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Mutation Frequencies in Patients With Early-Onset Colorectal Cancer
JAMA Oncology ( IF 22.5 ) Pub Date : 2017-11-01 , DOI: 10.1001/jamaoncol.2017.0084
Steven A Narod 1, 2, 3 , Mohammad Akbari 1, 2, 3
Affiliation  

To the Editor Pearlman et al1 show what can be achieved through the cooperation of cancer registries with pathologists and other clinicians. The study participants were 450 newly identified young men and women with colon cancer who were treated at one of 51 Ohio hospitals. Both blood and paraffin-embedded tumor samples were submitted to the core molecular and pathology laboratories. Using a panel of 25 cancer susceptibility genes as a genetic screening test, 72 patients were found to carry a pathogenic mutation; of these, 59 mutations were in genes associated with colon cancer and 13 mutations were in genes associated with breast or pancreatic cancer but not (classically) with colon cancer.



中文翻译:

早发性结直肠癌患者的突变频率

致编辑Pearlman 等人1展示了通过癌症登记处与病理学家和其他临床医生的合作可以实现的目标。研究参与者是 450 名新发现的患有结肠癌的年轻男性和女性,他们在俄亥俄州的 51 家医院之一接受治疗。血液和石蜡包埋的肿瘤样本都被提交给核心分子和病理学实验室。使用一组 25 个癌症易感基因作为基因筛查测试,发现 72 名患者携带致病突变;其中,59 个突变位于与结肠癌相关的基因中,13 个突变位于与乳腺癌或胰腺癌相关的基因中,但与结肠癌无关。

更新日期:2017-11-10
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