Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1

被引：1334

作者：

Agrawal, Nishant ^{[1
,2
,3
]}

Frederick, Mitchell J. ^{[4
]}

Pickering, Curtis R. ^{[4
]}

Bettegowda, Chetan ^{[2
,3
,5
]}

Chang, Kyle ^{[6
]}

Li, Ryan J. ^{[1
]}

Fakhry, Carole ^{[1
]}

Xie, Tong-Xin ^{[4
]}

Zhang, Jiexin ^{[7
]}

Wang, Jing ^{[7
]}

Zhang, Nianxiang ^{[7
]}

El-Naggar, Adel K. ^{[8
]}

Jasser, Samar A. ^{[4
]}

Weinstein, John N. ^{[7
]}

Trevino, Lisa ^{[6
]}

Drummond, Jennifer A. ^{[6
]}

Muzny, Donna M. ^{[6
]}

Wu, Yuanqing ^{[6
]}

Wood, Laura D. ^{[9
]}

Hruban, Ralph H. ^{[9
]}

Westra, William H. ^{[9
]}

Koch, Wayne M. ^{[1
]}

Califano, Joseph A. ^{[1
,10
]}

Gibbs, Richard A. ^{[6
,10
]}

Sidransky, David ^{[1
]}

Vogelstein, Bert ^{[2
,3
]}

Velculescu, Victor E. ^{[2
,3
]}

Papadopoulos, Nickolas ^{[2
,3
]}

Wheeler, David A. ^{[6
]}

Kinzler, Kenneth W. ^{[2
,3
]}

Myers, Jeffrey N. ^{[4
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Otolaryngol Head & Neck Surg, Baltimore, MD 21287 USA

[2] Johns Hopkins Kimmel Canc Ctr, Ludwig Ctr Canc Genet, Baltimore, MD 21231 USA

[3] Johns Hopkins Kimmel Canc Ctr, Howard Hughes Med Inst, Baltimore, MD 21231 USA

[4] Univ Texas MD Anderson Canc Ctr, Dept Head & Neck Surg, Houston, TX 77030 USA

[5] Johns Hopkins Univ, Sch Med, Dept Neurosurg, Baltimore, MD 21287 USA

[6] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[7] Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USA

[8] Univ Texas MD Anderson Canc Ctr, Dept Pathol, Houston, TX 77030 USA

[9] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21287 USA

[10] Greater Baltimore Med Ctr, Milton J Dance Head & Neck Ctr, Baltimore, MD 21204 USA

来源：

SCIENCE | 2011年 / 333卷 / 6046期

基金：

美国国家卫生研究院;

关键词：

HUMAN-PAPILLOMAVIRUS; CANCER STATISTICS; TUMOR-SUPPRESSOR; PATHWAY; GENE; P53;

D O I：

10.1126/science.1206923

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. To explore the genetic origins of this cancer, we used whole-exome sequencing and gene copy number analyses to study 32 primary tumors. Tumors from patients with a history of tobacco use had more mutations than did tumors from patients who did not use tobacco, and tumors that were negative for human papillomavirus (HPV) had more mutations than did HPV-positive tumors. Six of the genes that were mutated in multiple tumors were assessed in up to 88 additional HNSCCs. In addition to previously described mutations in TP53, CDKN2A, PIK3CA, and HRAS, we identified mutations in FBXW7 and NOTCH1. Nearly 40% of the 28 mutations identified in NOTCH1 were predicted to truncate the gene product, suggesting that NOTCH1 may function as a tumor suppressor gene rather than an oncogene in this tumor type.

引用

页码：1154 / 1157

页数：4

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