Atlas of Genetics and Cytogenetics in Oncology and Haematology
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
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C11orf30 (chromosome 11 open reading frame 30)
| Identity |
| Other names | C11ORF30 |
| EMSY | |
| GL002 | |
| ENT0 | |
| HGNC (Hugo) | C11orf30 |
| LocusID (NCBI) | 56946 |
| Location | 11q13.5 |
| Location_base_pair | Starts at 76156069 and ends at 76262589 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| Local_order | CCND1 is also at 11q13 |
| DNA/RNA |
| Description | The gene spans 107 kb; on direct strand |
| Transcription | at least 11 transcripts; one transcript of 4kb and 21 exons encodes a protein of 1323 amino acids and 141 kDa. |
| Protein |
| Localisation | nucleus |
| Function | binds BRCA2 at its N-term transactivation domain; may repress the transcritional activity of BRCA2 |
| Implicated in |
| Entity | C11ORF30/EMSY was found amplified in 7 and 17 % of cases respectively of sporadic breast cancers and high grade ovarian cancers, but very rarely in other cancers tested. |
| Note | 11q13 is frequently amplified in sporadic breast cancers; CCND1, in particular, is amplified in about 20% of cases. However, C11ORF30/EMSY was found amplified in cases with normal CCND1: they are independant factors. |
| Prognosis | C11ORF30/EMSY amplification is associated with a worse prognosis in node-negative breast cancers, and has no prgnosis implication in node-positive breast cancers. |
| External links |
| Bibliography |
| EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. |
| Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T |
| Cell. 2003 ; 115 (5) : 523-535. |
| PMID 14651845 |
| EMSY, a BRCA-2 partner in crime. |
| Livingston DM |
| Nature medicine. 2004 ; 10 (2) : 127-128. |
| PMID 14760417 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 05-2004 | Jean-Loup Huret, Sylvie Senon |
| Citation |
| This paper should be referenced as such : |
| Huret, JL ; Senon, S |
| C11ORF30 (chromosome 11 open reading frame 30) |
| Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):190-190. |
| Free journal version : [ pdf ] [ DOI ] |
| URL : http://AtlasGeneticsOncology.org/Genes/C11ORF30ID173.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Feb 17 20:16:15 CET 2015 |
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