DNA testing and molecular screening for colon cancer.
DNA testing and molecular screening for colon cancer.
复制标题
结肠癌的DNA测试和分子筛选。
DOI：
10.1016/j.cgh.2013.12.007
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发表时间：
2014-03
影响因子：
12.6
通讯作者：
Carethers, John M.
中科院分区：
文献类型：
--
作者：
Carethers, John M.
结肠癌的发展和进展是异常细胞分子变化的结果，其中许多导致突变DNA。现代分子技术允许检查个体患者的遗传数据，这些遗传数据归因于风险，预测结果和/或修改治疗方法。DNA检测和分子筛查今天正在使用，并正在成为常规患者护理的关键和必要部分。评估遗传性结肠癌的风险患者预计将从今天通常进行的个体基因检测转移到全外显子组或全基因组测序，提供可能与结肠癌综合征无关的患者基因组的额外大量信息。从粪便中脱落的肿瘤细胞中检测突变DNA用于结肠癌筛查将随着时间的推移提高诊断准确性，并通过临床测试和检查突变DNA组的改进。直接从结肠癌中检测到的DNA突变和其他分子变化有助于告知和指导医生最佳的方法，以获得最佳的患者护理和结果。在晚期结肠癌患者中使用表皮生长因子受体靶向治疗需要了解KRAS和BRAF基因的突变状态，了解PIK 3CA的突变状态可以预测患者对阿司匹林的反应，以预防结肠癌复发。生物驱动的决策，或精准医学，正越来越多地被用于结肠癌患者的最佳护理和结果。胃肠病学家需要越来越多地意识到这一点。
Colon cancer develops and progresses as a consequence of abnormal cellular molecular changes, many of which result in mutant DNA. Modern molecular techniques allow examination of individual patient genetic data that ascribe risk, predict outcome, and/or modify an approach to therapy. DNA testing and molecular screening are in use today and are becoming a critical and necessary part of routine patient care. Assessing at-risk patients for hereditary colon cancer is predicted to move from individual gene testing that is commonly performed today to whole exome or whole genome sequencing, providing additional vast information of the patient’s genome that might not be related to the colon cancer syndrome. Detecting mutant DNA from shed tumor cells in fecal material for colon cancer screening will increase in diagnostic accuracy over time, with improvements in the panel of mutant DNA being examined and through clinical testing. DNA mutations and other molecular changes detected directly from within the colon cancer help to inform and guide the physician for the best approach for optimal patient care and outcome. The use of epidermal growth factor receptor–targeted therapy in advanced colon cancer patients requires knowledge of the mutation status for KRAS and BRAF genes, and knowing the mutational status of PIK3CA may predict how patients respond to aspirin to prevent colon cancer recurrence. Biologically driven decision-making, or precision medicine, is becoming increasingly adopted for optimal care and outcome for colon cancer patients. Gastroenterologists will need to be increasingly aware.
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影响因子：
29.4
作者：
Boland CR;Goel A
通讯作者：
Goel A
DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
30.8
作者：
Jaeger E;Leedham S;Lewis A;Segditsas S;Becker M;Cuadrado PR;Davis H;Kaur K;Heinimann K;Howarth K;HMPS Collaboration;East J;Taylor J;Thomas H;Tomlinson I
通讯作者：
Tomlinson I
DOI：
10.1038/gim.2013.113
发表时间：
2013-11
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
45.3
作者：
Venook, Alan P.;Niedzwiecki, Donna;Bertagnolli, Monica M.
通讯作者：
Bertagnolli, Monica M.