دورية أكاديمية
Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer
| العنوان: | Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer |
|---|---|
| المؤلفون: | Kämpjärvi, K., Mäkinen, N., Kilpivaara, O., Arola, J., Heinonen, H., Böhm, J., Abdel-Wahab, O., Lehtonen, H., Pelttari, L., Mehine, M., Schrewe, H., Nevanlinna, H., Levine, R., Hokland, P., Böhling, T., Mecklin, J., Bützow, R., Aaltonen, L., Vahteristo, P. |
| المصدر: | British Journal of Cancer |
| سنة النشر: | 2012 |
| المجموعة: | Max Planck Society: MPG.PuRe |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | unknown |
| العلاقة: | http://hdl.handle.net/11858/00-001M-0000-000E-B8AE-ETest; http://hdl.handle.net/11858/00-001M-0000-000E-B8B2-2Test |
| الإتاحة: | http://hdl.handle.net/11858/00-001M-0000-000E-B8AE-ETest http://hdl.handle.net/11858/00-001M-0000-000E-B8B2-2Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.ABD1F7BC |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |