Four novel germline mutations of the APC gene

Wells, Dagan; Chapman, Peter; Landgrebe, Judith C.; Tsioupra, Katia; Delhanty, Joy D. A.

doi:10.1002/(sici)1098-1004(1996)8:2<193::aid-humu16>3.0.co;2-y

Search citation statements

Order By: Relevance

Paper Sections

Select...

Results1

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2001

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

(1 citation statement)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This 2‐bp deletion (AG) at codon 1465 has been already reported in the literature [29–33] and noted nine times in the web site [http://perso.curie.fr/Thierry.Soussi/APC.html] but we present the first long clinical follow‐up of several patients harbouring a germline mutation at codon 1465. It is well recognized that patients with mutations between codons 1444 and 1578 more frequently develop osteomas, epidermoid cysts, upper gastrointestinal polyps, severe desmoid tumours [25] and do not express CHRPE.…”

Section: Resultsmentioning

confidence: 52%

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

et al. 2001

View full text Add to dashboard Cite

We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients' phenotype.

show abstract

Section: Resultsmentioning

confidence: 52%