التفاصيل البيبلوغرافية
| العنوان: |
Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer. |
| المؤلفون: |
Kämpjärvi, K1, Mäkinen, N1, Kilpivaara, O1, Arola, J2, Heinonen, H-R1, Böhm, J3, Abdel-Wahab, O4, Lehtonen, H J1, Pelttari, L M5, Mehine, M1, Schrewe, H6, Nevanlinna, H5, Levine, R L4, Hokland, P7, Böhling, T2, Mecklin, J-P8, Bützow, R2, Aaltonen, L A1, Vahteristo, P1 |
| المصدر: |
British Journal of Cancer. 11/6/2012, Vol. 107 Issue 10, p1761-1765. 5p. 2 Charts. |
| مصطلحات موضوعية: |
*COLON cancer, *SOMATIC mutation, *UTERINE fibroids, *NUCLEOTIDE sequence, *RNA polymerases, *EXONS (Genetics), *MYELOID leukemia |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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