Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.

doi:10.1007/s00401-017-1774-y

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Article

Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.

Acta neuropathologica - 1 Dec 2017

Beyer Ulrike, Brand Frank, Martens Helge, Weder Julia, Christians Arne, Elyan Natalie, Hentschel Bettina, Westphal Manfred, Schackert Gabriele, Pietsch Torsten, Hong Bujung, Krauss Joachim K, Samii Amir, Raab Peter, Das Anibh, Dumitru Claudia A, Sandalcioglu I Erol, Hakenberg Oliver W, Erbersdobler Andreas, Lehmann Ulrich, Reifenberger Guido, Weller Michael, Reijns Martin A M, Preller Matthias, Wiese Bettina, Hartmann Christian, Weber Ruthild G

Abstract excerpt

In search of novel germline alterations predisposing to tumors, in particular to gliomas, we studied a family with two brothers affected by anaplastic gliomas, and their father and paternal great-uncle diagnosed with prostate carcinoma. In this family, whole-exome sequencing yielded rare, simultaneously heterozygous variants in the Aicardi-Goutières syndrome (AGS) genes ADAR and RNASEH2B co-segregating with the...

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PMID: 29030706
DOI: 10.1007/s00401-017-1774-y

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