ATM c.3925G>A ;(p.A1309T)

Variant ID: 11-108155132-G-A

NM_000051.3(ATM):c.3925G>A;(p.A1309T)

This variant was identified in 58 publications

View GRCh38 version.




Publications:


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: 3925G>A; A1309T; rs149711770
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: ATM: A1309T
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid Neoplasms.

Cancer Research Communications
Shen, Qiujin Q; Feng, Yahui Y; Gong, Xiaowen X; Jia, Yujiao Y; Gao, Qingyan Q; Jiao, Xiaokang X; Qi, Saibing S; Liu, Xueou X; Wei, Hui H; Huang, Bingqing B; Zhao, Ningning N; Song, Xiaoqiang X; Ma, Yueshen Y; Liang, Shihao S; Zhang, Donglei D; Qin, Li L; Wang, Ying Y; Qu, Shiqiang S; Zou, Yao Y; Chen, Yumei Y; Guo, Ye Y; Yi, Shuhua S; An, Gang G; Jiao, Zengtao Z; Zhang, Song S; Li, Linfeng L; Yan, Jun J; Wang, Huijun H; Song, Zhen Z; Mi, Yingchang Y; Qiu, Lugui L; Zhu, Xiaofan X; Wang, Jianxiang J; Xiao, Zhijian Z; Chen, Junren J
Publication Date: 2022-04

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 36873623
Variant Present in the following documents:
  • crc-21-0194-s05.xlsx, sheet 1
View BVdb publication page



Hereditary variants of unknown significance in African American women with breast cancer.

Plos One
McDonald, J Tyson JT; Ricks-Santi, Luisel J LJ
Publication Date: 2022

Variant appearance in text: ATM: A1309T; rs149711770
PubMed Link: 36315513
Variant Present in the following documents:
  • pone.0273835.s001.xlsx, sheet 1
View BVdb publication page



Genetic Profiling of Colorectal Carcinomas of Patients with Primary Sclerosing Cholangitis and Inflammatory Bowel Disease.

Inflammatory Bowel Diseases
de Krijger, Manon M; Carvalho, Beatriz B; Rausch, Christian C; Bolijn, Anne S AS; Delis-van Diemen, Pien M PM; Tijssen, Marianne M; van Engeland, Manon M; Mostafavi, Nahid N; Bogie, Roel M M RMM; Dekker, Evelien E; Masclee, Ad A M AAM; Verheij, Joanne J; Meijer, Gerrit A GA; Ponsioen, Cyriel Y CY
Publication Date: 2022-09-01

Variant appearance in text: ATM: Ala1309Thr
PubMed Link: 35554535
Variant Present in the following documents:
  • izac087_suppl_supplementary_material.pdf
View BVdb publication page



Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene.

Journal Of The Endocrine Society
Miasaki, Fabíola Y FY; Saito, Kelly C KC; Yamamoto, Guilherme L GL; Boguszewski, César L CL; de Carvalho, Gisah A GA; Kimura, Edna T ET; Kopp, Peter A PA
Publication Date: 2022-04-01

Variant appearance in text: rs149711770
PubMed Link: 35284771
Variant Present in the following documents:
  • Main text
  • bvac026.pdf
View BVdb publication page



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; , ; ,
Publication Date: 2021-11

Variant appearance in text: rs149711770
PubMed Link: 34262154
Variant Present in the following documents:
  • Main text
  • 41436_2021_1240_MOESM2_ESM.xlsx, sheet 1
  • 41436_2021_1240_MOESM3_ESM.xlsx, sheet 1
  • 41436_2021_Article_1240.pdf
  • 41436_2021_1240_MOESM1_ESM.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 3925G>A; A1309T; rs149711770
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Frontiers In Oncology
Jin, Rui R; Peng, Ling L; Shou, Jiawei J; Wang, Jin J; Jin, Yin Y; Liang, Fei F; Zhao, Jing J; Wu, Mengmeng M; Li, Qin Q; Zhang, Bin B; Wu, Xiaoying X; Lan, Fen F; Xia, Lixia L; Yan, Junrong J; Shao, Yang Y; Stebbing, Justin J; Shen, Huahao H; Li, Wen W; Xia, Yang Y
Publication Date: 2021

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 34195081
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Publication Date: 2021

Variant appearance in text: ATM: 3925G>A; Ala1309Thr
PubMed Link: 33747920
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 7
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



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: ATM: 3925G>A; Ala1309Thr; rs149711770
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: rs149711770
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s010.xlsx, sheet 1
View BVdb publication page



Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.

Genes
Miasaki, Fabíola Yukiko FY; Fuziwara, Cesar Seigi CS; Carvalho, Gisah Amaral de GA; Kimura, Edna Teruko ET
Publication Date: 2020-11-18

Variant appearance in text: rs149711770
PubMed Link: 33218058
Variant Present in the following documents:
  • Main text
  • genes-11-01364.pdf
View BVdb publication page



Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Haematologica
Tausch, Eugen E; Beck, Philipp P; Schlenk, Richard F RF; Jebaraj, Billy J BJ; Dolnik, Anna A; Yosifov, Deyan Y DY; Hillmen, Peter P; Offner, Fritz F; Janssens, Ann A; Babu, Govind K GK; Grosicki, Sebastian S; Mayer, Jiri J; Panagiotidis, Panagiotis P; McKeown, Astrid A; Gupta, Ira V IV; Skorupa, Alexandra A; Pallaud, Celine C; Bullinger, Lars L; Mertens, Daniel D; Döhner, Hartmut H; Stilgenbauer, Stephan S
Publication Date: 2020-10-01

Variant appearance in text: ATM: A1309T
PubMed Link: 33054084
Variant Present in the following documents:
  • 2019.229161.TAUSCH_SUPPL.pdf
View BVdb publication page



Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One
Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R
Publication Date: 2020

Variant appearance in text: ATM: 3925G>A; rs149711770
PubMed Link: 32639993
Variant Present in the following documents:
  • pone.0235766.s008.xlsx, sheet 5
  • pone.0235766.s008.xlsx, sheet 3
View BVdb publication page



TRF2 and VEGF-A: an unknown relationship with prognostic impact on survival of colorectal cancer patients.

Journal Of Experimental & Clinical Cancer Research : Cr
Dinami, Roberto R; Porru, Manuela M; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Mottolese, Marcella M; Buglioni, Simonetta S; Marinelli, Daniele D; Maugeri-Saccà, Marcello M; Sacconi, Andrea A; Blandino, Giovanni G; Leonetti, Carlo C; Di Rocco, Giuliana G; Verdina, Alessandra A; Spinella, Francesca F; Fiorentino, Francesco F; Ciliberto, Gennaro G; Biroccio, Annamaria A; Zizza, Pasquale P
Publication Date: 2020-06-15

Variant appearance in text: ATM: A1309T
PubMed Link: 32539869
Variant Present in the following documents:
  • 13046_2020_1612_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: ATM: 3925G>A; A1309T; rs149711770
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM8_ESM.xls, sheet 1
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: ATM: Ala1309Thr
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences
Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ
Publication Date: 2019

Variant appearance in text: ATM: Ala1309Thr
PubMed Link: 31681791
Variant Present in the following documents:
  • Data_Sheet_5.pdf
View BVdb publication page



DNA sequencing of cytopathologically inconclusive EUS-FNA from solid pancreatic lesions suspicious for malignancy confirms EUS diagnosis.

Endoscopic Ultrasound
Plougmann, Julie Isabelle JI; Klausen, Pia P; Toxvaerd, Anders A; Abedi, Armita Armina AA; Kovacevic, Bojan B; Karstensen, John Gásdal JG; Poulsen, Tim Svenstrup TS; Kalaitzakis, Evangelos E; Høgdall, Estrid E; Vilmann, Peter P
Publication Date: 2020

Variant appearance in text: ATM: A1309T
PubMed Link: 31552911
Variant Present in the following documents:
  • Main text
  • EUS-9-37.pdf
View BVdb publication page



Identification of Rare Variants Predisposing to Thyroid Cancer.

Thyroid : Official Journal Of The American Thyroid Association
Wang, Yanqiang Y; Liyanarachchi, Sandya S; Miller, Katherine E KE; Nieminen, Taina T TT; Comiskey, Daniel F DF; Li, Wei W; Brock, Pamela P; Symer, David E DE; Akagi, Keiko K; DeLap, Katherine E KE; He, Huiling H; Koboldt, Daniel C DC; de la Chapelle, Albert A
Publication Date: 2019-07

Variant appearance in text: ATM: Ala1309Thr; rs149711770
PubMed Link: 30957677
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 1
  • Table_2.xls, sheet 2
View BVdb publication page



Prognostic impact of ATM mutations in patients with metastatic colorectal cancer.

Scientific Reports
Randon, Giovanni G; Fucà, Giovanni G; Rossini, Daniele D; Raimondi, Alessandra A; Pagani, Filippo F; Perrone, Federica F; Tamborini, Elena E; Busico, Adele A; Peverelli, Giorgia G; Morano, Federica F; Niger, Monica M; Antista, Maria M; Corallo, Salvatore S; Saggio, Serena S; Borelli, Beatrice B; Zucchelli, Gemma G; Milione, Massimo M; Pruneri, Giancarlo G; Di Bartolomeo, Maria M; Falcone, Alfredo A; de Braud, Filippo F; Cremolini, Chiara C; Pietrantonio, Filippo F
Publication Date: 2019-02-27

Variant appearance in text: ATM: A1309T
PubMed Link: 30814645
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_39525.pdf
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: ATM: A1309T
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 3925G>A; A1309T; rs149711770
PubMed Link: 30303537
Variant Present in the following documents:
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: ATM: 3925G>A; Ala1309Thr; rs149711770
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology
Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH
Publication Date: 2018-07-31

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2018-12-15

Variant appearance in text: ATM: 3925G>A; Ala1309Thr; rs149711770
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 3
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: ATM: A1309T
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology
Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M
Publication Date: 2018-06-01

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: ATM: 3925G>A; Ala1309Thr; rs149711770
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 4
View BVdb publication page



Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Hereditary Cancer In Clinical Practice
Dominguez-Valentin, Mev M; Evans, D Gareth R DGR; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018

Variant appearance in text: ATM: Ala1309Thr
PubMed Link: 29371908
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: ATM: 3925G>A; A1309T; rs149711770
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology
Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH
Publication Date: 2018-02

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ATM: 3925G>A; Ala1309Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Next generation sequencing of the nidus of early (adenosquamous proliferation rich) radial sclerosing lesions of the breast reveals evidence for a neoplastic precursor lesion.

The Journal Of Pathology. Clinical Research
Wilsher, Mark J MJ; Owens, Thomas W TW; Allcock, Richard Jn RJ
Publication Date: 2017-04

Variant appearance in text: ATM: Ala1309Thr
PubMed Link: 28451460
Variant Present in the following documents:
  • CJP2-3-115.pdf
View BVdb publication page



Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports
Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V
Publication Date: 2017-03-03

Variant appearance in text: ATM: A1309T
PubMed Link: 28256603
Variant Present in the following documents:
  • srep42980-s2.xls, sheet 7
  • srep42980-s2.xls, sheet 9
View BVdb publication page



Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Plos Medicine
Hamblin, Angela A; Wordsworth, Sarah S; Fermont, Jilles M JM; Page, Suzanne S; Kaur, Kulvinder K; Camps, Carme C; Kaisaki, Pamela P; Gupta, Avinash A; Talbot, Denis D; Middleton, Mark M; Henderson, Shirley S; Cutts, Anthony A; Vavoulis, Dimitrios V DV; Housby, Nick N; Tomlinson, Ian I; Taylor, Jenny C JC; Schuh, Anna A
Publication Date: 2017-02

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 28196074
Variant Present in the following documents:
  • pmed.1002230.s004.xlsx, sheet 2
View BVdb publication page



Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Balmaña, Judith J; Digiovanni, Laura L; Gaddam, Pragna P; Walsh, Michael F MF; Joseph, Vijai V; Stadler, Zsofia K ZK; Nathanson, Katherine L KL; Garber, Judy E JE; Couch, Fergus J FJ; Offit, Kenneth K; Robson, Mark E ME; Domchek, Susan M SM
Publication Date: 2016-12

Variant appearance in text: ATM: Ala1309Thr
PubMed Link: 27621404
Variant Present in the following documents:
  • JCO.2016.68.4316.pdf
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: ATM: 3925G>A; Ala1309Thr; rs149711770
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



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: 3925G>A; A1309T; rs149711770
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: 3925G>A; Ala1309Thr
PubMed Link: 26976419
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One
de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP
Publication Date: 2016

Variant appearance in text: ATM: A1309T
PubMed Link: 26919633
Variant Present in the following documents:
  • pone.0149405.s010.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2016-06

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 26787654
Variant Present in the following documents:
  • jmedgenet-2015-103398-s2.pdf
View BVdb publication page



Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-12-22

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 26527317
Variant Present in the following documents:
  • oncotarget-06-43731-s002.xlsx, sheet 1
View BVdb publication page



Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Publication Date: 2015-09-22

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s003.xls, sheet 1
View BVdb publication page



Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-09-15

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 26009992
Variant Present in the following documents:
  • oncotarget-06-24499-s002.xlsx, sheet 1
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: ATM: 3925G>A; Ala1309Thr; rs149711770
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page



High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Publication Date: 2014

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 25372287
Variant Present in the following documents:
  • pone.0111693.s003.xls, sheet 1
View BVdb publication page



Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

The Journal Of Investigative Dermatology
Siroy, Alan E AE; Boland, Genevieve M GM; Milton, Denái R DR; Roszik, Jason J; Frankian, Silva S; Malke, Jared J; Haydu, Lauren L; Prieto, Victor G VG; Tetzlaff, Michael M; Ivan, Doina D; Wang, Wei-Lien WL; Torres-Cabala, Carlos C; Curry, Jonathan J; Roy-Chowdhuri, Sinchita S; Broaddus, Russell R; Rashid, Asif A; Stewart, John J; Gershenwald, Jeffrey E JE; Amaria, Rodabe N RN; Patel, Sapna P SP; Papadopoulos, Nicholas E NE; Bedikian, Agop A; Hwu, Wen-Jen WJ; Hwu, Patrick P; Diab, Adi A; Woodman, Scott E SE; Aldape, Kenneth D KD; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Shaw, Kenna R KR; Mills, Gordon B GB; Mendelsohn, John J; Meric-Bernstam, Funda F; Kim, Kevin B KB; Routbort, Mark J MJ; Lazar, Alexander J AJ; Davies, Michael A MA
Publication Date: 2015-02

Variant appearance in text: ATM: 3925G>A; A1309T
PubMed Link: 25148578
Variant Present in the following documents:
  • NIHMS622327-supplement-supplement_1.pdf
View BVdb publication page



Molecular characterization of patient-derived human pancreatic tumor xenograft models for preclinical and translational development of cancer therapeutics.

Neoplasia (New York, N.Y.)
Mattie, Mike M; Christensen, Ashley A; Chang, Mi Sook MS; Yeh, William W; Said, Suzanne S; Shostak, Yuriy Y; Capo, Linnette L; Verlinsky, Alla A; An, Zili Z; Joseph, Ingrid I; Zhang, Yi Y; Kumar-Ganesan, Sathish S; Morrison, Karen K; Stover, David D; Challita-Eid, Pia P
Publication Date: 2013-10

Variant appearance in text: ATM: A1309T
PubMed Link: 24204193
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: A1309T; rs149711770
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: ATM: A1309T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



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
Publication Date: 2008-01

Variant appearance in text: ATM: A1309T
PubMed Link: 17393301
Variant Present in the following documents:
  • Main text
  • 10549_2007_Article_9543.pdf
View BVdb publication page



Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fang, Nicole Y NY; Greiner, Timothy C TC; Weisenburger, Dennis D DD; Chan, Wing C WC; Vose, Julie M JM; Smith, Lynette M LM; Armitage, James O JO; Mayer, R Aeryn RA; Pike, Brian L BL; Collins, Francis S FS; Hacia, Joseph G JG
Publication Date: 2003-04-29

Variant appearance in text: ATM: A1309T
PubMed Link: 12697903
Variant Present in the following documents:
  • Main text
View BVdb publication page