Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer

Human Mutation

Volumn 7, Issue 4, 1996, Pages 327-333

  Jeon, Hae Mung ^a   Lynch, Patrick M ^a   Howard, Linda ^a   Ajani, Jaffer ^a   Levin, Bernard ^a   Frazier, Marsha L ^a,b  

^a UNIVERSITY OF TEXAS   (United States)

^b UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Frame shift mutation; hMSH2 gene; HNPCC syndrome

Indexed keywords

DNA;

ADULT; AGED; ARTICLE; BREAST CANCER; CLINICAL ARTICLE; COLORECTAL CANCER; DNA SEQUENCE; FAMILIAL CANCER; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; CODON; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEIC ACID HETERODUPLEXES; PEDIGREE; PROTO-ONCOGENE PROTEINS;

EID: 19144372887     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:4<327::AID-HUMU6>3.0.CO;2-5     Document Type: Article

References (17)

1. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, Powell SM, Jen J, Hamilton SR, Petersen GM, Kinzler KW, Vogelstein B, de la Chapelle A (1993) Clue to the pathogenesis of familial colorectal cancer. Science 260:812-816.
2. Blair NP, Trempe CL (1980) Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. Am J Ophthalmol 90:661-667.
3. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergard P, Bollag RJ, Godwin AR, Ward DC, Nordenskjold M, Fishel R, Kolodner R, Liskay RM (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368:258-261.
4. Bussey HJR, Veale AMO, Morson BC (1978) Genetic and gastrointestinal polyposis. Gastroenterology 74:1325-1330.
5. Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R (1993) The human mutator gene homology MSH2 and its association with hereditary non-polyposis colon cancer. Cell 75:1027-1038.
6. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, Guan XY, Zhang J, Meltzer PS, Yu JW, Kao F-T, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P, Jarvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, de la Chapelle A, Kinzler KW, Vogelstein B (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225.
7. Liu B, Parsons RE, Hamilton SR, Petersen GM, Lynch HT, Watson P, Markowitz S, Willson JKV, Green J, de la Chapelle A, Kinzler KW, Vogelstein B (1994) hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 54:4590-4594.
8. Lynch HT, Lanspa S, Smyrik T, Boman B, Watson P, Lynch J (1991) Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). Genetics, pathology, natural history and cancer control, part I. Cancer Genet Cytogenet 53:143-160.
9. Lynch HT, Watson P, Kriegler M, Lynch J, Lanspa S, Marcus J, Smyrk T, Fitzgibbons, Cristofaro G (1988) Differential diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome I and Lynch syndrome II). Dis Colon Rectum 31:372-377.
10. Lynch HT, Ens J, Lynch JF, Watson P (1988) Tumor variation in three extended Lynch syndrome II kindreds. Am J Gastroenterol 83:741-747.
11. Mary J-L, Bishop T, Kolodner R, Lipford JR, Kane M, Weber W, Torhorst J, Muller H, Spycher M, Scott RJ (1994) Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development Hum Mol Genet 3:2067-2069.
12. Mecklin JP, Jarvinen HJ (1991) Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 68:1109-1112.
13. Mulvihill JJ (1983) The frequency of hereditary large bowel cancer. In Ingall JRF, Mastromarino AJ (eds): Prevention of Hereditary Large Bowel Cancer. New York: Alan R. Liss, pp 61-75.
14. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Petersen GM, de la Chapelle A, Vogelstein B, Kinzler KW (1994) Mutations of two PMS homologues in hereditary non-polyposis colon cancer. Nature 371:75-80.
15. Papadopoulos N, Nicolaides NC, Wei Y-F, Rube SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomaki P, Mecklin J-P, de la Chapelle A, Kinrler KW, Vogelstein B (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263:1625-1629.
16. Vasen HFA, Mecklin JP, Khan PM, Lynch HT (1991) The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34:424-425.
17. Vasen HF, Mecklin JP, Watson P, Utsunomiya J, Bertario L, Lynch P, Svendsen LB, Cristofaro G, Muller H, Khan PM, Lynch HT (1993) Surveillance in hereditary nonpolyposis colorectal cancer: an international cooperative study of 165 families. Dis. Colon Rectum 36:1-4.