Major challenges related to tumor biological characteristics in accurate mutation detection of colorectal cancer by next-generation sequencing.
作者： Weihua Li , Tian Qiu , Lei Guo , Jianming Ying
DOI: 10.1016/J.CANLET.2017.09.014
关键词:
摘要: Abstract Next-generation sequencing (NGS) has been used in mutation detection of colorectal cancer (CRC). We here interrogated 747 CRC samples to detect mutations 22 cancer-related genes by using NGS, and explore some key challenges related tumor biology. RAS ( KRAS or NRAS mutations), RAS/BRAF/PIK3CA (mutations , BRAF PIK3CA ) burden any the detected genes) were observed 53.0% (396/747), 57.1% (431/747) 84.2% (629/747) specimens, respectively. Higher frequencies biopsy specimens with ≥20% cellularity than those mutant tumors. No significant differences between primary metastatic Additionally, after chemotherapy showed lower compared without chemotherapy. Together, our findings demonstrate that poor cellularity, heterogeneity adjuvant therapy may confound molecular diagnosis CRC, should be highlighted prospective quality assessment during tissue process.
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