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: ATM: 6919C>T; Leu2307Phe; rs56009889
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Cancers
Dumont, Martine M; Weber-Lassalle, Nana N; Joly-Beauparlant, Charles C; Ernst, Corinna C; Droit, Arnaud A; Feng, Bing-Jian BJ; Dubois, Stéphane S; Collin-Deschesnes, Annie-Claude AC; Soucy, Penny P; Vallée, Maxime M; Fournier, Frédéric F; Lemaçon, Audrey A; Adank, Muriel A MA; Allen, Jamie J; Altmüller, Janine J; Arnold, Norbert N; Ausems, Margreet G E M MGEM; Berutti, Riccardo R; Bolla, Manjeet K MK; Bull, Shelley S; Carvalho, Sara S; Cornelissen, Sten S; Dufault, Michael R MR; Dunning, Alison M AM; Engel, Christoph C; Gehrig, Andrea A; Geurts-Giele, Willemina R R WRR; Gieger, Christian C; Green, Jessica J; Hackmann, Karl K; Helmy, Mohamed M; Hentschel, Julia J; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Horváth, Judit J; Ikram, M Arfan MA; Kaulfuß, Silke S; Keeman, Renske R; Kuang, Da D; Luccarini, Craig C; Maier, Wolfgang W; Martens, John W M JWM; Niederacher, Dieter D; Nürnberg, Peter P; Ott, Claus-Eric CE; Peters, Annette A; Pharoah, Paul D P PDP; Ramirez, Alfredo A; Ramser, Juliane J; Riedel-Heller, Steffi S; Schmidt, Gunnar G; Shah, Mitul M; Scherer, Martin M; Stäbler, Antje A; Strom, Tim M TM; Sutter, Christian C; Thiele, Holger H; van Asperen, Christi J CJ; van der Kolk, Lizet L; van der Luijt, Rob B RB; Volk, Alexander E AE; Wagner, Michael M; Waisfisz, Quinten Q; Wang, Qin Q; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Genome Of The Netherlands Project, ; Ghs Study Group, ; Devilee, Peter P; Tavtigian, Sean S; Bader, Gary D GD; Meindl, Alfons A; Goldgar, David E DE; Andrulis, Irene L IL; Schmutzler, Rita K RK; Easton, Douglas F DF; Schmidt, Marjanka K MK; Hahnen, Eric E; Simard, Jacques J
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Genome Medicine
Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF
Publication Date: 2022-05-18
Variant appearance in text: ATM: 6919C>T; Leu2307Phe
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Cancer Research Communications
Magistri, Marco M; Happ, Lanie E LE; Ramdial, Jeremy J; Lu, XiaoQing X; Stathias, Vasileios V; Kunkalla, Kranthi K; Agarwal, Nitin N; Jiang, Xiaoyu X; Schürer, Stephan C SC; Dubovy, Sander R SR; Chapman, Jennifer R JR; Vega, Francisco F; Dave, Sandeep S; Lossos, Izidore S IS
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology.
Genome Medicine
Adib, Elio E; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Groha, Stefan S; Akl, Elie W EW; Sholl, Lynette M LM; Michael, Kesi S KS; Awad, Mark M MM; Jӓnne, Pasi A PA; Gusev, Alexander A; Kwiatkowski, David J DJ
Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
Hgg Advances
Loke, Johnny J; Alim, Ishraq I; Yam, Sarah S; Klugman, Susan S; Xia, Li C LC; Gruber, Dorota D; Tegay, David D; LaBella, Andrea A; Onel, Kenan K; Ostrer, Harry H
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02
Variant appearance in text: ATM: 6919C>T; L2307F; rs56009889
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dalmasso, B B; Pastorino, L L; Nathan, V V; Shah, N N NN; Palmer, J M JM; Howlie, M M; Johansson, P A PA; Freedman, N D ND; Carter, B D BD; Beane-Freeman, L L; Hicks, B B; Molven, A A; Helgadottir, H H; Sankar, A A; Tsao, H H; Stratigos, A J AJ; Helsing, P P; Van Doorn, R R; Gruis, N A NA; Visser, M M; Wadt, K A W KAW; Mann, G G; Holland, E A EA; Nagore, E E; Potrony, M M; Puig, S S; Menin, C C; Peris, K K; Fargnoli, M C MC; Calista, D D; Soufir, N N; Harland, M M; Bishop, T T; Kanetsky, P A PA; Elder, D E DE; Andreotti, V V; Vanni, I I; Bruno, W W; Höiom, V V; Tucker, M A MA; Yang, X R XR; Andresen, P A PA; Adams, D J DJ; Landi, M T MT; Hayward, N K NK; Goldstein, A M AM; Ghiorzo, P P; , ; ,
Rare deleterious germline variants and risk of lung cancer.
Npj Precision Oncology
Liu, Yanhong Y; Xia, Jun J; McKay, James J; Tsavachidis, Spiridon S; Xiao, Xiangjun X; Spitz, Margaret R MR; Cheng, Chao C; Byun, Jinyoung J; Hong, Wei W; Li, Yafang Y; Zhu, Dakai D; Song, Zhuoyi Z; Rosenberg, Susan M SM; Scheurer, Michael E ME; Kheradmand, Farrah F; Pikielny, Claudio W CW; Lusk, Christine M CM; Schwartz, Ann G AG; Wistuba, Ignacio I II; Cho, Michael H MH; Silverman, Edwin K EK; Bailey-Wilson, Joan J; Pinney, Susan M SM; Anderson, Marshall M; Kupert, Elena E; Gaba, Colette C; Mandal, Diptasri D; You, Ming M; de Andrade, Mariza M; Yang, Ping P; Liloglou, Triantafillos T; Davies, Michael P A MPA; Lissowska, Jolanta J; Swiatkowska, Beata B; Zaridze, David D; Mukeria, Anush A; Janout, Vladimir V; Holcatova, Ivana I; Mates, Dana D; Stojsic, Jelena J; Scelo, Ghislaine G; Brennan, Paul P; Liu, Geoffrey G; Field, John K JK; Hung, Rayjean J RJ; Christiani, David C DC; Amos, Christopher I CI
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
European Urology Oncology
Karlsson, Questa Q; Brook, Mark N MN; Dadaev, Tokhir T; Wakerell, Sarah S; Saunders, Edward J EJ; Muir, Kenneth K; Neal, David E DE; Giles, Graham G GG; MacInnis, Robert J RJ; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Cannon-Albright, Lisa L; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Huff, Chad C; Li, Donghui D; Yao, Yu Y; Scheet, Paul P; Permuth, Jennifer B JB; Stanford, Janet L JL; Dai, James Y JY; Ostrander, Elaine A EA; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Hoegel, Josef J; Herkommer, Kathleen K; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Rathinakannan, Venkat V; Sipeky, Csilla C; Wiklund, Fredrik F; Grönberg, Henrik H; Aly, Markus M; Isaacs, William B WB; Dickinson, Jo L JL; FitzGerald, Liesel M LM; Chua, Melvin L K MLK; Nguyen-Dumont, Tu T; , ; Schaid, Daniel J DJ; Southey, Melissa C MC; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z
Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk.
Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Esai Selvan, Myvizhi M; Zauderer, Marjorie G MG; Rudin, Charles M CM; Jones, Siân S; Mukherjee, Semanti S; Offit, Kenneth K; Onel, Kenan K; Rennert, Gad G; Velculescu, Victor E VE; Lipkin, Steven M SM; Klein, Robert J RJ; Gümüş, Zeynep H ZH
Publication Date: 2020-12
Variant appearance in text: ATM: Leu2307Phe; rs56009889
Identification of relevant genetic alterations in cancer using topological data analysis.
Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Sprissler, Ryan R; Perkins, Bryce B; Johnstone, Laurel L; Babiker, Hani M HM; Chalasani, Pavani P; Lau, Branden B; Hammer, Michael M; Mahadevan, Daruka D
Protein-altering germline mutations implicate novel genes related to lung cancer development.
Nature Communications
Ji, Xuemei X; Mukherjee, Semanti S; Landi, Maria Teresa MT; Bosse, Yohan Y; Joubert, Philippe P; Zhu, Dakai D; Gorlov, Ivan I; Xiao, Xiangjun X; Han, Younghun Y; Gorlova, Olga O; Hung, Rayjean J RJ; Brhane, Yonathan Y; Carreras-Torres, Robert R; Christiani, David C DC; Caporaso, Neil N; Johansson, Mattias M; Liu, Geoffrey G; Bojesen, Stig E SE; Le Marchand, Loic L; Albanes, Demetrios D; Bickeböller, Heike H; Aldrich, Melinda C MC; Bush, William S WS; Tardon, Adonina A; Rennert, Gad G; Chen, Chu C; Byun, Jinyoung J; Dragnev, Konstantin H KH; Field, John K JK; Kiemeney, Lambertus Fa LF; Lazarus, Philip P; Zienolddiny, Shan S; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Bertazzi, Pier A PA; Pesatori, Angela C AC; Diao, Nancy N; Su, Li L; Song, Lei L; Zhang, Ruyang R; Leighl, Natasha N; Johansen, Jakob S JS; Mellemgaard, Anders A; Saliba, Walid W; Haiman, Christopher C; Wilkens, Lynne L; Fernandez-Somoano, Ana A; Fernandez-Tardon, Guillermo G; Heijden, Erik H F M van der EHFMV; Kim, Jin Hee JH; Davies, Michael P A MPA; Marcus, Michael W MW; Brunnström, Hans H; Manjer, Jonas J; Melander, Olle O; Muller, David C DC; Overvad, Kim K; Trichopoulou, Antonia A; Tumino, Rosario R; Goodman, Gary E GE; Cox, Angela A; Taylor, Fiona F; Woll, Penella P; Wichmann, Erich E; Muley, Thomas T; Risch, Angela A; Rosenberger, Albert A; Grankvist, Kjell K; Johansson, Mikael M; Shepherd, Frances F; Tsao, Ming-Sound MS; Arnold, Susanne M SM; Haura, Eric B EB; Bolca, Ciprian C; Holcatova, Ivana I; Janout, Vladimir V; Kontic, Milica M; Lissowska, Jolanta J; Mukeria, Anush A; Ognjanovic, Simona S; Orlowski, Tadeusz M TM; Scelo, Ghislaine G; Swiatkowska, Beata B; Zaridze, David D; Bakke, Per P; Skaug, Vidar V; Butler, Lesley M LM; Offit, Kenneth K; Srinivasan, Preethi P; Bandlamudi, Chaitanya C; Hellmann, Matthew D MD; Solit, David B DB; Robson, Mark E ME; Rudin, Charles M CM; Stadler, Zsofia K ZK; Taylor, Barry S BS; Berger, Michael F MF; Houlston, Richard R; McLaughlin, John J; Stevens, Victoria V; Nickle, David C DC; Obeidat, Ma'en M; Timens, Wim W; Artigas, María Soler MS; Shete, Sanjay S; Brenner, Hermann H; Chanock, Stephen S; Brennan, Paul P; McKay, James D JD; Amos, Christopher I CI
Publication Date: 2020-05-11
Variant appearance in text: ATM: L2307F; rs56009889
Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer.
Jco Precision Oncology
Bradbury, Angela R AR; Patrick-Miller, Linda L; Egleston, Brian L BL; Maxwell, Kara N KN; DiGiovanni, Laura L; Brower, Jamie J; Fetzer, Dominique D; Bennett Gaieski, Jill J; Brandt, Amanda A; McKenna, Danielle D; Long, Jessica J; Powers, Jacquelyn J; Stopfer, Jill E JE; Nathanson, Katherine L KL; Domchek, Susan M SM
Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.
Journal Of Hematology & Oncology
Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R
Publication Date: 2019-11-19
Variant appearance in text: ATM: L2307F; rs56009889
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
An Analysis of Patients with DNA Repair Pathway Mutations Treated with a PARP Inhibitor.
The Oncologist
Borazanci, Erkut E; Korn, Ronald R; Liang, Winnie S WS; Guarnieri, Carol C; Haag, Susan S; Snyder, Courtney C; Hendrickson, Kristin K; Caldwell, Lana L; Von Hoff, Dan D; Jameson, Gayle G
Oncologist uptake of comprehensive genomic profile guided targeted therapy.
Oncotarget
Nesline, Mary K MK; DePietro, Paul P; Dy, Grace K GK; Early, Amy A; Papanicolau-Sengos, Antonios A; Conroy, Jeffrey M JM; Lenzo, Felicia L FL; Glenn, Sean T ST; Chen, Hongbin H; Grand'Maison, Anne A; Boland, Patrick P; Ernstoff, Marc S MS; Puzanov, Igor I; Edge, Stephen S; Akers, Stacey S; Opyrchal, Mateusz M; Chatta, Gurkamal G; Odunsi, Kunle K; Frederick, Peter P; Lele, Shashikant S; Gardner, Mark M; Morrison, Carl C
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
International Journal Of Cancer
Girard, Elodie E; Eon-Marchais, Séverine S; Olaso, Robert R; Renault, Anne-Laure AL; Damiola, Francesca F; Dondon, Marie-Gabrielle MG; Barjhoux, Laure L; Goidin, Didier D; Meyer, Vincent V; Le Gal, Dorothée D; Beauvallet, Juana J; Mebirouk, Noura N; Lonjou, Christine C; Coignard, Juliette J; Marcou, Morgane M; Cavaciuti, Eve E; Baulard, Céline C; Bihoreau, Marie-Thérèse MT; Cohen-Haguenauer, Odile O; Leroux, Dominique D; Penet, Clotilde C; Fert-Ferrer, Sandra S; Colas, Chrystelle C; Frebourg, Thierry T; Eisinger, François F; Adenis, Claude C; Fajac, Anne A; Gladieff, Laurence L; Tinat, Julie J; Floquet, Anne A; Chiesa, Jean J; Giraud, Sophie S; Mortemousque, Isabelle I; Soubrier, Florent F; Audebert-Bellanger, Séverine S; Limacher, Jean-Marc JM; Lasset, Christine C; Lejeune-Dumoulin, Sophie S; Dreyfus, Hélène H; Bignon, Yves-Jean YJ; Longy, Michel M; Pujol, Pascal P; Venat-Bouvet, Laurence L; Bonadona, Valérie V; Berthet, Pascaline P; Luporsi, Elisabeth E; Maugard, Christine M CM; Noguès, Catherine C; Delnatte, Capucine C; Fricker, Jean-Pierre JP; Gesta, Paul P; Faivre, Laurence L; Lortholary, Alain A; Buecher, Bruno B; Caron, Olivier O; Gauthier-Villars, Marion M; Coupier, Isabelle I; Servant, Nicolas N; Boland, Anne A; Mazoyer, Sylvie S; Deleuze, Jean-François JF; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F
Publication Date: 2019-04-15
Variant appearance in text: ATM: 6919C>T; L2307F; rs56009889
MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design.
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.
Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Leukemia
Tiao, G G; Improgo, M R MR; Kasar, S S; Poh, W W; Kamburov, A A; Landau, D-A DA; Tausch, E E; Taylor-Weiner, A A; Cibulskis, C C; Bahl, S S; Fernandes, S M SM; Hoang, K K; Rheinbay, E E; Kim, H T HT; Bahlo, J J; Robrecht, S S; Fischer, K K; Hallek, M M; Gabriel, S S; Lander, E S ES; Stilgenbauer, S S; Wu, C J CJ; Kiezun, A A; Getz, G G; Brown, J R JR
Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.
Plos One
Stafford, Jaime L JL; Dyson, Gregory G; Levin, Nancy K NK; Chaudhry, Sophia S; Rosati, Rita R; Kalpage, Hasini H; Wernette, Courtney C; Petrucelli, Nancie N; Simon, Michael S MS; Tainsky, Michael A MA
Publication Date: 2017
Variant appearance in text: ATM: 6919C>T; L2307F; rs56009889
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
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: ATM: 6919C>T; L2307F; rs56009889
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE
Publication Date: 2016-05-01
Variant appearance in text: ATM: 6919C>T; Leu2307Phe
Multigene testing of moderate-risk genes: be mindful of the missense.
Journal Of Medical Genetics
Young, E L EL; Feng, B J BJ; Stark, A W AW; Damiola, F F; Durand, G G; Forey, N N; Francy, T C TC; Gammon, A A; Kohlmann, W K WK; Kaphingst, K A KA; McKay-Chopin, S S; Nguyen-Dumont, T T; Oliver, J J; Paquette, A M AM; Pertesi, M M; Robinot, N N; Rosenthal, J S JS; Vallee, M M; Voegele, C C; Hopper, J L JL; Southey, M C MC; Andrulis, I L IL; John, E M EM; Hashibe, M M; Gertz, J J; , ; Le Calvez-Kelm, F F; Lesueur, F F; Goldgar, D E DE; Tavtigian, S V SV
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: ATM: 6919C>T; L2307F; rs56009889
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: ATM: L2307F; rs56009889
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: ATM: L2307F; rs56009889
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
Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.
Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Publication Date: 2013-12-10
Variant appearance in text: ATM: L2307F; rs56009889
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: ATM: L2307F; rs56009889
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
Breast Cancer Research And Treatment
Broeks, Annegien A; Braaf, Linde M LM; Huseinovic, Angelina A; Schmidt, Marjanka K MK; Russell, Nicola S NS; van Leeuwen, Flora E FE; Hogervorst, Frans B L FB; Van 't Veer, Laura J LJ