Cis-Compound Mutations are Prevalent in Triple Negative Breast Cancer and Can Drive Tumor Progression
作者： Nao Hiranuma , Jie Liu , Chaozhong Song , Jacob Goldsmith , Michael Dorschner
DOI: 10.1101/085316
关键词: Cancer research 、 Omics 、 Allele 、 Exome sequencing 、 Triple-negative breast cancer 、 Breast cancer 、 Progesterone receptor 、 Tumor progression 、 Estrogen receptor 、 Biology 、 Bioinformatics
摘要: About 16% of breast cancers fall into a clinically aggressive category designated triple negative (TNBC) due to lack ERBB2, estrogen receptor and progesterone expression1-3. The mutational spectrum TNBC has been characterized as part Cancer Genome Atlas (TCGA)4; however, snapshots primary tumors cannot reveal the mechanisms by which TNBCs progress spread. To address this limitation we initiated Intensive Trial OMics in (ITOMIC)-001, patients with metastatic undergo multiple biopsies over space time5. Whole exome sequencing (WES) 67 samples from 11 identified 426 genes containing distinct single nucleotide variants (SNVs) within same sample, instances term Multiple SNVs affecting Same Gene Sample (MSSGS). We find that >90% MSSGS result cis-compound mutations (in both affect allele), comprised adjacent nucleotides arise events, most other sequential acquisition SNVs. Some drive cancer progression, exemplified driven FGFR2(S252W;Y375C). are more prevalent than subtypes occur at higher-than-expected frequencies across TCGA. may denote play yet unrecognized roles progression.
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