POLE mutations in families predisposed to cutaneous melanoma.
Aoude LG, Heitzer E, Johansson P, Gartside M, Wadt K, Pritchard AL, Palmer JM, Symmons J, Gerdes AM, Montgomery GW, Martin NG, Tomlinson I, Kearsey S, Hayward NK.
Aoude LG, et al.
Fam Cancer. 2015 Dec;14(4):621-8. doi: 10.1007/s10689-015-9826-8.
Fam Cancer. 2015.
PMID: 26251183
Functional assays in S. pombe showed that this mutation led to an increased DNA mutation rate comparable to that seen with a Pol epsilon mutant with no exonuclease activity. We then performed targeted sequencing of POLE in 1243 cutaneous melanoma cases and found that a fur …
Functional assays in S. pombe showed that this mutation led to an increased DNA mutation rate comparable to that seen with a Pol epsilon mut …