Research and clinical applications of cancer genome sequencing

被引：6

作者：

Ku, Chee S. ^{[1
]}

Cooper, David N. ^{[2
]}

Ziogas, Demosthenes E. ^{[3
]}

Halkia, Eugenia ^{[4
]}

Tzaphlidou, Margaret ^{[3
]}

Roukos, Dimitrios H. ^{[3
]}

机构：

[1] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[2] Cardiff Univ, Sch Med, Inst Med Genet, Cardiff CF10 3AX, S Glam, Wales

[3] CBS GenNetMed Ioannina Univ, Ctr BioSyst & Genom Network Med, Ioannina, Greece

[4] METAXA Canc Mem Hosp, Dept Gynaecol, Piraeus, Greece

来源：

CURRENT OPINION IN OBSTETRICS & GYNECOLOGY | 2013年 / 25卷 / 01期

关键词：

cancer genome; clinical diagnostics; hereditary cancer syndrome; mutational patterns; next-generation sequencing; somatic mutation; OVARIAN-CANCER; MUTATIONS; BREAST; IDENTIFICATION; CARCINOMA; GENES;

D O I：

10.1097/GCO.0b013e32835af17c

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Purpose of review To highlight the recent advances in cancer genome research and its clinical applications made possible by next-generation sequencing (NGS), with particular emphasis on gynecological and breast cancers is the purpose of the review. Recent findings Through advances in NGS technologies, whole-exome sequencing and whole-genome sequencing (WGS) have been performed on various cancers, identifying in the process numerous recurrent mutations and highly mutated genes. These cancers include uterine serous carcinomas, high-grade serous ovarian adenocarcinomas and breast cancer. In contrast to identifying somatic mutations in sporadic cancers, a far smaller number of studies using NGS have been conducted to identify new causal mutations or genes for hereditary cancer syndromes. In addition to research discovery, diagnostic applications of NGS have also become increasingly evident. Thus, WGS has been applied in a diagnostic context to identify a complex chromosomal rearrangement in a patient with acute myeloid leukemia of unclear subtype. Similarly, the targeted sequencing of panels of known cancer genes using NGS has demonstrated its robustness in the context of identifying known pathological mutations. Summary The research and clinical applications of cancer genome sequencing have progressed at an unprecedented pace over the last few years, and this promises to be accelerated with new developments of high-throughput NGS technologies and robust analytical tools.

引用

页码：3 / 10

页数：8

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