Extra-Colonic Manifestations of Familial Adenomatous Polyposis Coli

作者: Alison H. Trainer

DOI: 10.1007/978-1-4419-1145-2_10

关键词: Signs and symptomsColorectal cancerInternal medicineClinical manifestationColorectal surgeryFamilial adenomatous polyposisGastroenterologyFamilial Adenomatous Polyposis ColiAdenomatous polyposis coliPenetrant (biochemical)Medicine

摘要: The most important clinical manifestation of Familial Adenomatous Polyposis (FAP) is a profuse polyposis predisposing to colorectal cancer. This picture emphasises the fundamental cellular role APC in tumorigenesis. As prophylactic surgery has significantly reduced mortality associated with this disorder, other less penetrant signs and symptoms condition are becoming more clinically relevant. Highlighting these problems will help improve quality life for patients FAP may have additional benefit shedding new light on possible functions protein.

参考文章(73)
Claudio Soravia, Sonia L Sugg, Terri Berk, Angela Mitri, Hong Cheng, Steven Gallinger, Zane Cohen, Sylvia L Asa, Bharati V Bapat, None, Familial adenomatous polyposis-associated thyroid cancer: a clinical, pathological, and molecular genetics study American Journal of Pathology. ,vol. 154, pp. 127- 135 ,(1999) , 10.1016/S0002-9440(10)65259-5
Alm T, Ericson S, Schiöler R, Koch G, Ullbro C, Occult radiopaque jaw lesions in familial adenomatous polyposis. Swedish Dental Journal. ,vol. 14, pp. 201- ,(1990)
Eldon J. Gardner, Ralph C. Richards, Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. American Journal of Human Genetics. ,vol. 5, pp. 139- 147 ,(1953)
C. Breukel, D. Bunyan, J. Primrose, D. M. Eccles, J. Burn, R. Fodde, J. Barber, R. van der Luijt, A. Fisher, C. du Boulay, H. Bullman, Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. American Journal of Human Genetics. ,vol. 59, pp. 1193- 1201 ,(1996)
T. W. Warnes, K. Horner, D. G R Evans, J. G. Armstrong, N. Thakker, P. Sloan, R. Harris, S. P. Guy, T. Clancy, C. Dodd, V. Blair, D. R. Davies, Severe Gardner Syndrome in Families with Mutations Restricted to a Specific Region of the APC Gene American Journal of Human Genetics. ,vol. 57, pp. 1151- 1158 ,(1995)
Brindusa Truta, Brian A. Allen, Peggy G. Conrad, Young S. Kim, Terri Berk, Steven Gallinger, Bharati Bapat, Jonathan P. Terdiman, Marvin H. Sleisenger, Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Familial Cancer. ,vol. 2, pp. 95- 99 ,(2003) , 10.1023/A:1025762706854
F Ficari, A Cama, R Valanzano, M C Curia, R Palmirotta, G Aceto, D L Esposito, S Crognale, A Lombardi, L Messerini, R Mariani-Costantini, F Tonelli, P Battista, APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis British Journal of Cancer. ,vol. 82, pp. 348- 353 ,(2000) , 10.1054/BJOC.1999.0925
Jean Couture, Angela Mitri, Real Lagace, Ron Smits, Terri Berk, Henri-Louis Bouchard, Riccardo Fodde, Benjamin Alman, Bharati Bapat, A germline mutation at the extreme 3′ end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta‐catenin in the desmoid tumor Clinical Genetics. ,vol. 57, pp. 205- 212 ,(2000) , 10.1034/J.1399-0004.2000.570306.X
Yoko Nakatsuru, Hideaki Oda, Yasuo Imai, Jun-ichi Hata, Takatoshi Ishikawa, Somatic Mutations of the APC Gene in Sporadic Hepatoblastomas Cancer Research. ,vol. 56, pp. 3320- 3323 ,(1996)
S Diaz-Cano, M E Pajerski, B A Alman, H J Wolfe, C Li, Increased beta-catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors) American Journal of Pathology. ,vol. 151, pp. 329- 334 ,(1997)