Article
Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.
Nature genetics - 1 Aug 2014
Lim Weng Khong, Ong Choon Kiat, Tan Jing, Thike Aye Aye, Ng Cedric Chuan Young, Rajasegaran Vikneswari, Myint Swe Swe, Nagarajan Sanjanaa, Nasir Nur Diyana Md, McPherson John R, Cutcutache Ioana, Poore Gregory, Tay Su Ting, Ooi Wei Siong, Tan Veronique Kiak Mien, Hartman Mikael, Ong Kong Wee, Tan Benita K T, Rozen Steven G, Tan Puay Hoon, Tan Patrick, Teh Bin Tean
Abstract excerpt
Fibroadenomas are the most common breast tumors in women under 30 (refs. 1,2). Exome sequencing of eight fibroadenomas with matching whole-blood samples revealed recurrent somatic mutations solely in MED12, which encodes a Mediator complex subunit. Targeted sequencing of an additional 90 fibroadenomas confirmed highly frequent MED12 exon 2 mutations (58/98, 59%) that are probably somatic, with 71% of mutations...
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