医学
结直肠癌
癌症研究
肿瘤科
内科学
Wnt信号通路
家族性腺瘤性息肉病
突变
大肠腺瘤性息肉病
癌症
作者
Nishi Kothari,Binglin Yue,Jamie K. Teer,Michael J. Schell,Richard D. Kim
标识
DOI:10.1200/jco.2015.33.3_suppl.652
摘要
652 Background: WNT signaling is abnormal in many inherited and acquired colorectal cancers, through mutations in APC and other components of the pathway including beta catenins and AXINs. Aspirin and other COX-2 inhibitors have been hypothesized to decrease WNT pathway activity in preclinical models, potentially leading to improved survival. We evaluated APC and WNT pathway mutations as potential prognostic and predictive biomarkers for ASA use in a cohort of colorectal cancer patients. Methods: We analyzed tumor samples collected from 468 CRC patients diagnosed between 1998 and 2010 as part of a multi-institutional observational study. We performed targeted exome sequencing using the Illumina NGS platform with 50-100X coverage of mutations. The BWA/GATK pipeline was used to identify variants and indels. Matched normal samples were not available for comparison to identify somatic mutations, so filtering of normal variants was performed using 1000 Genomes. One or 2 mutations in the APC gene were counted a...
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