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Mutations and deletions of ARID1A in breast tumors

Oncogene volume 31, pages 4255–4256 (2012)Cite this article

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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.

We examined the genomic profiles of 256 breast tumors established by comparative genomic hybridization (244K CGH Microarray, Agilent Technologies, Massy, France). The 1p36.11 region was targeted by heterozygous or homozygous losses in 40% and 3.5% of samples, respectively. Within this region, we found ARID1A heterozygous and homozygous loss in 35.2% and 2% of cases, respectively. We looked at ARID1A expression in the 256 BC samples profiled by Affymetrix microarrays. ARID1A deletions were associated with mRNA downregulation (P=1.2310−6, Student's t-test) (not shown), suggesting that ARID1A haploinsufficiency may have a role in BC. In a series of 2609 invasive BC from 15 public microarray data sets, lower ARID1A gene expression was associated (P<0.05, Student's t-test) with advanced clinical stage (III-IV vs II vs I), high grade (3 vs 2 vs 1), ER-negativity, PR-negativity, ERBB2-positivity and poor-prognosis molecular subtypes (basal vs ERBB2 vs luminal B vs others).

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Acknowledgements

This work was supported by Inserm, Institut Paoli-Calmettes and grants from Institut National du Cancer (FB PLbio 2011-2013) and Ligue Nationale Contre le Cancer (LNCC) (Label DB 2009-2011). DJB has been supported by Asssociation pour la Recherche sur le Cancer.

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Authors and Affiliations

  1. Marseille Cancer Research Center (CRCM),

    S Cornen, J Adelaide, F Bertucci, P Finetti, A Guille, D J Birnbaum, D Birnbaum & M Chaffanet

  2. UMR891 Inserm,

    S Cornen, J Adelaide, F Bertucci, P Finetti, A Guille, D J Birnbaum, D Birnbaum & M Chaffanet

  3. Institut Paoli-Calmettes (IPC),

    S Cornen, J Adelaide, F Bertucci, P Finetti, A Guille, D J Birnbaum, D Birnbaum & M Chaffanet

  4. Department of Molecular Oncology,

    S Cornen, J Adelaide, F Bertucci, P Finetti, A Guille, D J Birnbaum, D Birnbaum & M Chaffanet

  5. Department of Medical Oncology, IPC, Marseille, France

    F Bertucci

  6. Université Aix-Marseille, Marseille, France

    F Bertucci

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  1. S Cornen
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  2. J Adelaide
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  3. F Bertucci
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  6. D J Birnbaum
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  8. M Chaffanet
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Correspondence to M Chaffanet.

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Cornen, S., Adelaide, J., Bertucci, F. et al. Mutations and deletions of ARID1A in breast tumors. Oncogene 31, 4255–4256 (2012). https://doi.org/10.1038/onc.2011.598

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