.D., Rodriguez-Bigas M.A., Vasen H.F., Hawk E.T., Barrett J.C., Freedman A.N., and Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96 (2004) 261-268
16. Pagenstecher C., Wehner M., Friedl W., Rahner N., Aretz S., Friedrichs N., Sengteller M., Henn W., Buettner R., Propping P., and Mangold E. Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet 119 (2006) 9-22
17. Brentnall T.A., Rubin C.E., Crispin D.A., Stevens A., Batchelor R.H., Haggitt R.C., Bronner M.P., Evans J.P., McCahill L.E., Bilir N., Boland C.R., and Rabinovitch P.S. A germline substitution in the human MSH2 gene is associated with high-grade dysplasia and cancer in ulcerative colitis. Gastroenterology 109 (1995) 151-155
18. Kruger S., Bier A., Plaschke J., Hohl R., Aust D.E., Kreuz F.R., Pistorius S.R., Saeger H.D., Rothhammer V., Al-Taie O., and Schackert H.K. Ten novel MSH2 and MLH1 germline mutations in families with HNPCC. Hum Mutat 24 (2004) 351-352
19. Park S.J., Lee K.A., Park T.S., Kim N.K., Song J., Kim B.Y., and Choi J.R. A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer. Cancer Genet Cytogenet 182 (2008) 136-139
20. Woods M.O., Williams P., Careen A., Edwards L., Bartlett S., McLaughlin J.R., and Younghusband H.B. A new variant database for mismatch repair genes associated with Lynch syndrome. Hum Mutat 28 (2007) 669-673