Clinical Characteristics of Multiple Colorectal Adenoma Patients Without Germline APC or MYH Mutations

Journal of Clinical Gastroenterology

Volumn 50, Issue 7, 2016, Pages 584-588

  Tieu, Alan H ^a   Edelstein, Daniel ^a   Axilbund, Jennifer ^b   Romans, Katharine E ^b   Brosens, Lodewijk A ^c,d   Wiley, Elizabeth ^b   Hylind, Linda ^a   Giardiello, Francis M ^a,b,c  

^a JOHNS HOPKINS HOSPITAL   (United States)

^b Department of Oncology Center ^*  (United States)

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

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

clinical history; colorectal cancer; multiple colorectal adenomas

Indexed keywords

ADULT; AGED; APC GENE; ARTICLE; CANCER SURGERY; CLINICAL ARTICLE; COLONOSCOPY; COLORECTAL ADENOMA; COLORECTAL POLYP; ESOPHAGOGASTRODUODENOSCOPY; FEMALE; FOLLOW UP; GENE; GERMLINE MUTATION; HUMAN; MALE; MULTIPLE COLORECTAL ADENOMA; MYH GENE; PRIORITY JOURNAL; ADENOMA; COLON RESECTION; COLORECTAL TUMOR; DIGESTIVE TRACT ENDOSCOPY; GENETICS; MIDDLE AGED; PATHOLOGY; PHENOTYPE; PROCEDURES; RETROSPECTIVE STUDY; TUMOR RECURRENCE; YOUNG ADULT;

APC PROTEIN; APC PROTEIN, HUMAN; DNA GLYCOSYLASE MUTY; DNA GLYCOSYLTRANSFERASE;

ADENOMA; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADULT; AGED; COLECTOMY; COLONOSCOPY; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; ENDOSCOPY, DIGESTIVE SYSTEM; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; MIDDLE AGED; NEOPLASM RECURRENCE, LOCAL; PHENOTYPE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84944810514     PISSN: 01920790     EISSN: 15392031     Source Type: Journal    
DOI: 10.1097/MCG.0000000000000416     Document Type: Article

References (13)

1. Jemal A, Siegel R, Xu J, et al. Cancer statistics, 2010. CA Cancer J Clin. 2010;60:277-300.
2. American Society of Clinical O. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol. 2003;21:2397-2406.
3. Lipton L, Tomlinson I. The genetics of FAP and FAP-like syndromes. Fam Cancer. 2006;5:221-226.
4. Leppert M, Dobbs M, Scambler P, et al. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science. 1987;238:1411-1413.
5. Lagarde A, Rouleau E, Ferrari A, et al. Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. J Med Genet. 2010;47:721-722.
6. 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;30:227-232.
7. Grover S, Kastrinos F, Steyerberg EW, et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA. 2012;308:485-492.
8. Thirlwell C, Howarth KM, Segditsas S, et al. Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations. Br J Cancer. 2007;96:1729-1734.
9. Filipe B, Baltazar C, Albuquerque C, et al. APC or MUTYH mutations account for the majority of clinically wellcharacterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. Clin Genet. 2009;76: 242-255.
10. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006;101:385-398.
11. Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137:1976.e1-10-1985.e1-10.
12. Jasperson KW, Tuohy TM, Neklason DW, et al. Hereditary and familial colon cancer. Gastroenterology. 2010;138:2044-2058.
13. Palles C, Cazier JB, Howarth KM, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013;45:136-144.