Detection of APC Gene Deletions Using Quantitative Multiplex PCR of Short Fluorescent Fragments | Zendy

Ester Castellsagué | Zendy; Sara González | Zendy; Marga Nadal | Zendy; Olga Campos | Zendy; Elisabet Guinó | Zendy; Miguel Urioste | Zendy; Ignacio Blanco | Zendy; Thierry Frébourg | Zendy; Gabriel Capellá | Zendy

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Detection of APC Gene Deletions Using Quantitative Multiplex PCR of Short Fluorescent Fragments

Author(s) -

Ester Castellsagué,

Sara González,

Marga Nadal,

Olga Campos,

Elisabet Guinó,

Miguel Urioste,

Ignacio Blanco,

Thierry Frébourg,

Gabriel Capellá

Publication year - 2008

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2007.101006

Subject(s) - multiplex ligation dependent probe amplification , multiplex , microbiology and biotechnology , exon , biology , familial adenomatous polyposis , adenomatous polyposis coli , mutyh , copy number variation , gene , multiplex polymerase chain reaction , genetics , gene dosage , point mutation , fluorescence in situ hybridization , mutation , polymerase chain reaction , cancer , colorectal cancer , chromosome , genome , gene expression , germline mutation

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.

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