TY  - JOUR
A1  - Houle, Armande Ang
A1  - Gibling, Heather
A1  - Lamaze, Fabien C.
A1  - Edgington, Hilary A.
A1  - Soave, David
A1  - Fave, Marie-Julie
A1  - Agbessi, Mawusse
A1  - Bruat, Vanessa
A1  - Stein, Lincoln D.
A1  - Awadalla, Philip
T1  - Aberrant PRDM9 expression impacts the pan-cancer genomic landscape
Y1  - 2018/11/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1611 
EP  - 1620 
DO  - 10.1101/gr.231696.117 
VL  - 28 
IS  - 11 
UR  - http://genome.cshlp.org/content/28/11/1611.abstract 
N2  - The binding of PRDM9 to chromatin is a key step in the induction of DNA double-strand breaks associated with meiotic recombination hotspots; it is normally expressed solely in germ cells. We interrogated 1879 cancer samples in 39 different cancer types and found that PRDM9 is unexpectedly expressed in 20% of these tumors even after stringent gene homology correction. The expression levels of PRDM9 in tumors are significantly higher than those found in healthy neighboring tissues and in healthy nongerm tissue databases. Recurrently mutated regions located within 5 Mb of the PRDM9 loci, as well as differentially expressed genes in meiotic pathways, correlate with PRDM9 expression. In samples with aberrant PRDM9 expression, structural variant breakpoints frequently neighbor the DNA motif recognized by PRDM9, and there is an enrichment of structural variants at sites of known meiotic PRDM9 activity. This study is the first to provide evidence of an association between aberrant expression of the meiosis-specific gene PRDM9 with genomic instability in cancer. 
ER  -