Somatic Mutations in the Chromatin Remodeling Gene ARID1A Occur in Several Tumor Types

被引：238

作者：

Jones, Sian ^{[1
,2
]}

Li, Meng ^{[1
,2
]}

Parsons, D. Williams ^{[3
,4
,5
]}

Zhang, Xiaosong ^{[1
,2
]}

Wesseling, Jelle ^{[6
]}

Kristel, Petra ^{[6
]}

Schmidt, Marjanka K. ^{[6
]}

Markowitz, Sanford ^{[7
,8
,9
]}

Yan, Hai ^{[10
,11
]}

Bigner, Darell ^{[10
,11
]}

Hruban, Ralph H. ^{[12
]}

Eshleman, James R. ^{[12
]}

Iacobuzio-Donahue, Christine A. ^{[12
]}

Goggins, Michael ^{[12
]}

Maitra, Anirban ^{[12
]}

Malek, Sami N. ^{[13
]}

Powell, Steve ^{[14
]}

Vogelstein, Bert ^{[1
,2
]}

Kinzler, Kenneth W. ^{[1
,2
]}

Velculescu, Victor E. ^{[1
,2
]}

Papadopoulos, Nickolas ^{[1
,2
]}

机构：

[1] Johns Hopkins Kimmel Canc Ctr, Ludwig Ctr Canc Genet & Therapeut, Baltimore, MD USA

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

[3] Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX USA

[4] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[5] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[6] Antoni van Leeuwenhoek Hosp, Dept Pathol, Netherlands Canc Inst, Amsterdam, Netherlands

[7] Case Western Reserve Univ, Dept Med, Cleveland, OH 44106 USA

[8] Case Western Reserve Univ, Seidman Canc Ctr, Cleveland, OH 44106 USA

[9] Univ Hosp Cleveland, Case Med Ctr, Cleveland, OH 44106 USA

[10] Duke Univ, Med Ctr, Dept Pathol, Pediat Brain Tumor Fdn, Durham, NC 27710 USA

[11] Duke Univ, Med Ctr, Preston Robert Tisch Brain Tumor Ctr, Durham, NC USA

[12] Johns Hopkins Med Inst, Dept Pathol, Sol Goldman Pancreat Canc Res Ctr, Baltimore, MD 21205 USA

[13] Univ Michigan, Dept Internal Med, Div Hematol & Oncol, Ann Arbor, MI 48109 USA

[14] Univ Virginia Hlth Syst, Div Gastroenterol, Dept Internal Med, Charlottesville, VA USA

来源：

HUMAN MUTATION | 2012年 / 33卷 / 01期

关键词：

ARID1A; cancer; chromatin remodeling; FREQUENT MUTATIONS; CANCER-CELLS; HUMAN BREAST; INACTIVATION; CARCINOMA; GENOMES;

D O I：

10.1002/humu.21633

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in the chromatin remodeling gene ARID1A have recently been identified in the majority of ovarian clear cell carcinomas (OCCCs). To determine the prevalence of mutations in other tumor types, we evaluated 759 malignant neoplasms including those of the pancreas, breast, colon, stomach, lung, prostate, brain, and blood (leukemias). We identified truncating mutations in 6% of the neoplasms studied; nontruncating somatic mutations were identified in an additional 0.4% of neoplasms. Mutations were most commonly found in gastrointestinal samples with 12 of 119 (10%) colorectal and 10 of 100 (10%) gastric neoplasms, respectively, harboring changes. More than half of the mutated colorectal and gastric cancers displayed microsatellite instability (MSI) and the mutations in these tumors were out-of-frame insertions or deletions at mononucleotide repeats. Mutations were also identified in 2-8% of tumors of the pancreas, breast, brain (medulloblastomas), prostate, and lung, and none of these tumors displayed MSI. These findings suggest that the aberrant chromatin remodeling consequent to ARID1A inactivation contributes to a variety of different types of neoplasms. Hum Mutat 33:100-103, 2012. (C) 2011 Wiley Periodicals, Inc.

引用

页码：100 / 103

页数：4

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