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  • 1
    Houlston RS, Collins A, Slack J, Morton NE. Dominant genes for colorectal cancer are not rare. Ann Hum Genet 1992; 56: 99103.
  • 2
    Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66: 589600.
  • 3
    Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991; 253: 6659.
  • 4
    Spirio L, Otterud B, Stauffer D, Lynch H, Lynch P, Watson P, Lanspa S, Smyrk T, Cavalieri J, Howard L, Burt R, White R, et al. Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. Am J Hum Genet 1992; 51: 92100.
  • 5
    Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch H, Watson P, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993; 75: 9517.
  • 6
    Van der Luijt RB, Vasen HF, Tops CM, Breukel C, Fodde R, Meera Khan P. APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis. Hum Genet 1995; 96: 70510.
  • 7
    Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z, Bapat B. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 1998; 62: 1290301.
  • 8
    Peltomaki P, Vasen HF. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 1997; 113: 114658.
  • 9
    Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999; 36: 80118.
  • 10
    Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, Guan X-Y, Zhang J, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993; 75: 121525.
  • 11
    Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1994; 77: 167.
  • 12
    Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergärd P, Bollag RJ, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994; 368: 25861.
  • 13
    Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter C, Hamilton S, et al. Mutation of a mutL homolog in hereditary colon cancer. Science 1994; 263: 16259.
  • 14
    Wijnen J, de Leeuw W, Vasen H, van der Klift H, Moller P, Stormorken A, Meijers-Heijboer H, Lindhout D, Menko F, Vossen S, Moslein G, Tops C, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999; 23: 1424.
  • 15
    Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, Chadwick RB, Kaariainen H, Eskelinen M, Jarvinen H, Mecklin JP, de la Chapelle A. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998; 338: 14817.
  • 16
    Lindgren G, Liljegren A, Jaramillo E, Rubio C, Lindblom A. Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer. Gut 2002; 50: 22834.
  • 17
    Fuchs CS, Giovannucci EL, Colditz GA, Hunter DJ, Speizer FE, Willett WC. A prospective study of family history and the risk of colorectal cancer. N Engl J Med 1994; 331: 166974.
  • 18
    Lovett E. Family studies in cancer of the colon and rectum. Br J Surg 1976; 63: 1318.
  • 19
    Houlston RS, Murday V, Harocopos C, Williams CB, Slack J. Screening and genetic counselling for relatives of patients with colorectal cancer in a family cancer clinic. BMJ 1990; 301: 3668.
  • 20
    St John DJ, McDermott FT, Hopper JL, Debney EA, Johnson WR, Hughes ES. Cancer risk in relatives of patients with common colorectal cancer. Ann Intern Med 1993; 118: 78590.
  • 21
    Liu HX, Zhou XL, Liu T, Werelius B, Lindmark G, Dahl N, Lindblom A. The role of hMLH3 in familial colorectal cancer. Cancer Res 2003; 63: 18949.
  • 22
    Liu T, Tannergard P, Hackman P, Rubio C, Kressner U, Lindmark G, Hellgren D, Lambert B, Lindblom A. Missense mutations in hMLH1 associated with colorectal cancer. Hum Genet 1999; 105: 43741.
  • 23
    Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP. Inherited variants of MYH associated with somatic G:C[RIGHTWARDS ARROW]T:A mutations in colorectal tumors. Nat Genet 2002; 30: 22732.
  • 24
    Jones S, Emmerson P, Maynard J, Best JM, Jordan S, Williams GT, Sampson JR, Cheadle JP. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C[RIGHTWARDS ARROW]T:A mutations. Hum Mol Genet 2002; 11: 29617.
  • 25
    Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348: 7919.
  • 26
    Halford SE, Rowan AJ, Lipton L, Sieber OM, Pack K, Thomas HJ, Hodgson SV, Bodmer WF, Tomlinson IP. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol 2003; 162: 15458.
  • 27
    Wahlberg S, Liu T, Lindblom P, Lindblom A. Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1. Genet Test 1999; 3: 25964.
  • 28
    Huang J, Kuismanen SA, Liu T, Chadwick RB, Johnson CK, Stevens MW, Richards SK, Meek JE, Gao X, Wright FA, Mecklin JP, Jarvinen HJ, et al. MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. Cancer Res 2001; 61: 161923.
  • 29
    Olschwang S, Laurent-Puig P, Groden J, White R, Thomas G. Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am J Hum Genet 1993; 52: 2739.
  • 30
    Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen GM, Vogelstein B, Maher E, Ogawa M, Maruyama M, Utsunomiya J, Baba S, Nakamura Y. Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutat 1992; 1: 46773.
  • 31
    Frayling IM, Beck NE, Ilyas M, Dove-Edwin I, Goodman P, Pack K, Bell JA, Williams CB, Hodgson SV, Thomas HJ, Talbot IC, Bodmer WF, et al. The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci USA 1998; 95: 107227.
  • 32
    Lamlum H, Al Tassan N, Jaeger E, Frayling I, Sieber O, Reza FB, Eckert M, Rowan A, Barclay E, Atkin W, Williams C, Gilbert J, et al. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Hum Mol Genet 2000; 9: 221521.
  • 33
    White S, Bubb VJ, Wyllie AH. Germline APC mutation (Gln1317) in a cancer-prone family that does not result in familial adenomatous polyposis. Genes Chromosomes Cancer 1996; 15: 1228.
  • 34
    Powell SM, Zilz N, Beazer-Barclay Y, Bryan TM, Hamilton SR, Thibodeau SN, Vogelstein B, Kinzler KW. APC mutations occur early during colorectal tumorigenesis. Nature 1992; 359: 2357.
  • 35
    Wallis YL, Morton DG, McKeown CM, Macdonald F. Molecular analysis of the APC gene in 205 families: extended genotype- phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 1999; 36: 1420.
  • 36
    Ruiz-Ponte C, Vega A, Carracedo A, Barros F. Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer. Hum Mutat 2001; 18: 355.
  • 37
    Miyoshi Y, Ando H, Nagase H, Nishisho I, Horii A, Miki Y, Mori T, Utsunomiya J, Baba S, Petersen G, Hamilton SR, Kinzler KW, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992; 89: 44526.
  • 38
    Walon C, Kartheuser A, Michils G, Smaers M, Lannoy N, Ngounou P, Mertens G, Verellen-Dumoulin C. Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds. Hum Genet 1997; 100: 6015.
  • 39
    Liu HX, Cartegni L, Zhang MQ, Krainer AR. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 2001; 27: 558.
  • 40
    Montera M, Piaggio F, Marchese C, Gismondi V, Stella A, Resta N, Varesco L, Guanti G, Mareni C. A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family. J Med Genet 2001; 38: 8637.
  • 41
    Boardman LA, Schmidt S, Lindor NM, Burgart LJ, Cunningham JM, Price-Troska T, Snow K, Ahlquist DA, Thibodeau SN. A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair. Genes Chromosomes Cancer 2001; 30: 1816.
  • 42
    Figer A, Irmin L, Geva R, Flex D, Sulkes A, Friedman E. Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer. Br J Cancer 2001; 85: 5236.
  • 43
    Joyce JA, Froggatt NJ, Davies R, Evans DG, Trembath R, Barton DE, Maher ER. Molecular genetic analysis of exons 1 to 6 of the APC gene in non- polyposis familial colorectal cancer. Clin Genet 1995; 48: 299303.
  • 44
    Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 2002; 31: 336.
  • 45
    Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997; 17: 7983.
  • 46
    Woodage T, King SM, Wacholder S, Hartge P, Struewing JP, McAdams M, Laken SJ, Tucker MA, Brody LC. The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet 1998; 20: 625.
  • 47
    Heinimann K, Thompson A, Locher A, Furlanetto T, Bader E, Wolf A, Meier R, Walter K, Bauerfeind P, Marra G, Muller H, Foernzler D, et al. Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis. Cancer Res 2001; 61: 761622.
  • 48
    Evertsson S, Lindblom A, Sun XF. APC I1307K and E1317Q variants are rare or do not occur in Swedish colorectal cancer patients. Eur J Cancer 2001; 37: 499502.
  • 49
    Slattery ML, Samowitz W, Ballard L, Schaffer D, Leppert M, Potter JD. A molecular variant of the APC gene at codon 1822: its association with diet, lifestyle, and risk of colon cancer. Cancer Res 2001; 61: 10004.
  • 50
    Pesole G, Liuni S, Grillo G, Licciulli F, Mignone F, Gissi C, Saccone C. UTRdb and UTRsite: specialized databases of sequences and functional elements of 5′ and 3′ untranslated regions of eukaryotic mRNAs. Update 2002. Nucleic Acids Res 2002; 30: 33540.
  • 51
    Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000; 405: 84756.