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Gene Review:

C11orf30 - chromosome 11 open reading frame 30

Homo sapiens

Synonyms: EMSY, GL002, Protein EMSY

Rodriguez, C. et al., Raouf, A. et al., Brown, L.A. et al., Hughes-Davies, L. et al., Ekblad, C.M. et al., et al.

Benusiglio, Lesueur, Luccarini, McIntosh, Luben, Smith, Dunning, Easton, Ponder, Pharoah, Hughes-Davies, Huntsman, Ruas, Fuks, Bye, Chin, Milner, Brown, Hsu, Gilks, Nielsen, Schulzer, Chia, Ragaz, Cahn, Linger, Ozdag, Cattaneo, Jordanova, Schuuring, Yu, Venkitaraman, Ponder, Doherty, Aparicio, Bentley, Theillet, Ponting, Caldas, Kouzarides,

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Disease relevance of C11orf30

EMSY maps to chromosome 11q13.5, a region known to be involved in breast and ovarian cancer [1].
In addition, EMSY amplification is associated with worse survival, particularly in node-negative breast cancer, suggesting that it may be of prognostic value [1].
At passage 5 after transduction, 39 (26%) of 150 EMSY/GFP-transduced metaphase cells contained at least one structural chromosomal abnormality compared with 19 (13%) of 150 GFP-transduced metaphase cells (P = .003, chi-square test); at passage 10, the corresponding frequencies were 42% and 15%, respectively (P < .001) [2].
Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas [3].

High impact information on C11orf30

EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer [1].
This is supported by the observation that a number of chromatin-regulator proteins, including HP1beta and BS69, bind directly to EMSY by means of a conserved motif adjacent to the ENT domain [4].
EMSY is a large nuclear protein that binds to the transactivation domain of BRCA2 [4].
This makes EMSY a strong candidate oncogene for the 11q13.5 amplicon [5].
EMSY overexpression correlated strongly with DNA amplification in both primary tumors and cell lines [5].

Biological context of C11orf30

Genomic instability of human mammary epithelial cells overexpressing a truncated form of EMSY [2].
The EMSY protein was shown to interact with BRCA2 and has a role in chromatin remodeling [5].
A highly significant correlation between EMSY gene amplification and RNA expression was also observed (P = 0.0001) [3].
HapMap data might be insufficient to tag genetic variation in EMSY comprehensively [6].
Common variation in EMSY and risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs [6].

Analytical, diagnostic and therapeutic context of C11orf30

In a subset of 296 patients, EMSY amplification was found by both uni- and multivariate analyses to correlate with shortened disease-free survival [5].
EMSY RNA expression levels were studied along with those of five other genes located at 11q13.5 by real-time quantitative PCR in the 39 cell lines and a subset of 65 tumors [5].
METHODS: EMSY amplification was assessed by fluorescent in-situ hybridization (FISH) in 674 ovarian cancers in a tissue microarray and correlated with histopathological subtype and tumor grade [3].

References

EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Hughes-Davies, L., Huntsman, D., Ruas, M., Fuks, F., Bye, J., Chin, S.F., Milner, J., Brown, L.A., Hsu, F., Gilks, B., Nielsen, T., Schulzer, M., Chia, S., Ragaz, J., Cahn, A., Linger, L., Ozdag, H., Cattaneo, E., Jordanova, E.S., Schuuring, E., Yu, D.S., Venkitaraman, A., Ponder, B., Doherty, A., Aparicio, S., Bentley, D., Theillet, C., Ponting, C.P., Caldas, C., Kouzarides, T. Cell (2003) [Pubmed]
Genomic instability of human mammary epithelial cells overexpressing a truncated form of EMSY. Raouf, A., Brown, L., Vrcelj, N., To, K., Kwok, W., Huntsman, D., Eaves, C.J. J. Natl. Cancer Inst. (2005) [Pubmed]
Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas. Brown, L.A., Irving, J., Parker, R., Kim, H., Press, J.Z., Longacre, T.A., Chia, S., Magliocco, A., Makretsov, N., Gilks, B., Pollack, J., Huntsman, D. Gynecol. Oncol. (2006) [Pubmed]
Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69. Ekblad, C.M., Chavali, G.B., Basu, B.P., Freund, S.M., Veprintsev, D., Hughes-Davies, L., Kouzarides, T., Doherty, A.J., Itzhaki, L.S. EMBO Rep. (2005) [Pubmed]
Amplification of the BRCA2 pathway gene EMSY in sporadic breast cancer is related to negative outcome. Rodriguez, C., Hughes-Davies, L., Vallès, H., Orsetti, B., Cuny, M., Ursule, L., Kouzarides, T., Theillet, C. Clin. Cancer Res. (2004) [Pubmed]
Common variation in EMSY and risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs. Benusiglio, P.R., Lesueur, F., Luccarini, C., McIntosh, J., Luben, R.N., Smith, P., Dunning, A., Easton, D.F., Ponder, B.A., Pharoah, P.D. BMC Cancer (2005) [Pubmed]

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