## 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
Screening for mutations of the adenomatous polynosis coli (APC) gene in 67 Italian familial adenomatous polyposis: Further evidence of complex genotype-phenotype correlations
β Scribed by Bertario, L.; Giarola, M.; Stagi, L.; Presciuttini, S.; Mondini, P.; Sala, P.; Eboli, M.; Pierotti, M.A.; Radice, P.
- Book ID
- 122846478
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 179 KB
- Volume
- 114
- Category
- Article
- ISSN
- 0016-5085
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π SIMILAR VOLUMES
Mutations in the adenomatous polyposis coli (APC) gene are responsible for the disease familial adenomatous polyposis (FAP), a dominantly inherited predisposition to colorectal cancer. The most common extra-colonic manifestation is congenital hypertrophy of the retinal pigment epithelium (CHRPE), ex
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
## Abstract ## BACKGROUND The authors previously found the I1307K adenomatous polyposis coli (__APC__) gene variant in 5% of Ashkenazi control participants, in 15.4% of those who had familial colorectal neoplasia, but also in 1.6% of nonβAshkenazi control participants. In this study, they evaluate