Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis
- Istituto Nazionale per la Ricerca sul Cancro, Genoa (Italy)
- Univ. of Utah, Salt Lake City (United States)
- Universita di Roma, Rome (Italy)
- Istituto Nazionale Tumori, Milan (Italy)
- Universita di Modena (Italy)
- Universita di Bologna (Italy)
- Istituto Nazionale per la Ricerca sul Cancro, Genoa (Italy) Universita di Napoli, Naples (Italy)
The APC gene is a putative human tumor-suppressor gene responsible for adenomatous polyposis coli (APC), an inherited, autosomal dominant predisposition to colon cancer. It is also implicated in the development of sporadic colorectal tumors. The characterization of APC gene mutations in APC patients is clinically important because DNA-based tests can be applied for presymptomatic diagnosis once a specific mutation has been identified in a family. Moreover, the identification of the spectrum of APC gene mutations in patients is of great interest in the study of the biological properties of the APC gene product. The authors analyzed the entire coding region of the APC gene by the PCR-single-strand conformation polymorphism method in 42 unrelated Italian APC patients. Mutations were found in 12 cases. These consist of small (5-14 bp) base-pair deletions leading to frameshifts; all are localized within exon 15. Two of these deletions, a 5-bp deletion at position 3183-3187 and a 5-bp deletion at position 3926-3930, are present in 3/42 and 7/42 cases of the series, respectively, indicating the presence of mutational hot spots at these two sites. 17 refs., 2 figs., 1 tab.
- OSTI ID:
- 6831144
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:2; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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