Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments.

Publication Type:

Journal Article

Authors:

Castellsagué, E; González, S; Nadal, M; Campos, O; Guinó, E; Urioste, M; Blanco, I; Frebourg, T; Capellá, G

Source:

Clinical chemistry, Volume 54, Issue 7, p.1132-40 (2008)

URL:

http://www.clinchem.org/cgi/pmidlookup?view=long&pmid=18487285

Abstract:

approximately 20% of classic familial adenomatous polyposis (FAP) cases and 70% to 80% of attenuated FAP (AFAP) cases are negative for the APC/MUTYH point mutation. Quantitative multiplex PCR of short fluorescent fragments (QMPSF), a technique for detecting copy number alterations, has been successfully applied to several cancer syndrome genes. We used QMPSF for the APC gene to screen FAP APC/MUTYH mutation-negative families to improve their diagnostic surveillance.

Pubmed ID: 18487285