The hereditary N363K POLE exonuclease mutant extends PPAP tumor spectrum to glioblastomas by causing DNA damage and aneuploidy in addition to increased mismatch mutagenicity.
Nar Cancer
Labrousse, Guillaume G; Vande Perre, Pierre P; Parra, Genis G; Jaffrelot, Marion M; Leroy, Laura L; Chibon, Frederic F; Escudie, Frederic F; Selves, Janick J; Hoffmann, Jean-Sebastien JS; Guimbaud, Rosine R; Lutzmann, Malik M
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.
Molecular Genetics And Genomics : Mgg
Rocque, Mariève J MJ; Leipart, Vilde V; Kumar Singh, Ashish A; Mur, Pilar P; Olsen, Maren F MF; Engebretsen, Lars F LF; Martin-Ramos, Edgar E; Aligué, Rosa R; Sætrom, Pål P; Valle, Laura L; Drabløs, Finn F; Otterlei, Marit M; Sjursen, Wenche W
EANO guideline on rational molecular testing of gliomas, glioneuronal and neuronal tumors in adults for targeted therapy selection.
Neuro-Oncology
Capper, David D; Reifenberger, Guido G; French, Pim J PJ; Schweizer, Leonille L; Weller, Michael M; Touat, Mehdi M; Niclou, Simone P SP; Euskirchen, Philipp P; Haberler, Christine C; Hegi, Monika E ME; Brandner, Sebastian S; Le Rhun, Emilie E; Rudà, Roberta R; Sanson, Marc M; Tabatabai, Ghazaleh G; Sahm, Felix F; Wen, Patrick Y PY; Wesseling, Pieter P; Preusser, Matthias M; van den Bent, Martin J MJ
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.
Nature Genetics
Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.
Nature Genetics
Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR
Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers.
Journal For Immunotherapy Of Cancer
Ying, Jieer J; Yang, Lin L; Yin, Jiani C JC; Xia, Guojie G; Xing, Minyan M; Chen, Xiaoxi X; Pang, Jiaohui J; Wu, Yong Y; Bao, Hua H; Wu, Xue X; Shao, Yang Y; Zhu, Lingjun L; Cheng, Xiangdong X
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Frontiers In Genetics
Djursby, Malene M; Madsen, Majbritt B MB; Frederiksen, Jane H JH; Berchtold, Lukas A LA; Therkildsen, Christina C; Willemoe, Gro L GL; Hasselby, Jane P JP; Wikman, Friedrik F; Okkels, Henrik H; Skytte, Anne-Bine AB; Nilbert, Mef M; Wadt, Karin K; Gerdes, Anne-Marie AM; van Overeem Hansen, Thomas T
Publication Date: 2020
Variant appearance in text: POLE: 1089C>A; Asn363Lys
POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer.
Endocrine Connections
Siraj, Abdul K AK; Bu, Rong R; Arshad, Maham M; Iqbal, Kaleem K; Parvathareddy, Sandeep Kumar SK; Masoodi, Tariq T; Ghazwani, Laila Omar LO; Al-Sobhi, Saif S SS; Al-Dayel, Fouad F; Al-Kuraya, Khawla S KS
Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.
Cancers
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Piredda, Maria Liliana ML; Caffo, Maria M; Cardali, Salvatore Massimiliano SM; Germanò, Antonino A; Cingarlini, Sara S; Ghimenton, Claudio C; Scarpa, Aldo A
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
American Journal Of Human Genetics
Logan, Clare V CV; Murray, Jennie E JE; Parry, David A DA; Robertson, Andrea A; Bellelli, Roberto R; Tarnauskaitė, Žygimantė Ž; Challis, Rachel R; Cleal, Louise L; Borel, Valerie V; Fluteau, Adeline A; Santoyo-Lopez, Javier J; , ; Aitman, Tim T; Barroso, Inês I; Basel, Donald D; Bicknell, Louise S LS; Goel, Himanshu H; Hu, Hao H; Huff, Chad C; Hutchison, Michele M; Joyce, Caroline C; Knox, Rachel R; Lacroix, Amy E AE; Langlois, Sylvie S; McCandless, Shawn S; McCarrier, Julie J; Metcalfe, Kay A KA; Morrissey, Rose R; Murphy, Nuala N; Netchine, Irène I; O'Connell, Susan M SM; Olney, Ann Haskins AH; Paria, Nandina N; Rosenfeld, Jill A JA; Sherlock, Mark M; Syverson, Erin E; White, Perrin C PC; Wise, Carol C; Yu, Yao Y; Zacharin, Margaret M; Banerjee, Indraneel I; Reijns, Martin M; Bober, Michael B MB; Semple, Robert K RK; Boulton, Simon J SJ; Rios, Jonathan J JJ; Jackson, Andrew P AP
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
Oncotarget
Esteban-Jurado, Clara C; Giménez-Zaragoza, David D; Muñoz, Jenifer J; Franch-Expósito, Sebastià S; Álvarez-Barona, Miriam M; Ocaña, Teresa T; Cuatrecasas, Miriam M; Carballal, Sabela S; López-Cerón, María M; Marti-Solano, Maria M; Díaz-Gay, Marcos M; van Wezel, Tom T; Castells, Antoni A; Bujanda, Luis L; Balmaña, Judith J; Gonzalo, Victoria V; Llort, Gemma G; Ruiz-Ponte, Clara C; Cubiella, Joaquín J; Balaguer, Francesc F; Aligué, Rosa R; Castellví-Bel, Sergi S
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
Familial Cancer
Hansen, Maren F MF; Johansen, Jostein J; Bjørnevoll, Inga I; Sylvander, Anna E AE; Steinsbekk, Kristin S KS; Sætrom, Pål P; Sandvik, Arne K AK; Drabløs, Finn F; Sjursen, Wenche W
Publication Date: 2015-09
Variant appearance in text: POLE: 1089C>A; Asn363Lys