The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.
Open accessAbstract
We searched for germ-line mutations of the APC gene in 79 unrelated patients with familial adenomatous polyposis using a ribonuclease protection analysis coupled with polymerase chain reaction amplifications of genomic DNA. Mutations were found in 53 patients (67%); 28 of the mutations were small deletions and 2 were 1- to 2-base-pair insertions; 19 were point mutations resulting in stop codons and only 4 were missense point mutations. Thus, 92% of the mutations were predicted to result in truncations of the APC protein. More than two-thirds (68%) of the mutations were clustered in the 5' half of the last exon, and nearly two-fifths of the total mutations occurred at one of five positions. This information has significant implications for understanding the role of APC mutation in inherited forms of colorectal neoplasia and for designing effective methods for genetic counseling and presymptomatic diagnosis.
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Cites
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Self-citationMutations of Chromosome 5q21 Genes in FAP and Colorectal Cancer Patients
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Cited by
APC mutations occur early during colorectal tumorigenesis
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Stem Cells, Self-Renewal, and Differentiation in the Intestinal Epithelium
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Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene
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Cyclooxygenase-2 Inhibitors in Tumorigenesis (Part I)
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Metadata
- Authors
- Miyoshi, Y., Ando, H., Nagase, H., Nishisho, I., Horii, A., Miki, Y., Mori, T., Utsunomiya, J., Baba, S., & Petersen, G.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1992-05-15
- Volume
- 89
- Issue
- 10
- Pages
- 4452-4456
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2085403697
- Cited by
- 566
- References
- 23
- FWCI
- 44.82
- Type
- journal article
- Language
- en
- Open access
- green
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- Miyoshi, Y., Ando, H., Nagase, H., Nishisho, I., Horii, A., Miki, Y., Mori, T., Utsunomiya, J., Baba, S., & Petersen, G. (1992). Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.89.10.4452
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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