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    Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing

    Ya-Sian Chang*†‡§, Chieh-Min Chang†‡, Chien-Yu Lin¶#, Dy-San Chao, Hsi-Yuan Huang, Jan-Gowth Chang*†‡**††

    Oncology Research, Vol.28, No.2, pp. 107-116, 2020, DOI:10.3727/096504019X15698362825407

    Abstract The genomic landscape of breast cancer (BC) is complex. The purpose of this study was to decipher the mutational profiles of Taiwanese patients with BC using next-generation sequencing. We performed whole-exome sequencing on DNA from 24 tumor tissue specimens from BC patients. Sanger sequencing was used to validate the identified variants. Sanger sequencing was also performed on paired adjacent nontumor tissues. After genotype calling and algorithmic annotations, we identified 49 deleterious variants in canonical cancer-related genes in our BC cohort. The most frequently mutated genes were PIK3CA (16.67%), FKBP9 (12.5%), TP53 (12.5%), ATM (8.33%), CHEK2 (8.33%), FOXO3 (8.33%), NTRK1More >

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