Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis

Détails

ID Serval
serval:BIB_842A0210FE11
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis
Périodique
Human Mutation
Auteur(s)
Hutter  P., Rey-Berthod  C., Chappuis  P. O., Couturier  A., Membrez  V., Murphy  A., Joris  F., Schorderet  D. F., Delozier-Blanchet  C., Soravia  C.
ISSN
1098-1004 (Electronic)
Statut éditorial
Publié
Date de publication
12/2001
Volume
18
Numéro
6
Pages
550
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Résumé
Germ-line mutations in the 5' half of the Adenomatous Polyposis Coli (APC) gene are found in about 80% of the patients affected with familial adenomatous polyposis (FAP). The vast majority of these are nonsense or frameshift mutations which result in the loss of the carboxyl terminus of the APC protein. Using an in vivo assay in yeast, we have identified pathogenic germ-line mutations in 26 of 32 (81%) unrelated Swiss families affected with FAP. Nine mutations were novel and eight families were shown to harbor two recurrent mutations. Correlations were attempted between the location of APC germ-line mutations and clinical manifestations of the disease.
Mots-clé
Adenomatous Polyposis Coli/*genetics/pathology Adenomatous Polyposis Coli Protein/*genetics Adolescent Adult Child DNA/chemistry/genetics DNA Mutational Analysis DNA, Complementary/chemistry/genetics Family Health Female Germ-Line Mutation Humans Male Middle Aged Mutation Phenotype
Pubmed
Open Access
Oui
Création de la notice
28/01/2008 13:58
Dernière modification de la notice
08/05/2019 21:18
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