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ARID1A

MIM.603024 1p36.1-p35

Thursday 14 June 2007

BAF250a

Definition: ARID1A is a recently identified tumor suppressor that functions in chromatin remodeling.

ARID1A gene product is a 120-kD cytoplasmic protein expressed in various tissues including skeletal muscle, brain, and spleen.

Pathology

- 1p36.11 LOH is observed in human cancers

  • ARID1A could have a tumor suppressor role (17492758).

- Inactivating mutations of ARID1A and loss of its expression most frequently occur in ovarian clear cell carcinoma, ovarian endometrioid carcinoma, and uterine endometrioid carcinoma. (24076775)

  • Loss of ARID1A expression, presumably due to mutation, plays an important role in tumor progression of uterine endometrioid carcinoma. (24076775)

References

- Loss of ARID1A Expression Correlates With Stages of Tumor Progression in Uterine Endometrioid Carcinoma. Mao TL, Ardighieri L, Ayhan A, Kuo KT, Wu CH, Wang TL, Shih IeM. Am J Surg Pathol. 2013 Sep;37(9):1342-8. doi : 10.1097/PAS.0b013e3182889dc3 PMID: 24076775

- Loss of BAF250a (ARID1A) is frequent in high-grade endometrial carcinomas. Wiegand KC, Lee AF, Al-Agha OM, Chow C, Kalloger SE, Scott DW, Steidl C, Wiseman SM, Gascoyne RD, Gilks B, Huntsman DG. J Pathol. 2011 Jul;224(3):328-33. PMID: 21590771

- Huang J, Zhao YL, Li Y, Fletcher JA, Xiao S. Genomic and functional evidence for an ARID1A tumor suppressor role. Genes Chromosomes Cancer. 2007 May 10;46(8):745-750 PMID: 17492758