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Eleven novel APC mutations identified in Portuguese FAP families
Author(s) -
Isidro G.,
Matos P.,
Almeida S.,
Claudino S.,
Marshall B.,
Soares J.,
Leite J.,
Regateiro F.,
Brito M.J.,
Giria J.,
Castro C.,
Ramos J.,
Novais L.,
Morna H.,
Medeira A.,
Castedo S.,
Boavida M.G.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200008)16:2<178::aid-humu15>3.0.co;2-#
Subject(s) - biology , genetics , portuguese , mutation , computational biology , gene , philosophy , linguistics
Germline mutations of the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominant predisposition to colorectal cancer. In the present study we screened all of the exons of the APC gene in individuals belonging to 85 Portuguese FAP families. We here report eleven novel mutations which are predominantly frameshifts or single base substitutions, resulting in premature stop codons. Hum Mutat 16:178, 2000. © 2000 Wiley‐Liss, Inc.