Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: POLE: 3851G>A; Arg1284Gln; rs149462407
TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma.
Acta Neuropathologica
Thomas, Christian C; Thierfelder, Felix F; Träger, Malte M; Soschinski, Patrick P; Müther, Michael M; Edelmann, Dominic D; Förster, Alexandra A; Geiler, Carola C; Kim, Hee-Yeong HY; Filipski, Katharina K; Harter, Patrick N PN; Schittenhelm, Jens J; Eckert, Franziska F; Ntoulias, Georgios G; May, Sven-Axel SA; Stummer, Walter W; Onken, Julia J; Vajkoczy, Peter P; Schüller, Ulrich U; Heppner, Frank L FL; Capper, David D; Koch, Arend A; Kaul, David D; Paulus, Werner W; Hasselblatt, Martin M; Schweizer, Leonille L
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
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13
Variant appearance in text: POLE: 3851G>A; R1284Q; rs149462407
Loss of switch/sucrose non-fermenting complex protein expression is associated with dedifferentiation in endometrial carcinomas.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Karnezis, Anthony N AN; Hoang, Lien N LN; Coatham, Mackenzie M; Ravn, Sarah S; Almadani, Noorah N; Tessier-Cloutier, Basile B; Irving, Julie J; Meng, Bo B; Li, Xiaodong X; Chow, Christine C; McAlpine, Jessica J; Kuo, Kuan-Ting KT; Mao, Tsui-Lien TL; Djordjevic, Bojana B; Soslow, Robert A RA; Huntsman, David G DG; Blake Gilks, C C; Köbel, Martin M; Lee, Cheng-Han CH