## Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and alm
Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis
β Scribed by Madoka Seki; Kiyoko Tanaka; Rei Kikuchi-Yanoshita; Motoko Konishi; Hiroyuki Fukunari; Takeo Iwama; Michiko Miyaki
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 272 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
Endocrine neoplasms have been reported occasionally in patients with familial adenomatous polyposis (FAP). An adrenocorotical carcinoma was studied in a patient with a family history of FAP. Loss of heterozygosity (LOH) in the region close to the adenomatous polyposis coli (APC) gene was detected in this carcinoma, and evidence was obtained that there was a loss of the normal allele of the APC gene. This is the first demonstration of LOH at the APC locus in adrenocortical tumors. The present results and our previous data on LOH in a recurring desmoid tumor suggest that the heterozygous mutant/wild-type condition of the APC gene may give rise to benign tumors, and that functional loss of this gene leads to development of tumors not only in the colon but also in other various parts of the body in FAP patients.
π SIMILAR VOLUMES
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 Accumulation of genetic alterations in oncogenes and tumor suppressor genes causes the transformation of a normal cell into a malignant cell. Recently, Fearon and Vogelstein (Cell 61:759β767, 1990) reported on a model for the genetic pathway in development of colorectal neoplasia. To in
## BACKGROUND. The majority of colorectal carcinomas, if not all, arise from a benign adenoma. The DNA of the carcinomatous cells frequently has mutations in several genes. However, it is not exactly clear when during the neoplastic process each mutation develops. An adenoma with an area of in sit