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  Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer

Kämpjärvi, K., Mäkinen, N., Kilpivaara, O., Arola, J., Heinonen, H.-R., Böhm, J., et al. (2012). Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer. British Journal of Cancer, 107, 1761-1765.

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Kämpjärvi.pdf (Publisher version), 249KB
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Kämpjärvi, K., Author
Mäkinen, N., Author
Kilpivaara, O., Author
Arola, J., Author
Heinonen, H.-R., Author
Böhm, J., Author
Abdel-Wahab, O., Author
Lehtonen, H. J., Author
Pelttari, L. M., Author
Mehine, M., Author
Schrewe, Heinrich1, Author           
Nevanlinna, H., Author
Levine, R. L., Author
Hokland, P., Author
Böhling, T., Author
Mecklin, J.-P., Author
Bützow, R., Author
Aaltonen, L. A., Author
Vahteristo, P., Author
Affiliations:
1Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr. 73, 14195 Berlin, Germany, ou_1433548              

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Free keywords: MED12; mutation screening; somatic mutation; benign tumours; malignant tumours
 Abstract: Background: Mediator complex participates in transcriptional regulation by connecting regulatory DNA sequences to the RNA polymerase II initiation complex. Recently, we discovered through exome sequencing that as many as 70% of uterine leiomyomas harbour specific mutations in exon 2 of mediator complex subunit 12 (MED12). In this work, we examined the role of MED12 exon 2 mutations in other tumour types. Methods: The frequency of MED12 exon 2 mutations was analysed in altogether 1158 tumours by direct sequencing. The tumour spectrum included mesenchymal tumours (extrauterine leiomyomas, endometrial polyps, lipomas, uterine leiomyosarcomas, other sarcomas, gastro-intestinal stromal tumours), hormone-dependent tumours (breast and ovarian cancers), haematological malignancies (acute myeloid leukaemias, acute lymphoid leukaemias, myeloproliferative neoplasms), and tumours associated with abnormal Wnt-signalling (colorectal cancers (CRC)). Results: Five somatic alterations were observed: three in uterine leiomyosarcomas (3/41, 7%; Gly44Ser, Ala38_Leu39ins7, Glu35_Leu36delinsVal), and two in CRC (2/392, 0.5%; Gly44Cys, Ala67Val). Conclusion: Somatic MED12 exon 2 mutations were observed in uterine leiomyosarcomas, suggesting that a subgroup of these malignant tumours may develop from a leiomyoma precursor. Mutations in CRC samples indicate that MED12 may, albeit rarely, contribute to CRC tumorigenesis.

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 Dates: 2012-09-20
 Publication Status: Published online
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Title: British Journal of Cancer
Source Genre: Journal
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Pages: - Volume / Issue: 107 Sequence Number: - Start / End Page: 1761 - 1765 Identifier: ISSN: 0007-0920
CoNE: https://pure.mpg.de/cone/journals/resource/954927651809