A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16
Variant appearance in text: APC: Ser1756=; rs866006
Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).
Journal Of Clinical Laboratory Analysis
Ghadamyari, Faranak F; Heidari, Mohammad Mehdi MM; Zeinali, Sirous S; Khatami, Mehri M; Merat, Shahin S; Bagherian, Hamideh H; Rejali, Leili L; Ghasemi, Farzaneh F
Publication Date: 2021-05
Variant appearance in text: APC: Ser1756Ser; rs866006
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: APC: Ser1756=; rs866006
Preclinical safety studies of human embryonic stem cell-derived retinal pigment epithelial cells for the treatment of age-related macular degeneration.
Stem Cells Translational Medicine
Petrus-Reurer, Sandra S; Kumar, Pankaj P; Padrell Sánchez, Sara S; Aronsson, Monica M; André, Helder H; Bartuma, Hammurabi H; Plaza Reyes, Alvaro A; Nandrot, Emeline F EF; Kvanta, Anders A; Lanner, Fredrik F
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Genetic and transcriptional evolution alters cancer cell line drug response.
Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.
Oncotarget
Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.
Oncology Letters
Yang, Jun J; Liu, Wei Qing WQ; Li, Wen Liang WL; Chen, Cheng C; Zhu, Zhu Z; Hong, Min M; Wang, Zhi Qiang ZQ; Dong, Jian J
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
American Journal Of Human Genetics
Li, Jun J; Woods, Susan L SL; Healey, Sue S; Beesley, Jonathan J; Chen, Xiaoqing X; Lee, Jason S JS; Sivakumaran, Haran H; Wayte, Nicci N; Nones, Katia K; Waterfall, Joshua J JJ; Pearson, John J; Patch, Anne-Marie AM; Senz, Janine J; Ferreira, Manuel A MA; Kaurah, Pardeep P; Mackenzie, Robertson R; Heravi-Moussavi, Alireza A; Hansford, Samantha S; Lannagan, Tamsin R M TRM; Spurdle, Amanda B AB; Simpson, Peter T PT; da Silva, Leonard L; Lakhani, Sunil R SR; Clouston, Andrew D AD; Bettington, Mark M; Grimpen, Florian F; Busuttil, Rita A RA; Di Costanzo, Natasha N; Boussioutas, Alex A; Jeanjean, Marie M; Chong, George G; Fabre, Aurélie A; Olschwang, Sylviane S; Faulkner, Geoffrey J GJ; Bellos, Evangelos E; Coin, Lachlan L; Rioux, Kevin K; Bathe, Oliver F OF; Wen, Xiaogang X; Martin, Hilary C HC; Neklason, Deborah W DW; Davis, Sean R SR; Walker, Robert L RL; Calzone, Kathleen A KA; Avital, Itzhak I; Heller, Theo T; Koh, Christopher C; Pineda, Marbin M; Rudloff, Udo U; Quezado, Martha M; Pichurin, Pavel N PN; Hulick, Peter J PJ; Weissman, Scott M SM; Newlin, Anna A; Rubinstein, Wendy S WS; Sampson, Jone E JE; Hamman, Kelly K; Goldgar, David D; Poplawski, Nicola N; Phillips, Kerry K; Schofield, Lyn L; Armstrong, Jacqueline J; Kiraly-Borri, Cathy C; Suthers, Graeme K GK; Huntsman, David G DG; Foulkes, William D WD; Carneiro, Fatima F; Lindor, Noralane M NM; Edwards, Stacey L SL; French, Juliet D JD; Waddell, Nicola N; Meltzer, Paul S PS; Worthley, Daniel L DL; Schrader, Kasmintan A KA; Chenevix-Trench, Georgia G
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients.
Plos One
Shao, Jiaofang J; Lou, Xiaoyan X; Wang, Jun J; Zhang, Jing J; Chen, Chen C; Hua, Dasong D; Mo, Fan F; Han, Xu X; Zheng, Shu S; Lin, Biaoyang B
Increased variance in germline allele-specific expression of APC associates with colorectal cancer.
Gastroenterology
Curia, Maria Cristina MC; De Iure, Sabrina S; De Lellis, Laura L; Veschi, Serena S; Mammarella, Sandra S; White, Marquitta J MJ; Bartlett, Jacquelaine J; Di Iorio, Angelo A; Amatetti, Cristina C; Lombardo, Marco M; Di Gregorio, Patrizia P; Battista, Pasquale P; Mariani-Costantini, Renato R; Williams, Scott M SM; Cama, Alessandro A
Publication Date: 2012-01
Variant appearance in text: APC: Ser1756Ser; rs866006