<i>MED12</i> , the <i>Mediator Complex Subunit 12</i> Gene, Is Mutated at High Frequency in Uterine Leiomyomas

Netta Mäkinen(University of Helsinki), Miika Mehine(University of Helsinki), Jaana Tolvanen(University of Helsinki), Eevi Kaasinen(University of Helsinki), Yilong Li(University of Helsinki), Heli Lehtonen(University of Helsinki), Massimiliano Gentile(CSC - IT Center for Science (Finland)), Jian Yan(Science for Life Laboratory), Martin Enge(Science for Life Laboratory), Minna Taipale(University of Helsinki), Mervi Aavikko(University of Helsinki), Riku Katainen(University of Helsinki), Elina Virolainen(University of Helsinki), Tom Böhling(University of Helsinki), Taru A. Koski(University of Helsinki), Virpi Launonen(University of Helsinki), Jari Sjöberg(Helsinki University Hospital), Jussi Taipale(University of Helsinki), Pia Vahteristo(University of Helsinki), Lauri A. Aaltonen(University of Helsinki)
Science
August 25, 2011
10.1126/science.1208930
Cited by 659

Abstract

Uterine leiomyomas, or fibroids, are benign tumors that affect millions of women worldwide and that can cause considerable morbidity. To study the genetic basis of this tumor type, we examined 18 uterine leiomyomas derived from 17 different patients by exome sequencing and identified tumor-specific mutations in the mediator complex subunit 12 (MED12) gene in 10. Through analysis of 207 additional tumors, we determined that MED12 is altered in 70% (159 of 225) of tumors from a total of 80 patients. The Mediator complex is a 26-subunit transcriptional regulator that bridges DNA regulatory sequences to the RNA polymerase II initiation complex. All mutations resided in exon 2, suggesting that aberrant function of this region of MED12 contributes to tumorigenesis.

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