Colorectal Adenomatous Polyposis Associated withMYHMutations: Genotype and Phenotype Characteristics
✍ Scribed by Guillaume Bouguen; Sylvain Manfredi; Martine Blayau; Catherine Dugast; Bruno Buecher; Dominique Bonneau; Laurent Siproudhis; Véronique David; Jean-François Bretagne
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 281 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0012-3706
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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
Affected members of hereditary non-polyposis colorectal cancer (HNPCC) families develop colorectal cancer at an early age (mean 45 yr) and frequently get extracolonic cancers particularly in the uterus, urinary tract, and small intestine. They have a high risk of developing more than one primary col