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
A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis
✍ Scribed by Stéphanie Baert-Desurmont; Nicolas Piton; Jacqueline Bou; Julie Tinat; Rosine Guimbaud; Janick Selves; Thierry Frébourg
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 533 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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A family is presented with attenuated familial adenomatous polyposis of variable phenotype. The clinical features range from sparse right-sided polyposis and cancer in the proximal colon at the age of 34 to pan-colonic polyposis and cancer at the age of 68. Rectal sparing is common to all affected m
Analysis of genotype-phenotype correlations in familial adenomatous polyposis (FAP) patients demonstrated that the phenotypic heterogeneity of FAP is partly related to the mutation site. We investigated the molecular basis for the difference in severity of colorectal disease observed comparing FAP p
## Abstract The canonical Wnt pathway plays a key regulatory role in osteoblastogenesis and bone mass acquisition through its main effector, β‐catenin. Adenomatous polyposis coli (APC) represents the key intracellular gatekeeper of β‐catenin turnover, and heterozygous germ‐line mutations in the __A
## Familial Adenomatous Polyposis (FAP) is an autosomal dominant heritable disorder caused by germ-line mutations in the APC gene. To date, more than 300 germ-line mutations within this gene have been described. Using PCR, SSCP and DNA sequencing, we have identified a new mutation in the alternativ