ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes

American Journal of Gastroenterology

Volumn 110, Issue 2, 2015, Pages 223-262

  Syngal, Sapna ^a,b,c   Brand, Randall E ^d   Church, James M ^e   Giardiello, Francis M ^f   Hampel, Heather L ^g   Burt, Randall W ^h  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^e LERNER RESEARCH INSTITUTE   (United States)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g OHIO STATE UNIVERSITY   (United States)

^h UNIVERSITY OF UTAH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; APC PROTEIN; BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; BRCA1 PROTEIN; BRCA2 PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 2A; EPITHELIAL CELL ADHESION MOLECULE; MISMATCH REPAIR PROTEIN PMS2; PROTEIN KINASE LKB1; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; SMAD4 PROTEIN; STARCH;

ADENOMATOUS POLYP; ADENOMATOUS POLYPOSIS COLI; ARTICLE; CANCER FAMILY; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; CHEMOPROPHYLAXIS; COLON POLYP; COLON RESECTION; COLONOSCOPY; COLORECTAL CANCER; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CONGENITAL DISORDER; COWDEN SYNDROME; DESMOID TUMOR; DIAGNOSIS; DIGESTIVE SYSTEM CANCER; DISEASE MANAGEMENT; FAMILIAL CANCER; FAMILIAL COLON POLYPOSIS; FAMILY HISTORY; FIRST DEGREE RELATIVE; GASTROINTESTINAL NEOPLASMS; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; GERMLINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HIGH RISK PATIENT; HUMAN; ILEORECTAL ANASTOMOSIS; INTESTINAL POLYPOSIS; JUVENILE POLYP; JUVENILE POLYPOSIS SYNDROME; NEOPLASTIC SYNDROMES, HEREDITARY; PANCREAS CANCER; PATIENT DECISION MAKING; PEUTZ JEGHERS SYNDROME; PEUTZ-JEGHERS SYNDROME; POLYPOSIS; PRACTICE GUIDELINE; PRECANCER; PRIORITY JOURNAL; SECOND DEGREE RELATIVE; SMOKING; STANDARDS; STOMACH CANCER; THERAPY;

ADENOMATOUS POLYPOSIS COLI; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CONGENITAL; DIAGNOSIS; DISEASE MANAGEMENT; GASTROINTESTINAL NEOPLASMS; GENETIC TESTING; GENETICS; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; INTESTINAL POLYPOSIS; NEOPLASTIC SYNDROMES, HEREDITARY; PEUTZ-JEGHERS SYNDROME; STANDARDS; THERAPY;

EID: 84964252246     PISSN: 00029270     EISSN: 15720241     Source Type: Journal    
DOI: 10.1038/ajg.2014.435     Document Type: Article

References (364)

1. Guyatt GH, Oxman AD, Vist GE et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ 2008; 336: 924.
2. 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: 833-40.
3. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 4. 2013. National Comprehensive Cancer Network, Inc 2014. All rights reserved. [cited 2014 March 13]; To view the most recent and complete version of the guidelines, go online to NCCN. org. NATIONAL COMPREHENSIVE CANCER NETWORK, NCCN, NCCN GUIDELINES, and all other NCCN Content are trademarks owned by the National Comprehensive Cancer Network, Inc]. Available from http://www. nccn. org/professionals/physician-gls/f-guidelines. asp
4. Ziogas A, Anton-Culver H. Validation of family history data in cancer family registries. Am J Prev Med 2003; 24: 190-8.
5. Wideroff L, Garceau AO, Greene MH et al. Coherence and completeness of population-based family cancer reports. Cancer Epidemiol Biomarkers Prev 2010; 19: 799-810
6. Aaltonen LA, Salovaara R, Kristo P et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998; 338: 1481-7.
7. Barnetson RA, Tenesa A, Farrington SM et al. Identifi cation and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006; 354: 2751-63.
8. Hampel H, Frankel WL, Martin E et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005; 352: 1851-60.
9. Piñol V, Castells A, Andreu M et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identifi cation of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005; 293: 1986-94.
10. Salovaara R, Loukola A, Kristo P et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000; 18: 2193-200.
11. Berg A, Armstrong K, Botkin J et al. 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
12. Hampel H, Frankel WL, Martin E et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008; 26: 5783-8.
13. Akiyama Y, Sato H, Yamada T et al. Germ-line mutation of the hMSH6/ GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997; 57: 3920-3.
14. Bronner CE, Baker SM, Morrison PT et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994; 368: 258-61.
15. Fishel R, Lescoe MK, Rao MR et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993; 75: 1027-38.
16. Leach FS, Nicolaides NC, Papadopoulos N et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993; 75: 1215-25.
17. 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: 112-7.
18. Lindblom A, Tannergard P, Werelius B et al. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet 1993; 5: 279-82.
19. Liu B, Parsons RE, Hamilton SR et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 1994; 54: 4590-4.
20. Miyaki M, Konishi M, Tanaka K et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet. 1997; 17: 271-2. 1997.
21. Nicolaides NC, Papadopoulos N, Liu B et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994; 371: 75-80
22. Papadopoulos N, Nicolaides NC, Wei YF et al. Mutation of a mutL homolog in hereditary colon cancer. Science 1994; 263: 1625-9.
23. Peltomaki P, Aaltonen LA, Sistonen P et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993; 260: 810-2.
24. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High-Risk Assessment: Colorectal V. 1. 2014. National Comprehensive Cancer Network, Inc 2014. All rights reserved. [cited 2014 March 13]; To view the most recent and complete version of the guideline, go online to NCCN. org. NATIONAL COMPREHENSIVE CANCER NETWORK, NCCN, NCCN GUIDELINES, and all other NCCN Content are trademarks owned by the National Comprehensive Cancer Network, Inc]. Available from http://www. nccn. org/professionals/physician-gls/f-guidelines. asp
25. 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. Am J Gastroenterol 2014; 109: 1159-79.
26. Dinh TA, Rosner BI, Atwood JC et al. Health benefi ts and cost-eff ectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res 2011; 4: 9-22.
27. Kastrinos F, Allen JI, Stockwell DH et al. Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol 2009; 104: 1508-18.
28. Jass J, Stewart S, Stewart J et al. Hereditary non-polyposis colorectal cancer-morphologies, genes and mutations. Mutat Res 1994; 310: 125-33.
29. Edelstein DL, Axilbund J, Baxter M et al. Rapid development of colorectal neoplasia in patients with Lynch syndrome. Clin Gastroenterol Hepatol 2011; 9: 340-3.
30. Alarcon F, Lasset C, Carayol J et al. Estimating cancer risk in HNPCC by the GRL method. Eur J Hum Genet 2007; 15: 831-6.
31. Bonadona V, Bonaïti B, Olschwang S et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome JAMA 2011; 305: 2304.
32. Choi YH, Cotterchio M, McKeown-Eyssen G et al. Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. Hered Cancer Clin Pract 2009; 7: 1897-4287
33. Dunlop MG, Farrington SM, Carothers AD et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997; 6: 105-10.
34. Jenkins MA, Baglietto L, Dowty JG et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol 2006; 4: 489-98.
35. 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: 491-6.
36. Hendriks Y, Wagner A, Morreau H et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 2004; 127: 17-25.
37. Senter L, Clendenning M, Sotamaa K et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008; 135: 419-28.
38. Hampel H, Stephens JA, Pukkala E et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005; 129: 415-21.
39. Vasen H. Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer 2005; 4: 219-25.
40. Howlader N, Noone A, Krapcho M et al. SEER Cancer Statistics Review, 1975-2009 (Vintage 2009 Populations) National Cancer Institute: Bethesda, MA, 2012.
41. 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.
42. Järvinen HJ, Mecklin J-P, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 1995; 108: 1405-11.
43. Järvinen HJ, Renkonen-Sinisalo L, Aktán-Collán K et al. Ten years aft er mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 2009; 27: 4793-7.
44. Dove-Edwin I, Sasieni P, Adams J 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.
45. Engel C, Rahner N, Schulmann K et al. Effi cacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol 2010; 8: 174-82.
46. Stuckless S, Green J, Morgenstern M et al. Impact of colonoscopic screening in male and female Lynch syndrome carriers with an MSH2 mutation. Clin Genet 2012; 82: 439-45.
47. 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: 2300-6.
48. de Vos tot Nederveen Cappel W, Nagengast FM, Griffi oen G et al. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study of 114 families. Dis Colon Rectum 2002; 45: 1588-94.
49. 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
50. 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.
51. Win A, Parry S, Parry B et al. Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers. Ann Surg Oncol 2013; 20: 1829-36.
52. Haanstra JF, de Vos Tot Nederveen Cappel WH, Gopie JP et al. Quality of life aft er surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy. Dis Colon Rectum 2012; 55: 653-9.
53. Barrow E, Robinson L, Alduaij W et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet 2009; 75: 141-9.
54. Engel C, Loeffl er M, Steinke V et al. Risks of less common cancers in proven mutation carriers with Lynch syndrome. J Clin Oncol 2012; 30: 4409-15.
55. Watson P, Vasen HF, Mecklin JP et al. The risk of extra-colonic, extraendometrial cancer in the Lynch syndrome. Int J Cancer 2008; 123: 444-9.
56. Dove-Edwin I, Boks D, Goff S et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer 2002; 94: 1708-12.
57. Renkonen-Sinisalo L, Butzow R, Leminen A et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer 2007; 120: 821-4.
58. Schmeler KM, Lynch HT, Chen L-m et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006; 354: 261-9.
59. Yang KY, Caughey AB, Little SE et al. A cost-eff ectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) Families. Fam Cancer 2011; 10: 535-43.
60. Kwon J, Sun C, Peterson S et al. Cost-eff ectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome. Cancer 2008; 113: 326-35.
61. Capelle LG, Van Grieken NC, Lingsma HF et al. Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands Gastroenterology 2010; 138: 487-92.
62. Aarnio M, Salovaara R, Aaltonen LA et al. Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome. Int J Cancer 1997; 74: 551-5.
63. Aarnio M, Sankila R, Pukkala E et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999; 81: 214-8.
64. Vasen H, Stormorken A, Menko F et al. MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 2001; 19: 4074-80.
65. Schulmann K, Brasch FE, Kunstmann E et al. HNPCC-associated small bowel cancer: clinical and molecular characteristics. Gastroenterology 2005; 128: 590-9.
66. Saurin J-C, Pilleul F, Soussan E et al. Small-bowel capsule endoscopy diagnoses early and advanced neoplasms in asymptomatic patients with Lynch syndrome. Endoscopy 2010; 42: 1057-62.
67. Van der Post R, Kiemeney L, Ligtenberg M et al. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet 2010; 47: 464-70.
68. Myrhoj T, Andersen M-B, Bernstein I. Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Fam Cancer 2008; 7: 303-7.
69. USPSTF. US Preventive Services Task Force. Guide to Clinical Preventive Services-17. Screening for Bladder Cancer,: 1996, [cited; 2nd Edition [181-186] Available from http://odphp. osophs. dhhs. gov/pubs/guidecps/ PDF/CH17. PDF
70. Theriault GP, Tremblay CG, Armstrong BG. Bladder cancer screening among primary aluminum production workers in Quebec. J Occup Environ Med 1990; 32: 869.
71. Win AK, Young JP, Lindor NM 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: 958-64.
72. 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 Biomark Prev 2008; 17: 2044-51.
73. Canto MI, Harinck F, Hruban RH 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: 339-47.
74. Muller A, Edmonston TB, Corao DA et al. Exclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer. Cancer Res 2002; 62: 1014-9.
75. Vasen H, Morreau H, Nortier J. Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer? Am J Hum Genet 2001; 68: 1533.
76. 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.
77. Winkels RM, Botma A, Van Duijnhoven FJ et al. Smoking increases the risk for colorectal adenomas in patients with Lynch syndrome. Gastroenterology 2012; 142: 241-7.
78. Botma A, Nagengast FM, Braem MG et al. Body mass index increases risk of colorectal adenomas in men with Lynch syndrome: the GEOLynch cohort study. J Clin Oncol 2010; 28: 4346-53.
79. Mathers JC, Movahedi M, Macrae F et al. Long-term eff ect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet Oncol 2012; 13: 1242-9.
80. Burn J, Gerdes A-M, Macrae F et al. Long-term eff ect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 2012; 378: 2081-7.
81. Bussey HJR. Familial Polyposis Coli. Family Studies, Histopathology, Diff erential Diagnosis and Results of Treatment Johns Hopkins University Press: Baltimore, 1975.
82. Jarvinen HJ. Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival. Gut 1992; 33: 357-60.
83. Bulow S, Faurschou Nielsen T, Bulow C et al. The incidence rate of familial adenomatous polyposis. Results from the Danish Polyposis Register. Int J Colorectal Dis 1996; 11: 88-91
84. Bisgaard ML, Fenger K, Bulow S et al. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994; 3: 121-5.
85. Bjork J, Akerbrant H, Iselius L et al. Epidemiology of familial adenomatous polyposis in Sweden: changes over time and diff erences in phenotype between males and females. Scand J Gastroenterol 1999; 34: 1230-5.
86. Iwama T, Tamura K, Morita T et al. A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan. Int J Clin Oncol 2004; 9: 308-16.
87. Scheuner MT, McNeel TS, Freedman AN. Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey. Genet Med 2010; 12: 726-35.
88. Hernegger GS, Moore HG, Guillem JG. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum 2002; 45: 127-34. discussion 134-6
89. Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003; 2: 43-55
90. Burt RW, Leppert MF, Slattery ML et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004; 127: 444-51.
91. Al-Tassan N, Chmiel NH, Maynard J et al. Inherited variants of MYH associated with somatic G:C-T:A mutations in colorectal tumors. Nat Genet 2002; 30: 227-32.
92. Perchiniak EM, Groden J. Mechanisms regulating microtubule binding, DNA replication, and apoptosis are controlled by the intestinal tumor suppressor APC. Curr Colorectal Cancer Rep 2011; 7: 145-51.
93. Burt R, Neklason DW. Genetic testing for inherited colon cancer. G astroenterology 2005; 128: 1696-716.
94. Aretz S, Uhlhaas S, Caspari R et al. Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet 2004; 12: 52-8.
95. Aretz S, Stienen D, Friedrichs N et al. Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). H um Mutat 2007; 2 8: 9 85-9 2.
96. Hes FJ, Nielsen M, Bik EC et al. Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut 2008; 57: 71-6.
97. Schwab AL, Tuohy TM, Condie M et al. Gonadal mosaicism and familial adenomatous polyposis. Fam Cancer 2008; 7: 173-7.
98. Tuohy TM, Burt RW. Somatic mosaicism: a cause for unexplained cases of FAP? Gut 2008; 57: 10-12.
99. Chung DC. The genetic basis of colorectal cancer: insights into critical pathways of tumorigenesis. Gastroenterology 2000; 119: 854-65.
100. Nagase H, Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat 1993; 2: 425-34.
101. Groves C, Lamlum H, Crabtree M et al. Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol 2002; 160: 2055-61.
102. 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.
103. Nielsen M, Bik E, Hes FJ et al. Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review. Eur J Hum Genet 2007; 15: 1034-42.
104. 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.
105. Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol 2004; 2: 633-8.
106. Halford SE, Rowan AJ, Lipton L et al. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol 2003; 162: 1545-8.
107. Nielsen M, Morreau H, Vasen HF et al. MUTYH-associated polyposis (MAP). Crit Rev Oncol Hematol 2011; 79: 1-16.
108. Jones S, Emmerson P, Maynard J et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-T:A mutations. Hum Mol Genet 2002; 11: 2961-7.
109. Sampson JR, Dolwani S, Jones S et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. The Lancet 2003; 362: 39-41
110. Enholm S, Hienonen T, Suomalainen A et al. Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol 2003; 163: 827-32.
111. Filipe B, Baltazar C, Albuquerque C et al. APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. Clin Genet 2009; 76: 242-55.
112. Wang L, Baudhuin LM, Boardman LA et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 2004; 127: 9-16.
113. Jo W-S, Bandipalliam P, Shannon KM et al. Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol 2005; 3: 1022-8.
114. Venesio T, Molatore S, Cattaneo F et al. High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology 2004; 126: 1681-5.
115. Knopperts AP, Nielsen M, Niessen RC et al. Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. Fam Cancer 2013; 12: 43-50
116. Farrington SM, Tenesa A, Barnetson R et al. Germline susceptibility to colorectal cancer because of base-excision repair gene defects. Am J Hum Genet 2005; 77: 112-9.
117. Palles C, Cazier JB, Howarth KM et al. Germline mutations aff ecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2012; 45: 136-44.
118. Valle L, Hernández-Illán E, Bellido F et al. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet 2014; 23: 3506-12.
119. Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 1991; 100: 1658-64.
120. Giardiello FM, Krush AJ, Petersen GM et al. Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology 1994; 106: 1542-7.
121. Roncucci L, Stamp D, Medline A et al. Identifi cation and quantifi cation of aberrant crypt foci and microadenomas in the human colon. Hum Pathol 1991; 22: 287-94.
122. Jang YS, Steinhagen RM, Heimann TM. Colorectal cancer in familial adenomatous polyposis. Dis Colon Rectum 1997; 40: 312-6.
123. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001; 121: 198-213
124. Burt RW. Colon cancer screening. Gastroenterology 2000; 119: 837-53.
125. Guillem JG, Smith AJ, Culle J et al. Gastrointestinal polyposis syndromes. Curr Probl Surg 1999; 36: 217-323
126. Jasperson KW, Tuohy TM, Neklason DW et al. Hereditary and familial colon cancer. Gastroenterology 2010; 138: 2044-58.
127. Vasen HF, Moslein G, Alonso A et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008; 57: 704-13.
128. Bjork JA, Akerbrant HI, Iselius LE et al. Risk factors for rectal cancer morbidity and mortality in patients with familial adenomatous polyposis aft er colectomy and ileorectal anastomosis. Dis Colon Rectum 2000; 43: 1719-25.
129. Bulow S. Results of national registration of familial adenomatous polyposis Gut 2003; 52: 742-6.
130. Heiskanen I, Luostarinen T, Jarvinen HJ. Impact of screening examinations on survival in familial adenomatous polyposis. Scand J Gastroenterol 2000; 35: 1284-7.
131. Gibbons DC, Sinha A, Phillips RK et al. Colorectal cancer: no longer the issue in familial adenomatous polyposis? Fam Cancer 2011; 10: 11-20.
132. Friedl W, Caspari R, Sengteller M et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001; 48: 515-21.
133. Cleary SP, Cotterchio M, Jenkins MA et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 2009; 136: 1251-60.
134. Nielsen M, Joerink-van de Beld MC, Jones N et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis. Gastroenterology 2009; 136: 471-6.
135. Lubbe SJ, Di Bernardo MC, Chandler IP et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol 2009; 27: 3975-80.
136. 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: 2014-8.
137. da Luz Moreira A, Church JM, Burke CA. The evolution of prophylactic colorectal surgery for familial adenomatous polyposis. Dis Colon Rectum 2009; 52: 1481-6.
138. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol 2006; 101: 385-98.
139. Nieuwenhuis MH, Bulow S, Bjork J et al. Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery. Dis Colon Rectum 2009; 52: 1259-63.
140. Kartheuser A, Stangherlin P, Brandt D et al. Restorative proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer 2006; 5: 241-60.
141. Saurin JC, Napoleon B, Gay G et al. Endoscopic management of patients with familial adenomatous polyposis (FAP) following a colectomy. Endoscopy 2005; 37: 499-501
142. Smith JC, Schaff er MW, Ballard BR et al. Adenocarcinomas aft er prophylactic surgery for familial adenomatous polyposis. J Cancer Ther 2013; 4: 260-70.
143. Ooi BS, Remzi FH, Gramlich T et al. Anal transitional zone cancer aft er restorative proctocolectomy and ileoanal anastomosis in familial adenomatous polyposis: report of two cases. Dis Colon Rectum 2003; 46: 1418-23. discussion 1422-3
144. Bulow S, Bjork J, Christensen IJ et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut 2004; 53: 381-6.
145. Lopez-Ceron M, van den Broek FJ, Mathus-Vliegen EM et al. The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis. Gastrointest Endosc 2013; 77: 542-50.
146. Bjork J, Akerbrant H, Iselius L et al. Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology 2001; 121: 1127-35.
147. Latchford AR, Neale KF, Spigelman AD et al. Features of duodenal cancer in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 2009; 7: 659-63.
148. Drini M, Speer A, Dow C et al. Management of duodenal adenomatosis in FAP: single centre experience. Fam Cancer 2012; 11: 167-73.
149. Iaquinto G, Fornasarig M, Quaia M et al. Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis. Gastrointest Endosc 2008; 67: 61-7.
150. Tulchinsky H, Keidar A, Strul H et al. Extracolonic manifestations of familial adenomatous polyposis aft er proctocolectomy. Arch Surg 2005; 140: 159-63. discussion 164
151. Spigelman AD, Phillips RKS. The upper gastrointestinal tract. In: Phillips RKS, Spigelman AD, Thomason JPS (eds) Familial Adenomatous Polyposis and Other Syndromes Edward Arnold: London, 1994, pp 106.
152. Tytgat GN. Surveillance of familial adenomatous polyposis patients aft er ileorectal anastomosis or ileoanal pouch anastomosis. Gastrointest Endosc Clin N Am 1997; 7: 111-27.
153. Alderlieste YA, Rauws EA, Mathus-Vliegen EM et al. Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis. Fam Cancer 2013; 12: 51-6.
154. Spigelman AD, Williams CB, Talbot IC et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989; 2: 783-5.
155. Groves CJ, Saunders BP, Spigelman AD et al. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut 2002; 50: 636-41.
156. Saurin JC, Gutknecht C, Napoleon B et al. Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease. J Clin Oncol 2004; 22: 493-8.
157. Burt RW. Gastric fundic gland polyps. Gastroenterology 2003; 125: 1462-9.
158. Weston BR, Helper DJ, Rex DK. Positive predictive value of endoscopic features deemed typical of gastric fundic gland polyps. J Clin Gastroenterol 2003; 36: 399-402
159. Bianchi LK, Burke CA, Bennett AE et al. Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008; 6: 180-5.
160. Zwick A, Munir M, Ryan CK et al. Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli. Gastroenterology 1997; 113: 659-63.
161. Hofgartner WT, Thorp M, Ramus MW et al. Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. Am J Gastroenterol 1999; 94: 2275-81.
162. Attard TM, Giardiello FM, Argani P et al. Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. J Pediatr Gastroenterol Nutr 2001; 32: 215-8.
163. Sawada T, Muto T. Role of upper gastrointestinal surveillance in patients with familial adenomatous polyposis. Gastrointest Endosc Clin N Am 1997; 7: 99-111.
164. Wallace MH, Phillips RK. Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg 1998; 85: 742-50.
165. Kadmon M, Tandara A, Herfarth C. Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register. Int J Colorectal Dis 2001; 16: 63-75
166. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN GuidelinesR). Colorectal Cancer Screening V. 1. 2010. c National Comprehensive Cancer Network, Inc 2014. All rights reserved. [cited 2014 March 13]; To view the most recent and complete version of the guideline, go online to NCCN. org. NATIONAL COMPREHENSIVE CANCER NETWORKR, NCCNR, NCCN GUIDELINESR, and all other NCCN Content are trademarks owned by the National Comprehensive Cancer Network, Inc]. Available from http://www. nccn. org/professionals/ physician-gls/f-guidelines. asp.
167. Kurtz RC, Sternberg SS, Miller HH et al. Upper gastrointestinal neoplasia in familial polyposis. Dig Dis Sci 1987; 32: 459-65.
168. Jagelman DG, DeCosse JJ, Bussey HJ. Upper gastrointestinal cancer in familial adenomatous polyposis. Lancet 1988; 1: 1149-51.
169. Walsh N, Qizilbash A, Banerjee R et al. Biliary neoplasia in Gardner's syndrome. Arch Pathol Lab Med 1987; 111: 76-7.
170. Brevet M, Brehant O, Dumont F et al. [Adenomatous polyposis of the gallbladder and Gardner's syndrome. A rare association]. Gastroenterol Clin Biol 2007; 31: 425-7.
171. Herraiz M, Barbesino G, Faquin W et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 2007; 5: 367-73.
172. Cetta F, Montalto G, Gori M et al. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metabol 2000; 85: 286-92.
173. Giardiello FM, Petersen GM, Brensinger JD et al. Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut 1996; 39: 867-9.
174. Vogt S, Jones N, Christian D et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137: 1976-85.
175. Parc YR, Olschwang S, Desaint B et al. Familial adenomatous polyposis: prevalence of adenomas in the ileal pouch aft er restorative proctocolectomy Ann Surg 2001; 233: 360-4.
176. Groves CJ, Beveridge G, Swain DJ et al. Prevalence and morphology of pouch and ileal adenomas in familial adenomatous polyposis. Dis Colon Rectum 2005; 48: 816-23.
177. Friederich P, de Jong AE, Mathus-Vliegen LM et al. Risk of developing adenomas and carcinomas in the ileal pouch in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008; 6: 1237-42.
178. Tajika M, Nakamura T, Nakahara O et al. Prevalence of adenomas and carcinomas in the ileal pouch aft er proctocolectomy in patients with familial adenomatous polyposis. J Gastrointest Surg 2009; 13: 1266-73.
179. Campos FG, Imperiale AR, Seid VE et al. Rectal and pouch recurrences aft er surgical treatment for familial adenomatous polyposis. J Gastrointest Surg 2009; 13: 129-36.
180. Church J. Ileoanal pouch neoplasia in familial adenomatous polyposis: an underestimated threat. Dis Colon Rectum 2005; 48: 1708-13.
181. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. A syndrome of diagnostic signifi cance. N Engl J Med 1949; 241: 993.
182. Beggs AD, Latchford AR, Vasen HF et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010; 59: 975-86.
183. Schreibman IR, Baker M, Amos C et al. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol 2005; 100: 476-90.
184. Jasperson K, Kohlmann W, Burt R. Inherited risk for colorectal cancer: practical approaches for identifi cation, referral and management. Pract Gastroenterol 2007; 31: 37.
185. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006; 4: 408-15.
186. McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol 2000; 95: 596-604
187. Amos CI, Keitheri-Cheteri MB, Sabripour M, et al. Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Hum Genet 2004; 41: 327-33.
188. van Lier MG, Mathus-Vliegen EM, Wagner A et al. High cumulative risk of intussusception in patients with peutz-jeghers syndrome: time to update surveillance guidelines? Am J Gastroenterol 2011; 106: 940-5.
189. Aretz S, Stienen D, Uhlhaas S et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005; 26: 513-9.
190. Volikos E, Robinson J, Aittomaki K et al. LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. J Med Genet 2006; 43: e18.
191. Mehenni H, Resta N, Guanti G et al. Molecular and clinical characteristics in 46 families aff ected with Peutz-Jeghers syndrome. Dig Dis Sci 2007; 52: 1924-33.
192. Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin North Am 2008; 88: 779-817 vii
193. Gammon A, Jasperson K, Kohlmann W et al. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol 2009; 23: 219-31.
194. Hearle N, Schumacher V, Menko FH et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006; 12: 3209-15.
195. Mehenni H, Resta N, Park JG et al. Cancer risks in LKB1 germline mutation carriers. Gut 2006; 55: 984-90.
196. van Lier MG, Wagner A, Mathus-Vliegen EM et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations Am J Gastroenterol 2010; 105: 1258-64. author reply 1265
197. Giardiello FM, Brensinger JD, Tersmette AC et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000; 119: 1447-53.
198. Lim W, Olschwang S, Keller JJ et al. Relative frequency and morphology of cancers in stk11 mutation carriers. Gastroenterology 2004; 126: 1788-94.
199. Ulbright TM, Amin MB, Young RH. Intratubular large cell hyalinizing sertoli cell neoplasia of the testis: a report of 8 cases of a distinctive lesion of the Peutz-Jeghers syndrome. Am J Surg Pathol 2007; 31: 827-35.
200. You YN, Wolff BG, Boardman LA et al. Peutz-Jeghers syndrome: a study of long-term surgical morbidity and causes of mortality. Fam Cancer 2010; 9: 609-16.
201. Amaro R, Diaz G, Schneider J et al. Peutz-Jeghers syndrome managed with a complete intraoperative endoscopy and extensive polypectomy. Gastrointest Endosc 2000; 52: 552-4.
202. Parsi MA, Burke CA. Utility of capsule endoscopy in Peutz-Jeghers syndrome Gastrointest Endosc Clin N Am 2004; 14: 159-67.
203. Burke CA, Santisi J, Church J et al. The utility of capsule endoscopy small bowel surveillance in patients with polyposis. Am J Gastroenterol 2005; 100: 1498-502.
204. Ohmiya N, Taguchi A, Shirai K et al. Endoscopic resection of Peutz-Jeghers polyps throughout the small intestine at double-balloon enteroscopy without laparotomy. Gastrointest Endosc 2005; 61: 140-7.
205. May A, Nachbar L, Ell C. Double-balloon enteroscopy (push-and-pull enteroscopy) of the small bowel: feasibility and diagnostic and therapeutic yield in patients with suspected small bowel disease. Gastrointest Endosc 2005; 62: 62-70
206. Udd L, Katajisto P, Rossi DJ et al. Suppression of Peutz-Jeghers polyposis by inhibition of cyclooxygenase-2. Gastroenterology 2004; 127: 1030-7.
207. Wei C, Amos CI, Zhang N et al. Suppression of Peutz-Jeghers polyposis by targeting mammalian target of rapamycin signaling. Clin Cancer Res 2008; 14: 1167-71.
208. Chow E, Macrae F. A review of juvenile polyposis syndrome. J Gastroenterol Hepatol 2005; 20: 1634-40.
209. Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterol Clin North Am 2002; 31: 1107-31.
210. Latchford AR, Neale K, Phillips RK et al. Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. Dis Colon Rectum 2012; 55: 1038-43.
211. Howe JR, Bair JL, Sayed MG et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet 2001; 28: 184-7.
212. Howe JR, Ringold JC, Summers RW et al. A gene for familial juvenile polyposis maps to chromosome 18q21. 1. Am J Hum Genet 1998; 62: 1129-36.
213. Howe JR, Roth S, Ringold JC et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998; 280: 1086-8.
214. Zhou XP, Woodford-Richens K, Lehtonen R et al. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet 2001; 69: 704-11.
215. Aretz S, Stienen D, Uhlhaas S et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 2007; 44: 702-9.
216. Calva-Cerqueira D, Dahdaleh FS, Woodfi eld G et al. Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis. Hum Mol Genet 2010; 19: 4654-62.
217. van Hattem WA, Brosens LA, de Leng WW et al. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut 2008; 57: 623-7.
218. He XC, Zhang J, Tong WG et al. BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling. Nat Genet 2004; 36: 1117-21.
219. Hardwick JC, Van Den Brink GR, Bleuming SA et al. Bone morphogenetic protein 2 is expressed by, and acts upon, mature epithelial cells in the colon. Gastroenterology 2004; 126: 111-21.
220. Brosens LA, van Hattem A, Hylind LM et al. Risk of colorectal cancer in juvenile polyposis. Gut 2007; 56: 965-7.
221. Aaltonen LA, Jass JR, Howe JR. Juvenile polyposis. In: Hamilton SR, Aaltonen LA (eds) World Health Organization Classifi cation of Tumours. Pathology and Genetics of Tumours of the Digestive System IARC Press: Lyon, 2000, pp 130-2.
222. Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA. Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol 2001; 8: 319-27.
223. Oncel M, Church JM, Remzi FH et al. Colonic surgery in patients with juvenile polyposis syndrome: a case series. Dis Colon Rectum 2005; 48: 49-55 discussion 55-6
224. 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: 1927-33.
225. Stanich PP, Owens VL, Sweetser S et al. Colonic polyposis and neoplasia in Cowden syndrome. Mayo Clin Proc 2011; 86: 489-92.
226. Trufant JW, Greene L, Cook DL et al. Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review. Hum Pathol 2012; 43: 601-4.
227. Levi Z, Baris HN, Kedar I et al. Upper and lower gastrointestinal fi ndings in PTEN mutation-positive Cowden syndrome patients participating in an active surveillance program. Clin Transl Gastroenterol 2011; 17: 4.
228. Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns 2009; 18: 13-27.
229. McGarrity TJ, Wagner Baker MJ, Ruggiero FM et al. GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations. Am J Gastroenterol 2003; 98: 1429-34.
230. Al-Th ihli K, Palma L, Marcus V et al. A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis. Nat Clin Pract Gastroenterol Hepatol 2009; 6: 184-9.
231. Liaw D, Marsh DJ, Li J et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997; 16: 64-7.
232. Lynch ED, Ostermeyer EA, Lee MK et al. Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis Am J Hum Genet 1997; 61: 1254-60.
233. Nelen MR, Padberg GW, Peeters EA et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996; 13: 114-6.
234. Nelen MR, van Staveren WC, Peeters EA et al. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997; 6: 1383-7.
235. Tan MH, Mester JL, Ngeow J et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 2012; 18: 400-7.
236. Riegert-Johnson DL, Gleeson FC, Roberts M et al. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract 2010; 8: 1897-4287
237. Hyman NH, Anderson P, Blasyk H. Hyperplastic polyposis and the risk of colorectal cancer. Dis Colon Rectum 2004; 47: 2101-4.
238. Leggett BA, Devereaux B, Biden K et al. Hyperplastic polyposis: association with colorectal cancer. Am J Surg Pathol 2001; 25: 177-84.
239. 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
240. Burt R, Jass JR. Hyperplastic polyposis. In: Hamilton SR, Aaltonen LA (eds) World Health Organization Classifi cation of Tumours. Pathology and Genetics of Tumours of the Digestive System IARC Press: Lyon, 2000, pp 135-6.
241. Chow E, Lipton L, Lynch E et al. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 2006; 131: 30-9.
242. Snover DC, Ahnen DJ, Burt RW et al. Serrated polyps of the colon and rectum and serrated polyposis. In: Bosman FT, Carneiro F, Hruban RH et al. (eds) WHO Classifi cation of Tumours of the Digestive System International Agency for Research on Cancer (IARC): Lyon, 2010, pp 160-5.
243. Orlowska J. Hyperplastic polyposis syndrome and the risk of colorectal cancer. Gut 2012; 61: 470-1.
244. Biswas S, Ellis AJ, Guy R et al. High prevalence of hyperplastic polyposis syndrome (serrated polyposis) in the NHS bowel cancer screening programme. Gut 2013; 62: 475.
245. Moreira L, Pellise M, Carballal S et al. High prevalence of serrated polyposis syndrome in FIT-based colorectal cancer screening programmes. Gut 2013; 62: 476-7.
246. Buchanan D, Young J. A perspective on bi-allelic MUTYH mutations in patients with hyperplastic polyposis syndrome. Gastroenterology 2009; 136: 2407-8. 2009
247. Walker RG, Landmann JK, Hewett DG et al. Hyperplastic polyposis syndrome is associated with cigarette smoking, which may be a modifi able risk factor. Am J Gastroenterol 2010; 105: 1642-7.
248. Buchanan DD, Sweet K, Drini M et al. Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study. Int J Colorectal Dis 2010; 25: 703-12.
249. Kalady MF, Jarrar A, Leach B et al. Defi ning phenotypes and cancer risk in hyperplastic polyposis syndrome. Dis Colon Rectum 2011; 54: 164-70.
250. Win AK, Walters RJ, Buchanan DD et al. Cancer risks for relatives of patients with serrated polyposis. Am J Gastroenterol 2012; 107: 770-8.
251. Lanspa SJ, Ahnen DJ, Lynch HT. Editorial: serrated polyposis: the last (or only the latest?) frontier of familial polyposis? Am J Gastroenterol 2012; 107: 779-81.
252. Rosty C, Parry S, Young JP. Serrated polyposis: an enigmatic model of colorectal cancer predisposition. Patholog Res Int 2011; 2011: 157073.
253. 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 2009; 59: 1094-100.
254. Rosty C, Buchanan DD, Walsh MD et al. Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics. Am J Surg Pathol 2012; 36: 876-82.
255. Rosty C, Walsh MD, Walters RJ et al. Multiplicity and molecular heterogeneity of colorectal carcinomas in individuals with serrated polyposis Am J Surg Pathol 2013; 37: 434-42. 10. 1097/PAS. 0b013e318270f748
256. Young JP, Parry S. Risk factors: hyperplastic polyposis syndrome and risk of colorectal cancer. Nat Rev Gastroenterol Hepatol 2010; 7: 594-5.
257. Hazewinkel Y, Reitsma JB, Nagengast FM et al. Extracolonic cancer risk in patients with serrated polyposis syndrome and their fi rst-degree relatives. Fam Cancer 2013; 12: 669-73.
258. Oquinena S, Guerra A, Pueyo A et al. Serrated polyposis: prospective study of fi rst-degree relatives. Eur J Gastroenterol Hepatol 2013; 25: 28-32
259. Boparai KS, Reitsma JB, Lemmens V et al. Increased colorectal cancer risk in fi rst-degree relatives of patients with hyperplastic polyposis syndrome. Gut 2010; 59: 1222-5.
260. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High Risk Assessment: Colorectal V. 1. 2013. National Comprehensive Cancer Network, Inc 2014. All rights reserved. [cited 2014 March 13]; To view the most recent and complete version of the guideline, go online to NCCN. org. NATIONAL COMPREHENSIVE CANCER NETWORK, NCCN, NCCN GUIDELINES, and all other NCCN Content are trademarks owned by the National Comprehensive Cancer Network, Inc]. Available from http://www. nccn. org/professionals/physician-gls/f-guidelines. asp
261. Leachman SA, Carucci J, Kohlmann W et al. Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad Dermatol 2009; 61: 677-e1-677. e14
262. Brand RE, Lerch MM, Rubinstein WS et al. Advances in counselling and surveillance of patients at risk for pancreatic cancer. Gut 2007; 56: 1460-9.
263. Ellis I, Lerch MM, Whitcomb DC. Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues. Pancreatology 2001; 1: 405-15.
264. Lowenfels AB, Maisonneuve P, DiMagno EP et al. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J Natl Cancer Inst 1997; 89: 442-6.
265. Vasen HF, Gruis NA, Frants RR et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associ ated with a specifi c 19 deletion of p16 (p16-Leiden). Int J Cancer 2000; 87: 8 09-1 1.
266. Goldstein AM, Fraser MC, Struewing JP et al. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 1995; 333: 970-4.
267. Borg A, Sandberg T, Nilsson K et al. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000; 92: 1260-6.
268. Thompson D, Easton DF. Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002; 94: 1358-65.
269. BCLC. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999; 91: 1310-6.
270. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ et al. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 2005; 42: 711-9.
271. Kastrinos F, Mukherjee B, Tayob N et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA 2009; 302: 1790-5.
272. Geoff roy-Perez B, Janin N, Ossian K et al. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 2001; 93: 288-93.
273. Brand RE, Lynch HT. Hereditary pancreatic adenocarcinoma: a clinical perspective. Med Clin N Am 2000; 84: 665-75.
274. Permuth-Wey J, Egan KM. Family history is a signifi cant risk factor for pancreatic cancer: results from a systematic review and meta-analysis. Fam Cancer 2009; 8: 109-17.
275. Klein AP, Beaty TH, Bailey-Wilson JE et al. Evidence for a major gene infl uencing risk of pancreatic cancer. Genet Epidemiol 2002; 23: 133-49.
276. Klein AP, Brune KA, Petersen GM et al. Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds. Cancer Res 2004; 64: 2634-8.
277. Brune KA, Lau B, Palmisano E et al. Importance of age of onset in pancreatic cancer kindreds. J Natl Cancer Inst 2010; 102: 119-26.
278. Wang W, Chen S, Brune KA et al. PancPRO: risk assessment for individuals with a family history of pancreatic cancer. J Clin Oncol 2007; 25: 1417-22.
279. Lal G, Liu G, Schmocker B et al. Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations. Cancer Res 2000; 60: 409-16.
280. McWilliams RR, Wieben ED, Rabe KG et al. Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. Eur J Hum Genet 2011; 19: 472-8.
281. Ghiorzo P, Fornarini G, Sciallero S et al. CDKN2A is the main susceptibility gene in Italian pancreatic cancer families. J Med Genet 2012; 49: 164-70.
282. Pogue-Geile KL, Chen R, Bronner MP et al. Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism. PLoS Med 2006; 3: e516.
283. Roberts NJ, Jiao Y, Yu J et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2012; 2: 41-6.
284. Harinck F, Kluijt I, van Mil SE et al. Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated. Eur J Hum Genet 2012; 20: 577-9.
285. Jones S, Hruban RH, Kamiyama M et al. Exomic sequencing identifi es PALB2 as a pancreatic cancer susceptibility gene. Science 2009; 324: 217.
286. Axilbund JE, Argani P, Kamiyama M et al. Absence of germline BRCA1 mutations in familial pancreatic cancer patients. Cancer Biol Ther 2009; 8: 131-5.
287. Couch FJ, Johnson MR, Rabe KG et al. The prevalence of BRCA2 mutations in familial pancreatic cancer. Cancer Epidemiol Biomarkers Prev 2007; 16: 342-6.
288. Schneider R, Slater EP, Sina M et al. German national case collection for familial pancreatic cancer (FaPaCa): ten years experience. Fam Cancer 2011; 10: 323-30.
289. Klein AP, Borges M, Griffi th M et al. Absence of deleterious palladin mutations in patients with familial pancreatic cancer. Cancer Epidemiol Biomarkers Prev 2009; 18: 1328-30.
290. Slater E, Amrillaeva V, Fendrich V et al. Palladin mutation causes familial pancreatic cancer: absence in European families. PLoS Med 2007; 4: e164.
291. ACS. American Cancer Society. Cancer Facts & Figures 2013. 2013 [cited] Available from http://www. cancer. org/acs/groups/content/ @epidemiologysurveilance/documents/document/acspc-036845. pdf.
292. Bartsch DK, Gress TM, Langer P. Familial pancreatic cancer-current knowledge. Nat Rev Gastroenterol Hepatol 2012; 9: 445-53.
293. Grover S, Syngal S. Hereditary pancreatic cancer. Gastroenterology 2010; 139: 1076-80.
294. Nishihara R, Wu K, Lochhead P et al. Long-term colorectal-cancer incidence and mortality aft er lower endoscopy. N Engl J Med 2013; 369: 1095-105.
295. Canto MI, Hruban RH, Fishman EK et al. Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology 2012; 142: 796-804; quiz e14-5.
296. Ludwig E, Olson SH, Bayuga S et al. Feasibility and yield of screening in relatives from familial pancreatic cancer families. Am J Gastroenterol 2011; 106: 946-54.
297. Anderson MA, Zolotarevsky E, Cooper KL et al. Alcohol and tobacco lower the age of presentation in sporadic pancreatic cancer in a dosedependent manner: a multicenter study. Am J Gastroenterol 2012; 107: 1730-9.
298. Brand RE, Greer JB, Zolotarevsky E et al. Pancreatic cancer patients who smoke and drink are diagnosed at younger ages. Clin Gastroenterol Hepatol 2009; 7: 1007-12.
299. Lowenfels AB, Maisonneuve P, Whitcomb DC et al. Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis. JAMA 2001; 286: 169-70.
300. Vasen HF, Wasser M, van Mil A et al. Magnetic resonance imaging surveillance detects early-stage pancreatic cancer in carriers of a p16-Leiden mutation. Gastroenterology 2011; 140: 850-6.
301. Tanaka M, Fernandez-del Castillo C, Adsay V et al. International consensus guidelines 2012 for the management of IPMN and MCN of the pancreas. Pancreatology 2012; 12: 183-97.
302. Rulyak SJ, Lowenfels AB, Maisonneuve P et al. Risk factors for the development of pancreatic cancer in familial pancreatic cancer kindreds. Gastroenterology 2003; 124: 1292-9.
303. NCI. National Cancer Institute. SEER Cancer Statistics Factsheets: Stomach Cancer. 2013 [cited] Available from http://seer. cancer. gov/ statfacts/html/stomach. html
304. Jones EG. Familial gastric cancer. N Z Med J 1964; 63: 287-96.
305. Seevaratnam R, Coburn N, Cardoso R et al. A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diff use gastric cancer. Gastric Cancer 2012; 15: 10.
306. Guilford P, Hopkins J, Harraway J et al. E-cadherin germline mutations in familial gastric cancer. Nature 1998; 392: 402-5.
307. Gayther SA, Gorringe KL, Ramus SJ et al. Identifi cation of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res 1998; 58: 4086-9.
308. Guilford PJ, Hopkins JB, Grady WM et al. E-cadherin germline mutations defi ne an inherited cancer syndrome dominated by diff use gastric cancer. Hum Mutat 1999; 14: 249-55.
309. Richards FM, McKee SA, Rajpar MH et al. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 1999; 8: 607-10.
310. Blair V, Martin I, Shaw D et al. Hereditary diff use gastric cancer: diagnosis and management. Clin Gastroenterol Hepatol 2006; 4: 262-75.
311. Pharoah PD, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diff use gastric cancer families. Gastroenterology 2001; 121: 1348-53.
312. Fitzgerald RC, Hardwick R, Huntsman D et al. Hereditary diff use gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 2010; 47: 436-44.
313. Brooks-Wilson AR, Kaurah P, Suriano G et al. Germline E-cadherin mutations in hereditary diff use gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet 2004; 41: 508-17.
314. Caldas C, Carneiro F, Lynch HT et al. Familial gastric cancer: overview and guidelines for management. J Med Genet 1999; 36: 873-80.
315. Kaurah P, Huntsman DG. Hereditary diff use gastric cancer. GeneReviews, 4 November 2002 [Updated 21 June 2011] cited; available from http:// www. ncbi. nlm. nih. gov/books/NBK1139/.
316. Iwama T, Mishima Y, Utsunomiya J. The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 1993; 217: 101-8.
317. Lynch HT, Smyrk T, McGinn T et al. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer 1995; 76: 2427-33.
318. Neklason DW, Stevens J, Boucher KM et al. American founder mutation for attenuated familial adenomatous polyposis. Clin Gastroenterol Hepatol 2008; 6: 46-52
319. 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.
320. Giardiello FM, Hamilton SR, Kern SE et al. Colorectal neoplasia in juvenile polyposis or juvenile polyps. Arch Dis Child 1991; 66: 971-5.
321. Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 1998; 5: 751-6.
322. Jass J. Pathology of polyposis syndromes with special reference to juvenile polyposis. In: Utsunomiya J, Lynch H (eds) Hereditary Colorectal Cancer Springer: Japan, 1990, pp 343-50.
323. Jass JR, Williams CB, Bussey HJ et al. Juvenile polyposis-a precancerous condition. Histopathology 1988; 13: 619-30.
324. Marra G, Armelao F, Vecchio FM et al. Cowden's disease with extensive gastrointestinal polyposis. J Clin Gastroenterol 1994; 18: 42-7.
325. Vasen HF, Griffi oen G, Off erhaus GJ 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: 227-30.
326. Nascimbeni R, Pucciarelli S, Di Lorenzo D et al. Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. Dis Colon Rectum 2010; 53: 1670-5.
327. Nielsen M, van Steenbergen LN, Jones N et al. Survival of MUTYHassociated polyposis patients with colorectal cancer and matched control colorectal cancer patients. J Natl Cancer Inst 2010; 102: 1724-30.
328. NCI. National Cancer Institute. SEER Cancer Statistics Review 1975-2010. 2013 [cited; Lifetime risk (percent) of being diagnosed with cancer by site]. Available from http://seer. cancer. gov/csr/1975-2010/results-merged/ topic-lifetime-risk-diagnosis. pdf.
329. Ponti G, Losi L, Pedroni M et al. Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. J Invest Dermatol 2006; 126: 2302-7.
330. Schwartz RA, Torre DP. The Muir-Torre syndrome: a 25-year retrospect. J Am Acad Dermatol 1995; 33: 90-104.
331. South CD, Hampel H, Comeras I et al. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst 2008; 100: 277-81.
332. Grindedal EM, Møller P, Eeles R et al. Germ-line mutations in mismatch repair genes associated with prostate cancer. Cancer Epidemiol Biomark Prev 2009; 18: 2460-7.
333. Heiskanen I, Kellokumpu I, Jarvinen H. Management of duodenal adenomas in 98 patients with familial adenomatous polyposis. Endoscopy 1999; 31: 412-6.
334. Giardiello FM, Off erhaus GJ, Lee DH et al. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut 1993; 34: 1394-6.
335. Truta B, Allen BA, Conrad PG et al. Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Fam Cancer 2003; 2: 95-9.
336. Hamilton SR, Liu B, Parsons RE et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995; 332: 839-47.
337. Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol 1997; 15: 2744-58.
338. Van Meir EG. "Turcot's syndrome": phenotype of brain tumors, survival and mode of inheritance. Int J Cancer 1998; 75: 162-4.
339. Korsse SE, Harinck F, van Lier MG et al. Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance. J Med Genet 2013; 50: 59-64.
340. Chen KT. Female genital tract tumors in Peutz-Jeghers syndrome. Hum Pathol 1986; 17: 858-61.
341. Brownstein MH, Wolf M, Bikowski JB. Cowden's disease: a cutaneous marker of breast cancer. Cancer 1978; 41: 2393-8.
342. Bubien V, Bonnet F, Brouste V et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 2013; 50: 255-63.
343. Starink TM, van der Veen JP, Arwert F et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986; 29: 222-33.
344. Eng C. Cowden syndrome. J Genet Counsel 1997; 6: 181-92.
345. Milas M, Mester J, Metzger R et al. Should patients with Cowden syndrome undergo prophylactic thyroidectomy? Surgery 2012; 152: 1201-10.
346. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000; 37: 828-30.
347. Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again) Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 2004; 41: 323-6.
348. Rijcken FE, Mourits MJ, Kleibeuker JH et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 2003; 91: 74-80
349. Lecuru F, Le Frere Belda MA, Bats AS et al. Performance of offi ce hysteroscopy and endometrial biopsy for detecting endometrial disease in women at risk of human non-polyposis colon cancer: a prospective study. Int J Gynecol Cancer 2008; 18: 1326-31.
350. Gerritzen LH, Hoogerbrugge N, Oei AL et al. Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome. Fam Cancer 2009; 8: 391-7.
351. Stuckless S, Green J, Dawson L et al. Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation. Clin Genet 2013; 83: 359-64.
352. Renkonen-Sinisalo L, Sipponen P, Aarnio M et al. No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scand J Gastroenterol 2002; 37: 574-7.
353. Biasco G, Nobili E, Calabrese C et al. Impact of surgery on the development of duodenal cancer in patients with familial adenomatous polyposis. Dis Colon Rectum 2006; 49: 1860-6.
354. Jarrar AM, Milas M, Mitchell J et al. Screening for thyroid cancer in patients with familial adenomatous polyposis. Ann Surg 2011; 253: 515-21.
355. Latchford AR, Neale K, Phillips RK et al. Peutz-Jeghers syndrome: intriguing suggestion of gastrointestinal cancer prevention from surveillance. Dis Colon Rectum 2011; 54: 1547-51.
356. Brown G, Fraser C, Schofi eld G et al. Video capsule endoscopy in peutzjeghers syndrome: a blinded comparison with barium follow-through for detection of small-bowel polyps. Endoscopy 2006; 38: 385-90.
357. Gupta A, Aft ergate AJ, Burling D et al. A prospective study of MR enterography versus capsule endoscopy for the surveillance of adult patients with Peutz-Jeghers syndrome. AJR Am J Roentgenol 2010; 195: 108-16.
358. Poley JW, Kluijt I, Gouma DJ et al. The yield of fi rst-time endoscopic ultrasonography in screening individuals at a high risk of developing pancreatic cancer. Am J Gastroenterol 2009; 104: 2175-81.
359. 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.
360. Lynch HT, Lynch JF, Lynch PM et al. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer 2008; 7: 27-39.
361. Faughnan ME, Palda VA, Garcia-Tsao G et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011; 48: 73-87.
362. Kastrinos F, Mukherjee B, Tayob N et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA 2009; 302: 1790-5.
363. Slater E, Amrillaeva V, Fendrich V et al. Palladin mutation causes familial pancreatic cancer: absence in European families. PLoS Med 2007; 4: e164.
364. Robson ME, Storm CD, Weitzel J et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2010; 28: 893-901.