Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM)

被引：70

作者：

Carter, Hannah ^{[1
,2
]}

Samayoa, Josue ^{[1
,2
]}

Hruban, Ralph H. ^{[3
,4
]}

Karchin, Rachel ^{[1
,2
]}

机构：

[1] Johns Hopkins Kimmel Canc Ctr, Dept Biomed Engn, Baltimore, MD USA

[2] Johns Hopkins Kimmel Canc Ctr, Inst Computat Med, Baltimore, MD USA

[3] Johns Hopkins Kimmel Canc Ctr, Dept Oncol, Baltimore, MD USA

[4] Johns Hopkins Kimmel Canc Ctr, Sol Goldman Pancreat Canc Res Ctr, Dept Pathol, Baltimore, MD USA

来源：

CANCER BIOLOGY & THERAPY | 2010年 / 10卷 / 06期

基金：

美国国家科学基金会;

关键词：

pancreatic cancer; cancer drivers; CHASM; missense mutations; somatic mutations; DIACYLGLYCEROL-KINASE-ALPHA; CATALYTIC SUBUNIT; INDUCED APOPTOSIS; KIDNEY-DISEASE; HUMAN BREAST; PROTEIN; LOCALIZATION; ACTIVATION; EXPRESSION; MICE;

D O I：

10.4161/cbt.10.6.12537

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Over 20,000 genes were recently sequenced in a series of 24 pancreatic cancers. We applied CHASM (Cancer-specific High-throughput Annotation of Somatic Mutations) to 963 of the missense somatic missense mutations discovered in these 24 cancers. CHASM identified putative driver mutations (false discovery rate <= 0.3) in three known pancreatic cancer driver genes (P53, SMAD4, CDKN2A). An additional 15 genes with putative driver mutations include genes coding for kinases (PIK3CG, DGKA, STK33, TTK and PRKCG), for cell cycle related proteins (NEK8), and for proteins involved in cell adhesion (CMAS, PCDHB2). These and other mutations identified by CHA SM point to potential "driver genes" in pancreatic cancer that should be prioritized for additional follow-up.

引用

页码：582 / 587

页数：6

共 47 条

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