## Germline mutations within the adenomatous polyposis coli (APC ) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations with
Hypermethylation of the APC (adenomatous Polyposis Coli) gene promoter region in human colorectal carcinoma
✍ Scribed by Mikko O. Hiltunen; Leena Alhonen; Jari Koistinaho; Sanna Myöhänen; Matti Pääkkönen; Sinikka Marin; Veli-Matti Kosma; Juhani Jänne
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- French
- Weight
- 206 KB
- Volume
- 70
- Category
- Article
- ISSN
- 0020-7136
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✦ Synopsis
Germline mutations of the putative tumor suppressor gene APC are associated in high frequency with the familial adenomatous polyposis, predisposing the patients to colorectal neoplasia. Similarly, sequence analyses have revealed that in more than half of patients with sporadic colorectal carcinoma or adenoma, the APC gene was mutated. By employing genomic sequencing, i.e., base-specific analysis of methylated cytosines, we show here that the promoter region of the APC gene is heavily methylated at CpG sites in patients with colorectal carcinoma in comparison with normal colonic mucosa and premalignant adenomas. Our results suggest that cytosine methylation of the regulatory sequences of the APC gene could be involved in the progression of human colorectal cancer.
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