Detection of somatic mutations in tumors using unaligned clonal sequencing data

• Published in: Laboratory investigation Vol. 94; no. 10; pp. 1173 - 1183
• Main Authors: Sutton, Kate M, Crinnion, Laura A, Wallace, David, Harrison, Sally, Roberts, Paul, Watson, Christopher M, Markham, Alexander F, Bonthron, David T, Quirke, Philip, Carr, Ian M
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.10.2014; Nature Publishing Group
• Subjects: 45/22; 45/23; 45/47; 692/420/755; DNA Mutational Analysis; Genes, erbB-1; Humans; Laboratory Medicine; Medicine; Medicine & Public Health; Neoplasms - genetics; Pathology; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins B-raf - genetics; Proto-Oncogene Proteins p21(ras); ras Proteins - genetics; technical-report

Most cancers arise and evolve as a consequence of somatic mutations. These mutations influence tumor behavior and clinical outcome. Consequently, there is considerable interest in identifying somatic variants within specific genes (such as BRAF , KRAS and EGFR ) so that chemotherapy can be tailored...