The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

作者: Hanan Lamlum , Mohammad Ilyas , Andrew Rowan , Susan Clark , Victoria Johnson

DOI: 10.1038/12511

关键词:

摘要: APC is often cited as a prime example of a tumor suppressor gene. Truncating germline and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP (familial …

参考文章(24)
M R Stratton, S R Lakhani, P J Biggs, J Burn, P Chapman, The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas. Oncogene. ,vol. 12, pp. 1375- 1377 ,(1996)
Ian Tomlinson, Walter Bodmer, Selection, the mutation rate and cancer: Ensuring that the tail does not wag the dog Nature Medicine. ,vol. 5, pp. 11- 12 ,(1999) , 10.1038/4687
Lisa N. Spirio, Wade Samowitz, Jennifer Robertson, Margaret Robertson, Randall W. Burt, Mark Leppert, Ray White., Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps. Nature Genetics. ,vol. 20, pp. 385- 388 ,(1998) , 10.1038/3865
Michiko Miyaki, Takeo Iwama, Rei Kikuchi-Yanoshita, Masayuki Enomoto, Motoko Konishi, Takeo Mori, Fumio Konishi, Hiromi Takahashi, Masatoshi Muraoka, Kiyoko Tanaka, Coexistence of Somatic and Germ-Line Mutations of APC Gene in Desmoid Tumors from Patients with Familial Adenomatous Polyposis Cancer Research. ,vol. 53, pp. 5079- 5082 ,(1993)
W. Friedl, S. Meuschel, C. Lamberti, M. Sengteller, P. Propping, R. Caspari, S. Krieger, Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein Human Genetics. ,vol. 97, pp. 579- 584 ,(1996) , 10.1007/BF02281864
Rob van der Luijt, P.Meera Khan, Hans Vasen, Claus van Leeuwen, Carli Tops, Pauline Roest, Johan den Dunnen, Riccardo Fodde, Rapid Detection of Translation-Terminating Mutations at the Adenomatous Polyposis Coli (APC) Gene by Direct Protein Truncation Test Genomics. ,vol. 20, pp. 1- 4 ,(1994) , 10.1006/GENO.1994.1119
Michiko Miyaki, Kiyoko Tanaka, Rei Kikuchi-Yanoshita, Masatoshi Muraoka, Motoko Konishi, Familial polyposis: recent advances☆ Critical Reviews in Oncology Hematology. ,vol. 19, pp. 1- 31 ,(1995) , 10.1016/1040-8428(94)00129-H
Akseli Hemminki, Ian Tomlinson, David Markie, Heikki Järvinen, Pertti Sistonen, Anna-Maria Björkqvist, Sakari Knuutila, Reijo Salovaara, Walter Bodmer, Darryl Shibata, Albert de la Chapelle, Lauri A. Aaltonen, Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis Nature Genetics. ,vol. 15, pp. 87- 90 ,(1997) , 10.1038/NG0197-87
Amy R. Moser, Cindy Luongo, William F. Dove, Sarah Gledhill, Loss of Apc+ in Intestinal Adenomas from Min Mice Cancer Research. ,vol. 54, pp. 5947- 5952 ,(1994)
Steven M. Powell, Nathan Zilz, Yasmin Beazer-Barclay, Tracy M. Bryan, Stanley R. Hamilton, Stephen N. Thibodeau, Bert Vogelstein, Kenneth W. Kinzler, APC mutations occur early during colorectal tumorigenesis. Nature. ,vol. 359, pp. 235- 237 ,(1992) , 10.1038/359235A0