https://scholars.lib.ntu.edu.tw/handle/123456789/597097
標題: | Non-p.V600E BRAF mutations are common using a more sensitive and broad detection tool | 作者: | Carter J. LI-HUI TSENG Zheng G. Dudley J. Illei P. Gocke C.D. Eshleman J.R. Lin M.-T. |
關鍵字: | BRAF; Colorectal cancer; Lung cancer; Melanoma; Next-generation sequencing | 公開日期: | 2015 | 出版社: | American Society of Clinical Pathologists | 卷: | 144 | 期: | 4 | 起(迄)頁: | 620-628 | 來源出版物: | American Journal of Clinical Pathology | 摘要: | Objectives: To assess the performance of a next-generation sequencing (NGS) platform for the clinical detection of BRAF mutations. Methods: In this retrospective quality assessment of an NGS assay, we analyzed BRAF mutations within parts of exons 11 and 15 in 835 neoplastic tissues submitted to our molecular diagnostics laboratory. Results: The NGS assays detected a BRAF mutation in 5.9% of lung adenocarcinomas, 13% of colorectal cancers, and 44% of melanomas. Mutant allele frequencies were less than 20% in 28% of 88 BRAF-mutated specimens. Two lymph node specimens with subcapsular or infiltrative metastasis showed 1% to 2% mutant alleles. There were 26 unique BRAF mutations in exons 11 and 15, including three novel mutations. Mutations were located outside codon 600 in 39% of BRAF-mutated tumors. Lung adenocarcinomas showed significantly higher non-p.V600E mutations (86%) than did colorectal cancers (23%) and melanomas (34%). The three most common BRAF mutations in lung cancers accounted for only 41% of the observed BRAF mutations (p.D594G [18%], p.V600E [14%], and p.G469A [9%]). Conclusions: The NGS assay demonstrated a high analytic sensitivity and a broad reportable range for clinical detection of BRAF mutations. Elucidating the spectrum of non-p. V600E BRAF mutations in different malignancies is a first step toward understanding their clinical significance. ? American Society for Clinical Pathology. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84945145104&doi=10.1309%2fAJCP85ATMJOZOUDJ&partnerID=40&md5=2b9b0fc26e2a6ae4d41e61efbea7ba71 https://scholars.lib.ntu.edu.tw/handle/123456789/597097 |
ISSN: | 0002-9173 | DOI: | 10.1309/AJCP85ATMJOZOUDJ | SDG/關鍵字: | B Raf kinase; B Raf kinase; BRAF protein, human; Article; codon; colorectal cancer; controlled study; exon; gene frequency; gene mutation; human; human tissue; limit of detection; lung adenocarcinoma; melanoma; metastasis; next generation sequencing; priority journal; pyrosequencing; quality control; retrospective study; sensitivity analysis; DNA microarray; DNA sequence; genetics; high throughput sequencing; neoplasm; nucleotide sequence; procedures; sensitivity and specificity; DNA Mutational Analysis; High-Throughput Nucleotide Sequencing; Humans; Neoplasms; Oligonucleotide Array Sequence Analysis; Proto-Oncogene Proteins B-raf; Retrospective Studies; Sensitivity and Specificity; Sequence Analysis, DNA |
顯示於: | 基因體暨蛋白體醫學研究所 |
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