The evolution of colorectal cancer genetics-Part 2: Clinical implications and applications

Journal of Gastrointestinal Oncology

Volumn 5, Issue 5, 2014, Pages 336-344

  Schlussel, Andrew T ^a   Gagliano, Ronald A ^b   Seto Donlon, Susan ^a   Eggerding, Faye ^c   Donlon, Timothy ^d,e   Berenberg, Jeffrey ^a   Lynch, Henry T ^f  

^a TRIPLER ARMY MEDICAL CENTER   (United States)

^b UNIVERSITY OF ARIZONA   (United States)

^c HUNTINGTON MEDICAL RESEARCH INSTITUTES   (United States)

^d Ohana Genetics   (United States)

^e UNIVERSITY OF HAWAII   (United States)

^f CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

(hereditary CRC); Hereditary colorectal cancer; Medical oncologic management; Surgical oncologic management

Indexed keywords

CETUXIMAB; FLUOROPYRIMIDINE; FLUOROURACIL; LEVOLEUCOVORIN; OXALIPLATIN; PANITUMUMAB; PROTEIN MSH2; PROTEIN MSH6;

APC GENE; CANCER ADJUVANT THERAPY; CANCER GENETICS; CANCER INCIDENCE; CANCER PROGNOSIS; CANCER RISK; CANCER SURVIVAL; CLINICAL TRIAL (TOPIC); COLON RESECTION; FAMILIAL COLON POLYPOSIS; GENE; GENE EXPRESSION; GENEALOGY; GENETIC DISORDER; GENETIC VARIABILITY; GERMLINE MUTATION; HEALTH CARE PLANNING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HIGH RISK PATIENT; HUMAN; ILEOANAL ANASTOMOSIS; ILEORECTAL ANASTOMOSIS; ILEOSTOMY; MEDICAL DECISION MAKING; MICROSATELLITE INSTABILITY; MLH1 GENE; MSH2 GENE; MSH6 GENE; MUTATIONAL ANALYSIS; MUTYH ASSOCIATED POLYPOSIS; MYH GENE; OVERALL SURVIVAL; PHENOTYPIC VARIATION; POLYPECTOMY; POLYPOSIS; PROCTOCOLECTOMY; QUALITY OF LIFE; REVIEW; SERRATED POLYPOSIS SYNDROME; SYNDROME X; TOTAL COLON RESECTION; TREATMENT INDICATION; TREATMENT OUTCOME; TREATMENT RESPONSE;

EID: 84995780101     PISSN: 20786891     EISSN: 2219679X     Source Type: Journal    
DOI: 10.3978/j.issn.2078-6891.2014.068     Document Type: Review

References (74)

1. Patel SG, Ahnen DJ. Familial colon cancer syndromes: An update of a rapidly evolving field. Curr Gastroenterol Rep 2012;14:428-38.
2. Lieberman D. Screening for colorectal cancer in individuals at average risk: Current methods and emerging issues. JAMA Intern Med 2014;174:10-11.
3. Perea J, Justo I, Alvaro E, et al. Surgical management of hereditary colorectal cancer: Surgery based on molecular analysis and family history. Rev Esp Enferm Dig 2009;101:536-40.
4. Schrader K, Offit K, Stadler ZK. Genetic testing in gastrointestinal cancers: a case-based approach. Oncology (Williston Park) 2012;26:433-6, 438, 444-6 passim.
5. Gallagher DJ, Smith JD, Offit K, et al. Diagnosing hereditary colorectal cancer. Clin Colorectal Cancer 2010;9:205-211.
6. Boland CR, Lynch HT. The history of Lynch syndrome. Fam Cancer 2013;12:145-57.
7. Ahnen DJ, Wade SW, Jones WF, et al. The increasing incidence of young-onset colorectal cancer: A call to action. Mayo Clin Proc 2014;89:216-24.
8. Vasen HF, Blanco I, Aktan-Collan K, et al. Revised guidelines for the clinical management of lynch syndrome (HNPCC): Recommendations by a group of european experts. Gut 2013;62:812-23.
9. Kalady MF. Surgical management of hereditary nonpolyposis colorectal cancer. Adv Surg 2011;45:265-74.
10. Baiocchi GL, Portolani N, Vermi W, et al. Lynch syndrome from a surgeon perspective: Retrospective study of clinical impact of mismatch repair protein expression analysis in colorectal cancer patients less than 50 years old. BMC Surg 2014;14:9.
11. Warrier SK, Yeung JM, Lynch AC, et al. Managing young colorectal cancer: A UK and irish perspective. World J Surg 2014;38:1827-33.
12. National Comprehensive Cancer Network. Genetic/ familial high-risk assessment: Colorectal (version 1.2014). National Comprehensive Cancer Network Web site. Available online: http://www.nccn.org. Updated 2014. Accessed 03/27, 2014.
13. Hendriks YM, de Jong AE, Morreau H, et al. Diagnostic approach and management of lynch syndrome (hereditary nonpolyposis colorectal carcinoma): A guide for clinicians. CA Cancer J Clin 2006;56:213-25.
14. Rodriguez-Bigas MA, Moeslein G. Surgical treatment of hereditary nonpolyposis colorectal cancer (HNPCC, lynch syndrome). Fam Cancer 2013;12:295-300.
15. Parry S, Win AK, Parry B, et al. Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: The advantage of more extensive colon surgery. Gut 2011;60:950-7.
16. Cirillo L, Urso ED, Parrinello G, et al. High risk of rectal cancer and of metachronous colorectal cancer in probands of families fulfilling the amsterdam criteria. Ann Surg 2013;257:900-4.
17. Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to lynch syndrome: A systematic review. JAMA 2006;296:1507-17.
18. Baucom RB, Wise PE. Endoscopic and surgical management of hereditary nonpolyposis colorectal cancer. Clin Colon Rectal Surg 2012;25:90-6.
19. Natarajan N, Watson P, Silva-Lopez E, et al. Comparison of extended colectomy and limited resection in patients with lynch syndrome. Dis Colon Rectum 2010;53:77-82.
20. Kalady MF, McGannon E, Vogel JD, et al. Risk of colorectal adenoma and carcinoma after colectomy for colorectal cancer in patients meeting Amsterdam criteria. Ann Surg 2010;252:507.
21. Haanstra JF, de Vos Tot Nederveen Cappel WH, Gopie JP, et al. Quality of life after surgery for colon cancer in patients with lynch syndrome: Partial versus subtotal colectomy. Dis Colon Rectum 2012;55:653-9.
22. Burn J, Gerdes AM, Macrae F, et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial. Lancet 2011;378:2081-7.
23. Engel C, Rahner N, Schulmann K, et al. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol 2010;8:174-82.
24. East JE, Suzuki N, Stavrinidis M, et al. Narrow band imaging for colonoscopic surveillance in hereditary nonpolyposis colorectal cancer. Gut 2008;57:65-70.
25. Celentano V, Luglio G, Antonelli G, et al. Prophylactic surgery in Lynch syndrome. Tech Coloproctol 2011;15:129-34.
26. Jarry J, Brunet JS, Laframboise R, et al. A survey of APC mutations in quebec. Fam Cancer 2011;10:659-65.
27. Lin-Hurtubise KM, Yheulon CG, Gagliano RA Jr, et al. Excess of extracolonic non-endometrial multiple primary cancers in MSH2 germline mutation carriers over MLH1. J Surg Oncol 2013;108:433-7.
28. Bauer CM, Ray AM, Halstead-Nussloch BA, et al. Hereditary prostate cancer as a feature of Lynch syndrome. Fam Cancer 2011;10:37-42.
29. Lotsari JE, Gylling A, Abdel-Rahman W, et al. Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. Breast Cancer Res 2012;14:R90.
30. Raymond VM, Mukherjee B, Wang F, et al. Elevated risk of prostate cancer among men with Lynch syndrome. J Clin Oncol 2013;31:1713-8.
31. Raymond VM, Everett JN, Furtado LV, et al. Adrenocortical carcinoma is a Lynch syndrome-associated cancer. J Clin Oncol 2013;31:3012-8.
32. Risinger JI, Barrett JC, Watson P, et al. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal cancer syndrome. Cancer 1996;77:1836-43.
33. Järvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000;118:829-34.
34. van Rijn JC, Reitsma JB, Stoker J, et al. Polyp miss rate determined by tandem colonoscopy: A systematic review. Am J Gastroenterol 2006;101:343-50.
35. Syngal S, Weeks JC, Schrag D, et al. Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann Intern Med 1998;129:787-96.
36. Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the lynch syndrome. N Engl J Med 2006;354:261-9.
37. Nieuwenhuis MH, Vasen HF. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature. Crit Rev Oncol Hematol 2007;61:153-61.
38. Rozen P, Macrae F. Familial adenomatous polyposis: The practical applications of clinical and molecular screening. Fam Cancer 2006;5:227-35.
39. Jasperson KW, Burt RW. APC-associated polyposis conditions. In: Pagon RA, Adam MP, Bird TD, et al. eds. GeneReviews(R). Seattle (WA): University of Washington, 1993.
40. Nielsen M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet 2007;71:427-33.
41. Smith KD, Rodriguez-Bigas MA. Role of surgery in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer (lynch syndrome). Surg Oncol Clin N Am 2009;18:705-15.
42. Kennedy RD, Potter DD, Moir CR, et al. The natural history of familial adenomatous polyposis syndrome: A 24 year review of a single center experience in screening, diagnosis, and outcomes. J Pediatr Surg 2014;49:82-6.
43. Rozen P, Macrae F. Familial adenomatous polyposis: The practical applications of clinical and molecular screening. Fam Cancer 2006;5:227-35.
44. Aziz O, Athanasiou T, Fazio VW, et al. Meta-analysis of observational studies of ileorectal versus ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg 2006;93:407-17.
45. Talebinejad S, Hicks TC, Margolin DA, et al. Restorative proctocolectomy: the current ochsner experience. Ochsner J 2013;13:512-6.
46. Chokshi RJ, Abdel-Misih S, Bloomston M. Surgical management of colorectal cancer: A review of the literature. Indian J Surg 2009;71:350-5.
47. Maartense S, Dunker MS, Slors JF, et al. Hand-assisted laparoscopic versus open restorative proctocolectomy with ileal pouch anal anastomosis: A randomized trial. Ann Surg 2004;240:984-91; discussion 991-2.
48. Keller DS, Khorgami Z, Swendseid B, et al. Laparoscopic and converted approaches to rectal cancer resection have superior long-term outcomes: a comparative study by operative approach. Surg Endosc 2014;28:1940-8.
49. Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003;348:791-9.
50. Church J, Heald B, Burke C, et al. Understanding MYHassociated neoplasia. Dis Colon Rectum 2012;55:359-62.
51. Leite JS, Isidro G, Martins M, et al. Is prophylactic colectomy indicated in patients with MYH-associated polyposis? Colorectal Dis 2005;7:327-31.
52. Rex DK, Ahnen DJ, Baron JA, et al. Serrated lesions of the colorectum: review and recommendations from an expert panel. Am J Gastroenterol 2012;107:1315-29; quiz 1314, 1330.
53. Jasperson KW, Kanth P, Kirchhoff AC, et al. Serrated polyposis: Colonic phenotype, extracolonic features, and familial risk in a large cohort. Dis Colon Rectum 2013;56:1211-6.
54. Snover DC, Ahnen D, Burt R, et al. Serrated polyps of the colon and rectum and serrated polyposis. In: Bosman T, Carneiro F, Hruban R. eds. WHO classification of tumours of the digestive system. Lyon: World Health Organization, 2010:160-5.
55. Hazewinkel Y, Reitsma JB, Nagengast FM, et al. Extracolonic cancer risk in patients with serrated polyposis syndrome and their first-degree relatives. Fam Cancer 2013;12:669-73.
56. Hazewinkel Y, Tytgat KM, van Eeden S, et al. Incidence of colonic neoplasia in patients with serrated polyposis syndrome who undergo annual endoscopic surveillance. Gastroenterology 2014;147:88-95.
57. Goel A, Xicola RM, Nguyen TP, et al. Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 2010;138:1854-62.
58. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X. JAMA 2005;293:1979-85.
59. Fujita S, Moriya Y, Sugihara K, et al. Prognosis of hereditary nonpolyposis colorectal cancer (HNPCC) and the role of japanese criteria for HNPCC. Jpn J Clin Oncol 1996;26:351-5.
60. Percesepe A, Benatti P, Roncucci L, et al. Survival analysis in families affected by hereditary non-polyposis colorectal cancer. Int J Cancer 1997;71:373-6.
61. Myrhøj T, Bisgaard ML, Bernstein I, et al. Hereditary non-polyposis colorectal cancer: clinical features and survival. Results from the Danish HNPCC register. Scand J Gastroenterol 1997;32:572-6.
62. Bertario L, Russo A, Sala P, et al. Survival of patients with hereditary colorectal cancer: Comparison of HNPCC and colorectal cancer in FAP patients with sporadic colorectal cancer. Int J Cancer 1999;80:183-7.
63. Stigliano V, Assisi D, Cosimelli M, et al. Survival of hereditary non-polyposis colorectal cancer patients compared with sporadic colorectal cancer patients. J Exp Clin Cancer Res 2008;27:39.
64. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005;23:609-18.
65. Guastadisegni C, Colafranceschi M, Ottini L, et al. Microsatellite instability as a marker of prognosis and response to therapy: A meta-analysis of colorectal cancer survival data. Eur J Cancer 2010;46:2788-98.
66. Merok MA, Ahlquist T, Royrvik EC, et al. Microsatellite instability has a positive prognostic impact on stage II colorectal cancer after complete resection: Results from a large, consecutive norwegian series. Ann Oncol 2013;24:1274-82.
67. Poindessous V, Ouaret D, El Ouadrani K, et al. EGFRand VEGF(R)-targeted small molecules show synergistic activity in colorectal cancer models refractory to combinations of monoclonal antibodies. Clin Cancer Res 2011;17:6522-30.
68. Gray RG, Quirke P, Handley K, et al. Validation study of a quantitative multigene reverse transcriptase-polymerase chain reaction assay for assessment of recurrence risk in patients with stage II colon cancer. J Clin Oncol 2011;29:4611-9.
69. Cunningham D, Humblet Y, Siena S, et al. Cetuximab monotherapy and cetuximab plus irinotecan in irinotecanrefractory metastatic colorectal cancer. N Engl J Med 2004;351:337-45.
70. Bos JL, Fearon ER, Hamilton SR, et al. Prevalence of ras gene mutations in human colorectal cancers. Nature 1987;327:293-7.
71. Karapetis CS, Khambata-Ford S, Jonker DJ, et al. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N Engl J Med 2008;359:1757-65.
72. Allegra CJ, Jessup JM, Somerfield MR, et al. American society of clinical oncology provisional clinical opinion: Testing for KRAS gene mutations in patients with metastatic colorectal carcinoma to predict response to antiepidermal growth factor receptor monoclonal antibody therapy. J Clin Oncol 2009;27:2091-6.
73. Therkildsen C, Bergmann TK, Henrichsen-Schnack T, et al. The predictive value of KRAS, NRAS, BRAF, PIK3CA and PTEN for anti-EGFR treatment in metastatic colorectal cancer: A systematic review and meta-analysis. Acta Oncol 2014;53:852-64.
74. French AJ, Sargent DJ, Burgart LJ, et al. Prognostic significance of defective mismatch repair and BRAF V600E in patients with colon cancer. Clin Cancer Res 2008;14:3408-15.