The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Mutations of theAPC adenomatous polyposis coli) gene
Abstract
Several investigators have reported germline mutations of the APC gene in patients with familial adenomatous polyposis (FAP) as well as somatic mutations in tumors developed in digestive organs (stomach, pancreas, colon, and rectum). Those results provide evidence that inactivation of the APC gene plays a significant role in FAP and in sporadic tumors of these tissues. APC mutations have led to some interesting observations. First, the great majority of the mutations found to date would result in truncation of the APC product. Second, almost all the mutations have occurred within the first half of the coding sequence, and somatic mutations in colorectal tumors are further clustered in a particular region called MCR (mutation cluster region). Third, most identified point mutations in the APC gene are transitions from cytosine to other nucleotides. Fourth, the location of germ-line mutations tends to correlate with the number of colorectal polyps in FAP patients. Furthermore, inactivation of both alleles of the APC gene seems to be required as an early event to develop most of adenomas and carcinomas in the colon and rectum as well as some of those in the stomach.
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Cites
Mutation and cancer: statistical study of retinoblastoma
Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612
Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms
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Identification and characterization of the familial adenomatous polyposis coli gene
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Identification of FAP Locus Genes from Chromosome 5q21
Kinzler, K. W., Nilbert, M. C., Su, L.-K., Vogelstein, B., Bryan, T. M., Levy, D. B., Smith, K. J., Preisinger, A. C., Hedge, P., McKechnie, D., et al. (1991) · Science · doi:10.1126/science.1651562 · Cited by 2,355
Self-citationAPC mutations occur early during colorectal tumorigenesis
Powell, S. M., Zilz, N., Beazer-Barclay, Y., Bryan, T. M., Hamilton, S. R., Thibodeau, S. N., Vogelstein, B., & Kinzler, K. W. (1992) · Nature · doi:10.1038/359235a0 · Cited by 1,924
Mutations of Chromosome 5q21 Genes in FAP and Colorectal Cancer Patients
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Self-citationMultiple Intestinal Neoplasia Caused by a Mutation in the Murine Homolog of the APC Gene
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Identification of deletion mutations and three new genes at the familial polyposis locus
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Cited by
Lessons from hereditary colorectal cancer
Kinzler, K. W., & Vogelstein, B. (1996) · Cell · doi:10.1016/s0092-8674(00)81333-1 · Cited by 4,919
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015) · American Journal of Gastroenterology · doi:10.1038/ajg.2014.435 · Cited by 1,662
Linking Colorectal Cancer to Wnt Signaling
Bienz, M., & Clevers, H. (2000) · Cell · doi:10.1016/s0092-8674(00)00122-7 · Cited by 1,515
APC, Signal transduction and genetic instability in colorectal cancer
Fodde, R., Smits, R., & Clevers, H. (2001) · Nature Reviews Cancer · doi:10.1038/35094067 · Cited by 937
Wnt Signaling through Inhibition of β-Catenin Degradation in an Intact Axin1 Complex
Li, V. S. W., Ng, S. S., Boersema, P. J., Low, T. Y., Karthaus, W. R., Gerlach, J. P., Mohammed, S., Heck, A. J. R., Maurice, M. M., Mahmoudi, T., et al. (2012) · Cell · doi:10.1016/j.cell.2012.05.002 · Cited by 889
Metadata
- Authors
- Nagase, H., & Nakamura, Y.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 1993
- Volume
- 2
- Issue
- 6
- Pages
- 425-434
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2036541245
- Cited by
- 393
- References
- 33
- FWCI
- 15.09
- Type
- journal article
- Language
- en
- Open access
- closed
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