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Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management

The American Journal of Gastroenterology volume 112, pages 15091525 (2017) | Download Citation

Abstract

Colorectal cancer (CRC) is the fourth most common cancer amongst men and women. Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and several hamartomatous polyposis conditions. Identification of these patients through family history and appropriate genetic testing can provide estimates of cancer risk that inform appropriate cancer screening, surveillance and/or preventative interventions. This narrative review examines the hereditary colorectal cancer and polyposis syndromes, their genetic basis, clinical management, and evidence supporting cancer screening.

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References

  1. 1.

    , , . Malignant obstruction of the left colon. Br J Surg 1994;81:1270–1276.

  2. 2.

    , , et al. Better breast cancer survival for postmenopausal women who are less overweight and eat less fat. The Iowa Women's Health Study. Cancer 1995;76:275–283.

  3. 3.

    , , . Genetics of colon cancer: impact of inheritance on colon cancer risk. Annu Rev Med 1995;46:371–379.

  4. 4.

    , , et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015;110:223–262 quiz 263.

  5. 5.

    , , et al. American Gastroenterological Association Institute Guideline on the Diagnosis and Management of Lynch Syndrome. Gastroenterology 2015;149:777–782 quiz e16-7.

  6. 6.

    . The genetics of hereditary colon cancer. Genes Dev 2007;21:2525–2538.

  7. 7.

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

  8. 8.

    , , et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat 2013;34:490–497.

  9. 9.

    , , et al. Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. Gastroenterology 2015;149:1446–1453.

  10. 10.

    , , et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 2011;305:2304–2310.

  11. 11.

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

  12. 12.

    , , et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol 2011;12:49–55.

  13. 13.

    , , et al. Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. J. Genet Couns 2012;21:484–493.

  14. 14.

    , , 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.

  15. 15.

    , , et al. Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion. Clin Genet 2012;82:97–99.

  16. 16.

    , , et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am J Gastroenterol 2014;109:1159–1179.

  17. 17.

    , , et al. Comparison of prediction models for Lynch Syndrome among individuals with colorectal cancer. J Natl Cancer Inst 2016;108:1–9.

  18. 18.

    , , et al. Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol 2009;104:1508–1518.

  19. 19.

    , , et al. Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age. Genet Med 2016;18:966–973.

  20. 20.

    , , et al. Lynch syndrome screening strategies among newly diagnosed endometrial cancer patients. Obstet Gynecol 2009;114:530–536.

  21. 21.

    , , et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006;66:7810–7817.

  22. 22.

    , , et al. Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer. Am J Surg Pathol 2014;38:1501–1509.

  23. 23.

    , , et al. Combined microsatellite instability, MLH1 methylation analysis, and immunohistochemistry for lynch syndrome screening in endometrial cancers from GOG210: an NRG Oncology and Gynecologic Oncology Group Study. J Clin Oncol 2015;33:4301–4308.

  24. 24.

    , , et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med 2011;155:69–79.

  25. 25.

    , . Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet 2008;124:105–122.

  26. 26.

    , , et al. Comprehensive mutation analysis of PMS2 in a large cohort of probands suspected of lynch syndrome or constitutional mismatch repair deficiency syndrome. Hum Mutat 2016;37:1162–1179.

  27. 27.

    , , et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000;118:829–834.

  28. 28.

    , , et al. Hereditary nonpolyposis colorectal cancer: results of long-term surveillance in 50 families. Eur J Cancer 1995;31A:1145–1148.

  29. 29.

    , , et al. Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study. BMJ 2005;331:1047.

  30. 30.

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

  31. 31.

    , , et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 2013;62:812–823.

  32. 32.

    , , et al. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 2015;66:464–472.

  33. 33.

    , , et al. Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening. Endoscopy 2009;41:316–322.

  34. 34.

    , , et al. Missed adenomas during colonoscopic surveillance in individuals with Lynch Syndrome (hereditary nonpolyposis colorectal cancer). Cancer Prev Res (Phila) 2008;1:470–475.

  35. 35.

    , , et al. Impact of chromoscopy on adenoma detection in patients with Lynch syndrome: a prospective, multicenter, blinded, tandem colonoscopy study. Am J Gastroenterol 2015;110:288–298.

  36. 36.

    , , et al. Advanced imaging for detection and differentiation of colorectal neoplasia: European Society of Gastrointestinal Endoscopy (ESGE) Guideline. Endoscopy 2014;46:435–449.

  37. 37.

    , , et al. Genetic/Familial high-risk assessment: colorectal version 1.2016, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw 2016;14:1010–1030.

  38. 38.

    , , et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006;354:261–269.

  39. 39.

    , , et al. Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology 2010;138:487–492.

  40. 40.

    , , et al. Equivalent Helicobacter pylori infection rates in Lynch syndrome mutation carriers with and without a first-degree relative with gastric cancer. Int J Colorectal Dis 2016;31:693–697.

  41. 41.

    , , et al. Prevalence of small-bowel neoplasia in Lynch syndrome assessed by video capsule endoscopy. Gut 2015;64:1578–1583.

  42. 42.

    , , et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA 2009;302:1790–1795.

  43. 43.

    , , et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 2013;62:339–347.

  44. 44.

    , , . Chemoprevention in Lynch syndrome. Fam Cancer 2013;12:707–718.

  45. 45.

    , , et al. Obesity, aspirin, and risk of colorectal cancer in carriers of hereditary colorectal cancer: a prospective investigation in the CAPP2 study. J Clin Oncol 33:3591–35972015.

  46. 46.

    . Does aspirin really reduce the risk of colon cancer? Lancet 2012;379:1586 author reply 1587.

  47. 47.

    , , . Does aspirin really reduce the risk of colon cancer? Lancet 2012;379:1586–1587 author reply 1587.

  48. 48.

    , , et al. Aspirin, ibuprofen, and the risk of colorectal cancer in Lynch syndrome. J Natl Cancer Inst 2015;107:1–11.

  49. 49.

    , . Where do we stand with aspirin for the prevention of colorectal cancer? The USPSTF recommendations. Gastroenterology 2016;150:14–18.

  50. 50.

    , , et al. Estimates of benefits and harms of prophylactic use of aspirin in the general population. Ann Oncol 2015;26:47–57.

  51. 51.

    . Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival. Gut 1992;33:357–360.

  52. 52.

    , , et al. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994;3:121–125.

  53. 53.

    , , et al. The incidence rate of familial adenomatous polyposis. Results from the Danish Polyposis Register. Int J Colorectal Dis 1996;11:88–91.

  54. 54.

    , , et al. Hereditary and familial colon cancer. Gastroenterology 2010;138:2044–2058.

  55. 55.

    , , et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004;127:444–451.

  56. 56.

    , , et al. Attenuated familial adenomatous polyposis: results from an international collaborative study. Colorectal Dis 2010;12:e243–e249.

  57. 57.

    , , et al. Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. Eur J Hum Genet 2014;22:1330–1333.

  58. 58.

    , , et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet 2007;71:427–433.

  59. 59.

    , , et al. Epidemiology of familial adenomatous polyposis in Sweden: changes over time and differences in phenotype between males and females. Scand J Gastroenterol 1999;34:1230–1235.

  60. 60.

    , , et al. Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet 2004;12:52–58.

  61. 61.

    , , et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 2012;308:485–492.

  62. 62.

    , , et al. Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis. Am J Hum Genet 2016;99:337–351.

  63. 63.

    , , et al. The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands. Dis Colon Rectum 1990;33:227–230.

  64. 64.

    , , et al. The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis. Gut 2010;59:1378–1382.

  65. 65.

    . Results of national registration of familial adenomatous polyposis. Gut 2003;52:742–746.

  66. 66.

    , , et al. Colorectal cancer: no longer the issue in familial adenomatous polyposis? Fam Cancer 2011;10:11–20.

  67. 67.

    , , . Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003;2:43–55.

  68. 68.

    , , et al. Colorectal cancer surveillance behaviors among members of typical and attenuated FAP families. Am J Gastroenterol 2007;102:153–162.

  69. 69.

    , , et al. Comparison of proctocolectomy and ileal pouch-anal anastomosis to colectomy and ileorectal anastomosis in familial adenomatous polyposis. Fam Cancer 2015;14:221–227.

  70. 70.

    , , et al. Prevalence and risk factors for adenomas in the ileal pouch and the afferent loop after restorative proctocolectomy for patients with familial adenomatous polyposis. Surg Endosc 2013;27:3816–3822.

  71. 71.

    , , et al. Familial adenomatous polyposis: prevalence of adenomas in the ileal pouch after restorative proctocolectomy. Ann Surg 2001;233:360–364.

  72. 72.

    , , . Subsequent adenomas of ileal pouch and anorectal segment after prophylactic surgery for familial adenomatous polyposis. World J Colorectal Surg 2013;3:1–29.

  73. 73.

    , , et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008;57:704–713.

  74. 74.

    , , et al. Duodenal adenomatosis in familial adenomatous polyposis. DAF Project Group. Int J Colorectal Dis 1995;10:43–46.

  75. 75.

    , , et al. Gastroduodenal polyps in patients with familial adenomatous polyposis. Dis Colon Rectum 1992;35:1170–1173.

  76. 76.

    , , et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut 2004;53:381–386.

  77. 77.

    , , et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989;2:783–785.

  78. 78.

    , , et al. Endoscopic resection of ampullary lesions: a single-center 8-year retrospective cohort study of 91 patients with long-term follow-up. Surg Endosc 2013;27:3865–3876.

  79. 79.

    , , et al. Endoscopic management of duodenal adenomas in familial adenomatous polyposis—a single-center experience. Dig Dis Sci 2012;57:732–737.

  80. 80.

    , , et al. "High rate of recurrent adenomatosis during endoscopic surveillance after duodenectomy in patients with familial adenomatous polyposis". Fam Cancer 2013;12:699–706.

  81. 81.

    , , et al. Recurrences are common after endoscopic ampullectomy for adenoma in the familial adenomatous polyposis (FAP) syndrome. Surg Endosc 2014;28:2349–2356.

  82. 82.

    , , et al. Surgical management for advanced duodenal adenomatosis and duodenal cancer in Dutch patients with familial adenomatous polyposis: a nationwide retrospective cohort study. Surgery 2012;151:681–690.

  83. 83.

    , , et al. Progression and management of duodenal neoplasia in familial adenomatous polyposis: a cohort study. Ann Surg 2015;261:1138–1144.

  84. 84.

    , , et al. Long-term follow-up of patients with familial adenomatous polyposis undergoing pancreaticoduodenal surgery. J Gastrointest Surg 2002;6:671–675.

  85. 85.

    , , et al. Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008;6:180–185.

  86. 86.

    , , et al. Morphology and natural history of familial adenomatous polyposis-associated dysplastic fundic gland polyps. Histopathology 2014;65:353–362.

  87. 87.

    , , et al. Risk of thyroid cancer among Caribbean Hispanic patients with familial adenomatous polyposis. Fam Cancer 2016;15:267–274.

  88. 88.

    , , et al. Characteristics of benign and malignant thyroid disease in familial adenomatous polyposis patients and recommendations for disease surveillance. Thyroid 2015;25:325–332.

  89. 89.

    , , et al. The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognized. Clin Colorectal Cancer 2012;11:304–308.

  90. 90.

    , , et al. Screening for thyroid cancer in patients with familial adenomatous polyposis. Ann Surg 2011;253:515–521.

  91. 91.

    , , et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 2007;5:367–373.

  92. 92.

    , , et al. Oral and maxillofacial manifestations of familial adenomatous polyposis. Oral Dis 2007;13:360–365.

  93. 93.

    , . Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet A 2006;140:200–204.

  94. 94.

    , , et al. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) and familial adenomatous polyposis (FAP). Acta Ophthalmol Scand 1996;74:338–342.

  95. 95.

    , , et al. Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals. BMC Gastroenterol 2015;15:84.

  96. 96.

    , , et al. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer 2001;95:102–107.

  97. 97.

    , , et al. Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis. Fam Cancer 2015;14:211–219.

  98. 98.

    , , et al. Desmoid tumour in familial adenomatous polyposis patients: responses to treatments. Fam Cancer 2015;14:31–39.

  99. 99.

    , , . Life expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum 1993;36:1059–1062.

  100. 100.

    , , 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;49:82–86.

  101. 101.

    , , et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med 1993;328:1313–1316.

  102. 102.

    , , et al. The NSAID sulindac reverses rectal adenomas in colectomized patients with familial adenomatous polyposis: clinical results of a dose-finding study on rectal sulindac administration. Int J Colorectal Dis 1993;8:13–17.

  103. 103.

    , , et al. Complete reversion and prevention of rectal adenomas in colectomized patients with familial adenomatous polyposis by rectal low-dose sulindac maintenance treatment. Advantages of a low-dose nonsteroidal anti-inflammatory drug regimen in reversing adenomas exceeding 33 months. Dis Colon Rectum 1995;38:813–830.

  104. 104.

    , , et al. Long-term treatment with sulindac in familial adenomatous polyposis: a prospective cohort study. Gastroenterology 2002;122:641–645.

  105. 105.

    , , . Rectal cancer after prolonged sulindac chemoprevention. A case report. Cancer 1995;75:936–938.

  106. 106.

    , , et al. Effect of the non-steroidal anti-inflammatory drug sulindac on colorectal adenomas of uncolectomized familial adenomatous polyposis. J Gastroenterol Hepatol 2006;21:251–257.

  107. 107.

    , , et al. Risk of duodenal cancer in patients with familial adenomatous polyposis. Gut 2004;53:1547 author reply 1547.

  108. 108.

    , . Management of duodenal adenomas in 98 patients with familial adenomatous polyposis. Gastrointest Endosc 2001;53:265–266.

  109. 109.

    , , et al. Effect of sulindac on small polyps in familial adenomatous polyposis. Lancet 1995;345:855–856.

  110. 110.

    , , et al. Randomized controlled trial of the effect of sulindac on duodenal and rectal polyposis and cell proliferation in patients with familial adenomatous polyposis. Br J Surg 1993;80:1618–1619.

  111. 111.

    , , et al. Effect of sulindac and erlotinib vs placebo on duodenal neoplasia in familial adenomatous polyposis: a randomized clinical trial. JAMA 2016;315:1266–1275.

  112. 112.

    , , et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003;348:791–799.

  113. 113.

    , , et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003;362:39–41.

  114. 114.

    , , et al. Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. Clin Cancer Res 2014;20:1158–1168.

  115. 115.

    , , et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology 2009;136:471–476.

  116. 116.

    , . MUTYH-associated polyposis—from defect in base excision repair to clinical genetic testing. DNA Repair (Amst) 2007;6:274–279.

  117. 117.

    , , et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 2006;15:312–314.

  118. 118.

    , , et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology 2014;146:1208–11.e1-5.

  119. 119.

    , , et al. Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. J Natl Cancer Inst 2010;102:1724–1730.

  120. 120.

    , , et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 2005;42:e54.

  121. 121.

    , , et al. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 2006;119:807–814.

  122. 122.

    , , et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009;137:1976–1985.e10.

  123. 123.

    , , et al. Frequency and features of duodenal adenomas in patients with MUTYH-associated polyposis. Clin Gastroenterol Hepatol 2016;14:986–992.

  124. 124.

    , , et al. Peutz-Jeghers syndrome. In:Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M, eds.. Cancer Syndromes. National Center for Biotechnology Information (US): Bethesda (MD), Douglas L Riegert-Johnson 2009.

  125. 125.

    , , et al. Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Hum Pathol 2016;49:39–48.

  126. 126.

    , . Familial juvenile polyposis coli; increased risk of colorectal cancer. Gut 1984;25:792–800.

  127. 127.

    , , et al. Risk of colorectal cancer in juvenile polyposis. Gut 2007;56:965–967.

  128. 128.

    , , et al. Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. World J Gastroenterol 2014;20:1833–1838.

  129. 129.

    , , et al. Is colorectal surveillance indicated in patients with PTEN mutations? Colorectal Dis 2012;14:e562–e566.

  130. 130.

    , , et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013;105:1607–1616.

  131. 131.

    , , et al. A rare case of solitary peutz jeghers type hamartomatous duodenal polyp with dysplasia!. J Clin Diagn Res 2016;10:OD03–OD04.

  132. 132.

    , , et al. Endoscopic snare papillectomy for a solitary Peutz-Jeghers-type polyp in the duodenum with ingrowth into the common bile duct: case report. World J Gastroenterol 2015;21:8215–8220.

  133. 133.

    , , et al. A solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum. A case report including results of mutation analysis. Digestion 2004;69:79–82.

  134. 134.

    , , et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998;280:1086–1088.

  135. 135.

    , , et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 2001;28:184–187.

  136. 136.

    , , et al. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A 2010;152a:333–339.

  137. 137.

    , , et al. Surveillance of patients affected by Peutz-Jeghers syndrome: diagnostic value of MR enterography in prone and supine position. Abdom Imaging 2012;37:279–287.

  138. 138.

    , , et al. Capsule endoscopy versus magnetic resonance enterography for the detection of small bowel polyps in Peutz-Jeghers syndrome. Fam Cancer 2014;13:249–255.

  139. 139.

    , , et al. Small-bowel capsule endoscopy and device-assisted enteroscopy for diagnosis and treatment of small-bowel disorders: European Society of Gastrointestinal Endoscopy (ESGE) Clinical Guideline. Endoscopy 2015;47:352–376.

  140. 140.

    , , et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 2010;105:1258–1264 author reply 1265.

  141. 141.

    , , et al. ACG guidelines on management of PTEN-Hamartoma Tumor syndrome: does the evidence support so much so young? Am J Gastroenterol 2015;110:1733–1734.

  142. 142.

    , , et al. Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. Dis Colon Rectum 2011;54:164–170.

  143. 143.

    , , et al. Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics. Am J Surg Pathol 2012;36:876–882.

  144. 144.

    , , In:Bosman FT, Carneiro F, Hruban RH, et aled.. WHO Classification of Tumors of the Digestive System. International Agency for Research on Cancer: Lyon, France. 2010, 160–165.

  145. 145.

    , , et al. Detection rate of serrated polyps and serrated polyposis syndrome in colorectal cancer screening cohorts: a European overview. Gut 2016;66:1225–1232.

  146. 146.

    , . Failure to recognize serrated polyposis syndrome in a cohort with large sessile colorectal polyps. Gastrointest Endosc 2012;75:1206–1210.

  147. 147.

    , , et al. Clinicopathologic features of a kindred with SCG5-GREM1-associated hereditary mixed polyposis syndrome. Hum Pathol 2016;60:75–81.

  148. 148.

    , , et al. Germline mutations in the polyposis-associated genes, and are not common in individuals with serrated polyposis syndrome. PLoS One 2013;8:e66705.

  149. 149.

    , , et al. RNA sequencing of sessile serrated colon polyps identifies differentially expressed genes and immunohistochemical markers. PLoS ONE 2014;9:e88367.

  150. 150.

    , , et al. Gene signature in sessile serrated polyps identifies colon cancer subtype. Cancer Prev Res (Phila) 2016;9:456–465.

  151. 151.

    , , et al. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 2006;131:30–39.

  152. 152.

    , , et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology 2008;135:2014–2018.

  153. 153.

    , , et al. Cancer risks for relatives of patients with serrated polyposis. Am J Gastroenterol 2012;107:770–778.

  154. 154.

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

  155. 155.

    , , et al. Serrated polyposis: colonic phenotype, extracolonic features, and familial risk in a large cohort. Dis Colon Rectum 2013;56:1211–1216.

  156. 156.

    , , et al. Incidence of colonic neoplasia in patients with serrated polyposis syndrome who undergo annual endoscopic surveillance. Gastroenterology 2014;147:88–95.

  157. 157.

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

  158. 158.

    , , et al. Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study. Int J Colorectal Dis 2010;25:703–712.

  159. 159.

    , , et al. Serrated polyposis: prospective study of first-degree relatives. Eur J Gastroenterol Hepatol 2013;25:28–32.

  160. 160.

    , , et al. Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome. Gut 2010;59:1222–1225.

  161. 161.

    , , et al. Serrated polyposis: rapid and relentless development of colorectal neoplasia. Gut 2013;62:404–408.

  162. 162.

    , , et al. Extracolonic cancer risk in patients with serrated polyposis syndrome and their first-degree relatives. Fam Cancer 2013;12:669–673.

  163. 163.

    , , 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.

  164. 164.

    , , et al. Dietary fat and risk of breast cancer according to hormone receptor status. Cancer Epidemiol Biomarkers Prev 1995;4:11–19.

  165. 165.

    , , et al. Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. J Clin Oncol 2014;32:824–829.

  166. 166.

    , , et al. Prevalence and predictors of appropriate colorectal cancer surveillance in Lynch syndrome. Am J Gastroenterol 2010;105:1851–1860.

  167. 167.

    , , . The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 1993;217:101–108.

  168. 168.

    , , . AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001;121:198–213.

  169. 169.

    , , et al. American founder mutation for attenuated familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008;6:46–52.

  170. 170.

    , , et al. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer 1995;76:2427–2433.

  171. 171.

    , , . Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum 2002;45:127–134 discussion 134-6.

  172. 172.

    , , et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol 2009;27:3975–3980.

  173. 173.

    , , et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009;137:1976–1985 e1-10.

  174. 174.

    , , et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119:1447–1453.

  175. 175.

    , , et al. Colorectal neoplasia in juvenile polyposis or juvenile polyps. Arch Dis Child 1991;66:971–975.

  176. 176.

    , , . The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 1998;5:751–756.

  177. 177.

    , , et al. Juvenile polyposis—a precancerous condition. Histopathology 1988;13:619–630.

  178. 178.

    . Hyperplastic polyposis syndrome and the risk of colorectal cancer. Gut 2012;61:470–471 author reply 471-2.

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Affiliations

  1. Department of Medicine (Gastroenterology), University of Utah, Salt Lake City, Utah, USA

    • Priyanka Kanth
    • , Randall Burt
    •  & N Jewel Samadder
  2. Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA

    • Jade Grimmett
    • , Marjan Champine
    • , Randall Burt
    •  & N Jewel Samadder
  3. Department of Genetic Counseling Resource, University of Utah, Salt Lake City, Utah, USA

    • Jade Grimmett
    •  & Marjan Champine
  4. Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA

    • Randall Burt
  5. Division of Gastroenterology and Hepatology, Mayo Clinic, Scottsdale, Arizona, USA

    • N Jewel Samadder

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Competing interests

Guarantor of Article: N. Jewel Samadder, MD, MS, MSc, FRCPC.

Specific author contributions: Drs Samadder, Kanth, Burt, and Ms. Grimmett and Champine had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analyses. Study concept and design: N. Jewel Samadder, Priyanka Kanth, Randall Burt, Jade Grimmett, and Marjan Champine; acquisition, analysis, and interpretation of data: N. Jewel Samadder, Priyanka Kanth, Randall Burt, Jade Grimmett, and Marjan Champine; drafting of the manuscript: N. Jewel Samadder, Priyanka Kanth, Randall Burt, Jade Grimmett, and Marjan Champine; critical revision of the manuscript for important intellectual content: N. Jewel Samadder, Priyanka Kanth, Randall Burt, Jade Grimmett, and Marjan Champine.

Financial support: The study was funded by the National Cancer Institute, American Society for Gastrointestinal Endoscopy, American College of Gastroenterology, and the Huntsman Cancer Foundation. The funding sources did not play a role in the design, conduct, or reporting of the study or in the decision to submit the manuscript for publication. Support for this project was provided by NCI grants P01-CA073992 (R.W.B.), R01-CA040641 (R.W.B.), an Endoscopic Research Award from the American Society for Gastrointestinal Endoscopy (N.J.S.), and a junior faculty career development award from the American College of Gastroenterology (N.J.S.). Partial support for the shared Genetic counseling resource and this project was provided by the Huntsman Cancer Institute Cancer Center Support Grant P30CA042014 from the National Cancer institute and the Huntsman Cancer Foundation.

Potential competing interests: Randall Burt is a consultant for Myriad Genetics and N. Jewel Samadder is a consultant for Cook Medical. The remaining authors declare no conflict of interest.

Corresponding author

Correspondence to N Jewel Samadder.

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DOI

https://doi.org/10.1038/ajg.2017.212

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