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

Siân Jones, Meng Li, D. Williams Parsons, Xiaosong Zhang, Jelle Wesseling, Petra Kristel, Marjanka K. Schmidt, Sanford Markowitz, Hai Yan, Darell Bigner, Ralph H. Hruban, James R. Eshleman, Christine A. Iacobuzio-Donahue, Michael Goggins, Anirban Maitra, Sami N. Malek, Steve Powell, Bert Vogelstein, Kenneth W. Kinzler, Victor E. VelculescuNickolas Papadopoulos

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)100-103
Number of pages4
JournalHuman mutation
Issue number1
StatePublished - Jan 2012


  • Arid1a
  • Cancer
  • Chromatin remodeling

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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