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: RNASEL: 793G>T; E265*; rs74315364
Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
Frontiers In Medicine
Nunziato, Marcella M; Di Maggio, Federica F; Pensabene, Matilde M; Esposito, Maria Valeria MV; Starnone, Flavio F; De Angelis, Carmine C; Calabrese, Alessandra A; D'Aiuto, Massimiliano M; Botti, Gerardo G; De Placido, Sabino S; D'Argenio, Valeria V; Salvatore, Francesco F
Publication Date: 2022
Variant appearance in text: RNASEL: 793G>T; Glu265Ter; rs74315364
Common germline-somatic variant interactions in advanced urothelial cancer.
Nature Communications
Vosoughi, Aram A; Zhang, Tuo T; Shohdy, Kyrillus S KS; Vlachostergios, Panagiotis J PJ; Wilkes, David C DC; Bhinder, Bhavneet B; Tagawa, Scott T ST; Nanus, David M DM; Molina, Ana M AM; Beltran, Himisha H; Sternberg, Cora N CN; Motanagh, Samaneh S; Robinson, Brian D BD; Xiang, Jenny J; Fan, Xiao X; Chung, Wendy K WK; Rubin, Mark A MA; Elemento, Olivier O; Sboner, Andrea A; Mosquera, Juan Miguel JM; Faltas, Bishoy M BM
Workflow for the Implementation of Precision Genomics in Healthcare.
Frontiers In Genetics
Mehandziska, Sanja S; Stajkovska, Aleksandra A; Stavrevska, Margarita M; Jakovleva, Kristina K; Janevska, Marija M; Rosalia, Rodney R; Kungulovski, Ivan I; Mitrev, Zan Z; Kungulovski, Goran G
Publication Date: 2020
Variant appearance in text: RNASEL: 793G>T; Glu265*; rs74315364
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
Publication Date: 2021-05
Variant appearance in text: RNASEL: 793G>T; E265*; rs74315364
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02
Variant appearance in text: RNASEL: 793G>T; Glu265Ter
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: RNASEL: 793G>T; Glu265*; rs74315364
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
Publication Date: 2019-08-30
Variant appearance in text: RNASEL: 793G>T; Glu265Ter; rs74315364
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Bmc Cancer
Shahi, Rajendra Bahadur RB; De Brakeleer, Sylvia S; Caljon, Ben B; Pauwels, Ingrid I; Bonduelle, Maryse M; Joris, Sofie S; Fontaine, Christel C; Vanhoeij, Marian M; Van Dooren, Sonia S; Teugels, Erik E; De Grève, Jacques J
Publication Date: 2019-04-04
Variant appearance in text: RNASEL: 793G>T; Glu265*
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Journal Of Experimental & Clinical Cancer Research : Cr
Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: RNASEL: E265X; rs74315364
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: RNASEL: E265X; rs74315364
Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
Bmc Cancer
Nguyen-Dumont, Tú T; Teo, Zhi L ZL; Hammet, Fleur F; Roberge, Alexis A; Mahmoodi, Maryam M; Tsimiklis, Helen H; Park, Daniel J DJ; Pope, Bernard J BJ; Lonie, Andrew A; Kapuscinski, Miroslav K MK; Mahmood, Khalid K; , ; Goldgar, David E DE; Giles, Graham G GG; Winship, Ingrid I; Hopper, John L JL; Southey, Melissa C MC
Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.
Molecular Cancer
Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA
Publication Date: 2017-07-06
Variant appearance in text: RNASEL: E265X; rs74315364
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: RNASEL: E265X; rs74315364
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Nature
Saleheen, Danish D; Natarajan, Pradeep P; Armean, Irina M IM; Zhao, Wei W; Rasheed, Asif A; Khetarpal, Sumeet A SA; Won, Hong-Hee HH; Karczewski, Konrad J KJ; O'Donnell-Luria, Anne H AH; Samocha, Kaitlin E KE; Weisburd, Benjamin B; Gupta, Namrata N; Zaidi, Mozzam M; Samuel, Maria M; Imran, Atif A; Abbas, Shahid S; Majeed, Faisal F; Ishaq, Madiha M; Akhtar, Saba S; Trindade, Kevin K; Mucksavage, Megan M; Qamar, Nadeem N; Zaman, Khan Shah KS; Yaqoob, Zia Z; Saghir, Tahir T; Rizvi, Syed Nadeem Hasan SNH; Memon, Anis A; Hayyat Mallick, Nadeem N; Ishaq, Mohammad M; Rasheed, Syed Zahed SZ; Memon, Fazal-Ur-Rehman FU; Mahmood, Khalid K; Ahmed, Naveeduddin N; Do, Ron R; Krauss, Ronald M RM; MacArthur, Daniel G DG; Gabriel, Stacey S; Lander, Eric S ES; Daly, Mark J MJ; Frossard, Philippe P; Danesh, John J; Rader, Daniel J DJ; Kathiresan, Sekar S
Publication Date: 2017-04-12
Variant appearance in text: RNASEL: 793G>T; Glu265Ter
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: RNASEL: 793G>T; E265*; rs74315364
The Qatar genome: a population-specific tool for precision medicine in the Middle East.
Human Genome Variation
Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL
Prognostic role of genetic biomarkers in clinical progression of prostate cancer.
Experimental & Molecular Medicine
Alvarez-Cubero, Maria Jesus MJ; Martinez-Gonzalez, Luis Javier LJ; Saiz, Maria M; Carmona-Saez, Pedro P; Alvarez, Juan Carlos JC; Pascual-Geler, Manrique M; Lorente, Jose Antonio JA; Cozar, Jose Manuel JM
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
Publication Date: 2014
Variant appearance in text: RNASEL: E265X; rs74315364
Mutational landscape of candidate genes in familial prostate cancer.
The Prostate
Johnson, Anna M AM; Zuhlke, Kimberly A KA; Plotts, Chris C; McDonnell, Shannon K SK; Middha, Sumit S; Riska, Shaun M SM; Schaid, Daniel J DJ; Thibodeau, Stephen N SN; Douglas, Julie A JA; Cooney, Kathleen A KA
Publication Date: 2014-10
Variant appearance in text: RNASEL: Glu265Ter; rs74315364
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
Journal Of Lipid Research
Singaraja, Roshni R RR; Tietjen, Ian I; Hovingh, G Kees GK; Franchini, Patrick L PL; Radomski, Chris C; Wong, Kenny K; vanHeek, Margaret M; Stylianou, Ioannis M IM; Lin, Linus L; Wang, Liangsu L; Mitnaul, Lyndon L; Hubbard, Brian B; Winther, Michael M; Mattice, Maryanne M; Legendre, Annick A; Sherrington, Robin R; Kastelein, John J JJ; Akinsanya, Karen K; Plump, Andrew A; Hayden, Michael R MR
Publication Date: 2014-08
Variant appearance in text: RNASEL: E265X; rs74315364
Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.
European Urology
Cartwright, Rufus R; Mangera, Altaf A; Tikkinen, Kari A O KA; Rajan, Prabhakar P; Pesonen, Jori J; Kirby, Anna C AC; Thiagamoorthy, Ganesh G; Ambrose, Chris C; Gonzalez-Maffe, Juan J; Bennett, Phillip R PR; Palmer, Tom T; Walley, Andrew A; Järvelin, Marjo-Riitta MR; Khullar, Vik V; Chapple, Chris C
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03
Variant appearance in text: RNASEL: E265X; rs74315364
Genetic variation in RNASEL associated with prostate cancer risk and progression.
Carcinogenesis
Meyer, Mara S MS; Penney, Kathryn L KL; Stark, Jennifer R JR; Schumacher, Fredrick R FR; Sesso, Howard D HD; Loda, Massimo M; Fiorentino, Michelangelo M; Finn, Stephen S; Flavin, Richard J RJ; Kurth, Tobias T; Price, Alkes L AL; Giovannucci, Edward L EL; Fall, Katja K; Stampfer, Meir J MJ; Ma, Jing J; Mucci, Lorelei A LA
Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Beuten, Joke J; Gelfond, Jonathan A L JA; Franke, Jennifer L JL; Shook, Stacey S; Johnson-Pais, Teresa L TL; Thompson, Ian M IM; Leach, Robin J RJ
Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases.
The Prostate
Robbins, Christiane M CM; Hernandez, Wenndy W; Ahaghotu, Chiledum C; Bennett, James J; Hoke, Gerald G; Mason, Terry T; Pettaway, Curtis A CA; Vijayakumar, Srinivasan S; Weinrich, Sally S; Furbert-Harris, Paulette P; Dunston, Georgia G; Powell, Isaac J IJ; Carpten, John D JD; Kittles, Rick A RA
De Marzo, Angelo M AM; Platz, Elizabeth A EA; Sutcliffe, Siobhan S; Xu, Jianfeng J; Grönberg, Henrik H; Drake, Charles G CG; Nakai, Yasutomo Y; Isaacs, William B WB; Nelson, William G WG
Common sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk.
American Journal Of Human Genetics
Xu, Jianfeng J; Zheng, S Lilly SL; Komiya, Akira A; Mychaleckyj, Josyf C JC; Isaacs, Sarah D SD; Chang, Baoli B; Turner, Aubrey R AR; Ewing, Charles M CM; Wiley, Kathleen E KE; Hawkins, Gregory A GA; Bleecker, Eugene R ER; Walsh, Patrick C PC; Meyers, Deborah A DA; Isaacs, William B WB