A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer

Kaohsiung Journal of Medical Sciences

Volumn 27, Issue 2, 2011, Pages 68-71

  Chen, Wen Chau ^a   Lin, Shao Chieh ^b   Lee, Jenq Chang ^b  

^a NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

Author keywords

HNPCC; Mismatch repair; MSH2 gene; Mutation

Indexed keywords

GENOMIC DNA; PROTEIN MLH1; PROTEIN MSH2;

ADULT; ARTICLE; CANCER STAGING; CASE REPORT; COLON ADENOCARCINOMA; COLON RESECTION; DNA SEQUENCE; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MALE; MISMATCH REPAIR; NONSENSE MUTATION; OUTCOME ASSESSMENT; POLYMERASE CHAIN REACTION; TAIWAN;

CODON, NONSENSE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; PEDIGREE;

EID: 79952298225     PISSN: 1607551X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.kjms.2010.05.002     Document Type: Article

References (14)

1. de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 2004;4:769-80.
2. Merg A, Lynch HT, Lynch JF, Howe JR. Hereditary colorectal cancer-part II. Curr Probl Surg 2005;42:267-333.
3. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.
4. Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, et al. A National Cancer Institute Workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997;89:1758-62.
5. Umar A, Risinger JI, Hawk ET, Barrett JC. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer 2004;4:153-8. (Pubitemid 38198743)
6. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, et al. Revised Bethesda guidelines for hereditary non-polyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-8. (Pubitemid 38256271)
7. Pinol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, et al. Accuracy of revised Bethesda guidelines, microsatellite instability and immunohistochemistry for the identification of patients with hereditary non-polyposis colorectal cancer. JAMA 2005;293:1986-94. (Pubitemid 40570892)
8. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, et al. A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: development on international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57. (Pubitemid 28521189)
9. Parc Y, Boisson C, Thomas G, Olschwang S. Cancer risk in 348 French MSH2 or MLH1 gene carriers. J Med Genet 2003;40:208-13. (Pubitemid 36315394)
10. Thorson AG, Faria J. Familial adenomatous polyposis, hereditary nonpolyposis colon cancer, and familial risk: what are the implications for the surgeon? Surg Oncol Clin N Am 2000;9:683-701.
11. Peltomaki P, de la Chapelle A. Mutations predisposing to hereditary nonpolyposis colorectal cancer. Adv Cancer Res 1997;71:93-119. (Pubitemid 27197757)
12. Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 1996;2:169-74. (Pubitemid 26057553)
13. Peltomaki P, Vasen HF. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on hereditary non-polyposis colorectal cancer. Gastroenterology 1997;113:1146-58. (Pubitemid 27418968)
14. (MSH2: http://www.ncbi.nlm.nih.gov/nuccore/NG-007110.1; MLH1: http://www.ncbi.nlm.nih.gov/nuccore/NG-007109.1).