ATM c.7327C>T ;(p.R2443*)

Variant ID: 11-108200960-C-T

NM_000051.3(ATM):c.7327C>T;(p.R2443*)

This variant was identified in 42 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: 7327C>T; Arg2443Ter; rs121434220
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ATM: 7327C>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: ATM: R2443*; rs121434220
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: ATM: 7327C>T; Arg2443*
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



A single arm phase Ib/II trial of first-line pembrolizumab, trastuzumab and chemotherapy for advanced HER2-positive gastric cancer.

Nature Communications
Lee, Choong-Kun CK; Rha, Sun Young SY; Kim, Hyo Song HS; Jung, Minkyu M; Kang, Beodeul B; Che, Jingmin J; Kwon, Woo Sun WS; Park, Sejung S; Bae, Woo Kyun WK; Koo, Dong-Hoe DH; Shin, Su-Jin SJ; Kim, Hyunki H; Jeung, Hei-Cheul HC; Zang, Dae Young DY; Lee, Sang Kil SK; Nam, Chung Mo CM; Chung, Hyun Cheol HC
Publication Date: 2022-10-12

Variant appearance in text: ATM: R2443X
PubMed Link: 36224176
Variant Present in the following documents:
  • 41467_2022_33267_MOESM1_ESM.pdf
  • 41467_2022_Article_33267.pdf
View BVdb publication page



Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.

Medeniyet Medical Journal
Arslan Ates, Esra E; Turkyilmaz, Ayberk A; Alavanda, Ceren C; Yildirim, Ozlem O; Guney, Ahmet Ilter AI
Publication Date: 2022-06-23

Variant appearance in text: ATM: 7327C>T; Arg2443*
PubMed Link: 35734982
Variant Present in the following documents:
  • medj-37-150.pdf
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: ATM: R2443*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: ATM: 7327C>T; Arg2443Ter; rs121434220
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS3.xlsx, sheet 1
  • LSA-2021-01319_TableS1.xlsx, sheet 1
View BVdb publication page



JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Leukemia
Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A
Publication Date: 2022-06

Variant appearance in text: ATM: 7327C>T; R2443*
PubMed Link: 35411095
Variant Present in the following documents:
  • NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: ATM: 7327C>T; R2443*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



ATM Germline-Mutated Gastroesophageal Junction Adenocarcinomas: Clinical Descriptors, Molecular Characteristics, and Potential Therapeutic Implications.

Journal Of The National Cancer Institute
El Jabbour, Tony T; Misyura, Maksym M; Cowzer, Darren D; Zimmermann, Michal M; Rimkunas, Victoria V; Marra, Antonio A; Derakhshan, Fatemeh F; Selenica, Pier P; Parilla, Megan M; Setton, Jeremy S JS; Ceyhan-Birsoy, Ozge O; Kemel, Yelena Y; Catchings, Amanda A; Ranganathan, Megha M; Ku, Geoffrey Y GY; Janjigian, Yelena Y YY; Zinda, Michael M; Koehler, Maria M; Stadler, Zsofia Z; Shia, Jinru J; Reis-Filho, Jorge S JS; Mandelker, Diana D
Publication Date: 2022-05-09

Variant appearance in text: ATM: 7327C>T; Arg2443*; rs121434220
PubMed Link: 35078243
Variant Present in the following documents:
  • Main text
  • djac024.pdf
  • djac024_supplementary_data.pdf
View BVdb publication page



Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine
Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B
Publication Date: 2021-12

Variant appearance in text: ATM: R2443X
PubMed Link: 34839264
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine
Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B
Publication Date: 2021-11-25

Variant appearance in text: ATM: R2443X
PubMed Link: 34839264
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Genes
Resch, Luise D LD; Hotz, Alrun A; Zimmer, Andreas D AD; Komlosi, Katalin K; Singh, Nina N; Tzschach, Andreas A; Windfuhr-Blum, Marisa M; Juhasz-Boess, Ingolf I; Erbes, Thalia T; Fischer, Judith J; Alter, Svenja S
Publication Date: 2021-09-24

Variant appearance in text: ATM: 7327C>T; Arg2443*; rs121434220
PubMed Link: 34680878
Variant Present in the following documents:
  • Main text
  • genes-12-01483.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: 7327C>T; R2443X; rs121434220
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.

Genes
Toss, Angela A; Tenedini, Elena E; Piombino, Claudia C; Venturelli, Marta M; Marchi, Isabella I; Gasparini, Elisa E; Barbieri, Elena E; Razzaboni, Elisabetta E; Domati, Federica F; Caggia, Federica F; Grandi, Giovanni G; Combi, Francesca F; Tazzioli, Giovanni G; Dominici, Massimo M; Tagliafico, Enrico E; Cortesi, Laura L
Publication Date: 2021-04-21

Variant appearance in text: ATM: 7327C>T
PubMed Link: 33919281
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2021-08

Variant appearance in text: ATM: 7327C>T; R2443*
PubMed Link: 33436325
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ATM: 7327C>T; R2443*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs121434220
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.

Bmc Cancer
Lee, Sun-Young SY; Chae, Dong-Kyu DK; Lee, Sung-Hun SH; Lim, Yohan Y; An, Jahyun J; Chae, Chang Hoon CH; Kim, Byung Chul BC; Bhak, Jong J; Bolser, Dan D; Cho, Dong-Hyu DH
Publication Date: 2020-07-27

Variant appearance in text: ATM: 7327C>T; R2443*
PubMed Link: 32718341
Variant Present in the following documents:
  • 12885_2020_7161_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences
Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR
Publication Date: 2020-07-16

Variant appearance in text: ATM: 7327C>T
PubMed Link: 32708810
Variant Present in the following documents:
  • ijms-21-05036-s001.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ATM: R2443*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: ATM: 7327C>T; R2443*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.

International Journal Of Oncology
Lang, Shona H SH; Swift, Stephanie L SL; White, Heath H; Misso, Kate K; Kleijnen, Jos J; Quek, Ruben G W RGW
Publication Date: 2019-09

Variant appearance in text: ATM: 7327C>T; Arg2443*
PubMed Link: 31322208
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Hutchings, Danielle D; Jiang, Zhengdong Z; Skaro, Michael M; Weiss, Matthew J MJ; Wolfgang, Christopher L CL; Makary, Martin A MA; He, Jin J; Cameron, John L JL; Zheng, Lei L; Klimstra, David S DS; Brand, Randall E RE; Singhi, Aatur D AD; Goggins, Michael M; Klein, Alison P AP; Roberts, Nicholas J NJ; Hruban, Ralph H RH
Publication Date: 2019-12

Variant appearance in text: ATM: Arg2443Ter
PubMed Link: 31285527
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R
Publication Date: 2019-05

Variant appearance in text: ATM: R2443*
PubMed Link: 31011206
Variant Present in the following documents:
  • NIHMS1522524-supplement-Sup_Tables_1_-_2.xlsx, sheet 2
View BVdb publication page



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: ATM: R2443X; rs121434220
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.

The Journal Of Experimental Medicine
Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A
Publication Date: 2018-12-03

Variant appearance in text: ATM: 7327C>T; R2443*
PubMed Link: 30404791
Variant Present in the following documents:
  • JEM_20180570_TableS4.xlsx, sheet 1
View BVdb publication page



A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

Journal Of Clinical Neurology (Seoul, Korea)
Tariq, Huma H; Imran, Rashid R; Naz, Sadaf S
Publication Date: 2018-10

Variant appearance in text: ATM: 7327C>T; Arg2443Ter; rs121434220
PubMed Link: 30198223
Variant Present in the following documents:
  • Main text
  • jcn-14-498.pdf
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: ATM: 7327C>T; R2443*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s022.xlsx, sheet 1
View BVdb publication page



Racial Disparities in the Molecular Landscape of Cancer.

Anticancer Research
Heath, Elisabeth I EI; Lynce, Filipa F; Xiu, Joanne J; Ellerbrock, Angela A; Reddy, Sandeep K SK; Obeid, Elias E; Liu, Stephen V SV; Bollig-Fischer, Aliccia A; Separovic, Duska D; Vanderwalde, Ari A
Publication Date: 2018-04

Variant appearance in text: ATM: R2443X
PubMed Link: 29599344
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Nature
Ma, Xiaotu X; Liu, Yu Y; Liu, Yanling Y; Alexandrov, Ludmil B LB; Edmonson, Michael N MN; Gawad, Charles C; Zhou, Xin X; Li, Yongjin Y; Rusch, Michael C MC; Easton, John J; Huether, Robert R; Gonzalez-Pena, Veronica V; Wilkinson, Mark R MR; Hermida, Leandro C LC; Davis, Sean S; Sioson, Edgar E; Pounds, Stanley S; Cao, Xueyuan X; Ries, Rhonda E RE; Wang, Zhaoming Z; Chen, Xiang X; Dong, Li L; Diskin, Sharon J SJ; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Meltzer, Paul S PS; Lau, Ching C CC; Perlman, Elizabeth J EJ; Maris, John M JM; Meshinchi, Soheil S; Hunger, Stephen P SP; Gerhard, Daniela S DS; Zhang, Jinghui J
Publication Date: 2018-03-15

Variant appearance in text: ATM: R2443*
PubMed Link: 29489755
Variant Present in the following documents:
  • NIHMS939556-supplement-Table_2-7.xlsx, sheet 3
View BVdb publication page



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: ATM: R2443*
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_Article_2688.pdf
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: 7327C>T; Arg2443Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: 7327C>T; R2443*; rs121434220
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ATM: 7327C>T; R2443*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife
Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S
Publication Date: 2016-06-15

Variant appearance in text: ATM: 7327C>T; Arg2443*
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page



Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Hu, Chunling C; Hart, Steven N SN; Bamlet, William R WR; Moore, Raymond M RM; Nandakumar, Kannabiran K; Eckloff, Bruce W BW; Lee, Yean K YK; Petersen, Gloria M GM; McWilliams, Robert R RR; Couch, Fergus J FJ
Publication Date: 2016-01

Variant appearance in text: ATM: 7327C>T; Arg2443X
PubMed Link: 26483394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: ATM: R2443X
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page



Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15

Variant appearance in text: ATM: 7327C>T; R2443*; rs121434220
PubMed Link: 25347344
Variant Present in the following documents:
  • oncotarget-05-10596-s002.xlsx, sheet 4
View BVdb publication page



Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

British Journal Of Cancer
Leongamornlert, D D; Saunders, E E; Dadaev, T T; Tymrakiewicz, M M; Goh, C C; Jugurnauth-Little, S S; Kozarewa, I I; Fenwick, K K; Assiotis, I I; Barrowdale, D D; Govindasami, K K; Guy, M M; Sawyer, E E; Wilkinson, R R; , ; Antoniou, A C AC; Eeles, R R; Kote-Jarai, Z Z
Publication Date: 2014-03-18

Variant appearance in text: ATM: 7327C>T; Arg2443*
PubMed Link: 24556621
Variant Present in the following documents:
  • Main text
View BVdb publication page



Abstracts of the 7th International Workshop on AT, November 1997, Clermont-Ferrand, France.

Disease Markers
Publication Date: 1998-06

Variant appearance in text: ATM: R2443X
PubMed Link: 24339475
Variant Present in the following documents:
  • DM14-01-378018.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: R2443X
PubMed Link: 12697903
Variant Present in the following documents:
  • Main text
View BVdb publication page