1. BusseyHJR. Familial Polyposis Coli. Family Studies, Histopathology, Differential Diagnosis and Results of Treatment. Baltimore: Johns Hopkins University Press; 1975.

2. GardnerEJ, BurtRW, FrestonJW. Gastrointestinal polyposis: syndromes and genetic mechanisms. West J Med1980;132:488.

3. JaspersonKW, TuohyTM, NeklasonDW, et al.Hereditary and familial colon cancer. Gastroenterology2010;138:2044. CrossRef

4. VasenHF, MosleinG, AlonsoA, et al.Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut2008;57:704. CrossRef

5. GaliatsatosP, FoulkesWD. Familial adenomatous polyposis. Am J Gastroenterol2006;101:385. CrossRef

6. JarvinenHJ. Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival. Gut1992;33:357. CrossRef

7. BulowS, Faurschou NielsenT, BulowC, et al.The incidence rate of familial adenomatous polyposis. Results from the Danish Polyposis Register. Int J Colorectal Dis1996;11:88. CrossRef

8. BisgaardML, FengerK, BulowS, et al.Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat1994;3:121. CrossRef

9. BjorkJ, AkerbrantH, IseliusL, et al.Epidemiology of familial adenomatous polyposis in Sweden: changes over time and differences in phenotype between males and females. Scand J Gastroenterol1999;34:1230. CrossRef

10. IwamaT, TamuraK, MoritaT, et al.A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan. Int J Clin Oncol2004;9:308. CrossRef

11. ScheunerMT, McNeelTS, FreedmanAN. Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey. Genet Med2010;12:726. CrossRef

12. AretzS, UhlhaasS, CaspariR, et al.Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet2004;12:52. CrossRef

13. AretzS, StienenD, FriedrichsN, et al.Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Hum Mutat2007;28:985. CrossRef

14. HesFJ, NielsenM, BikEC, et al.Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut2008;57:71. CrossRef

15. SchwabAL, TuohyTM, CondieM, et al.Gonadal mosaicism and familial adenomatous polyposis. Fam Cancer2008;7:173. CrossRef

16. TuohyTM, BurtRW. Somatic mosaicism: a cause for unexplained cases of FAP?Gut2008;57:10. CrossRef

17. PerchiniakEM, GrodenJ. Mechanisms regulating microtubule binding, DNA replication, and apoptosis are controlled by the intestinal tumor suppressor APC. Curr Colorectal Cancer Rep2011;7:145. CrossRef

18. BurtR, NeklasonDW. Genetic testing for inherited colon cancer. Gastroenterology2005;128:1696. CrossRef

19. ChungDC. The genetic basis of colorectal cancer: insights into critical pathways of tumorigenesis. Gastroenterology2000;119:854. CrossRef

20. GossKH, GrodenJ. Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol2000;18:1967.

21. NathkeI. APC at a glance. J Cell Sci2004;117:4873. CrossRef

22. QianJ, SarnaikAA, BonneyTM, et al.The APC tumor suppressor inhibits DNA replication by directly binding to DNA via its carboxyl terminus. Gastroenterology2008;135:152. CrossRef

23. NieuwenhuisMH, VasenHF. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. Crit Rev Oncol Hematol2007;61:153. CrossRef

24. YamashitaYM, JonesDL, FullerMT. Orientation of asymmetric stem cell division by the APC tumor suppressor and centrosome. Science2003;301:1547. CrossRef

25. Etienne‐MannevilleS, HallA. Cdc42 regulates GSK‐3beta and adenomatous polyposis coli to control cell polarity. Nature2003;421:753. CrossRef

26. FlintoffKJ, SheridanE, TurnerG, et al.Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning. J Med Genet2001;38:129. CrossRef

27. AretzS, StienenD, UhlhaasS, et al.Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet2005;42:185. CrossRef

28. MichilsG, TejparS, ThoelenR, et al.Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat2005;25:125. CrossRef

29. NagaseH, NakamuraY. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat1993;2:425. CrossRef

30. GrovesC, LamlumH, CrabtreeM, et al.Mutation cluster region, association between germline and somatic mutations and genotype‐phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol2002;160:2055. CrossRef

31. RenkonenET, NieminenP, Abdel‐RahmanWM, et al.Adenomatous polyposis families that screen APC mutation‐negative by conventional methods are genetically heterogeneous. J Clin Oncol2005;23:5651. CrossRef

32. MeullerJ, Kanter‐SmolerG, NygrenAO, et al.Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques. Genet Test2004;8:248. CrossRef

33. American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol2003;21:2397. CrossRef

34. TrimbathJD, GiardielloFM. Genetic testing and counselling for hereditary colorectal cancer. Aliment Pharmacol Ther2002;16:1843. CrossRef

35. NielsenM, BikE, HesFJ, et al.Genotype‐phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review. Eur J Hum Genet2007;15:1034. CrossRef

36. PetersenGM, SlackJ, NakamuraY. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology1991;100:1658.

37. LiG, TamuraK, YamamotoY, et al.Molecular and clinical study of familial adenomatous polyposis for genetic testing and management. J Exp Clin Cancer Res1999;18:519.

38. FriedlW, CaspariR, SengtellerM, et al.Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut2001;48:515. CrossRef

39. GiardielloFM, KrushAJ, PetersenGM, et al.Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology1994;106:1542.

40. RoncucciL, StampD, MedlineA, et al.Identification and quantification of aberrant crypt foci and microadenomas in the human colon. Hum Pathol1991;22:287. CrossRef

41. BulowS. Results of national registration of familial adenomatous polyposis. Gut2003;52:742. CrossRef

42. GibbonsDC, SinhaA, PhillipsRK, et al.Colorectal cancer: no longer the issue in familial adenomatous polyposis?Fam Cancer2011;10:11. CrossRef

43. DebinskiHS, LoveS, SpigelmanAD, et al.Colorectal polyp counts and cancer risk in familial adenomatous polyposis. Gastroenterology1996;110:1028. CrossRef

44. JangYS, SteinhagenRM, HeimannTM. Colorectal cancer in familial adenomatous polyposis. Dis Colon Rectum1997;40:312. CrossRef

45. BurtRW. Gastric fundic gland polyps. Gastroenterology2003;125:1462. CrossRef

46. BulowS, BjorkJ, ChristensenIJ, et al.Duodenal adenomatosis in familial adenomatous polyposis. Gut2004;53:381. CrossRef

47. WestonBR, HelperDJ, RexDK. Positive predictive value of endoscopic features deemed typical of gastric fundic gland polyps. J Clin Gastroenterol2003;36:399. CrossRef

48. ZwickA, MunirM, RyanCK, et al.Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli. Gastroenterology1997;113:659. CrossRef

49. HofgartnerWT, ThorpM, RamusMW, et al.Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. Am J Gastroenterol1999;94:2275. CrossRef

50. AttardTM, GiardielloFM, ArganiP, et al.Fundic gland polyposis with high‐grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. J Pediatr Gastroenterol Nutr2001;32:215. CrossRef

51. BianchiLK, BurkeCA, BennettAE, et al.Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol2008;6:180. CrossRef

52. WuTT, KornackiS, RashidA, et al.Dysplasia and dysregulation of proliferation in foveolar and surface epithelia of fundic gland polyps from patients with familial adenomatous polyposis. Am J Surg Pathol1998;22:293. CrossRef

53. BertoniG, SassatelliR, NigrisoliE, et al.Dysplastic changes in gastric fundic gland polyps of patients with familial adenomatous polyposis. Ital J Gastroenterol Hepatol1999;31:192.

54. GarreanS, HeringJ, SaiedA, et al.Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. Am Surg2008;74:79.

55. LynchHT, SnyderC, DaviesJM, et al.FAP, gastric cancer, and genetic counseling featuring children and young adults: a family study and review. Fam Cancer2010;9:581. CrossRef

56. AbrahamSC, NobukawaB, GiardielloFM, et al.Sporadic fundic gland polyps: common gastric polyps arising through activating mutations in the beta‐catenin gene. Am J Pathol2001;158:1005. CrossRef

57. SekineS, ShibataT, YamauchiY, et al.Beta‐catenin mutations in sporadic fundic gland polyps. Virchows Arch2002;440:381. CrossRef

58. AbrahamSC, NobukawaB, GiardielloFM, et al.Fundic gland polyps in familial adenomatous polyposis: neoplasms with frequent somatic adenomatous polyposis coli gene alterations. Am J Pathol2000;157:747. CrossRef

59. NakamuraS, MatsumotoT, KoboriY, et al.Impact of Helicobacter pylori infection and mucosal atrophy on gastric lesions in patients with familial adenomatous polyposis. Gut2002;51:485. CrossRef

60. SawadaT, MutoT. Role of upper gastrointestinal surveillance in patients with familial adenomatous polyposis. Gastrointest Endosc Clin N Am1997;7:99.

61. WallaceMH, PhillipsRK. Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg1998;85:742. CrossRef

62. Lopez‐CeronM, van den BroekFJ, Mathus‐VliegenEM, et al.The role of high‐resolution endoscopy and narrow‐band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis. Gastrointest Endosc2013;77:542. CrossRef

63. SpigelmanAD, WilliamsCB, TalbotIC, et al.Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet1989;2:783. CrossRef

64. GrovesCJ, SaundersBP, SpigelmanAD, et al.Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut2002;50:636. CrossRef

65. SaurinJC, GutknechtC, NapoleonB, et al.Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease. J Clin Oncol2004;22:493. CrossRef

66. BjorkJ, AkerbrantH, IseliusL, et al.Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology2001;121:1127. CrossRef

67. LatchfordAR, NealeKF, SpigelmanAD, et al.Features of duodenal cancer in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol2009;7:659. CrossRef

68. DriniM, SpeerA, DowC, et al.Management of duodenal adenomatosis in FAP: single centre experience. Fam Cancer2012;11:167. CrossRef

69. IaquintoG, FornasarigM, QuaiaM, et al.Capsule endoscopy is useful and safe for small‐bowel surveillance in familial adenomatous polyposis. Gastrointest Endosc2008;67:61. CrossRef

70. TulchinskyH, KeidarA, StrulH, et al.Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy. Arch Surg2005;140:159. CrossRef

71. BertarioL, RussoA, SalaP, et al.Multiple approach to the exploration of genotype‐phenotype correlations in familial adenomatous polyposis. J Clin Oncol2003;21:1698. CrossRef

72. SpigelmanAD, PhillipsRKS. The upper gastrointestinal tract. In: PhillipsRKS, SpigelmanAD, ThomasonJPS(eds). Familial Adenomatous Polyposis and Other Syndromes. London: Edward Arnold; 1994: 106.

73. TytgatGN. Surveillance of familial adenomatous polyposis patients after ileorectal anastomosis or ileoanal pouch anastomosis. Gastrointest Endosc Clin N Am1997;7:111.

74. AlderliesteYA, RauwsEA, Mathus‐VliegenEM, et al.Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis. Fam Cancer2013;12:51. CrossRef

75. RuysAT, AlderliesteYA, GoumaDJ, et al.Jejunal cancer in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol2010;8:731. CrossRef

76. FriederichP, de JongAE, Mathus‐VliegenLM, et al.Risk of developing adenomas and carcinomas in the ileal pouch in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol2008;6:1237. CrossRef

77. TajikaM, NakamuraT, NakaharaO, et al.Prevalence of adenomas and carcinomas in the ileal pouch after proctocolectomy in patients with familial adenomatous polyposis. J Gastrointest Surg2009;13:1266. CrossRef

78. CamposFG, ImperialeAR, SeidVE, et al.Rectal and pouch recurrences after surgical treatment for familial adenomatous polyposis. J Gastrointest Surg2009;13:129. CrossRef

79. KurtzRC, SternbergSS, MillerHH, et al.Upper gastrointestinal neoplasia in familial polyposis. Dig Dis Sci1987;32:459. CrossRef

80. JagelmanDG, DeCosseJJ, BusseyHJ. Upper gastrointestinal cancer in familial adenomatous polyposis. Lancet1988;1:1149. CrossRef

81. WalshN, QizilbashA, BanerjeeR, et al.Biliary neoplasia in Gardner's syndrome. Arch Patholol Lab Med1987;111:76.

82. BrevetM, BrehantO, DumontF, et al.[Adenomatous polyposis of the gallbladder and Gardner's syndrome. A rare association]. Gastroenterol Clin Biol2007;31:425. CrossRef

83. GardnerEJ, PlenkHP. Hereditary pattern for multiple osteomas in a family group. Am J Hum Genet1952;4:31.

84. GardnerEJ. Follow‐up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermoid cysts. Am J Hum Genet1962;14:376.

85. BilkayU, ErdemO, OzekC, et al.Benign osteoma with Gardner syndrome: review of the literature and report of a case. J Craniofac Surg2004;15:506. CrossRef

86. WijnMA, KellerJJ, GiardielloFM, et al.Oral and maxillofacial manifestations of familial adenomatous polyposis. Oral Dis2007;13:360. CrossRef

87. BisgaardML, BulowS. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet A2006;140:200. CrossRef

88. BrettMCA, HershmanMJ, GlazerG. Other manifestations of familial adenomatous polyposis. In: PhillipsRKS, SpigelmanAD, ThomasonJPS(eds). Familial Adenomatous Polyposis and Other Polyposis Syndromes. London: Edward Arnold; 1994: 143.

89. TakeuchiT, TakenoshitaY, KuboK, et al.Natural course of jaw lesions in patients with familial adenomatosis coli (Gardner's syndrome). Int J Oral Maxillofac Surg1993;22:226. CrossRef

90. GiardielloFM, OfferhausGJ, TraboulsiEI, et al.Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis. Gut1991;32:1170. CrossRef

91. OfferhausGJ, LevinLS, GiardielloFM, et al.Occult radiopaque jaw lesions in familial adenomatous polyposis coli and hereditary nonpolyposis colorectal cancer. Gastroenterology1987;93:490.

92. KuboK, MiyataniH, TakenoshitaY, et al.Widespread radiopacity of jaw bones in familial adenomatosis coli. J Craniomaxillofac Surg1989;17:350. CrossRef

93. OkuT, TakayamaT, SatoY, et al.A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype‐phenotype correlation in dental abnormality. Eur J Gastroenterol Hepatol2004;16:101. CrossRef

94. GardnerEJ, RichardsRC. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet1953;5:139.

95. SenerSF, MillerHH, DeCosseJJ. The spectrum of polyposis. Surg Gynecol Obstet1984;159:525.

96. BusseyHJ, VealeAM, MorsonBC. Genetics of gastrointestinal polyposis. Gastroenterology1978;74:1325.

97. LeppardBJ. Epidermoid cysts and polyposis coli. Proc R Soc Med1974;67:1036.

98. OldfieldMC. The association of familial polyposis of the colon with multiple sebaceous cysts. Br J Surg1954;41:534. CrossRef

99. PujolRM, CasanovaJM, EgidoR, et al.Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome?Pediatr Dermatol1995;12:331. CrossRef

100. AzzarelliA, GronchiA, BertulliR, et al.Low‐dose chemotherapy with methotrexate and vinblastine for patients with advanced aggressive fibromatosis. Cancer2001;92:1259. CrossRef

101. EscobarC, MunkerR, ThomasJO, et al.Update on desmoid tumors. Ann Oncol2012;23:562. CrossRef

102. ClarkSK, NealeKF, LandgrebeJC, et al.Desmoid tumours complicating familial adenomatous polyposis. Br J Surg1999;86:1185. CrossRef

103. FarmerKCR, HawleyPR, PhillipsRKS. Desmoid disease. In: PhillipsRKS, SpigelmanAD, ThomasonJPS(eds). Familial Adenomatous Polyposis and Other Polyposis Syndromes. London: Edward Arnold; 1994: 128.

104. HeiskanenI, JarvinenHJ. Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment. Int J Colorectal Dis1996;11:157. CrossRef

105. SturtNJH, GallagherMC, BassettP, et al.Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Gut2004;53:1832. CrossRef

106. DurnoC, MongaN, BapatB, et al.Does early colectomy increase desmoid risk in familial adenomatous polyposis?Clin Gastroenterol Hepatol2007;5:1190. CrossRef

107. LatchfordAR, SturtNJ, NealeK, et al.A 10‐year review of surgery for desmoid disease associated with familial adenomatous polyposis. Br J Surg2006;93:1258. CrossRef

108. SinhaA, TekkisPP, GibbonsDC, et al.Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta‐analysis. Colorectal Dis2011;13:1222. CrossRef

109. BertarioL, RussoA, SalaP, et al.Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer2001;95:102. CrossRef

110. NieuwenhuisMH, De Vos Tot Nederveen CappelW, BotmaA, et al.Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol2008;6:215. CrossRef

111. SoraviaC, BerkT, McLeodRS, et al.Desmoid disease in patients with familial adenomatous polyposis. Dis Colon Rectum2000;43:363. CrossRef

112. SinhaA, GibbonsDC, PhillipsRK, et al.Surgical prophylaxis in familial adenomatous polyposis: do pre‐existing desmoids outside the abdominal cavity matter?Fam Cancer2010;9:407. CrossRef

113. SpeakeD, EvansDG, LallooF, et al.Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. Br J Surg2007;94:1009. CrossRef

114. ParcY, PiquardA, DozoisRR, et al.Long‐term outcome of familial adenomatous polyposis patients after restorative coloproctectomy. Ann Surg2004;239:378. CrossRef

115. SturtNJ, ClarkSK. Current ideas in desmoid tumours. Fam Cancer2006;5:275. CrossRef

116. BertagnolliMM, MorganJA, FletcherCD, et al.Multimodality treatment of mesenteric desmoid tumours. Eur J Cancer2008;44:2404. CrossRef

117. FallenT, WilsonM, MorlanB, et al.Desmoid tumors – a characterization of patients seen at mayo clinic 1976–1999. Fam Cancer2006;5:191. CrossRef

118. PhoLN, CoffinCM, BurtRW. Abdominal desmoid in familial adenomatous polyposis presenting as a pancreatic cystic lesion. Fam Cancer2005;4:135. CrossRef

119. ClarkSK, SmithTG, KatzDE, et al.Identification and progression of a desmoid precursor lesion in patients with familial adenomatous polyposis. Br J Surg1998;85:970. CrossRef

120. CalvertGT, MonumentMJ, BurtRW, et al.Extra‐abdominal desmoid tumors associated with familial adenomatous polyposis. Sarcoma2012;2012:726537.

121. SamadderNJ, JaspersonK, BurtRW. A pain in the neck and colon polyps. Gastroenterology2012;142:1073. CrossRef

122. EcclesDM, van der LuijtR, BreukelC, et al.Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet1996;59:1193.

123. ScottRJ, FroggattNJ, TrembathRC, et al.Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3′ APC gene mutation. Hum Mol Genet1996;5:1921. CrossRef

124. CoffinCM, HornickJL, ZhouH, et al.Gardner fibroma: a clinicopathologic and immunohistochemical analysis of 45 patients with 57 fibromas. Am J Surg Pathol2007;31:410. CrossRef

125. KotiligamD, LazarAJ, PollockRE, et al.Desmoid tumor: a disease opportune for molecular insights. Histol Histopathol2008;23:117.

126. TraboulsiEI, KrushAJ, GardnerEJ, et al.Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med1987;316:661. CrossRef

127. TourinoR, Conde‐FreireR, Cabezas‐AgricolaJM, et al.Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis. Int Ophthalmol2004;25:101. CrossRef

128. PainterTA, JagelmanDG. Adrenal adenomas and adrenal carcinomas in association with hereditary adenomatosis of the colon and rectum. Cancer1985;55:2001. CrossRef

129. FerrandezA, PhoL, SolomonC, et al.An evidence‐based, multidisciplinary approach to the clinical considerations, management, and surveillance of adrenal lesions in familial adenomatous polyposis: report of three cases. Dis Colon Rectum2006;49:1781. CrossRef

130. MarchesaP, FazioVW, ChurchJM, et al.Adrenal masses in patients with familial adenomatous polyposis. Dis Colon Rectum1997;40:1023. CrossRef

131. SmithTG, ClarkSK, KatzDE, et al.Adrenal masses are associated with familial adenomatous polyposis. Dis Colon Rectum2000;43:1739. CrossRef

132. YoungWFJr. Clinical practice. The incidentally discovered adrenal mass. N Engl J Med2007;356:601. CrossRef

133. GiardielloFM, HamiltonSR, KrushAJ, et al.Nasopharyngeal angiofibroma in patients with familial adenomatous polyposis. Gastroenterology1993;105:1550. CrossRef

134. ValanzanoR, CuriaMC, AcetoG, et al.Genetic evidence that juvenile nasopharyngeal angiofibroma is an integral FAP tumour. Gut2005;54:1046. CrossRef

135. YoungJ, BarkerM, RobertsonT, et al.A case of myoepithelial carcinoma displaying biallelic inactivation of the tumour suppressor gene APC in a patient with familial adenomatous polyposis. J Clin Pathol2002;55:230. CrossRef

136. MaireF, HammelP, TerrisB, et al.Intraductal papillary and mucinous pancreatic tumour: a new extracolonic tumour in familial adenomatous polyposis. Gut2002;51:446. CrossRef

137. HerraizM, BarbesinoG, FaquinW, et al.Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol2007;5:367. CrossRef

138. CettaF, MontaltoG, GoriM, 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 Metab2000;85:286.

139. GiardielloFM, OfferhausGJA, KrushAJ, et al.Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut1993;34:1394. CrossRef

140. TrutaB, AllenBA, ConradPG, et al.Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Fam Cancer2003;2:95. CrossRef

141. GiardielloFM, PetersenGM, BrensingerJD, et al.Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut1996;39:867. CrossRef

142. AretzS, KochA, UhlhaasS, et al.Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?Pediatr Blood Cancer2006;47:811. CrossRef

143. HirschmanBA, PollockBH, TomlinsonGE. The spectrum of APC mutations in children with hepatoblastoma from familial adenomatous polyposis kindreds. J Pediatr2005;147:263. CrossRef

144. SandersRP, FurmanWL. Familial adenomatous polyposis in two brothers with hepatoblastoma: implications for diagnosis and screening. Pediatr Blood Cancer2006;47:851. CrossRef

145. NieuwenhuisMH, Mathus‐VliegenLM, SlorsFJ, et al.Genotype‐phenotype correlations as a guide in the management of familial adenomatous polyposis. Clin Gastroenterol Hepatol2007;5:374. CrossRef

146. TurcotJ, DespresJ‐P, St. PierreF. Malignant tumors of the central nervous system associated with familial polyposis of the colon. Dis Colon Rectum1959;2:465. CrossRef

147. HamiltonSR, LiuB, ParsonsRE, et al.The molecular basis of Turcot's syndrome. N Engl J Med1995;332:839. CrossRef

148. ParafF, JothyS, Van MeirEG. Brain tumor‐polyposis syndrome: two genetic diseases?J Clin Oncol1997;15:2744.

149. BurtRW, LeppertMF, SlatteryML, et al.Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology2004;127:444. CrossRef

150. HerneggerGS, MooreHG, GuillemJG. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum2002;45:127. CrossRef

151. KnudsenAL, BisgaardML, BulowS. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer2003;2:43. CrossRef

152. GroverS, KastrinosF, SteyerbergEW, et al.Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA2012;308:485. CrossRef

153. NeklasonDW, StevensJ, BoucherKM, et al.American founder mutation for attenuated familial adenomatous polyposis. Clin Gastroenterol Hepatol2008;I6:46. CrossRef

154. CastellsagueE, GonzalezS, GuinoE, et al.Allele‐specific expression of APC in adenomatous polyposis families. Gastroenterology2010;139:439. CrossRef

155. CattaneoF, MolatoreS, MihalatosM, et al.Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. Genet Med2007;9:836. CrossRef

156. SieberO, SegditsasS, KnudsenA, et al.Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly, but depend on the site of the germline mutation. Gut2006.

157. TuohyTM, DoneMW, LewandowskiMS, et al.Large intron 14 rearrangement in APC results in splice defect and attenuated FAP. Hum Genet2010;127:356. CrossRef

158. VenesioT, BalsamoA, SfiligoiC, et al.Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. J Mol Med2007;85:305. CrossRef

159. PallesC, CazierJB, HowarthKM, et al.Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet2013;45:136. CrossRef

160. CaoY, PierettiM, MarshallJ, et al.Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. Am J Gastroenterol2002;97:1822. CrossRef

161. HeiskanenI, LuostarinenT, JarvinenHJ. Impact of screening examinations on survival in familial adenomatous polyposis. Scand J Gastroenterol2000;35:1284. CrossRef

162. ArvanitisML, JagelmanDG, FazioVW, et al.Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum1990;33:639. CrossRef

163. BelchetzLA, BerkT, BapatBV, et al.Changing causes of mortality in patients with familial adenomatous polyposis. Dis Colon Rectum1996;39:384. CrossRef

164. NugentKP, SpigelmanAD, PhillipsRK. Life expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum1993;36:1059. CrossRef

165. NugentKP, SpigelmanAD, PhillipsRK. Risk of extracolonic cancer in familial adenomatous polyposis. Br J Surg1996;83:1121. CrossRef

166. LindorNM. Recognition of genetic syndromes in families with suspected hereditary colon cancer syndromes. Clin Gastroenterol Hepatol2004;2:366. CrossRef

167. BjorkJA, AkerbrantHI, IseliusLE, et al.Risk factors for rectal cancer morbidity and mortality in patients with familial adenomatous polyposis after colectomy and ileorectal anastomosis. Dis Colon Rectum2000;43:1719. CrossRef

168. GiardielloFM, BrensingerJD, PetersenGM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology2001;121:198. CrossRef

169. BurtRW. Colon cancer screening. Gastroenterology2000;119:837. CrossRef

170. GuillemJG, SmithAJ, CulleJ, et al.Gastrointestinal polyposis syndromes. Curr Probl Surg1999;36:217. CrossRef

171. KinneyAY, HickenB, SimonsenSE, et al.Colorectal cancer surveillance behaviors among members of typical and attenuated FAP families. Am J Gastroenterol2007;102:153. CrossRef

172. KadmonM, TandaraA, HerfarthC. Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register. Int J Colorectal Dis2001;16:63. CrossRef

173. AttardTM, CuffariC, TajouriT, et al.Multicenter experience with upper gastrointestinal polyps in pediatric patients with familial adenomatous polyposis. Am J Gastroenterol2004;99:681. CrossRef

174. HondaW, OhmiyaN, HirookaY, et al.Enteroscopic and radiologic diagnoses, treatment, and prognoses of small‐bowel tumors. Gastrointest Endosc2012;76:344. CrossRef

175. TescherP, MacraeFA, SpeerT, et al.Surveillance of FAP: a prospective blinded comparison of capsule endoscopy and other GI imaging to detect small bowel polyps. Hered Cancer Clin Pract2010;8:3. CrossRef

176. ParcYR, OlschwangS, DesaintB, et al.Familial adenomatous polyposis: prevalence of adenomas in the ileal pouch after restorative proctocolectomy. Ann Surg2001;233:360. CrossRef

177. GrovesCJ, BeveridgeG, SwainDJ, et al.Prevalence and morphology of pouch and ileal adenomas in familial adenomatous polyposis. Dis Colon Rectum2005;48:816. CrossRef

178. OoiBS, RemziFH, GramlichT, et al.Anal transitional zone cancer after restorative proctocolectomy and ileoanal anastomosis in familial adenomatous polyposis: report of two cases. Dis Colon Rectum2003;46:1418. CrossRef

179. ChurchJ. Ileoanal pouch neoplasia in familial adenomatous polyposis: an underestimated threat. Dis Colon Rectum2005;48:1708. CrossRef

180. FeinbergSM, JagelmanDG, SarreRG, et al.Spontaneous resolution of rectal polyps in patients with familial polyposis following abdominal colectomy and ileorectal anastomosis. Dis Colon Rectum1988;31:169. CrossRef

181. MorpurgoE, VitaleGC, GalandiukS, et al.Clinical characteristics of familial adenomatous polyposis and management of duodenal adenomas. J Gastrointest Surg2004;8:559. CrossRef

182. BülowC, VasenH, JärvinenH, et al.Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology2000;119:1454. CrossRef

183. NieuwenhuisMH, BulowS, BjorkJ, et al.Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery. Dis Colon Rectum2009;52:1259. CrossRef

184. da Luz MoreiraA, ChurchJM, BurkeCA. The evolution of prophylactic colorectal surgery for familial adenomatous polyposis. Dis Colon Rectum2009;52:1481. CrossRef

185. KartheuserA, StangherlinP, BrandtD, et al.Restorative proctocolectomy and ileal pouch‐anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer2006;5:241. CrossRef

186. de Vos tot Nederveen CappelWH, JarvinenHJ, BjorkJ, et al.Worldwide survey among polyposis registries of surgical management of severe duodenal adenomatosis in familial adenomatous polyposis. Br J Surg2003;90:705. CrossRef

187. BrosensLA, KellerJJ, OfferhausGJ, et al.Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut2005;54:1034. CrossRef

188. BalmforthDC, PhillipsRK, ClarkSK. Advanced duodenal disease in familial adenomatous polyposis: how frequently should patients be followed up after successful therapy?Fam Cancer2012;11:553. CrossRef

189. NieuwenhuisMH, Mathus‐VliegenEM, BaetenCG, et al.Evaluation of management of desmoid tumours associated with familial adenomatous polyposis in Dutch patients. Br J Cancer2011;104:37. CrossRef

190. GegaM, YanagiH, YoshikawaR, et al.Successful chemotherapeutic modality of doxorubicin plus dacarbazine for the treatment of desmoid tumors in association with familial adenomatous polyposis. J Clin Oncol2006;24:102. CrossRef

191. SkapekSX, FergusonWS, GranowetterL, et al.Vinblastine and methotrexate for desmoid fibromatosis in children: results of a Pediatric Oncology Group Phase II Trial. J Clin Oncol2007;25:501. CrossRef

192. RayME, LawrenceTS. Radiation therapy for aggressive fibromatosis (desmoid tumor). J Clin Oncol2006;24:3714. CrossRef

193. ChatzipetrouMA, TzakisAG, PinnaAD, et al.Intestinal transplantation for the treatment of desmoid tumors associated with familial adenomatous polyposis. Surgery2001;129:277. CrossRef

194. Al‐TassanN, ChmielNH, MaynardJ, et al.Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet2002;30:227. CrossRef

195. ClearySP, CotterchioM, JenkinsMA, et al.Germline MutY human homologue mutations and colorectal cancer: a multisite case‐control study. Gastroenterology2009;136:1251. CrossRef

196. SieberOM, LiptonL, CrabtreeM, et al.Multiple colorectal adenomas, classic adenomatous polyposis, and germ‐line mutations in MYH. N Engl J Med2003;348:791. CrossRef

197. WangL, BaudhuinLM, BoardmanLA, et al.MYH mutations in patients with attenuated and classic polyposis and with young‐onset colorectal cancer without polyps. Gastroenterology2004;127:9. CrossRef

198. JoW‐S, BandipalliamP, ShannonKM, et al.Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol2005;3:1022. CrossRef

199. SampsonJR, DolwaniS, JonesS, et al.Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet2003;362:39. CrossRef

200. JonesS, EmmersonP, MaynardJ, et al.Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations. Hum Mol Genet2002;11:2961. CrossRef

201. VenesioT, MolatoreS, CattaneoF, et al.High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology2004;126:1681. CrossRef

202. EnholmS, HienonenT, SuomalainenA, et al.Proportion and phenotype of MYH‐associated colorectal neoplasia in a population‐based series of Finnish colorectal cancer patients. Am J Pathol2003;163:827. CrossRef

203. FarringtonSM, TenesaA, BarnetsonR, et al.Germline susceptibility to colorectal cancer due to base‐excision repair gene defects. Am J Hum Genet2005;77:112. CrossRef

204. KnoppertsAP, NielsenM, NiessenRC, 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 Cancer2013;12:43. CrossRef

205. FilipeB, BaltazarC, AlbuquerqueC, 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 Genet2009;76:242. CrossRef

206. NielsenM, MorreauH, VasenHFA, et al.MUTYH‐associated polyposis (MAP). Crit Rev Oncol Hematol2011;79:1. CrossRef

207. LiptonL, TomlinsonI. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol2004;2:633. CrossRef

208. HalfordSE, RowanAJ, LiptonL, et al.Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol2003;162:1545. CrossRef

209. LiptonL, HalfordSE, JohnsonV, et al.Carcinogenesis in MYH‐associated polyposis follows a distinct genetic pathway. Cancer Res2003;63:7595.

210. BurtRW, BarthelJS, DunnKB, et al.NCCN clinical practice guidelines in oncology. Colorectal cancer screening. J Natl Compr Canc Netw2010;8:8.

211. NielsenM, van SteenbergenLN, JonesN, et al.Survival of MUTYH‐Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients. J Natl Cancer Inst2010;102:1724. CrossRef

212. BoparaiKS, DekkerE, Van EedenS, et al.Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH‐associated polyposis. Gastroenterology2008;135:2014. CrossRef

213. BuchananD, YoungJ. A perspective on bi‐allelic MUTYH mutations in patients with hyperplastic polyposis syndrome. Gastroenterology2009;136:2407. CrossRef

214. VogtS, JonesN, ChristianD, et al.Expanded extracolonic tumor spectrum in MUTYH‐associated polyposis. Gastroenterology2009;137:1976. CrossRef

215. SouthCD, HampelH, ComerasI, et al.The frequency of Muir‐Torre syndrome among Lynch syndrome families. J Natl Cancer Inst2008;100:277. CrossRef

216. BurtR, JassJR. Hyperplastic polyposis. In: HamiltonSR, AaltonenLA(eds). World Health Organization Classification of Tumours Pathology and Genetics of Tumours of the Digestive System. Lyon: IARC Press; 2000: 135.

217. SnoverDC, AhnenDJ, BurtRW, et al.Serrated polyps of the colon and rectum and serrated polyposis. In: BosmanFT, CarneiroF, HrubanRH, et al. (eds). WHO Classification of Tumours of the Digestive System. Lyon: International Agency for Research on Cancer (IARC); 2010: 160.

218. GuarinosC, Sanchez‐FortunC, Rodriguez‐SolerM, et al.Serrated polyposis syndrome: molecular, pathological and clinical aspects. World J Gastroenterol2012;18:2452. CrossRef

219. OrlowskaJ. Hyperplastic polyposis syndrome and the risk of colorectal cancer. Gut2012;61:470. CrossRef

220. BiswasS, EllisAJ, GuyR, et al.High prevalence of hyperplastic polyposis syndrome (serrated polyposis) in the NHS bowel cancer screening programme. Gut2013;62:475. CrossRef

221. MoreiraL, PelliséM, CarballalS, et al.High prevalence of serrated polyposis syndrome in FIT‐based colorectal cancer screening programmes. Gut2013;62:476. CrossRef

222. WalkerRG, LandmannJK, HewettDG, et al.Hyperplastic polyposis syndrome is associated with cigarette smoking, which may be a modifiable risk factor. Am J Gastroenterol2010;105:1642. CrossRef

223. KaladyMF, JarrarA, LeachB, et al.Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. Dis Colon Rectum2011;54:164. CrossRef

224. WinAK, WaltersRJ, BuchananDD, et al.Cancer risks for relatives of patients with serrated polyposis. Am J Gastroenterol2012;107:770. CrossRef

225. LanspaSJ, AhnenDJ, LynchHT. Editorial: serrated polyposis: the last (or only the latest?) frontier of familial polyposis?Am J Gastroenterol2012;107:779. CrossRef

226. RostyC, ParryS, YoungJP. Serrated polyposis: an enigmatic model of colorectal cancer predisposition. Pathol Res Int2011;2011:157073. CrossRef

227. BoparaiKS, Mathus‐VliegenEM, KoornstraJJ, et al.Increased colorectal cancer risk during follow‐up in patients with hyperplastic polyposis syndrome: a multicentre cohort study. Gut2010;59:1094. CrossRef

228. RostyC, BuchananDD, WalshMD, et al.Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics. Am J Surg Pathol2012;36:876. CrossRef

229. BuchananDD, SweetK, DriniM, et al.Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study. Int J Colorectal Dis2010;25:703. CrossRef

230. RostyC, WalshMD, WaltersRJ, et al.Multiplicity and molecular heterogeneity of colorectal carcinomas in individuals with serrated polyposis. Am J Surg Pathol2013;37:434. CrossRef

231. EdelsteinDL, AxilbundJE, HylindLM, et al.Serrated polyposis: rapid and relentless development of colorectal neoplasia. Gut2013;62:404. CrossRef

232. BoparaiKS, ReitsmaJB, LemmensV, et al.Increased colorectal cancer risk in first‐degree relatives of patients with hyperplastic polyposis syndrome. Gut2010;59:1222. CrossRef

233. HazewinkelY, ReitsmaJB, NagengastFM, et al.Extracolonic cancer risk in patients with serrated polyposis syndrome and their first‐degree relatives. Fam Cancer2013;12:669. CrossRef

234. OquinenaS, GuerraA, PueyoA, et al.Serrated polyposis: prospective study of first‐degree relatives. Eur J Gastroenterol Hepatol2013;25:28. CrossRef

235. National Comprehensive Cancer Network. Colorectal Cancer Screening, NCCN Guidelines Version 1.; 2013; Available at: http://www.nccn.org/professionals/physician_gls/pdf/colorectal_screening.pdf. Accessed May 2014.

236. JeghersH, McKusickVA, KatzKH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. A syndrome of diagnostic significance. N Engl J Med1949;241:993. CrossRef

237. BeggsAD, LatchfordAR, VasenHF, et al.Peutz‐Jeghers syndrome: a systematic review and recommendations for management. Gut2010;59:975. CrossRef

238. SchreibmanIR, BakerM, AmosC, et al.The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol2005;100:476. CrossRef

239. JaspersonK, KohlmannW, BurtR. Inherited risk for colorectal cancer: practical approaches for identification, referral and management. Pract Gastroenterol2007;31:37.

240. GiardielloFM, TrimbathJD. Peutz‐Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol2006;4:408. CrossRef

241. HearleN, SchumacherV, MenkoFH, et al.Frequency and spectrum of cancers in the Peutz‐Jeghers syndrome. Clin Cancer Res2006;12:3209. CrossRef

242. McGarrityTJ, KulinHE, ZainoRJ. Peutz‐Jeghers syndrome. Am J Gastroenterol2000;95:596. CrossRef

243. AmosCI, Keitheri‐CheteriMB, SabripourM, et al.Genotype‐phenotype correlations in Peutz‐Jeghers syndrome. J Med Genet2004;41:327. CrossRef

244. van LierMG, Mathus‐VliegenEM, WagnerA, et al.High cumulative risk of intussusception in patients with peutz‐jeghers syndrome: time to update surveillance guidelines?Am J Gastroenterol2011;106:940. CrossRef

245. CalvaD, HoweJR. Hamartomatous polyposis syndromes. Surg Clin North Am2008;88:779. CrossRef

246. GammonA, JaspersonK, KohlmannW, et al.Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol2009;23:219. CrossRef

247. MehenniH, RestaN, ParkJG, et al.Cancer risks in LKB1 germline mutation carriers. Gut2006;55:984. CrossRef

248. van LierMG, WagnerA, Mathus‐VliegenEM, et al.High cancer risk in Peutz‐Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol2010;105:1258. CrossRef

249. GiardielloFM, BrensingerJD, TersmetteAC, et al.Very high risk of cancer in familial Peutz‐Jeghers syndrome. Gastroenterology2000;119:1447. CrossRef

250. LimW, OlschwangS, KellerJJ, et al.Relative frequency and morphology of cancers in stk11 mutation carriers. Gastroenterology2004;126:1788. CrossRef

251. YouYN, WolffBG, BoardmanLA, et al.Peutz‐Jeghers syndrome: a study of long‐term surgical morbidity and causes of mortality. Fam Cancer2010;9:609. CrossRef

252. UlbrightTM, AminMB, YoungRH. 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 Pathol2007;31:827. CrossRef

253. AretzS, StienenD, UhlhaasS, et al.High proportion of large genomic STK11 deletions in Peutz‐Jeghers syndrome. Hum Mutat2005;26:513. CrossRef

254. VolikosE, RobinsonJ, AittomakiK, et al.LKB1 exonic and whole gene deletions are a common cause of Peutz‐Jeghers syndrome. J Med Genet2006;43:e18. CrossRef

255. MehenniH, RestaN, GuantiG, et al.Molecular and clinical characteristics in 46 families affected with Peutz‐Jeghers syndrome. Dig Dis Sci2007;52:1924. CrossRef

256. MarignaniPA. LKB1, the multitasking tumour suppressor kinase. J Clin Pathol2005;58:15. CrossRef

257. AmaroR, DiazG, SchneiderJ, et al.Peutz‐Jeghers syndrome managed with a complete intraoperative endoscopy and extensive polypectomy. Gastrointest Endosc2000;52:552. CrossRef

258. ParsiMA, BurkeCA. Utility of capsule endoscopy in Peutz‐Jeghers syndrome. Gastrointest Endosc Clin N Am2004;14:159. CrossRef

259. BurkeCA, SantisiJ, ChurchJ, et al.The utility of capsule endoscopy small bowel surveillance in patients with polyposis. Am J Gastroenterol2005;100:1498. CrossRef

260. OhmiyaN, TaguchiA, ShiraiK, et al.Endoscopic resection of Peutz‐Jeghers polyps throughout the small intestine at double‐balloon enteroscopy without laparotomy. Gastrointest Endosc2005;61:140. CrossRef

261. MayA, NachbarL, EllC. 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 Endosc2005;62:62. CrossRef

262. UddL, KatajistoP, RossiDJ, et al.Suppression of Peutz–Jeghers polyposis by inhibition of cyclooxygenase‐2. Gastroenterology2004;127:1030. CrossRef

263. WeiC, AmosCI, ZhangN, et al.Suppression of Peutz‐Jeghers polyposis by targeting mammalian target of rapamycin signaling. Clin Cancer Res2008;14:1167. CrossRef

264. NikitakisNG, KoumakiD. Laugier‐Hunziker syndrome: case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol2013;116:e52. CrossRef

265. RangwalaS, DohertyCB, KattaR. Laugier‐Hunziker syndrome: a case report and review of the literature. Dermatol Online J2010;16:9.

266. ZacharinM, BajpaiA, ChowCW, et al.Gastrointestinal polyps in McCune Albright syndrome. J Med Genet2011;48:458. CrossRef

267. LatchfordAR, NealeK, PhillipsRK, et al.Juvenile polyposis syndrome: a study of genotype, phenotype, and long‐term outcome. Dis Colon Rectum2012;55:1038. CrossRef

268. ChowE, MacraeF. A review of juvenile polyposis syndrome. J Gastroenterol Hepatol2005;20:1634. CrossRef

269. BoardmanLA. Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterol Clin North Am2002;31:1107. CrossRef

270. DelnatteC, SanlavilleD, MougenotJF, et al.Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor‐suppressor genes. Am J Hum Genet2006;78:1066. CrossRef

271. GallioneCJ, RepettoGM, LegiusE, et al.A combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet2004;363:852. CrossRef

272. O'MalleyM, LaguardiaL, KaladyMF, et al.The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. Dis Colon Rectum2012;55:886. CrossRef

273. GallioneC, AylsworthAS, BeisJ, et al.Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP‐HHT syndrome. Am J Med Genet A2010;152A:333. CrossRef

274. AretzS, StienenD, UhlhaasS, et al.High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet2007;44:702. CrossRef

275. BrosensLA, van HattemA, HylindLM, et al.Risk of colorectal cancer in juvenile polyposis. Gut2007;56:965. CrossRef

276. AaltonenLA, JassJR, HoweJR. Juvenile polyposis. In: HamiltonSR, AaltonenLA(eds). World Health Organization Classification of Tumours Pathology and Genetics of Tumours of the Digestive System. Lyon: IARC Press; 2000: 130.

277. WirtzfeldDA, PetrelliNJ, Rodriguez‐BigasMA. Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol2001;8:319. CrossRef

278. Calva‐CerqueiraD, DahdalehFS, WoodfieldG, et al.Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis. Hum Mol Genet2010;19:4654. CrossRef

279. van HattemWA, BrosensLA, de LengWW, et al.Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut2008;57:623. CrossRef

280. HeXC, ZhangJ, TongWG, et al.BMP signaling inhibits intestinal stem cell self‐renewal through suppression of Wnt‐beta‐catenin signaling. Nat Genet2004;36:1117. CrossRef

281. HardwickJC, Van Den BrinkGR, BleumingSA, et al.Bone morphogenetic protein 2 is expressed by, and acts upon, mature epithelial cells in the colon. Gastroenterology2004;126:111. CrossRef

282. OncelM, ChurchJM, RemziFH, et al.Colonic surgery in patients with juvenile polyposis syndrome: a case series. Dis Colon Rectum2005;48:49. CrossRef

283. LachlanKL, LucassenAM, BunyanD, et al.Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age‐related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet2007;44:579. CrossRef

284. PilarskiR. Cowden syndrome: a critical review of the clinical literature. J Genet Couns2008;18:13. CrossRef

285. EngC, EngC, BurtRW. Cowden syndrome. In: BosmanFT, CarneiroF, HrubanRH, et al. (eds). WHO Classification of Tumours of the Digestive System. Lyon: International Agency for Research on Cancer (IARC); 2010: 171.

286. PilarskiR, StephensJA, NossR, et al.Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan‐Riley‐Ruvalcaba syndrome clinical features. J Med Genet2011;48:505. CrossRef

287. TanMH, MesterJL, NgeowJ, et al.Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res2012;18:400. CrossRef

288. EngC. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet2000;37:828. CrossRef

289. National Comprehensive Cancer Network. Genetic/familial high‐risk assessment: breast and ovarian, NCCN Guidelines Version 2.2013. National Comprehensive Cancer Network; 2013; Available at: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed May 2014.

290. PilarskiR, EngC. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet2004;41:323. CrossRef

291. HealdB, MesterJ, RybickiL, et al.Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology2010;139:1927. CrossRef

292. StanichPP, OwensVL, SweetserS, et al.Colonic polyposis and neoplasia in Cowden syndrome. Mayo Clin Proc2011;86:489. CrossRef

293. TrufantJW, GreeneL, CookDL, et al.Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review. Hum Pathol2012;43:601. CrossRef

294. LeviZ, BarisHN, KedarI, et al.Upper and lower gastrointestinal findings in PTEN mutation‐positive cowden syndrome patients participating in an active surveillance program. Clin Transl Gastroenterol2011;2:e5. CrossRef

295. PilarskiR. Cowden syndrome: a critical review of the clinical literature. J Genet Couns2009;18:13. CrossRef

296. Riegert‐JohnsonDL, GleesonFC, RobertsM, et al.Cancer and Lhermitte‐Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract2010;8:6. CrossRef

297. McGarrityTJ, Wagner BakerMJ, RuggieroFM, 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 Gastroenterol2003;98:1429. CrossRef

298. Al‐ThihliK, PalmaL, MarcusV, et al.A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis. Nat Clin Pract Gastroenterol Hepatol2009;6:184. CrossRef

299. TanMH, MesterJ, PetersonC, et al.A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet2011;88:42. CrossRef

300. RobinsonS, CohenAR. Cowden disease and Lhermitte‐Duclos disease: an update. Case report and review of the literature. Neurosurg Focus2006;20:E6. CrossRef

301. GorlinRJ, CohenMMJr, CondonLM, et al.Bannayan‐Riley‐Ruvalcaba syndrome. Am J Med Genet1992;44:307. CrossRef

302. LowichikA, WhiteFV, TimmonsCF, et al.Bannayan‐Riley‐Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. Pediatr Dev Pathol2000;3:155. CrossRef

303. AgaimyA, VassosN, CronerRS. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations. Int J Clin Exp Pathol2012;5:852.

304. WilliamsVC, LucasJ, BabcockMA, et al.Neurofibromatosis type 1 revisited. Pediatrics2009;123:124. CrossRef

305. RellesD, BaekJ, WitkiewiczA, et al.Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20‐year review of the literature yielding 76 cases. J Gastrointest Surg2010;14:1052. CrossRef

306. HochbergFH, DasilvaAB, GaldabiniJ, et al.Gastrointestinal involvement in von Recklinghausen's neurofibromatosis. Neurology1974;24:1144. CrossRef

307. ShekitkaKM, SobinLH. Ganglioneuromas of the gastrointestinal tract. Relation to Von Recklinghausen disease and other multiple tumor syndromes. Am J Surg Pathol1994;18:250. CrossRef

308. OzcinarB, AksakalN, AgcaogluO, et al.Multiple gastrointestinal stromal tumors and pheochromocytoma in a patient with von Recklinghausen's disease. Int J Surg Case Rep2013;4:216. CrossRef

309. MaertensO, PrenenH, Debiec‐RychterM, et al.Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet2006;15:1015. CrossRef

310. WimmerK, EtzlerJ. Constitutional mismatch repair‐deficiency syndrome: have we so far seen only the tip of an iceberg?Hum Genet2008;124:105. CrossRef

311. HerkertJC, NiessenRC, Olderode‐BerendsMJ, et al.Paediatric intestinal cancer and polyposis due to bi‐allelic PMS2 mutations: case series, review and follow‐up guidelines. Eur J Cancer2011;47:965. CrossRef

312. MartuccielloG, LeroneM, BriccoL, et al.Multiple endocrine neoplasias type 2B and RET proto‐oncogene. Ital J Pediatr2012;38:9. CrossRef

313. MarshDJ, MulliganLM, EngC. RET proto‐oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. Horm Res1997;47:168. CrossRef

314. CarterJE, LauriniJA. Isolated intestinal neurofibromatous proliferations in the absence of associated systemic syndromes. World J Gastroenterol2008;14:6569. CrossRef

315. NgKH, MathurP, KumarasingheMP, et al.Cap polyposis: further experience and review. Dis Colon Rectum2004;47:1208. CrossRef

316. IsomotoH, UrataM, NakagoeT, et al.Proximal extension of cap polyposis confirmed by colonoscopy. Gastrointest Endosc2001;54:388. CrossRef

317. BrosensLA, MontgomeryEA, BhagavanBS, et al.Mucosal prolapse syndrome presenting as rectal polyposis. J Clin Pathol2009;62:1034. CrossRef

318. EsakiM, MatsumotoT, KobayashiH, et al.Cap polyposis of the colon and rectum: an analysis of endoscopic findings. Endoscopy2001;33:262. CrossRef

319. GallegosM, LauC, BradlyDP, et al.Cap polyposis with protein‐losing enteropathy. Gastroenterol Hepatol (N Y)2011;7:415.

320. DehghaniSM, MalekpourA, HaghighatM. Solitary rectal ulcer syndrome in children: a literature review. World J Gastroenterol2012;18:6541. CrossRef

321. AbidS, KhawajaA, BhimaniSA, et al.The clinical, endoscopic and histological spectrum of the solitary rectal ulcer syndrome: a single‐center experience of 116 cases. BMC Gastroenterol2012;12:72. CrossRef

322. BastleinC, BurlefingerR, HolzbergE, et al.Common variable immunodeficiency syndrome and nodular lymphoid hyperplasia in the small intestine. Endoscopy1988;20:272. CrossRef

323. SharmaM, GoyalA, EckaRS. An unusual cause of recurrent diarrhea with small intestinal "polyposis". Nodular lymphoid hyperplasia of the small intestine. Gastroenterology2012;142:e8. CrossRef

324. MolaeiM, KaboliA, FathiAM, et al.Nodular lymphoid hyperplasia in common variable immunodeficiency syndrome mimicking familial adenomatous polyposis on endoscopy. Indian J Pathol Microbiol2009;52:530. CrossRef

325. JooM, ShimSH, ChangSH, et al.Nodular lymphoid hyperplasia and histologic changes mimicking celiac disease, collagenous sprue, and lymphocytic colitis in a patient with selective IgA deficiency. Pathol Res Pract2009;205:876. CrossRef

326. GargV, LipkaS, RizvonK, et al.Diffuse nodular lymphoid hyperplasia of intestine in selective IgG 2 subclass deficiency, autoimmune thyroiditis, and autoimmune hemolytic anemia: case report and literature review. J Gastrointestin Liver Dis2012;21:431.

327. CastellanoG, MorenoD, GalvaoO, et al.Malignant lymphoma of jejunum with common variable hypogammaglobulinemia and diffuse nodular hyperplasia of the small intestine. A case study and literature review. J Clin Gastroenterol1992;15:128. CrossRef

328. AtwellJD, BurgeD, WrightD. Nodular lymphoid hyperplasia of the intestinal tract in infancy and childhood. J Pediatr Surg1985;20:25. CrossRef

329. MansuetoP, IaconoG, SeiditaA, et al.Review article: intestinal lymphoid nodular hyperplasia in children – the relationship to food hypersensitivity. Aliment Pharmacol Ther2012;35:1000.

330. Lai Ping SoA, MayerL. Gastrointestinal manifestations of primary immunodeficiency disorders. Semin Gastrointest Dis1997;8:22.

331. SchwartzDC, ColeCE, SunY, et al.Diffuse nodular lymphoid hyperplasia of the colon: polyposis syndrome or normal variant?Gastrointest Endosc2003;58:630.

332. BharadhwajG, TriadafilopoulosG. Endoscopic appearances of colonic lymphoid nodules: new faces of an old histopathological entity. Am J Gastroenterol1995;90:946.

333. NagasakoK, TakemotoT. Endoscopy of the ileocecal area. Gastroenterology1973;65:403.

334. NagaokaS, BandohT, TakemuraT. Lymphoid hyperplasia of the large intestine: a case report with immunohistochemical and gene analysis. Pathol Int2000;50:750. CrossRef

335. FossHD, SteinH. Pathology of intestinal lymphomas. Recent Results Cancer Res2000;156:33. CrossRef

336. Ruskone‐FourmestrauxA. Gastrointestinal lymphomas: the French experience of the Groupe D'etude des Lymphomes Digestifs (GELD). Recent Results Cancer Res2000;156:99. CrossRef

337. KellaVK, ConstantineR, ParikhNS, et al.Mantle cell lymphoma of the gastrointestinal tract presenting with multiple intussusceptions–case report and review of literature. World J Surg Oncol2009;7:60. CrossRef

338. TamuraS, OhkawauchiK, YokoyamaY, et al.Non‐multiple lymphomatous polyposis form of mantle cell lymphoma in the gastrointestinal tract. J Gastroenterol2004;39:995. CrossRef

339. OkazakiK. Multiple lymphomatous polyposis form is common but not specific for mantle cell lymphoma in the gastrointestinal tract. J Gastroenterol2004;39:1023. CrossRef

340. Ruskone‐FourmestrauxA, DelmerA, LavergneA, et al.Multiple lymphomatous polyposis of the gastrointestinal tract: prospective clinicopathologic study of 31 cases. Groupe D'etude des Lymphomes Digestifs. Gastroenterology1997;112:7. CrossRef

341. RodriguesS, CardosoH, MacedoG. Mantle cell lymphoma presenting as multiple lymphomatous polyposis of the small bowel. Clin Gastroenterol Hepatol2013;11:e71. CrossRef

342. PalsST, DrillenburgP, DragosicsB, et al.Expression of the mucosal homing receptor alpha 4 beta 7 in malignant lymphomatous polyposis of the intestine. Gastroenterology1994;107:1519. CrossRef

343. EndohM, HiraishiH, TeranoA. Gastrointestinal: multiple lymphomatous polyposis. J Gastroenterol Hepatol1999;14:937. CrossRef

344. ShenKH, ChenCJ, YenHH. Multiple polyposis of the esophagus: mantle cell lymphoma. Clin Gastroenterol Hepatol2012;10:e65. CrossRef

345. MynsterT, HultbergB, BulowS. Multiple lymphomatous polyposis of the colon and rectum. Scand J Gastroenterol1994;29:545. CrossRef

346. XuXJ, WuSM. Multiple lymphomatous polyposis of the gastrointestinal tract: report of three cases and literature review. J Dig Dis2012;13:649. CrossRef

347. YanaiS, NakamuraS, TakeshitaM, et al.Translocation t(14;18)/IGH‐BCL2 in gastrointestinal follicular lymphoma: correlation with clinicopathologic features in 48 patients. Cancer2011;117:2467. CrossRef

348. Al‐SaleemT, Al‐MondhiryH. Immunoproliferative small intestinal disease (IPSID): a model for mature B‐cell neoplasms. Blood2005;105:2274. CrossRef

349. LecuitM, AbachinE, MartinA, et al.Immunoproliferative small intestinal disease associated with Campylobacter jejuni. N Engl J Med2004;350:239. CrossRef

350. MesnardB, De VroeyB, MaunouryV, et al.Immunoproliferative small intestinal disease associated with Campylobacter jejuni. Dig Liver Dis2012;44:799. CrossRef

351. ErsoyO, AkinE, DemirezerA, et al.Capsule‐endoscopic findings in immunoproliferative small‐intestinal disease. Endoscopy2012;44:UCTN:E61. CrossRef

352. DuttaU, UdawatH, NoorMT, et al.Regression of immunoproliferative small intestinal disease after eradication of Helicobacter pylori. J Gastrointest Cancer2010;41:212. CrossRef

353. DurnoCA, HolterS, ShermanPM, et al.The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol2010;105:2449. CrossRef

354. JaspersonKW. Genetic testing by cancer site: colon (polyposis syndromes). Cancer J2012;18:328. CrossRef

355. DurnoCA, AronsonM, TaboriU, et al.Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow‐up of a kindred. Pediatr Blood Cancer2012;59:652. CrossRef

356. JaegerEE, Woodford‐RichensKL, LockettM, et al.An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13‐q14 is associated with hereditary mixed polyposis syndrome. Am J Hum Genet2003;72:1261. CrossRef

357. RozenP, SamuelZ, BrazowskiE. A prospective study of the clinical, genetic, screening, and pathologic features of a family with hereditary mixed polyposis syndrome. Am J Gastroenterol2003;98:2317. CrossRef

358. JaegerE, WebbE, HowarthK, et al.Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet2008;40:26. CrossRef

359. JaegerE, LeedhamS, LewisA, et al.Hereditary mixed polyposis syndrome is caused by a 40‐kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet2012;44:699. CrossRef

360. SweetserS, AhlquistDA, OsbornNK, et al.Clinicopathologic features and treatment outcomes in Cronkhite‐Canada syndrome: support for autoimmunity. Dig Dis Sci2012;57:496. CrossRef

361. SeshadriD, KaragiorgosN, HyserMJ. A case of cronkhite‐Canada syndrome and a review of gastrointestinal polyposis syndromes. Gastroenterol Hepatol (N Y)2012;8:197.

362. SweetserS, BoardmanLA. Cronkhite‐Canada syndrome: an acquired condition of gastrointestinal polyposis and dermatologic abnormalities. Gastroenterol Hepatol (N Y)2012;8:201.

363. SamohaS, ArberN. Cronkhite‐Canada syndrome. Digestion2005;71:199. CrossRef

364. BlonskiWC, FurthEE, KinosianBP, et al.A case of Cronkhite‐Canada syndrome with taste disturbance as a leading complaint. Digestion2005;71:201. CrossRef

365. FreniSC, KeemanJN. Leiomyomatosis of the colon. Cancer1977;39:263. CrossRef

366. SpaunE, NielsenL. Leiomyomatosis of the colon and mesentery: report of a case. Am J Gastroenterol1986;81:385.

367. VallaeysJH, CuvelierCA, BekaertL, et al.Combined leiomyomatosis of the small intestine and colon. Arch Pathol Lab Med1992;116:281.

368. CrouchG, DevittPG, ThompsonSK. Diffuse esophageal leiomyomatosis. Dis Esophagus2011;24:145. CrossRef

369. SellHWJr, CoccoA. Diffuse leiomyomatosis of the gastrointestinal tract in a single patient–esophagus to rectum: case report. Surgery1997;122:637. CrossRef

370. Santos‐BrizA, GarciaJP, GonzalezC, et al.Lipomatous polyposis of the colon. Histopathology2001;38:81. CrossRef

371. Zarrin‐KhamehN, HaasEM, RoJ, et al.Lipomatosis coli, a mimicker of familial polyposis. Ann Diagn Pathol2013;17:210. CrossRef

372. BroulandJP, PoupardB, NemethJ, et al.Lipomatous polyposis of the colon with multiple lipomas of peritoneal folds and giant diverticulosis: report of a case. Dis Colon Rectum2000;43:1767. CrossRef

373. TatsuguchiA, FukudaY, MoriyamaT, et al.Lipomatosis of the small intestine and colon associated with intussusception in the ileocecal region. Gastrointest Endosc1999;49:118. CrossRef

374. WatanabeT, KatoK, SugitaniM, et al.A case of multiple lymphangiomas of the colon suggesting colonic lymphangiomatosis. Gastrointest Endosc2000;52:781. CrossRef

375. JungSW, ChaJM, LeeJI, et al.A case report with lymphangiomatosis of the colon. J Korean Med Sci2010;25:155. CrossRef

376. AttarA, PocardM, MessingB. Pneumatosis cystoides intestinalis in primary intestinal pseudo‐obstruction: a nonsurgical cause of pneumoperitoneum. Clin Gastroenterol Hepatol2005;3:A21. CrossRef

377. KhalilPN, Huber‐WagnerS, LadurnerR, et al.Natural history, clinical pattern, and surgical considerations of pneumatosis intestinalis. Eur J Med Res2009;14:231. CrossRef