Kolorektal Kanser Teşhisinde Moleküler Genetik Testler

Mao, R., Krautscheid, P., Graham, R. P., Ganguly, A., Shankar, S., Ferber, M., & ACMG Laboratory Quality Assurance Committee. Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine, 2021;23(10), 1807-1817.

Lieberman D., Moravec M., Holub J., et. al.: Polyp size and advanced histology in patients undergoing colonoscopy screening: implications for CT colonography. Gastroenterology 2008; 135: pp. 1100-1105.

Winawer S.J., Zauber A.G., Ho M.N., et. al.: Prevention of colorectal cancer by colonoscopic polypectomy. The National Polyp Study Workgroup. N Engl J Med 1993; 329: pp. 1977-1981.

Levin B., Lieberman D.A., McFarland B., 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. Gastroenterology 2008; 134: pp. 1570-1595.

Siegel R.L., Jemal A., Ward E.M.: Increase in incidence of colorectal cancer among young men and women in the United States. Cancer Epidemiol Biomarkers Prev 2009; 18: pp. 1695-1698.

Fuchs C.S., Giovannucci E.L., Colditz G.A., et. al.: A prospective study of family history and the risk of colorectal cancer. N Engl J Med 1994; 331: pp. 1669-1674.

Jasperson K.W., Tuohy T.M., Neklason D.W., et. al.: Hereditary and familial colon cancer. Gastroenterology 2010; 138: pp. 2044-2058.

Bussey H., Veale A., Morson B.: Genetics of gastrointestinal polyposis. Gastroenterology 1978; 74: pp. 1325-1330.

Syngal S, Brand RE, Chruch JM, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015;110:223–262.

Vasen H.F., Watson P., Mecklin J.P., et. al.: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999; 116: pp. 1453-1456.

Lindor N.M., Rabe K., Petersen G.M., et. al.: Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005; 293: pp. 1979-1985.

Markowitz S.D., Bertagnolli M.M.: Molecular origins of cancer: molecular basis of colorectal cancer. N Engl J Med 2009; 361: pp. 2449-2460.

Petersen G.M., Slack J., Nakamura Y.: Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 1991; 100: pp. 1658-1664.

Fearon E.R., Vogelstein B.: A genetic model for colorectal tumorigenesis. Cell 1990; 61: pp. 759-767.

Cancer Genome Atlas Network: Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012; 487: pp. 330-337.

Moisio A.L., Jarvinen H., Peltomaki P.: Genetic and clinical characterisation of familial adenomatous polyposis: a population based study. Gut 2002; 50: pp. 845-850.

Giardiello F.M., Krush A.J., Petersen G.M., et. al.: Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology 1994; 106: pp. 1542-1547.

Miyaki M., Konishi M., Kikuchi-Yanoshita R., et. al.: Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. Cancer Res 1994; 54: pp. 3011-3020.

Spirio L., Olschwang S., Groden J., et. al.: Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993; 75: pp. 951-957.

Kinzler K.W., Nilbert M.C., Su L.K., et. al.: Identification of FAP locus genes from chromosome 5q21. Science 1991; 253: pp. 661-665.

Groden J., Thliveris A., Samowitz W., et. al.: Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66: pp. 589-600.

Rohlin A., Engwall Y., Fritzell K., et. al.: Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. Oncogene 2011; 30: pp. 4977-4989.

Aretz S., Stienen D., Friedrichs N., et. al.: Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Hum Mutat 2007; 28: pp. 985-992.

Al-Tassan N., Chmiel N.H., Maynard J., et. al.: Inherited variants of MYH associated with somatic G: C→T: A mutations in colorectal tumors. Nat Genet 2002; 30: pp. 227-232.

Sieber O.M., Lipton L., Crabtree M., et. al.: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348: pp. 791-799.

Jo W.S., Bandipalliam P., Shannon K.M., et. al.: Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol 2005; 3: pp. 1022-1028.

Grover S., Kastrinos F., Steyerberg E.W., et. al.: Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 2012; 308: pp. 485-492.

Wang L., Baudhuin L.M., Boardman L.A., et. al.: MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 2004; 127: pp. 9-16.

Vogt S., Jones N., Christian D., et. al.: Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137: pp. 1976-1985. e1971−e1910

Balaguer F., Castellvi-Bel S., Castells A., et. al.: Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol 2007; 5: pp. 379-387.

Theodoratou E., Campbell H., Tenesa A., et. al.: A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. Br J Cancer 2010; 103: pp. 1875-1884.

Win A.K., Dowty J.G., Cleary S.P., et. al.: Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology 2014; 146: pp. 1208-1211. e1201−e1205

National Comprehensive Cancer Network. NCCN Clinical practice guidelines in oncology. Genetic/familial high risk assessment: colorectal. Published 2014, v. 2.2014. Available at: nccn.org . Accessed June 2015.

Giardiello F.M., Brensinger J.D., Petersen G.M.: AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001; 121: pp. 198-213.

Hampel H., Bennett R.L., Buchanan A., et. al.: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med 2015; 17: pp. 70-87.

Syngal S., Brand R.E., Church J.M., et. al.: ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015; 110: pp. 223-262. quiz 263

Balmana J., Balaguer F., Cervantes A., et. al., ESMO Guidelines Work Group: Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines. Ann Oncol 2013; 24: pp. vi73-vi80.

Palles C., Cazier J.B., Howarth K.M., et. al.: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013; 45: pp. 136-144.

Briggs S., Tomlinson I.: Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol 2013; 230: pp. 148-153.

Spier I., Holzapfel S., Altmuller J., et. al.: Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 2015; 137: pp. 320-331.

van Lier M.G., Wagner A., Mathus-Vliegen E.M., et. al.: High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 2010; 105: pp. 1258-1264. author reply 1265

Giardiello F.M., Trimbath J.D.: Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006; 4: pp. 408-415.

Howe J.R., Mitros F.A., Summers R.W.: The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 1998; 5: pp. 751-756.

Schwenter F., Faughnan M.E., Gradinger A.B., et. al.: Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation. J Gastroenterol 2012; 47: pp. 795-804.

Sweet K., Willis J., Zhou X.P., et. al.: Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005; 294: pp. 2465-2473.

Heald B., Mester J., Rybicki L., et. al.: Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology 2010; 139: pp. 1927-1933.

Carethers J.M., Furnari F.B., Zigman A.F., et. al.: Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res 1998; 58: pp. 2724-2726.

Snover D.C., Ahnen D., Burt R., et. al.: Serrated polyps of the colon and rectum and serrated polyposis.Bosman F.T.Carniero F.Hruban R. et. al.WHO Classification of Tumours of the Digestive System.2010.IARCLyon, France: Chapter 8

Lash R.H., Genta R.M., Schuler C.M.: Sessile serrated adenomas: prevalence of dysplasia and carcinoma in 2139 patients. J Clin Pathol 2010; 63: pp. 681-686.

Kahi C.J., Hewett D.G., Norton D.L., et. al.: Prevalence and variable detection of proximal colon serrated polyps during screening colonoscopy. Clin Gastroenerol Hepatol 2011; 9: pp. 42-46.

Leggett B., Whitehall V.: Role of the serrated pathway in colorectal cancer pathogenesis. Gastroenterology 2010; 138: pp. 2088-2100.

Snover D.C.: Update on the serrated pathway to colorectal carcinoma. Hum Pathol 2011; 42: pp. 1-10.

Kalady MF, Jarrar A, Leach B, et al. Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. Dis Colon Rectum 2011;54:164–170.

Gala MK, Mizukami Y, Le LP, et al. Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. Gastroenterology,2014;146:520–529.

Boparai KS, Dekker E, Van Eeden S, et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology 2008;135:2014–2018.

Terdiman JP, McQuaid KR. Surveillance guidelines should be updated to recognize the importance of serrated polyps. Gastroenterology 2010;139:1444–1447.

Boparai KS, Mathus-Vliegen EM, Koornstra JJ, et al. Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study. Gut 2010;59:1094–1100.

Rex DK, Ahnen DJ, Baron JA, et al. Serrated lesions of the colorectum: review and recommendations from an expert panel. Am J Gastroenterol 2012;107:1315–1329; quiz 1314, 1330.

Ngeow J, Heald B, Rybicki LA, et al. Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. Gastroenterology 2013;144:1402–1409. 1409 e1401_e1405.

Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248–5257.

Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005;352:1851–1860.

Boland CR, Lynch HT. The history of Lynch syndrome. Fam Cancer 2013;12:145–157.

Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005;42:491–496.

Jenkins MA, Baglietto L, Dowty JG, et al. Cancer risks for mismatch repair gene mutation carriers: a populationbased early onset case-family study. Clin Gastroenterol Hepatol 2006;4:489–498.

Stoffel E, Mukherjee B, Raymond VM, et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 2009; 137:1621–1627.

Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999;81:214–218.

Jarvinen HJ, Renkonen-Sinisalo L, Aktan-Collan K, et al. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 2009; 27:4793–4797.

Engel C, Rahner N, Schulmann K, et al. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol 2010;8:174–182.

Edelstein DL, Axilbund J, Baxter M, et al. Rapid development of colorectal neoplasia in patients with Lynch syndrome. Clin Gastroenterol Hepatol 2011;9:340–343.

Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003;348:919–932.

Peltomaki P. Lynch syndrome genes. Fam Cancer 2005; 4:227–232.

Carethers JM, Smith EJ, Behling CA, et al. Use of 5- fluorouracil and survival in patients with microsatelliteunstable colorectal cancer. Gastroenterology 2004; 126:394–401.

Gryfe R, Kim H, Hsieh ET, et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med 2000;342:69–77.

Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology 2014; 147:502–526.

Kastrinos F, Stoffel EM, Balmana J, et al. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prev 2008;17:2044–2051.

Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008;135:419–428.

Baglietto L, Lindor NM, Dowty JG, et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 2010;102:193–201.

Goodenberger ML, Thomas BC, Riegert-Johnson D, et al. PMS2 monoallelic mutation carriers: the known unknown. Genet Med 2015 Apr 9. http://dx.doi.org/10. 1038/gim.2015.27 [Epub ahead of print].

Ligtenberg MJ, Kuiper RP, Chan TL, 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;41:112–117.

Ligtenberg MJ, Kuiper RP, Geurts van Kessel A, et al. EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients. Fam Cancer 2013; 12:169–174.

Lynch HT, Riegert-Johnson DL, Snyder C, et al. Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol 2011;106:1829–1836.

Mueller J, Gazzoli I, Bandipalliam P, et al. Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res 2009; 69:7053–7061.

Palomaki GE, McClain MR, Melillo S, et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 2009;11:42–65.

Mensenkamp AR, Vogelaar IP, van Zelst-Stams WA, et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. Gastroenterology 2014; 146:643–646 e648.

Suter CM, Martin DI, Ward RL. Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 2004;36:497–501.

Hitchins MP, Wong JJ, Suthers G, et al. Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 2007;356:697–705.

Hitchins MP, Rapkins RW, Kwok CT, et al. Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5’UTR. Cancer Cell 2011;20:200–213.

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;354:261–269.

Jarvinen 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;118:829–834.

Mecklin JP, Aarnio M, Laara E, et al. Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome. Gastroenterology 2007;133:1093–1098.

Vasen HF, Abdirahman M, Brohet R, et al. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology 2010; 138:2300–2306.

Llor X, Pons E, Xicola RM, et al. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res 2005;11:7304–7310.

Nieminen TT, Abdel-Rahman WM, Ristimaki A, et al. BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 2011;141:e23–e26.

Nieminen TT, O’Donohue MF, Wu Y, et al. Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology 2014;147:595–598 e595.

Schulz E, Klampfl P, Holzapfel S, et al. Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. Nat Commun 2014;5:5191.

Wei C, Peng B, Han Y, et al. Mutations of HNRNPA0 and WIF1 predispose members of a large family to multiple cancers. Fam Cancer 2015;14:297–306.

Yurgelun MB, Masciari S, Joshi VA, et al. Germline mutations in patients with early-onset colorectal cancer in the Colon Cancer Family Registry. JAMA Oncol 2015; 1(2).

Yurgelun MB, Allen B, Kaldate RR, et al. Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome. Gastroenterology 2015 May 14. pii: S0016–5085(15)00678-2. http:// dx.doi.org/10.1053/j.gastro.2015.05.006. [Epub ahead of print].

Phelan CM, Iqbal J, Lynch HT, et al. Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study. Br J Cancer 2014; 110:530–534.

Moreira L, Balaguer F, Lindor N, et al. Identification of Lynch syndrome among patients with colorectal cancer. JAMA 2012;308:1555–1565.

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009;11:35–41.

Chen S, Wang W, Lee S, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006;296:1479–1487.

Kastrinos F, Steyerberg EW, Mercado R, et al. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 2011;140:73–81.

Dinh TA, Rosner BI, Atwood JC, et al. Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res 2011;4:9–22.

Robson ME, Storm CD, Weitzel J, et al; American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2010; 28:893–901.

Lu KH, Wood ME, Daniels M, et al. American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. J Clin Oncol 2014;32:833–840.

Kurian AW, Hare EE, Mills MA, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 2014;32:2001–2009.

Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 2011;108:18032–18037.

Domchek SM, Bradbury A, Garber JE, et al. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 2013;31:1267–1270.