کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10897674 1083926 2015 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Whole exome sequencing identifies driver mutations in asymptomatic computed tomography-detected lung cancers with normal karyotype
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
پیش نمایش صفحه اول مقاله
Whole exome sequencing identifies driver mutations in asymptomatic computed tomography-detected lung cancers with normal karyotype
چکیده انگلیسی
The efficacy of curative surgery for lung cancer could be largely improved by non-invasive screening programs, which can detect the disease at early stages. We previously showed that 18% of screening-identified lung cancers demonstrate a normal karyotype and, following high-density genome scanning, can be subdivided into samples with 1) numerous; 2) none; and 3) few copy number alterations. Whole exome sequencing was applied to the two normal karyotype, screening-detected lung cancers, constituting group 2, as well as normal controls. We identified mutations in both tumors, including KEAP1 (commonly mutated in lung cancers) in one, and TP53, PMS1, and MSH3 (well-characterized DNA-repair genes) in the other. The two normal karyotype screening-detected lung tumors displayed a typical lung cancer mutational profile that only next generation sequencing could reveal, which offered an additional contribution to the over-diagnosis bias concept hypothesized within lung cancer screening programs.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Cancer Genetics - Volume 208, Issue 4, April 2015, Pages 152-155
نویسندگان
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