Article
Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.
The Journal of pathology - 1 Nov 2017
Andrianova Maria A, Chetan Ghati Kasturirangan, Sibin Madathan Kandi, Mckee Thomas, Merkler Doron, Narasinga Rao Kvl, Ribaux Pascale, Blouin Jean-Louis, Makrythanasis Periklis, Seplyarskiy Vladimir B, Antonarakis Stylianos E, Nikolaev Sergey I
Abstract excerpt
Biallelic mismatch repair deficiency (bMMRD) in tumours is frequently associated with somatic mutations in the exonuclease domains of DNA polymerases POLE or POLD1, and results in a characteristic mutational profile. In this article, we describe the genetic basis of ultramutated high-grade brain tumours in the context of bMMRD. We performed exome sequencing of two second-cousin patients from a large...
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