Risk profiling: Familial colorectal cancer

Cancer Forum

Volumn 38, Issue 1, 2014, Pages 15-25

  Win, Aung Ko ^a   Ouakrim, Driss Ait ^a   Jenkins, Mark A ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; DNA GLYCOSYLASE MUTY; PROTEIN KINASE LKB1;

AUSTRALIA; CANADA; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; COLON POLYPOSIS; COLONOSCOPY; COLORECTAL CANCER; ENVIRONMENTAL FACTOR; FAMILIAL COLON POLYPOSIS; FAMILY HISTORY; GENE MUTATION; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; GERMLINE MUTATION; HEREDITARY COLORECTAL CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HEREDITY; HUMAN; MEDICAL RESEARCH; MISMATCH REPAIR; MOLECULAR PHYLOGENY; NEW ZEALAND; PRACTICE GUIDELINE; PREDICTION; REVIEW; RISK FACTOR;

EID: 84899683902     PISSN: 0311306X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (94)

1. Australian Institute of Health and Welfare (AIHW). Australian Cancer Incidence and Mortality: Bowel Cancer.Canberra: AIHW; 2014.
2. Johns LE, Houlston RS. A systematic review and meta-analysis of familial colorectal cancer risk. Am J Gastroenterol. 2001;96(10):2992-3003. (Pubitemid 32959544)
3. Baglietto L, Jenkins MA, Severi G, Giles GG, Bishop DT, Boyle P, et al. Measures of familial aggregation depend on definition of family history: meta-analysis for colorectal cancer. J Clin Epidemiol. 2006;59(2):114-124. (Pubitemid 43111615)
4. Taylor DP, Burt RW, Williams MS, Haug PJ, Cannon-Albright LA. Population-Based Family History-Specific Risks for Colorectal Cancer: A Constellation Approach. Gastroenterology. 2010;138(3):877-885.
5. 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(25):1669-1674. (Pubitemid 24373618)
6. Australian Cancer Network Colorectal Cancer Guidelines Revision Committee. Clinical practice guidelines for the prevention, early detection and management of colorectal cancer. Sydney: The Cancer Council Australia and Australian Cancer Network; 2005.
7. New Zealand Guidelines Group. Guidance on surveillance for people at increased risk of colorectal cancer. Wellington: New Zealand Guidelines Group; 2011.
8. Levin B, Lieberman DA, McFarland B, Smith RA, Brooks D, Andrews KS, et al. Screening and Surveillance for the Early Detection of Colorectal Cancer and Adenomatous Polyps, 2008: A Joint Guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. CA Cancer J Clin. 2008;58(3):130-160. (Pubitemid 351830299)
9. Colorectal cancer screening. Recommendation statement from the Canadian Task Force on Preventive Health Care. CMAJ. 2001;165(2):206-208.
10. Leddin D, Hunt R, Champion M, Cockeram A, Flook N, Gould M, et al. Canadian Association of Gastroenterology and the Canadian Digestive Health Foundation: Guidelines on colon cancer screening. Can J Gastroenterol. 2004;18(2):93-99. (Pubitemid 38418034)
11. Leddin DJ, Enns R, Hilsden R, Plourde V, Rabeneck L, Sadowski DC, et al. Canadian Association of Gastroenterology position statement on screening individuals at average risk for developing colorectal cancer: 2010. Can J Gastroenterol. 2010;24(12):705-714.
12. Cairns SR, Scholefield JH, Steele RJ, Dunlop MG, Thomas HJ, Evans GD, et al. Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002). Gut. 2010;59(5):666-689.
13. Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum Mol Genet. 2001;10(7):721-733. (Pubitemid 32331581)
14. Vasen HFA. Clinical Diagnosis and Management of Hereditary Colorectal Cancer Syndromes. J Clin Oncol. 2000;18(suppl-1):81s-92.
15. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, et al. Inherited variants of MYH associated with somatic G:C - >T:A mutations in colorectal tumors. Nat Genet. 2002;30(2):227.
16. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med. 1987;316(24):1511-1514. (Pubitemid 17076235)
17. Haidle JL, Howe JR. Juvenile Polyposis Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. Gene Reviews. Seattle, WA: University of Washington, Seattle; 1993-.
18. Mallory SB. Cowden syndrome (multiple hamartoma syndrome). Dermatol Clin. 1995;13(1):27-31.
19. Aaltonen LA, Sankila R, Mecklin JP, Jarvinen H, Pukkala E, Peltomaki P, et al. A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden. Cancer Detect Prev. 1994;18(1):57-63. (Pubitemid 2047298)
20. Burt RW, DiSario JA, Cannon-Albright L. Genetics of colon cancer: impact of inheritance on colon cancer risk. Annu Rev Med. 1995;46:371-379.
21. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer. J Clin Oncol. 2008;26(35):5783-5788.
22. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer). N Engl J Med. 2005;352(18):1851-1860.
23. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet. 1999;36(11):801-818. (Pubitemid 29520569)
24. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med. 1998;338(21):1481-1487. (Pubitemid 28226275)
25. de la Chapelle A. The incidence of Lynch syndrome. Fam Cancer. 2005;4(3):233-237.
26. Salovaara R, Loukola A, Kristo P, Kaariainen H, Ahtola H, Eskelinen M, et al. Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer. J Clin Oncol. 2000;18(11):2193-2200. (Pubitemid 30350210)
27. Hopper JL. Application of genetics to the prevention of colorectal cancer. Recent Results Cancer Res. 2005;166:17-33.
28. Rustgi AK. The genetics of hereditary colon cancer. Genes Dev. 2007;21(20):2525-2538. (Pubitemid 47607664)
29. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat. 1994;3(2):121-125. (Pubitemid 24077228)
30. Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology. 1991;100(6):1658-1664.
31. Vasen HF, Moslein G, Alonso A, Aretz S, Bernstein I, Bertario L, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57(5):704-713. (Pubitemid 351579987)
32. Jass JR. Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term. World J Gastroenterol. 2006;12(31):4943-4950. (Pubitemid 44323261)
33. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263(5153):1625-1629. (Pubitemid 24128369)
34. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 1993;75(6):1215-1225. (Pubitemid 24006117)
35. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet. 1997;17(3):271-272.
36. Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res. 1997;57(18):3920-3923. (Pubitemid 27427676)
37. Nicolaides NC, Papadopoulos N, Liu B, Weit Y-F, Carter KC, Ruben SM, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994;371(6492):75-80. (Pubitemid 24277467)
38. Hendriks YM, Jagmohan-Changur S, van der Klift HM, Morreau H, van Puijenbroek M, Tops C, et al. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology. 2006;130(2):312-322. (Pubitemid 43202031)
39. Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet. 2009;41(1):112-117.
40. Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat. 2009;30(2):197-203.
41. Hampel H, de la Chapelle A. The Search for Unaffected Individuals with Lynch Syndrome: Do the Ends Justify the Means? Cancer Prev Res. 2011;4(1):1-5.
42. Dunlop MG, Farrington SM, Nicholl I, Aaltonen L, Petersen G, Porteous M, et al. Population carrier frequency of hMSH2 and hMLH1 mutations. Br J Cancer. 2000;83(12):1643-1645. (Pubitemid 32001707)
43. Umar A, Boland CR, Terdiman JP, Syngal S, Chapelle Adl, Ruschoff J, et al. Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability. J Natl Cancer Inst. 2004;96(4):261-268. (Pubitemid 38256271)
44. Kastrinos F, Mukherjee B, Tayob N, Wang F, Sparr J, Raymond VM, et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA. 2009;302(16):1790-1795.
45. Win AK, Young JP, Lindor NM, Tucker K, Ahnen D, Young GP, et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol. 2012;30(9):958-964.
46. Bauer C, Ray A, Halstead-Nussloch B, Dekker R, Raymond V, Gruber S, et al. Hereditary prostate cancer as a feature of Lynch Syndrome. Fam Cancer. 2011;10(1):37-42.
47. Grindedal EM, Moller P, Eeles R, Stormorken AT, Bowitz-Lothe IM, Landro SM, et al. Germ-line mutations in mismatch repair genes associated with prostate cancer. Cancer Epidemiol Biomarkers Prev. 2009;18(9):2460-2467.
48. Raymond VM, Mukherjee B, Wang F, Huang SC, Stoffel EM, Kastrinos F, et al. Elevated Risk of Prostate Cancer Among Men With Lynch Syndrome. J Clin Oncol. 2013;31(14):1713-1718.
49. Ryan S, Jenkins MA, Win AK. Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis. Cancer Epidemiol Biomarkers Prev. 2014;In Press.
50. Walsh MD, Buchanan DD, Cummings MC, Pearson SA, Arnold ST, Clendenning M, et al. Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry. Clin Cancer Res. 2010;16(7):2214-2224.
51. Win AK, Lindor NM, Young JP, Macrae FA, Young GP, Williamson E, et al. Risks of primary extracolonic cancers following colorectal cancer in Lynch syndrome. J Natl Cancer Inst. 2012;104(18):1363-1372.
52. Win AK, Lindor NM, Winship I, Tucker KM, Buchanan DD, Young JP, et al. Risks of Colorectal and Other Cancers After Endometrial Cancer for Women With Lynch Syndrome. J Natl Cancer Inst. 2013;105(4):274-279.
53. Dowty JG, Win AK, Buchanan DD, Lindor NM, Macrae FA, Clendenning M, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat. 2013;34(3):490-497.
54. Lindor NM, Petersen GM, Hadley DW, Kinney AY, Miesfeldt S, Lu KH, et al. Recommendations for the Care of Individuals With an Inherited Predisposition to Lynch Syndrome: A Systematic Review. JAMA. 2006;296(12):1507-1517. (Pubitemid 44465515)
55. Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M, et al. Association Between Biallelic and Monoallelic Germline MYH Gene Mutations and Colorectal Cancer Risk. J Natl Cancer Inst. 2004;96(21):1631-1634. (Pubitemid 39534887)
56. Win AK, Hopper JL, Jenkins MA. Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis. Fam Cancer. 2011;10(1):1-9.
57. Grover S, Kastrinos F, Steyerberg EW, Cook EF, Dewanwala A, Burbidge LA, et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA. 2012;308(5):485-492.
58. Lubbe SJ, Di Bernardo MC, Chandler IP, Houlston RS. Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH Mutation. J Clin Oncol. 2009;27(24):3975-3980.
59. Farrington SM, Tenesa A, Barnetson R, Wiltshire A, Prendergast J, Porteous M, et al. Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects. Am J Hum Genet. 2005;77(1):112-119. (Pubitemid 40848041)
60. Nieuwenhuis MH, Vogt S, Jones N, Nielsen M, Hes FJ, Sampson JR, et al. Evidence for accelerated colorectal adenoma - carcinoma progression in MUTYH-associated polyposis? Gut. 2012;61(5):734-738.
61. Win AK, Dowty JG, Cleary SP, Kim H, Buchanan D, Young JP, et al. Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, with and without a Family History of Cancer. Gastroenterology. 2014; In Press.
62. Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, et al. Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis. Gastroenterology. 2009;137(6):1976-1985.e1910.
63. Win AK, Cleary SP, Dowty JG, Baron JA, Young JP, Buchanan DD, et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. Int J Cancer. 2011;129(9):2256-2262.
64. Zhu M, Chen X, Zhang H, Xiao N, Zhu C, He Q, et al. AluYb8 insertion in the MUTYH gene and risk of early-onset breast and gastric cancers in the Chinese population. Asian Pac J Cancer Prev. 2011;12(6):1451-1455.
65. Buecher B, Bonaiti C, Buisine MP, Colas C, Saurin JC. French experts report on MUTYH-associated polyposis (MAP). Fam Cancer. 2012;11(3):321-328.
66. Macrae F, Ahnen DJ. Acceleration in colorectal carcinogenesis: the hare, the tortoise or myth? Gut. 2013;62(5):657-659.
67. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology Version 1.2013. Colorectal Cancer Screening. 2013; http://www.nccn.org/professionals/physician-gls/pdf/colorectal-screening.pdf. Accessed June 24, 2013.
68. Nascimbeni R, Pucciarelli S, Di Lorenzo D, Urso E, Casella C, Agostini M, et al. Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. Dis Colon Rectum. 2010;53(12):1670-1675.
69. Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013;45(2):136-144.
70. Win AK, Hopper JL, Buchanan DD, Young JP, Tenesa A, Dowty JG, et al. Are the common genetic variants known to be associated with colorectal cancer risk in the general population also associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers? Eur J Cancer. 2013;49(7):1578-1587.
71. Theodoratou E, Montazeri Z, Hawken S, Allum GC, Gong J, Tait V, et al. Systematic meta-analyses and field synopsis of genetic association studies in colorectal cancer. J Natl Cancer Inst. 2012;104(19):1433-1457.
72. Tomlinson I, Webb E, Carvajal-Carmona L, Broderick P, Kemp Z, Spain S, et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet. 2007;39(8):984-988. (Pubitemid 47185182)
73. Haiman CA, Le Marchand L, Yamamato J, Stram DO, Sheng X, Kolonel LN, et al. A common genetic risk factor for colorectal and prostate cancer. Nat Genet. 2007;39(8):954-956. (Pubitemid 47185184)
74. Tenesa A, Farrington SM, Prendergast JGD, Porteous ME, Walker M, Haq N, et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet. 2008;40(5):631-637. (Pubitemid 351601219)
75. Zanke BW, Greenwood CMT, Rangrej J, Kustra R, Tenesa A, Farrington SM, et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet. 2007;39(8):989-994. (Pubitemid 47185183)
76. Houlston RS, Webb E, Broderick P, Pittman AM, Di Bernardo MC, Lubbe S, et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet. 2008;40(12):1426-1435.
77. Jaeger E, Webb E, Howarth K, Carvajal-Carmona L, Rowan A, Broderick P, et al. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet. 2008;40(1):26-28.
78. Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, et al. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet. 2007;39(11):1315-1317. (Pubitemid 350034998)
79. Houlston RS, Cheadle J, Dobbins SE, Tenesa A, Jones AM, Howarth K, et al. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet. 2010;42(11):973-977.
80. Tomlinson IPM, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, et al. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet. 2008;40(5):623-630. (Pubitemid 351601204)
81. Tenesa A, Dunlop MG. New insights into the aetiology of colorectal cancer from genome-wide association studies. Nature reviews. Genetics. 2009;10(6):353-358.
82. Aaltonen L, Johns L, Järvinen H, Mecklin J-P, Houlston R. Explaining the Familial Colorectal Cancer Risk Associated with Mismatch Repair (MMR)-Deficient and MMR-Stable Tumors. Clin Cancer Res. 2007;13(1):356-361. (Pubitemid 46121890)
83. Win AK, MacInnis RJ, Hopper JL, Jenkins MA. Risk Prediction Models for Colorectal Cancer: A Review. Cancer Epidemiol Biomarkers Prev. 2012;21(3):398-410.
84. Hopper JL, Carlin JB. Familial Aggregation of a Disease Consequent upon Correlation between Relatives in a Risk Factor Measured on a Continuous Scale. Am J Epidemiol. 1992;136(9):1138-1147. (Pubitemid 23005174)
85. Hopper JL. Disease-specific prospective family study cohorts enriched for familial risk. Epidemiol Perspect Innov. 2011;8(1):2.
86. Yasui Y, Newcomb PA, Trentham-Dietz A, Egan KM. Familial relative risk estimates for use in epidemiologic analyses. Am J Epidemiol. 2006;164(7):697-705. (Pubitemid 44453499)
87. Winawer S, Fletcher R, Rex D, Bond J, Burt R, Ferrucci J, et al. Colorectal cancer screening and surveillance: Clinical guidelines and rationale - Update based on new evidence. Gastroenterology. 2003;124(2):544-560. (Pubitemid 36169269)
88. Vasen HFA, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116(6):1453-1456. (Pubitemid 29258894)
89. Evaluation of the Bowel Screening Pilot - Findings from 2012 Immersion Visit. Wellington: Ministry of Health, New Zealand; 2013.
90. Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, et al. Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers. J Natl Cancer Inst. 2010;102(3):193-201.
91. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, et al. The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations. Gastroenterology. 2008;135(2):419-428.
92. Kempers MJE, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011;12(1):49-55.
93. Parry S, Win AK, Parry B, Macrae FA, Gurrin LC, Church JM, et al. Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. Gut. 2011;60(7):950-957.
94. Win AK, Parry S, Parry B, Kalady MF, Macrae FA, Ahnen DJ, et al. Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers. Ann Surg Oncol. 2013;20(6):1829-1836.