ATM c.743G>A ;(p.R248Q)

Variant ID: 11-108115595-G-A

NM_000051.3(ATM):c.743G>A;(p.R248Q)

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Identification of Genomic Alterations in Thai Patients With Colorectal Cancer Using Next-Generation Sequencing-Based Multigene Cancer Panel.

Cureus
Jinda, Worapoj W; Moungthard, Hathaiwan H; Limwongse, Chanin C; Pithukpakorn, Manop M; Saelee, Pensri P; Pokkasup, Nareerat N; Khunpukdee, Saipan S; Sukthaworn, Suchitraporn S; Jumpasri, Jaruphan J
Publication Date: 2023-05

Variant appearance in text: ATM: 743G>A; Arg248Gln; rs769166447
PubMed Link: 37323311
Variant Present in the following documents:
  • Main text
  • cureus-0015-00000039067.pdf
View BVdb publication page



Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: ATM: 743G>A; Arg248Gln
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Complex molecular profile of DNA repair genes in epithelial ovarian carcinoma patients with different sensitivity to platinum-based therapy.

Frontiers In Oncology
Seborova, Karolina K; Hlavac, Viktor V; Holy, Petr P; Bjørklund, Sunniva S SS; Fleischer, Thomas T; Rob, Lukas L; Hruda, Martin M; Bouda, Jiri J; Mrhalova, Marcela M; Allah, Mohammad Moufaq Khatar Al Obeed MMKAO; Vodicka, Pavel P; Fiala, Ondrej O; Soucek, Pavel P; Kristensen, Vessela N VN; Vodickova, Ludmila L; Vaclavikova, Radka R
Publication Date: 2022

Variant appearance in text: ATM: R248Q
PubMed Link: 36531044
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: ATM: 743G>A; R248Q
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

American Journal Of Human Genetics
Palles, Claire C; West, Hannah D HD; Chew, Edward E; Galavotti, Sara S; Flensburg, Christoffer C; Grolleman, Judith E JE; Jansen, Erik A M EAM; Curley, Helen H; Chegwidden, Laura L; Arbe-Barnes, Edward H EH; Lander, Nicola N; Truscott, Rebekah R; Pagan, Judith J; Bajel, Ashish A; Sherwood, Kitty K; Martin, Lynn L; Thomas, Huw H; Georgiou, Demetra D; Fostira, Florentia F; Goldberg, Yael Y; Adams, David J DJ; van der Biezen, Simone A M SAM; Christie, Michael M; Clendenning, Mark M; Thomas, Laura E LE; Deltas, Constantinos C; Dimovski, Aleksandar J AJ; Dymerska, Dagmara D; Lubinski, Jan J; Mahmood, Khalid K; van der Post, Rachel S RS; Sanders, Mathijs M; Weitz, Jürgen J; Taylor, Jenny C JC; Turnbull, Clare C; Vreede, Lilian L; van Wezel, Tom T; Whalley, Celina C; Arnedo-Pac, Claudia C; Caravagna, Giulio G; Cross, William W; Chubb, Daniel D; Frangou, Anna A; Gruber, Andreas J AJ; Kinnersley, Ben B; Noyvert, Boris B; Church, David D; Graham, Trevor T; Houlston, Richard R; Lopez-Bigas, Nuria N; Sottoriva, Andrea A; Wedge, David D; , ; , ; , ; Jenkins, Mark A MA; Kuiper, Roland P RP; Roberts, Andrew W AW; Cheadle, Jeremy P JP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; Koelzer, Viktor H VH; Rivas, Andres Dacal AD; Winship, Ingrid M IM; Ponte, Clara Ruiz CR; Buchanan, Daniel D DD; Power, Derek G DG; Green, Andrew A; Tomlinson, Ian P M IPM; Sampson, Julian R JR; Majewski, Ian J IJ; de Voer, Richarda M RM
Publication Date: 2022-05-05

Variant appearance in text: ATM: 743G>A; Arg248Gln
PubMed Link: 35460607
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: ATM: R248Q
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s001.pdf
View BVdb publication page



Repurposing Artemisinin and its Derivatives as Anticancer Drugs: A Chance or Challenge?

Frontiers In Pharmacology
Ma, Zhaowu Z; Woon, Clariis Yi-Ning CY; Liu, Chen-Guang CG; Cheng, Jun-Ting JT; You, Mingliang M; Sethi, Gautam G; Wong, Andrea Li-Ann AL; Ho, Paul Chi-Lui PC; Zhang, Daping D; Ong, Peishi P; Wang, Lingzhi L; Goh, Boon-Cher BC
Publication Date: 2021

Variant appearance in text: ATM: R248Q
PubMed Link: 35035355
Variant Present in the following documents:
  • fphar-12-828856.pdf
View BVdb publication page



Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por
Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A
Publication Date: 2021

Variant appearance in text: ATM: Arg248Gln
PubMed Link: 35002543
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies.

Oncogene
Findlay, Izac J IJ; De Iuliis, Geoffry N GN; Duchatel, Ryan J RJ; Jackson, Evangeline R ER; Vitanza, Nicholas A NA; Cain, Jason E JE; Waszak, Sebastian M SM; Dun, Matthew D MD
Publication Date: 2021-11-10

Variant appearance in text: ATM: R248Q
PubMed Link: 34759345
Variant Present in the following documents:
  • 41388_2021_Article_2102.pdf
View BVdb publication page



Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies.

Oncogene
Findlay, Izac J IJ; De Iuliis, Geoffry N GN; Duchatel, Ryan J RJ; Jackson, Evangeline R ER; Vitanza, Nicholas A NA; Cain, Jason E JE; Waszak, Sebastian M SM; Dun, Matthew D MD
Publication Date: 2022-01

Variant appearance in text: ATM: R248Q
PubMed Link: 34759345
Variant Present in the following documents:
  • 41388_2021_Article_2102.pdf
View BVdb publication page



Development of New Cancer Treatment by Identifying and Focusing the Genetic Mutations or Altered Expression in Gynecologic Cancers.

Genes
Tang, Yun-Hsin YH; Lin, Chiao-Yun CY; Lai, Chyong-Huey CH
Publication Date: 2021-10-09

Variant appearance in text: ATM: R248Q
PubMed Link: 34680987
Variant Present in the following documents:
  • Main text
  • genes-12-01593.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: 743G>A; R248Q
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: ATM: R248Q
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 31
View BVdb publication page



Sensitivity of cells to ATR and CHK1 inhibitors requires hyperactivation of CDK2 rather than endogenous replication stress or ATM dysfunction.

Scientific Reports
Ditano, Jennifer P JP; Donahue, Katelyn L KL; Tafe, Laura J LJ; McCleery, Charlotte F CF; Eastman, Alan A
Publication Date: 2021-03-29

Variant appearance in text: ATM: R248Q
PubMed Link: 33782497
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_86490.pdf
  • 41598_2021_86490_MOESM1_ESM.pdf
  • 41598_2021_86490_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



HIF1A signaling selectively supports proliferation of breast cancer in the brain.

Nature Communications
Ebright, Richard Y RY; Zachariah, Marcus A MA; Micalizzi, Douglas S DS; Wittner, Ben S BS; Niederhoffer, Kira L KL; Nieman, Linda T LT; Chirn, Brian B; Wiley, Devon F DF; Wesley, Benjamin B; Shaw, Brian B; Nieblas-Bedolla, Edwin E; Atlas, Lian L; Szabolcs, Annamaria A; Iafrate, Anthony J AJ; Toner, Mehmet M; Ting, David T DT; Brastianos, Priscilla K PK; Haber, Daniel A DA; Maheswaran, Shyamala S
Publication Date: 2020-12-09

Variant appearance in text: ATM: Arg248Gln
PubMed Link: 33298946
Variant Present in the following documents:
  • 41467_2020_20144_MOESM1_ESM.pdf
View BVdb publication page



LINC00973 Induces Proliferation Arrest of Drug-Treated Cancer Cells by Preventing p21 Degradation.

International Journal Of Molecular Sciences
Karpov, Dmitry S DS; Spirin, Pavel V PV; Zheltukhin, Andrey O AO; Tutyaeva, Vera V VV; Zinovieva, Olga L OL; Grineva, Evgenia N EN; Matrosova, Vera A VA; Krasnov, George S GS; Snezhkina, Anastasiya V AV; Kudryavtseva, Anna V AV; Prassolov, Vladimir S VS; Mashkova, Tamara D TD; Lisitsyn, Nikolai A NA
Publication Date: 2020-11-06

Variant appearance in text: ATM: R248Q
PubMed Link: 33171937
Variant Present in the following documents:
  • Main text
  • ijms-21-08322.pdf
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: ATM: R248Q
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research
Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG
Publication Date: 2020-06

Variant appearance in text: ATM: R248Q; rs769166447
PubMed Link: 32661091
Variant Present in the following documents:
  • supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1
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: 743G>A; R248Q
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes
Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R
Publication Date: 2019-10-10

Variant appearance in text: ATM: 743G>A
PubMed Link: 31658756
Variant Present in the following documents:
  • genes-10-00786.pdf
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: ATM: 743G>A; R248Q
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
View BVdb publication page



Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.

Plos One
Ow, Samuel Guan Wei SGW; Ong, Pei Yi PY; Lee, Soo-Chin SC
Publication Date: 2019

Variant appearance in text: ATM: 743G>A; R248Q
PubMed Link: 30875412
Variant Present in the following documents:
View BVdb publication page



Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: ATM: 743G>A; Arg248Gln; rs769166447
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 5
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page



The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08

Variant appearance in text: ATM: 743G>A; R248Q
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page



Targeting Transcription Factors for Cancer Treatment.

Molecules (Basel, Switzerland)
Lambert, Mélanie M; Jambon, Samy S; Depauw, Sabine S; David-Cordonnier, Marie-Hélène MH
Publication Date: 2018-06-19

Variant appearance in text: ATM: R248Q
PubMed Link: 29921764
Variant Present in the following documents:
  • molecules-23-01479.pdf
View BVdb publication page



Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

The Lancet. Oncology
Waszak, Sebastian M SM; Northcott, Paul A PA; Buchhalter, Ivo I; Robinson, Giles W GW; Sutter, Christian C; Groebner, Susanne S; Grund, Kerstin B KB; Brugières, Laurence L; Jones, David T W DTW; Pajtler, Kristian W KW; Morrissy, A Sorana AS; Kool, Marcel M; Sturm, Dominik D; Chavez, Lukas L; Ernst, Aurelie A; Brabetz, Sebastian S; Hain, Michael M; Zichner, Thomas T; Segura-Wang, Maia M; Weischenfeldt, Joachim J; Rausch, Tobias T; Mardin, Balca R BR; Zhou, Xin X; Baciu, Cristina C; Lawerenz, Christian C; Chan, Jennifer A JA; Varlet, Pascale P; Guerrini-Rousseau, Lea L; Fults, Daniel W DW; Grajkowska, Wiesława W; Hauser, Peter P; Jabado, Nada N; Ra, Young-Shin YS; Zitterbart, Karel K; Shringarpure, Suyash S SS; De La Vega, Francisco M FM; Bustamante, Carlos D CD; Ng, Ho-Keung HK; Perry, Arie A; MacDonald, Tobey J TJ; Hernáiz Driever, Pablo P; Bendel, Anne E AE; Bowers, Daniel C DC; McCowage, Geoffrey G; Chintagumpala, Murali M MM; Cohn, Richard R; Hassall, Timothy T; Fleischhack, Gudrun G; Eggen, Tone T; Wesenberg, Finn F; Feychting, Maria M; Lannering, Birgitta B; Schüz, Joachim J; Johansen, Christoffer C; Andersen, Tina V TV; Röösli, Martin M; Kuehni, Claudia E CE; Grotzer, Michael M; Kjaerheim, Kristina K; Monoranu, Camelia M CM; Archer, Tenley C TC; Duke, Elizabeth E; Pomeroy, Scott L SL; Shelagh, Redmond R; Frank, Stephan S; Sumerauer, David D; Scheurlen, Wolfram W; Ryzhova, Marina V MV; Milde, Till T; Kratz, Christian P CP; Samuel, David D; Zhang, Jinghui J; Solomon, David A DA; Marra, Marco M; Eils, Roland R; Bartram, Claus R CR; von Hoff, Katja K; Rutkowski, Stefan S; Ramaswamy, Vijay V; Gilbertson, Richard J RJ; Korshunov, Andrey A; Taylor, Michael D MD; Lichter, Peter P; Malkin, David D; Gajjar, Amar A; Korbel, Jan O JO; Pfister, Stefan M SM
Publication Date: 2018-06

Variant appearance in text: ATM: 743G>A; Arg248Gln
PubMed Link: 29753700
Variant Present in the following documents:
  • mmc1.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: 743G>A; R248Q
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: ATM: R248Q
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: ATM: 743G>A; R248Q
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The whole-genome landscape of medulloblastoma subtypes.

Nature
Northcott, Paul A PA; Buchhalter, Ivo I; Morrissy, A Sorana AS; Hovestadt, Volker V; Weischenfeldt, Joachim J; Ehrenberger, Tobias T; Gröbner, Susanne S; Segura-Wang, Maia M; Zichner, Thomas T; Rudneva, Vasilisa A VA; Warnatz, Hans-Jörg HJ; Sidiropoulos, Nikos N; Phillips, Aaron H AH; Schumacher, Steven S; Kleinheinz, Kortine K; Waszak, Sebastian M SM; Erkek, Serap S; Jones, David T W DTW; Worst, Barbara C BC; Kool, Marcel M; Zapatka, Marc M; Jäger, Natalie N; Chavez, Lukas L; Hutter, Barbara B; Bieg, Matthias M; Paramasivam, Nagarajan N; Heinold, Michael M; Gu, Zuguang Z; Ishaque, Naveed N; Jäger-Schmidt, Christina C; Imbusch, Charles D CD; Jugold, Alke A; Hübschmann, Daniel D; Risch, Thomas T; Amstislavskiy, Vyacheslav V; Gonzalez, Francisco German Rodriguez FGR; Weber, Ursula D UD; Wolf, Stephan S; Robinson, Giles W GW; Zhou, Xin X; Wu, Gang G; Finkelstein, David D; Liu, Yanling Y; Cavalli, Florence M G FMG; Luu, Betty B; Ramaswamy, Vijay V; Wu, Xiaochong X; Koster, Jan J; Ryzhova, Marina M; Cho, Yoon-Jae YJ; Pomeroy, Scott L SL; Herold-Mende, Christel C; Schuhmann, Martin M; Ebinger, Martin M; Liau, Linda M LM; Mora, Jaume J; McLendon, Roger E RE; Jabado, Nada N; Kumabe, Toshihiro T; Chuah, Eric E; Ma, Yussanne Y; Moore, Richard A RA; Mungall, Andrew J AJ; Mungall, Karen L KL; Thiessen, Nina N; Tse, Kane K; Wong, Tina T; Jones, Steven J M SJM; Witt, Olaf O; Milde, Till T; Von Deimling, Andreas A; Capper, David D; Korshunov, Andrey A; Yaspo, Marie-Laure ML; Kriwacki, Richard R; Gajjar, Amar A; Zhang, Jinghui J; Beroukhim, Rameen R; Fraenkel, Ernest E; Korbel, Jan O JO; Brors, Benedikt B; Schlesner, Matthias M; Eils, Roland R; Marra, Marco A MA; Pfister, Stefan M SM; Taylor, Michael D MD; Lichter, Peter P
Publication Date: 2017-07-19

Variant appearance in text: ATM: R248Q
PubMed Link: 28726821
Variant Present in the following documents:
  • 41586_2017_BFnature22973_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations.

Journal Of Neuro-Oncology
Balendran, S S; Liebmann-Reindl, S S; Berghoff, A S AS; Reischer, T T; Popitsch, N N; Geier, C B CB; Kenner, L L; Birner, P P; Streubel, B B; Preusser, M M
Publication Date: 2017-07

Variant appearance in text: ATM: 743G>A
PubMed Link: 28497333
Variant Present in the following documents:
  • 11060_2017_Article_2459.pdf
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: 743G>A; R248Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: R248Q
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 2
View BVdb publication page



Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics.

Acta Neuropathologica Communications
Hoffman, Lindsey M LM; DeWire, Mariko M; Ryall, Scott S; Buczkowicz, Pawel P; Leach, James J; Miles, Lili L; Ramani, Arun A; Brudno, Michael M; Kumar, Shiva Senthil SS; Drissi, Rachid R; Dexheimer, Phillip P; Salloum, Ralph R; Chow, Lionel L; Hummel, Trent T; Stevenson, Charles C; Lu, Q Richard QR; Jones, Blaise B; Witte, David D; Aronow, Bruce B; Hawkins, Cynthia E CE; Fouladi, Maryam M
Publication Date: 2016-01-04

Variant appearance in text: ATM: R248Q
PubMed Link: 26727948
Variant Present in the following documents:
  • 40478_2015_269_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.

Breast Cancer Research : Bcr
Lips, Esther H EH; Michaut, Magali M; Hoogstraat, Marlous M; Mulder, Lennart L; Besselink, Nicolle J M NJ; Koudijs, Marco J MJ; Cuppen, Edwin E; Voest, Emile E EE; Bernards, Rene R; Nederlof, Petra M PM; Wesseling, Jelle J; Rodenhuis, Sjoerd S; Wessels, Lodewyk F A LF; ,
Publication Date: 2015-10-03

Variant appearance in text: ATM: R248Q
PubMed Link: 26433948
Variant Present in the following documents:
  • 13058_2015_642_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ATM: R248Q
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



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: R248Q
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page