Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline D N A of 81 unrelated FAP patients and evalua
Frequency of codon 1061 and codon 1309 APC mutations in Australian familial adenomatous polyposis patients
β Scribed by Margaret Schnitzler; David Koorey; Trisha Dwight; Constantine Tomaras; Finlay Macrae; Debbie Marsh; Bruce Robinson
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 349 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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## 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
Germline mutations in the tumor-suppresor APC gene are associated with hereditary familial adenomatous polyposis (FAP) and somatic mutations are common in sporadic colorectal cancer. In this study, we report the identification of three novel germline mutations: 1682-1683insA, 3252-3253insAT, 3544A>T
## Abstract Patients with familial adenomatous polyposis coli (FAP) carry heterozygous mutations of the __APC__ gene. At a young age, these patients develop multiple colorectal adenomas that consistently display a second somatic mutation in the remaining __APC__ wildβtype allele. Inactivation of AP
Germline mutations in the APC gene are responsible for familial adenomatous polyposis (FAP), a dominantly inherited syndrome characterized by the development of hundreds to thousands of polyps in the colon and in the rectum of affected individuals and by variable extracolonic manifestations (gastric