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

Details

Serval ID
serval:BIB_842A0210FE11
Type
Article: article from journal or magazin.
Collection
Publications
Title
Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis
Journal
Human Mutation
Author(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)
Publication state
Published
Issued date
12/2001
Volume
18
Number
6
Pages
550
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Abstract
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.
Keywords
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
Yes
Create date
28/01/2008 13:58
Last modification date
08/05/2019 21:18
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