Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types

Abstract

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.

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Cited by papers we hold 7

• Targeting AURKA-CDC25C axis to induce synthetic lethality in ARID1A-deficient colorectal cancer cells · 2018
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• ARID1A Is Essential for Endometrial Function during Early Pregnancy. · 2015
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• Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors · 2015
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• Loss of ARID1A expression sensitizes cancer cells to PI3K- and AKT-inhibition · 2014
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• Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes · 2014
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• The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers · 2013
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• ARID1A Mutations and PI3K/AKT Pathway Alterations in Endometriosis and Endometriosis-Associated Ovarian Carcinomas · 2013
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