Mutations and deletions of ARID1A in breast tumors

Abstract

Mamo et al. (2011) identified ARID1A as a candidate tumor suppressor gene (TSG) in breast cancer (BC) by an integrated genomic approach. They reported loss of heterozygosity of the ARID1A locus at 1p36.11 in 13% of 82 analyzed BC samples, and an ARID1A nonsense mutation in one out of five BC cell lines. However, they did not find any ARID1A mutation in 11 analyzed BC samples. Low ARID1A RNA expression and nuclear protein expression were associated with aggressive BC phenotypes in two series of ~250 samples.