Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria

Human Genetics

Volumn 99, Issue 2, 1997, Pages 219-224

  Beck, Nicholas E ^a   Tomlinson, Ian P M ^a   Homfray, Tessa ^a   Frayling, Ian ^b   Hodgson, Shirley V ^b   Harocopos, Chris ^b   Bodmer, Walter F ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b EALING HOSPITAL NHS TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BASE MISPAIRING; CANCER DIAGNOSIS; COLORECTAL CANCER; DNA SEQUENCE; FAMILIAL CANCER; FRAMESHIFT MUTATION; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; GERM-LINE MUTATION; HUMANS; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS;

EID: 0031016750     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050343     Document Type: Article

References (24)

1. Aaltonen LA, Sankila R, Mecklin J-P, Jarvinen H, Pukkala E, Peltomaki P, De la Chapelle A (1994) A novel approach to estimate the proportion of hereditary non-polyposis colorectal cancer of total colorectal cancer burden. Cancer Detect Prev 18 : 57-63
2. Buerstedde JM, Alday P, Torhorst J, Weber W, Muller H, Scott R (1995) Detection of new mutations in six out of ten Swiss families by genomic sequencing of the hMSH2 and hMLH1 genes. J Med Genet 32 : 909-912
3. Cunningham C, Dunlop MG (1996) Molecular genetic basis of colorectal cancer susceptibility. Br J Surg 83 : 321-329
4. Fan E, Levin DB, Glickman BW, Logan DM (1993) Limitations in the use of SSCP analysis. Mutat Res 288 : 85-92
5. Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75 : 1027-1038
6. Glavac D, Dean M (1993) Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 2 : 404-414
7. Man H-J, Maruyama M, Baba S, Park J-G, Nakamura Y (1995) Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC). Hum Mol Genet 4 : 237-242
8. Hayashi K (1991) PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Appl 1 : 34-38
9. Kee F, Collins BJ (1991) How prevalent is cancer family syndrome? Gut 32 : 509-512
10. Leach FS, Nicolaides NC, Papadopolous N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, Guan X-Y, Zhang J, Meltzer PS, Yu JW, Kao FT, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin JP, 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 non-polyposis colorectal cancer. Cell 75 : 1215-1225
11. Li GM, Modrich P (1995) Restoration of mismatch repair to nuclear extracts of H6 colorectal tumour cells by a heterodimer of human MutL homologs. Proc Natl Acad Sci USA 92: 1950-1954
12. Lindblom A, Tannergard P, Werelius B, Nordenskjold M (1993) Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet 5 : 279-282
13. Liu B, Parsons RE, Hamilton SR, Petersen JM, 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
14. Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, Jass JR, Dunlop M, Wyllie A, Peltomaki P, De la Chapelle A, Hamilton SR, Vogelstein B, Kinzler KW (1996) Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 2 : 169-174
15. Luce MC, Binnie CG, Cayouette MC, Kam-Morgan LNW (1996) Identification of DNA mismatch repair gene mutations in hereditary nonpolyposis colon cancer patients. Int J Cancer 69 : 50-52
16. Lynch HT, Smyrk TC, Watson P, Lanspa SJ, Lynch JF, Lynch PM, Cavalieri RJ, Boland CR (1993) Genetics, natural history, tumor spectrum and pathology of hereditary nonpolyposis colorectal cancer; an updated review. Gastroenterology 104 : 1535-1549
17. Lynch HT, Smyrk T, Lynch J, Fitzgibbons Jr R, Lanspa S, McGinn T (1995) Update on the differential diagnosis, surveillance and management of hereditary non-polyposis colorectal cancer. Eur J Cancer 31 : 1039-1046
18. Maliaka YK, Chundina AP, Belev NF, Alday P, Bochkov NP, Buerstedde J-M (1996) CpG dinucleotides in the HMSH2 and hMLH1 genes are hotspots for HNPCC mutations. Hum Genet 97 : 251-255
19. Mecklin JP (1987) Frequency of hereditary colorectal carcinoma. Gastroenterology 93 : 1021-1025
20. Nicolaides NC, Papadopoulos BL, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Peterson GM, De la Chapelle A, Vogelstein B, Kinzler KW (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371 : 75-80
21. Palombo F, Gallinari P, Laccarino I, Lettieri T, Hughes M, D'Arrigo A, Truong O, Hsuan JJ, Jiricny J (1995) GTBP, A 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 268 : 1912-1914
22. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter C, Hamilton SR, Peterson GM, Watson P, Lynch HT, Peltomaki P, Mecklin JP, De la Chapelle A, Kinzler KW, Vogelstein B (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263 : 1625-1629
23. 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
24. Wijnen J, Meera Khan P, Vasen H, Menko F, Van der Klift H, Van der Broek M, Van Leeuwen-Cornelisse I, Nagengast F, Meijers-Heijboer EJ, Lindhout D, Griffionen G, Cats A, Kleibeuker J, Varesco L, Bertario L, Bisgaard M-L, Mohr J, Kolodner R, Fodde R (1996) Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. Am J Hum Genet 58 : 300-307