Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma
Publication in refereed journal


摘要Despite recent advances in the prevention of cervical cancer, the disease remains a leading cause of cancer-related deaths in women worldwide. By applying the GISTIC2.0 and/or the MutSig2CV algorithms on 430 whole-exome-sequenced cervical carcinomas, we identified previously unreported significantly mutated genes (SMGs) (including MSN, GPX1, SPRED3, FAS, and KRT8), amplifications (including NFIA, GNL1, TGIF1, and WDR87) and deletions (including MIR562, PVRL1, and NTM). Subset analyses of 327 squamous cell carcinomas and 86 non-squamous cell carcinomas revealed previously unreported SMGs in BAP1 and IL28A, respectively. Distinctive copy number alterations related to tumors predominantly enriched for *CpG- and Tp*C mutations were observed. CD274, GRB2, KRAS, and EGFR were uniquely significantly amplified within the Tp*C-enriched tumors. A high frequency of aberrations within DNA damage repair and chromatin remodeling genes were detected. Facilitated by the large sample size derived from combining multiple datasets, this study reveals potential targets and prognostic markers for cervical cancer.
著者Halle Mari K., Sundaresan Aishwarya, Zhang Jianqing, Pedamallu Chandra Sekhar, Srinivasasainagendra Vinodh, Blair Jessica, Brooke Dewey, Bertelsen Bjørn I., Woie Kathrine, Shrestha Sadeep, Tiwari Hemant, Wong Yick Fu, Krakstad Camilla, Ojesina Akinyemi I.
期刊名稱npj Genomic Medicine
頁次1 - 10

上次更新時間 2021-28-11 於 00:24