The APC variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations

Human Mutation

Volumn 30, Issue 10, 2009, Pages 1412-1418

  Dallosso, Anthony R ^a   Jones, Siân ^a,e   Azzopardi, Duncan ^a   Moskvina, Valentina ^a   Al Tassan, Nada ^a   Williams, Geraint T ^a   Idziaszczyk, Shelley ^a   Davies, D Rhodri ^b   Milewski, Peter ^c   Williams, Sally ^c   Beynon, John ^d   Sampson, Julian R ^a   Cheadle, Jeremy P ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b ANEURIN BEVAN UNIVERSITY HEALTH BOARD   (United Kingdom)

^c Withybush General Hospital   (United Kingdom)

^d SINGLETON HOSPITAL   (United Kingdom)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

AFAP; APC; Colorectal tumorigenesis; FAP; Nonsynonymous variants

Indexed keywords

PRIMER DNA;

ADENOMA; ARTICLE; COLORECTAL TUMOR; GENETIC PREDISPOSITION; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; TUMOR SUPPRESSOR GENE;

ADENOMA; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COLORECTAL NEOPLASMS; DNA PRIMERS; GENES, APC; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; POLYMERASE CHAIN REACTION;

EID: 73349143976     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21089     Document Type: Article

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