Mutations Predisposing to Hereditary Nonpolyposis Colorectal Cancer
作者： Päivi Peltomäki , Albert de la Chapelle
DOI: 10.1016/S0065-230X(08)60097-4
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摘要: Publisher Summary This chapter describes recent advances in the study of DNA mismatch repair (MMR) genes, with emphasis on mutations predisposing to hereditary nonpolyposis colorectal cancer (HNPCC), their phenotypic effects, and scientific clinical implications these findings. The main forms (CRC) are familial adenomatous polyposis (FAP) HNPCC. diagnosis HNPCC was mainly based family history. kindreds commonly defined as those which at least three relatives two generations have CRC, one being a first-degree relative other and, furthermore, diagnosed less than 50 years age. A definitive is gene analyses. normal function proteins encoded by genes participate (MMR). syndrome sometimes divided into Lynch syndromes I II absence or presence, respectively, extracolonic cancer. CRC develop via precancerous growth, adenoma. systematic search through entire genome using highly informative short tandem repeat (microsatellite) markers resulted identification first susceptibility locus chromosome 2p linkage analysis.
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sci-hub.se 参考文章(117)
Peter Beighton, Greta Beighton, de la Chapelle, A. The Person Behind the Syndrome. pp. 209- 209 ,(1997) , 10.1007/978-1-4471-0925-9_118
Stephen J. Lanspa, Henry T. Lynch, Thomas C. Smyrk, Patricia Strayhorn, Patrice Watson, Jane F. Lynch, Joseph X. Jenkins, Henry D. Appelman, Colorectal adenomas in the Lynch syndromes. Results of a colonoscopy screening program. Gastroenterology. ,vol. 98, pp. 1117- 1122 ,(1990) , 10.1016/0016-5085(90)90323-S
Kolodner R, Kane M, Scott Rj, Weber W, Spycher M, Müller H, Mary Jl, Bishop T, Torhorst J, Lipford, Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. Human Molecular Genetics. ,vol. 3, pp. 2067- 2069 ,(1994)
L Bertario, H Vasen, R Kolodner, J Wijnen, F Nagengast, R Fodde, J Mohr, Jan Kleibeuker, PM Khan, L Varesco, A Cats, vanLeeuwenCornelisse, M vandenBroek, H vanderKlift, G Griffioen, ML Bisgaard, D Lindhout, EJ MeijersHeijboer, F Menko, Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16 American Journal of Human Genetics. ,vol. 58, pp. 300- 307 ,(1996)
Henry T. Lynch, Thomas C. Smyrk, Patrice Watson, Stephen J. Lanspa, Jane F. Lynch, Patrick M. Lynch, R.Jennifer Cavalieri, C.Richard Boland, Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review Gastroenterology. ,vol. 104, pp. 1535- 1549 ,(1993) , 10.1016/0016-5085(93)90368-M
H Fujii, T Shimada, Isolation and characterization of cDNA clones derived from the divergently transcribed gene in the region upstream from the human dihydrofolate reductase gene Journal of Biological Chemistry. ,vol. 264, pp. 10057- 10064 ,(1989) , 10.1016/S0021-9258(18)81766-5
Hoguen Kim, Jin Jen, Bert Vogelstein, Stanley R Hamilton, None, Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences American Journal of Pathology. ,vol. 145, pp. 148- 156 ,(1994)
Kenneth W. Kinzler, Lois L. Myeroff, James K. V. Willson, Sanford D. Markowitz, Ramon Parsons, Bo Liu, Bert Vogelstein, Microsatellite instability and mutations of the transforming growth factor β type II receptor gene in colorectal cancer Cancer Research. ,vol. 55, pp. 5548- 5550 ,(1995)
Nicholas C. Nicolaides, Kenneth C. Carter, Brenda K. Shell, Nickolas Papadopoulos, Bert Vogelstein, Kenneth W. Kinzler, Genomic organization of the human PMS2 gene family. Genomics. ,vol. 30, pp. 195- 206 ,(1995) , 10.1006/GENO.1995.9885
NICHOLAS C. NICOLAIDES, KENNETH W. KINZLER, BERT VOGELSTEIN, Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene. Genomics. ,vol. 29, pp. 329- 334 ,(1995) , 10.1006/GENO.1995.9997