POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.
Molecular Genetics & Genomic Medicine
Siraj, Abdul K AK; Bu, Rong R; Iqbal, Kaleem K; Parvathareddy, Sandeep K SK; Masoodi, Tariq T; Siraj, Nabil N; Al-Rasheed, Maha M; Kong, Yan Y; Ahmed, Saeeda O SO; Al-Obaisi, Khadija A S KAS; Victoria, Ingrid G IG; Arshad, Maham M; Al-Dayel, Fouad F; Abduljabbar, Alaa A; Ashari, Luai H LH; Al-Kuraya, Khawla S KS
Publication Date: 2020-08
Variant appearance in text: POLE: 1024C>T; His342Tyr
Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.
Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
Publication Date: 2020-04-07
Variant appearance in text: POLE: 1024C>T; His342Tyr
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR