Eleven novel APC mutations identified in Portuguese FAP families.
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.
Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa. gisidro@pen.gulbenkian.pt
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G
Isidro
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P
Matos
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Almeida
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Claudino
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B
Marshall
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J
Soares
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J
Leite
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F
Regateiro
M J
MJ
Brito
J
J
Giria
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C
Castro
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Ramos
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L
Novais
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Morna
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Medeira
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Castedo
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MG
Boavida
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D017491:Genes, APC / Q000235:genetics*; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011174:Portugal