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11% mutation frequency of TP53 in non-cancer samples

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发表于 2016-7-20 01:30 |显示全部帖子
Very interesting: Why there are TP53 mutation in non-cancer samples? Really feel surprising??% s5 o3 Z. Y* Q" g) S

- Q# O, o2 I) l3 Y" v/ Nhttp://www.ncbi.nlm.nih.gov/pubmed/27377626% u- @! V. d6 H! |
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Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer.
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9 P# Y7 w9 m" N  X  y# r5 cCirculating tumor DNA (ctDNA) is emerging as a key potential biomarker for post-diagnosis surveillance but it may also play a crucial role in the detection of pre-clinical cancer. Small-cell lung cancer (SCLC) is an excellent candidate for early detection given there are no successful therapeutic options for late-stage disease, and it displays almost universal inactivation of TP53. We assessed the presence of TP53 mutations in the cell-free DNA (cfDNA) extracted from the plasma of 51 SCLC cases and 123 non-cancer controls. We identified mutations using a pipeline specifically designed to accurately detect variants at very low fractions. We detected TP53 mutations in the cfDNA of 49% SCLC patients and 11.4% of non-cancer controls. When stratifying the 51 initial SCLC cases by stage, TP53 mutations were detected in the cfDNA of 35.7% early-stage and 54.1% late-stage SCLC patients. The results in the controls were further replicated in 10.8% of an independent series of 102 non-cancer controls. The detection of TP53 mutations in 11% of the 225 non-cancer controls suggests that somatic mutations in cfDNA among individuals without any cancer diagnosis is a common occurrence, and poses serious challenges for the development of ctDNA screening tests.
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