Improved Marker Combination for Detection of De Novo Genetic Variation and Aberrant DNA in Colorectal Neoplasia | Zendy

Lisa Kann | Zendy; James Han | Zendy; David A. Ahlquist | Zendy; Theodore R. Levin | Zendy; Douglas K. Rex | Zendy; Duncan Whitney | Zendy; Sanford D. Markowitz | Zendy; Anthony P. Shuber | Zendy

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Improved Marker Combination for Detection of De Novo Genetic Variation and Aberrant DNA in Colorectal Neoplasia

Author(s) -

Lisa Kann,

James Han,

David A. Ahlquist,

Theodore R. Levin,

Douglas K. Rex,

Duncan Whitney,

Sanford D. Markowitz,

Anthony P. Shuber

Publication year - 2006

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.2007.070896

Subject(s) - kras , colorectal cancer , exon , biology , genetic marker , mutation , cancer research , microbiology and biotechnology , pathology , cancer , medicine , genetics , gene

The genetic heterogeneity of sporadic colorectal cancer (CRC) makes the choice of genetic markers and sequence variation-detection technologies critical to the performance of screening assays. We have previously described the effectiveness of a CRC assay composed of 22 known variants in KRAS, APC, TP53, and BAT-26 (V1). We introduce a new marker formulation (V2) that includes detection of de novo variation in APC, PIK3CA, and CTNNB1, hypermethylated sequences within SMARCA3 and VIM, and a single-base variation within BRAF. We compared the abilities of the V1 and V2 markers to detect aberrant DNA in colorectal neoplasias.

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