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

Journal Article (Journal Article;Multicenter Study)

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.

Full Text

Duke Authors

Cited Authors

  • Jones, S; Li, M; Parsons, DW; Zhang, X; Wesseling, J; Kristel, P; Schmidt, MK; Markowitz, S; Yan, H; Bigner, D; Hruban, RH; Eshleman, JR; Iacobuzio-Donahue, CA; Goggins, M; Maitra, A; Malek, SN; Powell, S; Vogelstein, B; Kinzler, KW; Velculescu, VE; Papadopoulos, N

Published Date

  • January 2012

Published In

Volume / Issue

  • 33 / 1

Start / End Page

  • 100 - 103

PubMed ID

  • 22009941

Pubmed Central ID

  • PMC3240719

Electronic International Standard Serial Number (EISSN)

  • 1098-1004

Digital Object Identifier (DOI)

  • 10.1002/humu.21633


  • eng

Conference Location

  • United States