The continuing search for predisposing colorectal cancer variants

Cancer Genomics and Proteomics

Volumn 6, Issue 6, 2009, Pages 305-316

  Picelli, Simone ^a   Von Holst, Susanna ^a   Wessendorf, Petra ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

APC; Linkage disequilibrium; Penetrance; Polyposis; Review; Risk; SNP

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADENOMATOUS POLYP; CANCER INCIDENCE; CANCER PREVENTION; CANCER RISK; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; COWDEN SYNDROME; DISEASE COURSE; DNA REPAIR; ENVIRONMENTAL FACTOR; FAMILIAL POLYPOSIS; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HAMARTOMA; HEREDITY; HUMAN; MORBIDITY; PEUTZ JEGHERS SYNDROME; REVIEW; RISK ASSESSMENT; RISK FACTOR; SUPPRESSOR GENE;

EID: 76749124517     PISSN: 11096535     EISSN: 17906245     Source Type: Journal    
DOI: None     Document Type: Review

References (99)

1. Fearon ER and Vogelstein B: A genetic model for colorectal tumorigenesis. Cell 61: 759-767, 1990.
2. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A and Hemminki K: Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 343: 78-85, 2000.
3. Liljegren A, Lindblom A, Rotstein S, Nilsson B, Rubio C and Jaramillo E: Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps. Gut 52: 1140-1147, 2003.
4. Lindgren G, Liljegren A, Jaramillo E, Rubio C and Lindblom A: Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer. Gut 50: 228-234, 2002.
5. de la Chapelle A: Genetic predisposition to colorectal cancer. Nat Rev Cancer 4: 769-780, 2004.
6. Potter JD: Colorectal cancer: molecules and populations. J Natl Cancer Inst 91: 916-932, 1999.
7. Kinzler KW and Vogelstein B: Lessons from hereditary colorectal cancer. Cell 87: 159-170, 1996.
8. Gardner EJ and Richards RC: Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 5: 139-147, 1953.
9. Neklason DW, Stevens J, Boucher KM, Kerber RA, Matsunami N, Barlow J, Mineau G, Leppert MF and Burt RW: American founder mutation for attenuated familial adenomatous polyposis. Clin Gastroenterol Hepatol 6: 46-52, 2008.
10. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch H, watson P, Lynch P, Laurent-Puig p, Burt R, Hughes JP, Thomas G, Leppert M and White R: Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75: 951-7, 1993.
11. Giardiello FM, Brensinger JD, Petersen GM, Luce MC, Hylind LM, Bacon JA, Booker SV, Parker RD and Hamilton SR: The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 336: 823-827, 1997.
12. de la Chapelle A: The incidence of Lynch syndrome. Fam Cancer 4: 233-237, 2005.
13. Lynch HT and Krush AJ: Cancer family G revisited: 1895-1970. Cancer 27: 1505-1511, 1971.
14. Lynch HT, Smyrk TC, Watson P, Lanspa SJ, Lynch JF, Lynch PM, Cavalieri RJ and Boland CR: Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology 104: 1535-1549, 1993.
15. Lynch HT and Smyrk T: Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer 78: 1149-1167, 1996.
16. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomaki P, Mecklin JP and Jarvinen HJ: Cancer risk in mutation carriers of DNA mismatch-repair genes. Int J Cancer 81: 214-218, 1999.
17. Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, Mecklin JP and de la Chapelle A: Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 129: 415-421, 2005.
18. Peltomaki P: Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 21: 1174-1179, 2003.
19. Hendriks YM, Jagmohan-Changur S, van der Klift HM, Morreau H, van Puijenbroek M, Tops C, van Os T, Wagner A, Ausems MG, Gomez E, Breuning MH, Brocker-Vriends AH, Vasen HF and Wijnen JT: Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology 130: 312-322, 2006.
20. Schwartz RA and Torre DP: The Muir-Torre syndrome: a 25-year retrospect. J Am Acad Dermatol 33: 90-104, 1995.
21. Misago N and Narisawa Y: Sebaceous neoplasms in Muir-Torre syndrome. Am J Dermatopathol 22: 155-161, 2000.
22. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ and Tomlinson IP: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 348: 791-799, 2003.
23. Cheng KC, Cahill DS, Kasai H, Nishimura S and Loeb LA: 8-Hydroxyguanine, an abundant form of oxidative DNA damage, causes G→T and A→C substitutions. J Biol Chem 267: 166-172, 1992.
24. Shibutani S, Takeshita M and Grollman AP: Insertion of specific bases during DNA synthesis past the oxidation-damaged base 8-oxodG. Nature 349: 431-434, 1991.
25. Slupska MM, Baikalov C, Luther WM, Chiang JH, Wei YF and Miller JH: Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J Bacteriol 178: 3885-3892, 1996.
26. Slupska MM, Luther WM, Chiang JH, Yang H and Miller JH: Functional expression of hMYH, a human homolog of the Escherichia coli MutY protein. J Bacteriol 181: 6210-6213, 1999.
27. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR and Cheadle JP: Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet 30: 227-232, 2002.
28. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M and Offerhaus JA: Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 119: 1447-1153, 2000.
29. Jaeger E, Webb E, Howarth K, Carvajal-Carmona L, Rowan A, Broderick P, Walther A, Spain S, Pittman A, Kemp Z, Sullivan K, Heinimann K, Lubbe S, Domingo E, Barclay E, Martin L, Gorman M, Chandler I, Vijayakrishnan J, Wood W, Papaemmanuil E, Penegar S, Qureshi M, Farrington S, Tenesa A, Cazier JB, Kerr D, Gray R, Peto J, Dunlop M, Campbell H, Thomas H, Houlston R and Tomlinson I: Common genetic variants at the CRACl (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet 40: 26-28, 2008.
30. Koessler T, Oestergaard MZ, Song H, Tyrer J, Perkins B, Dunning A, Easton D and Pharoah PP: Common variants in mismatch repair genes and risk of colorectal cancer. Gut 57: 1097-1101, 2008.
31. Berndt SI, Platz EA, Fallin MD, Thuita LW, Hoffman SC and Helzlsouer KJ: Mismatch repair polymorphisms and the risk of colorectal cancer. Int J Cancer 120: 1548-1554, 2007.
32. Lindblom A, Tannergard P, Werelius B and Nordenskjold M: Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet 5: 279-282, 1993.
33. Bodmer WF, Bailey CJ, Bodmer J, Bussey HJ, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, Solomon SE and Spurr NK: Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328: 614-616, 1987.
34. Peltomaki P, Aaltonen LA, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, Green JS, Jass JR, Weber JL, Leach FS, Petersen GM, Hamilton SR, de la Chapelle A and Vogelstein B: Genetic mapping of a locus predisposing to human colorectal cancer. Science 260: 810-812, 1993.
35. Polychronakos C: Common and rare alleles as causes of complex phenotypes. Curr Atheroscler Rep 10: 194-200, 2008.
36. Djureinovic T, Skoglund J, Vandrovcova J, Zhou XL, Kalushkova A, Iselius L and Lindblom A: A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer. Gut 55: 362-366, 2006.
37. Kemp Z, Carvajal-Carmona L, Spain S, Barclay E, Gorman M, Martin L, Jaeger E, Brooks N, Bishop DT, Thomas H, Tomlinson I, Papaemmanuil E, Webb E, Sellick GS, Wood W, Evans G, Lucassen A, Maher ER and Houlston RS: Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan. Hum Mol Genet 15: 2903-2910, 2006.
38. Kemp ZE, Carvajal-Carmona LG, Barclay E, Gorman M, Martin L, Wood W, Rowan A, Donohue C, Spain S, Jaeger E, Evans DG, Maher ER, Bishop T, Thomas H, Houlston R and Tomlinson I: Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom. Cancer Res 66: 5003-5006, 2006.
39. Picelli S, Vandrovcova J, Jones S, Djureinovic T, Skoglund J, Zhou XL, Velculescu VE, Vogelstein B and Lindblom A: Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q. BMC Cancer 8: 87, 2008.
40. Wiesner GL, Daley D, Lewis S, Ticknor C, Platzer P, Lutterbaugh J, MacMillen M, Baliner B, Willis J, Elston RC and Markowitz SD: A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2. Proc Natl Acad Sci USA 100: 12961-12965, 2003.
41. Olsson L and Lindblom A: Family history of colorectal cancer in a Sweden county. Fam Cancer 2: 87-93, 2003.
42. Zanke BW, Greenwood CM, Rangrej J, Kustra R, Tenesa A, Farrington SM, Prendergast J, Olschwang S, Chiang T, Crowdy E, Ferretti V, Laflamme P, Sundararajan S, Roumy S, Olivier JF, Robidoux F, Sladek R, Montpetit A, Campbell P, Bezieau S, O'Shea AM, Zogopoulos G, Cotterchio M, Newcomb P, McLaughlin J, Younghusband B, Green R, Green J, Porteous ME, Campbell H, Blanche H, Sahbatou M, Tubacher E, Bonaiti-Pellie C, Buecher B, Riboli E, Kury S, Chanock SJ, Potter J, Thomas G, Gallinger S, Hudson TJ and Dunlop MG: Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet 39: 989-994, 2007.
43. Haiman CA, Patterson N, Freedman ML, Myers SR, Pike MC, Waliszewska A, Neubauer J, Tandon A, Schirmer C, McDonald GJ, Greenway SC, Stram DO, Le Marchand L, Kolonel LN, Frasco M, Wong D, Pooler LC, Ardlie K, Oakley-Girvan I, Whittemore AS, Cooney KA, John EM, Ingles SA, Altshuler D, Henderson BE and Reich D: Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet 39: 638-644, 2007.
44. Tomlinson I, Webb E, Carvajal-Carmona L, Broderick P, Kemp Z, Spain S, Penegar S, Chandler I, Gorman M, Wood W, Barclay E, Lubbe S, Martin L, Sellick G, Jaeger E, Hubner R, Wild R, Rowan A, Fielding S, Howarth K, Silver A, Atkin W, Muir K, Logan R, Kerr D, Johnstone E, Sieber O, Gray R, Thomas H, Peto J, Cazier JB and Houlston R: A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 39: 984-988, 2007.
45. Tuupanen S, Turunen M, Lehtonen R, Hallikas O, Vanharanta S, Kivioja T, Bjorklund M, Wei G, Yan J, Niittymaki I, Mecklin JP, Jarvinen H, Ristimaki A, Di-Bernardo M, East P, Carvajal-Carmona L, Houlston RS, Tomlinson I, Palin K, Ukkonen E, Karhu A, Taipale J and Aaltonen LA: The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet 41: 868-869, 2009.
46. Tomlinson IP, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, Spain S, Lubbe S, Walther A, Sullivan K, Jaeger E, Fielding S, Rowan A, Vijayakrishnan J, Domingo E, Chandler I, Kemp Z, Qureshi M, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Penegar S, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop DT, Gray R, Maher ER, Lucassen A, Kerr D, Evans DG, Schafmayer C, Buch S, Volzke H, Hampe J, Schreiber S, John U, Koessler T, Pharoah P, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellvi-Bel S, Ruiz-Ponte C, Carracedo A, Castells A, Forsti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agundez JA, Ladero JM, de la Hoya M, Caldes T, Niittymaki I, Tuupanen S, Karhu A, Aaltonen L, Cazier JB, Campbell H, Dunlop MG and Houlston RS: A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 40: 623-630, 2008.
47. Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I and Houlston RS: A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 39: 1315-1317, 2007.
48. ten Dijke P and Hill CS: New insights into TGF-beta-Smad signalling. Trends Biochem Sci 29: 265-273, 2004.
49. Gaasenbeek M, Howarth K, Rowan AJ, Gorman PA, Jones A, Chaplin T, Liu Y, Bicknell D, Davison EJ, Fiegler H, Carter NP, Roylance RR and Tomlinson IP: Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers. Cancer Res 66: 3471-3479, 2006.
50. Pittman AM, Naranjo S, Webb E, Broderick P, Lips EH, van Wezel T, Morreau H, Sullivan K, Fielding S, Twiss P, Vijayakrishnan J, Casares F, Qureshi M, Gomez-Skarmeta JL and Houlston RS: The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression. Genome Res 19: 987-993, 2009.
51. Tenesa A, Farrington SM, Prendergast JG, Porteous ME, Walker M, Haq N, Barnetson RA, Theodoratou E, Cetnarskyj R, Cartwright N, Semple C, Clark AJ, Reid FJ, Smith LA, Kavoussanakis K, Koessler T, Pharoah PD, Buch S, Schafmayer C, Tepel J, Schreiber S, Volzke H, Schmidt CO, Hampe J, Chang-Claude J, Hoffmeister M, Brenner H, Wilkening S, Canzian F, Capella G, Moreno V, Deary IJ, Starr JM, Tomlinson IP, Kemp Z, Howarth K, Carvajal-Carmona L, Webb E, Broderick P, Vijayakrishnan J, Houlston RS, Rennert G, Ballinger D, Rozek L, Gruber SB, Matsuda K, Kidokoro T, Nakamura Y, Zanke BW, Greenwood CM, Rangrej J, Kustra R, Montpetit A, Hudson TJ, Gallinger S, Campbell H and Dunlop MG: Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet 40: 631-637, 2008.
52. Jaeger EE, Woodford-Richens KL, Lockett M, Rowan AJ, Sawyer EJ, Heinimann K, Rozen P, Murday VA, Whitelaw SC, Ginsberg A, Atkin WS, Lynch HT, Southey MC, Debinski H, Eng C, Bodmer WF, Talbot IC, Hodgson SV, Thomas HJ and Tomlinson IP: An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. Am J Hum Genet 72: 1261-1267, 2003.
53. Tomlinson I, Rahman N, Frayling I, Mangion J, Barfoot R, Hamoudi R, Seal S, Northover J, Thomas HJ, Neale K, Hodgson S, Talbot I, Houlston R and Stratton MR: Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. Gastroenterology 116: 789-795,1999.
54. Valle L, Serena-Acedo T, Liyanarachchi S, Hampel H, Comeras I, Li Z, Zeng Q, Zhang HT, Pennison MJ, Sadim M, Pasche B, Tanner SM and de la Chapelle A: Germline allele-specific expression of TGFBRl confers an increased risk of colorectal cancer. Science 321: 1361-1365, 2008.
55. Houlston RS, Webb E, Broderick P, Pittman AM, Di Bernardo MC, Lubbe S, Chandler I, Vijayakrishnan J, Sullivan K, Penegar S, Carvajal-Carmona L, Howarth K, Jaeger E, Spain SL, Walther A, Barclay E, Martin L, Gorman M, Domingo E, Teixeira AS, Kerr D, Cazier JB, Niittymaki I, Tuupanen S, Karhu A, Aaltonen LA, Tomlinson IP, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Cetnarskyj R, Porteous ME, Pharoah PD, Koessler T, Hampe J, Buch S, Schafmayer C, Tepel J, Schreiber S, Volzke H, Chang-Claude J, Hoffmeister M, Brenner H, Zanke BW, Montpetit A, Hudson TJ, Gallinger S, Campbell H and Dunlop MG: Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 40: 1426-1435, 2008.
56. Kim JS, Crooks H, Dracheva T, Nishanian TG, Singh B, Jen J and Waldman T: Oncogenic beta-catenin is required for bone morphogenetic protein 4 expression in human cancer cells. Cancer Res 62: 2744-2748, 2002.
57. He XC, Zhang J, Tong WG, Tawfik O, Ross J, Scoville DH, Tian Q, Zeng X, He X, Wiedemann LM, Mishina Y and Li L: BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling. Nat Genet 36: 1117-1121, 2004.
58. Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G and Vogelstein B: Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 28: 184-187, 2001.
59. Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Jarvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP and Eng C: Germline mutations in BMPRIAlALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley- Ruvalcaba syndromes. Am J Hum Genet 69: 704-711, 2001.
60. Peck JW, Oberst M, Bouker KB, Bowden E and Burbelo PD: The RhoA-binding protein, rhophilin-2, regulates actin cytoskeleton organization. J Biol Chem 277: 43924-43932, 2002.
61. Bellovin DI, Simpson KJ, Danilov T, Maynard E, Rimm DL, Oettgen P and Mercurio AM: Reciprocal regulation of RhoA and RhoC characterizes the EMT and identifies RhoC as a prognostic marker of colon carcinoma. Oncogene 25: 6959-6967, 2006.
62. Wheeler JM, Kim HC, Efstathiou JA, Ilyas M, Mortensen NJ and Bodmer WF: Hypermethylation of the promoter region of the E-cadherin gene (CDH1) in sporadic and ulcerative colitis associated colorectal cancer. Gut 48: 367-371, 2001.
63. Risch N and Merikangas K: The future of genetic studies of complex human diseases. Science 273: 1516-1517, 1996.
64. Bodmer W: Familial adenomatous polyposis (FAP) and its gene, APC. Cytogenet Cell Genet 86: 99-104, 1999.
65. 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 and Tomlinson IP: The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci USA 95: 10722-10727, 1998.
66. Hanahan D and Weinberg RA: The hallmarks of cancer. Cell 100: 57-70, 2000.
67. The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 306: 636-640, 2004.
68. Gorlov IP, Gorlova OY, Sunyaev SR, Spitz MR and Amos CI: Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 82: 100-112, 2008.
69. Bodmer W and Bonilla C: Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40: 695-701, 2008.
70. Denecke J, Kranz C, von Kleist-Retzow J, Bosse K, Herkenrath P, Debus O, Harms E and Marquardt T: Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. Pediatr Res 58: 248-253, 2005.
71. Pfarr N, Prawitt D, Kirschfink M, Schroff C, Knuf M, Habermehl P, Mannhardt W, Zepp F, Fairbrother W, Loos M, Burge CB and Pohlenz J: Linking C5 deficiency to an exonic splicing enhancer mutation. J Immunol 174: 4172-4177, 2005.
72. Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD and Triggs-Raine BL: Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. Am J Med Genet A 127A: 158-166, 2004.
73. Xie J, Pabon D, Jayo A, Butta N and Gonzalez-Manchon C: Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA. Thromb Haemost 93: 897-903, 2005.
74. Fearnhead NS, Wilding JL, Winney B, Tonks S, Bartlett S, Bicknell DC, Tomlinson IP, Mortensen NJ and Bodmer WF: Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci USA 101: 15992-15997, 2004.
75. Fearnhead NS, Winney B and Bodmer WF: Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model. Cell Cycle 4: 521-525, 2005.
76. Kryukov GV, Pennacchio LA and Sunyaev SR: Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 80: 727-739, 2007.
77. Hirschhorn JN and Altshuler D: Once and again-issues surrounding replication in genetic association studies. J Clin Endocrinol Metab 87: 4438-4441, 2002.
78. Felix R, Bodmer W, Fearnhead NS, van der Merwe L, Goldberg P and Ramesar RS: GSTMI and GSTTI polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation. Mutat Res 602: 175-181, 2006.
79. Webb EL, Rudd MF, Sellick GS, El Galta R, Bethke L, Wood W, Fletcher O, Penegar S, Withey L, Qureshi M, Johnson N, Tomlinson I, Gray R, Peto J and Houlston RS: Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14704 first-degree relatives. Hum Mol Genet 75: 3263-3271, 2006.
80. Houlston RS and Tomlinson IP: Polymorphisms and colorectal tumor risk. Gastroenterology 121: 282-301, 2001.
81. Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, Offit K, Luce MC, Kinzler KW and Vogelstein B: Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17: 79-83, 1997.
82. Woodage T, King SM, Wacholder S, Hartge P, Struewing JP, McAdams M, Laken SJ, Tucker MA and Brody LC: The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet 20: 62-65, 1998.
83. Gryfe R, Di Nicola N, Lal G, Gallinger S and Redston M: Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. Am J Hum Genet 64: 378-384, 1999.
84. Krontiris TG, Devlin B, Karp DD, Robert NJ and Risch N: An association between the risk of cancer and mutations in the HRASI minisatellite locus. N Engl J Med 329: 517-523, 1993.
85. Krontiris TG, DiMartino NA, Colb M, Mitcheson HD and Parkinson DR: Human restriction fragment length polymorphisms and cancer risk assessment. J Cell Biochem 30: 319-329, 1986.
86. Wyllie FS, Wynford-Thomas V, Lemoine NR, Williams GT, Williams ED and Wynford-Thomas D: Ha-ras restriction fragment length polymorphisms in colorectal cancer. Br J Cancer 57: 135-138, 1988.
87. Klingel R, Mittelstaedt P, Dippold WG and Meyer zum Buschenfelde KH: Distribution of Ha-ras alleles in patients with colorectal cancer and Crohn's disease. Gut 32: 1508-1513, 1991.
88. Gosse-Brun S, Sauvaigo S, Daver A, Larra F, Kwiatkowski F, Bignon YJ and Bernard-Gallon D: Association between H-ras minisatellite and colorectal cancer risk. Anticancer Res 18: 2611-2616, 1998.
89. Ceccherini-Nelli L, De Re V, Viel A, Molaro G, Zilli L, Clemente C and Boiocchi M: Ha-ras-1 restriction fragment length polymorphism and susceptibility to colon adenocarcinoma. Br J Cancer 56: 1-5, 1987.
90. Toyota M, Ahuja N, Ohe-Toyota M, Herman JG, Baylin SB and Issa JP: CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci USA 96: 8681-8686, 1999.
91. Breivik J and Gaudernack G: Genomic instability, DNA methylation, and natural selection in colorectal carcinogenesis. Semin Cancer Biol 9: 245-254, 1999.
92. Kim YI, Pogribny IP, Salomon RN, Choi SW, Smith DE, James SJ and Mason JB: Exon-specific DNA hypomethylation of the p53 gene of rat colon induced by dimethylhydrazine. Modulation by dietary folate. Am J Pathol 149: 1129-1137, 1996.
93. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J and Rozen R: Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93: 7-9, 1996.
94. Slattery ML, Potter JD, Samowitz W, Schaffer D and Leppert M: Methylenetetrahydrofolate reductase, diet, and risk of colon cancer. Cancer Epidemiol Biomarkers Prev 8: 513-518, 1999.
95. Park KS, Mok JW and Kim JC: The 677C>T mutation in 5,10-methylenetetrahydrofolate reductase and colorectal cancer risk. Genet Test 3: 233-236, 1999.
96. Ma J, Stampfer MJ, Giovannucci E, Artigas C, Hunter DJ, Fuchs C, Willett WC, Selhub J, Hennekens CH and Rozen R: Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res 57: 1098-1102, 1997.
97. Chen J, Giovannucci E, Kelsey K, Rimm EB, Stampfer MJ, Colditz GA, Spiegelman D, Willett WC and Hunter DJ: A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res 56: 4862-4864, 1996.
98. Chen J, Giovannucci E, Hankinson SE, Ma J, Willett WC, Spiegelman D, Kelsey KT and Hunter DJ: A prospective study of methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms, and risk of colorectal adenoma. Carcinogenesis 19: 2129-2132, 1998.
99. Scott RJ: Modifier genes and HNPCC: variable phenotypic expression in HNPCC and the search for modifier genes. Eur J Hum Genet 16: 531-532, 2008.