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

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 prot...

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Bibliographic Details
Published in:Human mutation 2001-12, Vol.18 (6), p.550-550
Main Authors: Hutter, P., Rey-Berthod, C., Chappuis, P.O., Couturier, A., Membrez, V., Murphy, A., Joris, F., Schorderet, D. F., Delozier-Blanchet, C., Soravia, C.
Format: Article
Language:English
Subjects:
adenomatous polyposis coli
Adenomatous Polyposis Coli - genetics
Adenomatous Polyposis Coli - pathology
Adenomatous Polyposis Coli Protein - genetics
Adolescent
Adult
APC
Child
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
DNA, Complementary - chemistry
DNA, Complementary - genetics
familial adenomatous polyposis
Family Health
FAP
Female
genotype-phenotype correlations
Germ-Line Mutation
Humans
Male
Middle Aged
Mutation
Phenotype
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Summary: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. © 2001 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.1242