| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
Department of Biochemistry, Cancer Institute, 1-37-1, Kami-Ikebukuro, Toshima-ku, Tokyo 170, Japan [H. N., Y. M., A. H., T. A., Y. N.]; Second Department of Surgery, Kumamoto University Medical School, 1-1-1 Honjo, Kumamoto 862, Japan [H. N., M. O.]; Second Department of Surgery, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663, Japan [J. U.]; Second Department of Surgery, Hamamatsu University School of Medicine, 3600 Handa-cho, Hamamatsu, Shizuoka, 431-31, Japan [S. B.]; Department of Genetics, Medical Institute of Bioregulation, Kyusyu University, 3-1-1 Maedashi, Higashi-ku, Fukuoka 812, Japan [T. S.]
Recently we have isolated the adenomatous polyposis coli (APC) gene which causes familial adenomatous polyposis (FAP), and its germ-line mutations in a substantial number of FAP patients have been identified. On the basis of this information, we compared the location of germ-line mutations in the APC gene in 22 unrelated patients (12 of whom have been reported previously) with the number of colorectal polyps developed in FAP patients; 17 were sparse types and five were profuse types. All but one of the mutations were considered to cause truncation of the gene product by frame-shift due to deletion (14 cases) or nonsense mutation (seven cases). The location of the germ-line mutations seems to correlate with the two clinical types; germ-line mutations in five FAP patients with profuse polyps were observed between codon 1250 and codon 1464, whereas mutations in 17 FAP patients with fewer polyps were observed in the other regions of the APC gene. The result suggests that the number of colorectal polyps in FAP patients may be associated with a difference in the stability or biological function of the truncated APC protein.
1 This work was supported in part by a Grant-in-Aid from the Ministry of Education, Culture, and Science of Japan.
2 To whom requests for reprints should be addressed.
Received 4/20/92. Accepted 5/22/92.
This article has been cited by other articles:
|
|
 |
|
  M E Baser, L Kuramoto, R Woods, H Joe, J M Friedman, A J Wallace, R T Ramsden, S Olschwang, E Bijlsma, M Kalamarides, et al. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 J. Med. Genet., July 1, 2005; 42(7): 540 - 546. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S Aretz, D Stienen, S Uhlhaas, C Pagenstecher, E Mangold, R Caspari, P Propping, and W Friedl Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis J. Med. Genet., February 1, 2005; 42(2): 185 - 192. [Full Text] [PDF]
|
|
|
|
 |
|
 N J H Sturt, M C Gallagher, P Bassett, C R Philp, K F Neale, I P M Tomlinson, A R J Silver, and R K S Phillips Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation Gut, December 1, 2004; 53(12): 1832 - 1836. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. Bertario, A. Russo, P. Sala, L. Varesco, M. Giarola, P. Mondini, M. Pierotti, P. Spinelli, and P. Radice Multiple Approach to the Exploration of Genotype-Phenotype Correlations in Familial Adenomatous Polyposis J. Clin. Oncol., May 1, 2003; 21(9): 1698 - 1707. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. S Fearnhead, J. L Wilding, and W. F Bodmer Genetics of colorectal cancer: hereditary aspects and overview of colorectal tumorigenesis Br. Med. Bull., December 1, 2002; 64(1): 27 - 43. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S Nakamura, T Matsumoto, Y Kobori, and M Iida Impact of Helicobacter pylori infection and mucosal atrophy on gastric lesions in patients with familial adenomatous polyposis Gut, October 1, 2002; 51(4): 485 - 489. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Levy Sulindac in Familial Adenomatous Polyposis N. Engl. J. Med., August 22, 2002; 347(8): 615 - 615. [Full Text] [PDF]
|
|
|
|
 |
|
 C. Albuquerque, C. Breukel, R. van der Luijt, P. Fidalgo, P. Lage, F. J.M. Slors, C. N. Leitao, R. Fodde, and R. Smits The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the {beta}-catenin signaling cascade Hum. Mol. Genet., June 15, 2002; 11(13): 1549 - 1560. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. A. Galea, A. Eleftheriou, and B. R. Henderson ARM Domain-dependent Nuclear Import of Adenomatous Polyposis Coli Protein Is Stimulated by the B56alpha Subunit of Protein Phosphatase 2A J. Biol. Chem., November 30, 2001; 276(49): 45833 - 45839. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Iwama Somatic Mutation Rate of the APC Gene Jpn. J. Clin. Oncol., May 1, 2001; 31(5): 185 - 187. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. S. Fearnhead, M. P. Britton, and W. F. Bodmer The ABC of APC Hum. Mol. Genet., April 1, 2001; 10(7): 721 - 733. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W Friedl, R Caspari, M Sengteller, S Uhlhaas, C Lamberti, M Jungck, M Kadmon, M Wolf, J Fahnenstich, J Gebert, et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families Gut, April 1, 2001; 48(4): 515 - 521. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Cetta, M. C. Curia, G. Montalto, M. Gori, A. Cama, P. Battista, and A. Barbarisi Thyroid Carcinoma Usually Occurs in Patients with Familial Adenomatous Polyposis in the Absence of Biallelic Inactivation of the Adenomatous Polyposis Coli Gene J. Clin. Endocrinol. Metab., January 1, 2001; 86(1): 427 - 432. [Abstract] [Full Text]
|
|
|
|
|
|
H. F. A. Vasen Clinical Diagnosis and Management of Hereditary Colorectal Cancer Syndromes J. Clin. Oncol., November 1, 2000; 18(90001): 81s - 92. [Full Text] [PDF]
|
|
|
|
 |
|
 P. Polakis Wnt signaling and cancer Genes & Dev., August 1, 2000; 14(15): 1837 - 1851. [Full Text]
|
|
|
|
 |
|
 H. Sasai, M. Masaki, and K. Wakitani Suppression of polypogenesis in a new mouse strain with a truncated Apc{Delta}474 by a novel COX-2 inhibitor, JTE-522 Carcinogenesis, May 1, 2000; 21(5): 953 - 958. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Ogiso, I. Ueno, M. Fujimori, Y. Fukushima, and T. Katsuyama A Novel Non-pathogenetic Polymorphism of the APC Gene in a Patient with Familial Adenomatous Polyposis Coli Jpn. J. Clin. Oncol., April 1, 2000; 30(4): 204 - 206. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Enomoto, M. Konishi, T. Iwama, J. Utsunomiya, K.-i. Sugihara, and M. Miyaki The Relationship Between Frequencies of Extracolonic Manifestations and the Position of APC Germline Mutation in Patients with Familial Adenomatous Polyposis Jpn. J. Clin. Oncol., February 1, 2000; 30(2): 82 - 88. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P Rozen, Z Samuel, R Shomrat, and C Legum Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9 Gut, December 1, 1999; 45(6): 829 - 833. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Dihlmann, J. Gebert, A. Siermann, C. Herfarth, and M. von Knebel Doeberitz Dominant Negative Effect of the APC1309 Mutation: A Possible Explanation for Genotype-Phenotype Correlations in Familial Adenomatous Polyposis Cancer Res., April 1, 1999; 59(8): 1857 - 1860. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. J. Laken, N. Papadopoulos, G. M. Petersen, S. B. Gruber, S. R. Hamilton, F. M. Giardiello, J. D. Brensinger, B. Vogelstein, and K. W. Kinzler Analysis of masked mutations in familial adenomatous polyposis PNAS, March 2, 1999; 96(5): 2322 - 2326. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. N. Mahmoud, R. T. Bilinski, M. R. Churchill, W. Edelmann, R. Kucherlapati, and M. M. Bertagnolli Genotype-Phenotype Correlation in Murine Apc Mutation: Differences in Enterocyte Migration and Response to Sulindac Cancer Res., January 1, 1999; 59(2): 353 - 359. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Soravia, S. L. Sugg, T. Berk, A. Mitri, H. Cheng, S. Gallinger, Z. Cohen, S. L. Asa, and B. V. Bapat Familial Adenomatous Polyposis-Associated Thyroid Cancer : A Clinical, Pathological, and Molecular Genetics Study Am. J. Pathol., January 1, 1999; 154(1): 127 - 135. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J D Brensinger, S J Laken, M C Luce, S M Powell, G H Vance, D J Ahnen, G M Petersen, S R Hamilton, and F M Giardiello Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene Gut, October 1, 1998; 43(4): 548 - 552. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H T LYNCH and P WATSON AFAP: variety is the spice of life Gut, October 1, 1998; 43(4): 451a - 451. [Full Text]
|
|
|
|
|
|
B A Leggett, J P Young, K Biden, R L Buttenshaw, N Knight, and A E Cowen Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520 Gut, October 1, 1997; 41(4): 518 - 521. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
| Cancer Research | Clinical Cancer Research |
| Cancer Epidemiology Biomarkers & Prevention | Molecular Cancer Therapeutics |
| Molecular Cancer Research | Cancer Prevention Research |
| Cancer Prevention Journals Portal | Cancer Reviews Online |
| Annual Meeting Education Book | Meeting Abstracts Online |
