A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer

Cancer Genetics and Cytogenetics

Volumn 182, Issue 2, 2008, Pages 136-139

  Park, Seo Jin ^a   Lee, Kyung A ^a   Park, Tae Sung ^a   Kim, Nam Kyu ^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

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; COLORECTAL CANCER; CONTROLLED STUDY; GENE; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; HUMAN CELL; HUMAN TISSUE; KOREA; MISMATCH REPAIR; MISSENSE MUTATION; MLH1 GENE; MSH2 GENE; NUCLEOTIDE SEQUENCE; ONCOGENE; PRIORITY JOURNAL; SPLICEOSOME;

ADENOCARCINOMA; AGED; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; FEMALE; GERM-LINE MUTATION; HUMANS; KOREA; MALE; MIDDLE AGED; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN;

EID: 41749117956     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2008.01.011     Document Type: Article

References (20)

1. Aaltonen L.A., Salovaara R., Kristo P., Canzian F., Hemminki A., Peltomäki P., Chadwick R.B., Kääriäinen H., Eskelinen M., Järvinen H., Mecklin J.P., and de la Chapelle A. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 338 (1998) 1481-1487
2. Lynch H.T., and de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 348 (2003) 919-932
3. 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
4. Vasen H.F., Watson P., Mecklin J.P., and Lynch H.T. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116 (1999) 1453-1456
5. Umar A., Boland C.R., Terdiman J.P., Syngal S., de la Chapelle A., Rüschoff 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
6. Kurzawski G., Safranow K., Suchy J., Chlubek D., Scott R.J., and Lubiński J. Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography. J Biochem Biophys Methods 51 (2002) 89-100
7. Piñol V., Castells A., Andreu M., Castellví-Bel S., Alenda C., Llor X., Xicola R.M., Rodríguez-Moranta F., Payá A., Jover R., and Bessa X. Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 293 (2005) 1986-1994
8. Syngal S., Fox E.A., Li C., Dovidio M., Eng C., Kolodner R.D., and Garber J.E. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. JAMA 282 (1999) 247-253
9. Mangold E., Pagenstecher C., Friedl W., Mathiak M., Buettner R., Engel C., Loeffler M., Holinski-Feder E., Müller-Koch Y., Keller G., Schackert H.K., Krüger S., Goecke T., Moeslein G., Kloor M., Gebert J., Kunstmann E., Schulmann K., Rüschoff J., and Propping P. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer 116 (2005) 692-702
10. 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
11. Bianchi F., Galizia E., Porfiri E., Belvederesi L., Catalani R., Loretelli C., Bracci R., Bearzi I., Turchi C., Viel A., and Cellerino R. A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy. Fam Cancer 6 (2007) 97-102
12. Ng P.C., and Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 7 (2006) 61-80
13. Ng P.C., and Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 11 (2001) 863-874
14. Ferrer-Costa C., Gelpí J.L., Zamakola L., Parraga I., de la Cruz X., and Orozco M. PMUT: a Web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21 (2005) 3176-3178
15. Ramensky V., Bork P., and Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30 (2002) 3894-3900
16. Lee S.C., Guo J.Y., Lim R., Soo R., Koay E., Salto-Tellez M., Leong A., and Goh B.C. Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Clin Genet 68 (2005) 137-145
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. 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
19. Krüger S., Bier A., Plaschke J., Höhl 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
20. Baudi F., Fersini G., Lavecchia A., Terracciano R., Leone F., Quaresima B., Faniello M.C., De Paola L., Doldo P., Cuda G., Costanzo F., and Venuta S. A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. Cancer Lett 223 (2005) 285-291