ATM c.1229T>C ;(p.V410A)

Variant ID: 11-108119823-T-C

NM_000051.3(ATM):c.1229T>C;(p.V410A)

This variant was identified in 83 publications

View GRCh38 version.




Publications:


Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.

Scientific Reports
Quinn, Leonard M LM; Haldenby, Sam S; Antzcak, Philip P; Fowler, Anna A; Bullock, Katie K; Kenny, John J; Gilbert, Timothy T; Andrews, Timothy T; Diaz-Nieto, Rafael R; Fenwick, Stephen S; Jones, Robert R; Costello-Goldring, Eithne E; Poston, Graeme G; Greenhalf, William W; Palmer, Daniel D; Malik, Hassan H; Goldring, Chris C
Publication Date: 2023-04-24

Variant appearance in text: ATM: 1229T>C; Val410Ala
PubMed Link: 37095160
Variant Present in the following documents:
  • 41598_2023_33096_MOESM2_ESM.pdf
View BVdb publication page



Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications
Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J
Publication Date: 2022-10

Variant appearance in text: ATM: 1229T>C; V410A
PubMed Link: 36969747
Variant Present in the following documents:
  • crc-22-0258-s08.xlsx, sheet 1
View BVdb publication page



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: 1229T>C; V410A; rs56128736
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of 20 cholangiocarcinoma cases reveals unique profiles in patients with cirrhosis and primary sclerosing cholangitis.

Journal Of Gastrointestinal Oncology
Holzapfel, Nicholas N; Zhang, Amy A; Choi, Woo-Jin WJ; Denroche, Robert R; Jang, Gunho G; Dodd, Anna A; Bucur, Roxana R; Wilson, Julie J; Sapisochin, Gonzalo G; Notta, Faiyaz F; Grant, Robert C RC; Gallinger, Steven S; Knox, Jennifer J JJ; O'Kane, Grainne M GM
Publication Date: 2023-02-28

Variant appearance in text: ATM: V410A; rs56128736
PubMed Link: 36915452
Variant Present in the following documents:
  • jgo-14-01-379-supplementary.pdf
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: V410A
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Molecular Basis and Rationale for the Use of Targeted Agents and Immunotherapy in Sinonasal Cancers.

Journal Of Clinical Medicine
Esposito, Andrea A; Stucchi, Erika E; Baronchelli, Maria M; Di Mauro, Pierluigi P; Ferrari, Marco M; Lorini, Luigi L; Gurizzan, Cristina C; London, Nyall Robert Jr NRJ; Hermsen, Mario M; Lechner, Matt M; Bossi, Paolo P
Publication Date: 2022-11-16

Variant appearance in text: ATM: V410A
PubMed Link: 36431263
Variant Present in the following documents:
  • Main text
  • jcm-11-06787.pdf
View BVdb publication page



Dental DNA as an Indicator of Post-Mortem Interval (PMI): A Pilot Research.

International Journal Of Molecular Sciences
Bianchi, Ilenia I; Grassi, Simone S; Castiglione, Francesca F; Bartoli, Caterina C; De Saint Pierre, Bianca B; Focardi, Martina M; Oliva, Antonio A; Pinchi, Vilma V
Publication Date: 2022-10-25

Variant appearance in text: ATM: 1229T>C
PubMed Link: 36361687
Variant Present in the following documents:
  • ijms-23-12896.pdf
View BVdb publication page



MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.

Frontiers In Immunology
Gelzo, Monica M; Castaldo, Alice A; Giannattasio, Antonietta A; Scalia, Giulia G; Raia, Maddalena M; Esposito, Maria Valeria MV; Maglione, Marco M; Muzzica, Stefania S; D'Anna, Carolina C; Grieco, Michela M; Tipo, Vincenzo V; La Cava, Antonio A; Castaldo, Giuseppe G
Publication Date: 2022

Variant appearance in text: ATM: 1229T>C; Val410Ala
PubMed Link: 36263058
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



MonoMAC syndrome with GATA2 novel mutation: A case report.

Leukemia Research Reports
Belohlavkova, Petra P; Hrochova, Katerina K; Fatorova, Ilona I; Zak, Pavel P
Publication Date: 2022

Variant appearance in text: ATM: 1229T>C; Val410Ala
PubMed Link: 36119727
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Latest Contributions of Genomics to T-Cell Acute Lymphoblastic Leukemia (T-ALL).

Cancers
Genescà, Eulàlia E; González-Gil, Celia C
Publication Date: 2022-05-17

Variant appearance in text: ATM: V410A
PubMed Link: 35626077
Variant Present in the following documents:
  • cancers-14-02474.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: ATM: 1229T>C; V410A; rs56128736
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The repertoire of germline variants in patients with early-onset rectal cancer.

Cancer Communications (London, England)
Beltrami, Caroline Moraes CM; do Canto, Luisa Matos LM; Villacis, Rolando André Rios RAR; Petersen, Annabeth Høgh AH; Aagaard, Mads Malik MM; Cury, Sarah Santiloni SS; Formiga, Maria Nirvana da Cruz MNDC; Junior, Samuel Aguiar SA; Rogatto, Silvia Regina SR
Publication Date: 2022-05

Variant appearance in text: ATM: 1229T>C; Val410Ala; rs56128736
PubMed Link: 35029067
Variant Present in the following documents:
  • Main text
  • CAC2-42-481-s003.xlsx, sheet 3
  • CAC2-42-481.pdf
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: ATM: 1229T>C; V410A; rs56128736
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s006.xlsx, sheet 1
  • ct9-12-e00431-s005.xlsx, sheet 1
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: rs56128736
PubMed Link: 34262154
Variant Present in the following documents:
  • Main text
  • 41436_2021_1240_MOESM3_ESM.xlsx, sheet 1
  • 41436_2021_1240_MOESM2_ESM.xlsx, sheet 1
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: 1229T>C; Val410Ala; rs56128736
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: 1229T>C; Val410Ala
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: 1229T>C; V410A
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: 1229T>C; Val410Ala; rs56128736
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: ATM: 1229T>C; V410A
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
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: 1229T>C; V410A
PubMed Link: 33436325
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Cancer Science
Yoshida, Reiko R; Hagio, Taichi T; Kaneyasu, Tomoko T; Gotoh, Osamu O; Osako, Tomo T; Tanaka, Norio N; Amino, Sayuri S; Yaguchi, Noriko N; Nakashima, Eri E; Kitagawa, Dai D; Ueno, Takayuki T; Ohno, Shinji S; Nakajima, Takeshi T; Nakamura, Seigo S; Miki, Yoshio Y; Hirota, Toru T; Takahashi, Shunji S; Matsuura, Masaaki M; Noda, Tetsuo T; Mori, Seiichi S
Publication Date: 2021-03

Variant appearance in text: ATM: V410A
PubMed Link: 33421217
Variant Present in the following documents:
  • CAS-112-1310-s003.xlsx, sheet 1
View BVdb publication page



The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: ATM: V410A
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_1.xlsx, sheet 6
View BVdb publication page



Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One
Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND
Publication Date: 2020

Variant appearance in text: ATM: V410A
PubMed Link: 32866190
Variant Present in the following documents:
  • pone.0238295.s002.xlsx, sheet 1
View BVdb publication page



Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Cancers
Fanale, Daniele D; Incorvaia, Lorena L; Filorizzo, Clarissa C; Bono, Marco M; Fiorino, Alessia A; Calò, Valentina V; Brando, Chiara C; Corsini, Lidia Rita LR; Barraco, Nadia N; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020-08-25

Variant appearance in text: ATM: 1229T>C; Val410Ala
PubMed Link: 32854451
Variant Present in the following documents:
  • Main text
  • cancers-12-02415.pdf
View BVdb publication page



A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Journal Of Translational Medicine
Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M
Publication Date: 2020-06-10

Variant appearance in text: ATM: 1229T>C; Val410Ala
PubMed Link: 32522261
Variant Present in the following documents:
  • 12967_2020_2391_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A Case of Therapy-Related Acute Myeloid Leukemia in a Patient With Heterozygous Mutations in the Ataxia Telangiectasia Mutated Gene.

Journal Of Hematology
Shieh, Andrew A; Mohamed, Ali A AA
Publication Date: 2017-10

Variant appearance in text: ATM: 1229T>C; Val410Ala
PubMed Link: 32300401
Variant Present in the following documents:
  • Main text
  • jh-06-096.pdf
View BVdb publication page



Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Breast Cancer Research : Bcr
Van Marcke, Cédric C; Helaers, Raphaël R; De Leener, Anne A; Merhi, Ahmad A; Schoonjans, Céline A CA; Ambroise, Jérôme J; Galant, Christine C; Delrée, Paul P; Rothé, Françoise F; Bar, Isabelle I; Khoury, Elsa E; Brouillard, Pascal P; Canon, Jean-Luc JL; Vuylsteke, Peter P; Machiels, Jean-Pascal JP; Berlière, Martine M; Limaye, Nisha N; Vikkula, Miikka M; Duhoux, François P FP
Publication Date: 2020-04-15

Variant appearance in text: ATM: 1229T>C; Val410Ala
PubMed Link: 32295625
Variant Present in the following documents:
  • 13058_2020_1273_MOESM1_ESM.xlsx, sheet 2
  • 13058_2020_1273_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial.

Leukemia
Blakemore, Stuart J SJ; Clifford, Ruth R; Parker, Helen H; Antoniou, Pavlos P; Stec-Dziedzic, Ewa E; Larrayoz, Marta M; Davis, Zadie Z; Kadalyayil, Latha L; Colins, Andrew A; Robbe, Pauline P; Vavoulis, Dimitris D; Forster, Jade J; Carr, Louise L; Morilla, Ricardo R; Else, Monica M; Bryant, Dean D; McCarthy, Helen H; Walewska, Renata J RJ; Steele, Andrew J AJ; Chan, Jacqueline J; Speight, Graham G; Stankovic, Tanja T; Cragg, Mark S MS; Catovsky, Daniel D; Oscier, David G DG; Rose-Zerilli, Matthew J J MJJ; Schuh, Anna A; Strefford, Jonathan C JC
Publication Date: 2020-07

Variant appearance in text: ATM: V410A; rs56128736
PubMed Link: 32015491
Variant Present in the following documents:
  • 41375_2020_723_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: ATM: 1229T>C; V410A; rs56128736
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
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: 1229T>C; V410A
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Scientific Reports
Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P
Publication Date: 2019-11-19

Variant appearance in text: ATM: 1229T>C; V410A
PubMed Link: 31745173
Variant Present in the following documents:
  • 41598_2019_53636_MOESM2_ESM.xlsx, sheet 2
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: Val410Ala
PubMed Link: 31681791
Variant Present in the following documents:
  • Data_Sheet_5.pdf
View BVdb publication page



Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton.

Oncology Letters
Taher, Mohiuddin M MM; Hassan, Amal Ali AA; Saeed, Muhammad M; Jastania, Raid A RA; Nageeti, Tahani H TH; Alkhalidi, Hisham H; Dairi, Ghida G; Abduljaleel, Zainularifeen Z; Athar, Mohammad M; Bouazzaoui, Abdellatif A; El-Bjeirami, Wafa M WM; Al-Allaf, Faisal A FA
Publication Date: 2019-11

Variant appearance in text: ATM: Val410Ala
PubMed Link: 31612017
Variant Present in the following documents:
  • Main text
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: ATM: 1229T>C; V410A
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One
Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND
Publication Date: 2019

Variant appearance in text: ATM: 1229T>C; V410A
PubMed Link: 31415627
Variant Present in the following documents:
  • Main text
  • pone.0220929.pdf
View BVdb publication page



A Three-dimensional Ex Vivo Viability Assay Reveals a Strong Correlation Between Response to Targeted Inhibitors and Mutation Status in Melanoma Lymph Node Metastases.

Translational Oncology
Flørenes, Vivi Ann VA; Flem-Karlsen, Karine K; McFadden, Erin E; Bergheim, Inger Riise IR; Nygaard, Vigdis V; Nygård, Vegard V; Farstad, Inger Nina IN; Øy, Geir Frode GF; Emilsen, Elisabeth E; Giller-Fleten, Karianne K; Ree, Anne Hansen AH; Flatmark, Kjersti K; Gullestad, Hans Petter HP; Hermann, Robert R; Ryder, Truls T; Wernhoff, Patrik P; Mælandsmo, Gunhild Mari GM
Publication Date: 2019-07

Variant appearance in text: ATM: V410A; rs56128736
PubMed Link: 31096111
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd
Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG
Publication Date: 2019-07

Variant appearance in text: ATM: 1229T>C; Val410Ala
PubMed Link: 31028937
Variant Present in the following documents:
  • Main text
  • mmc1.xlsx, sheet 1
  • main.pdf
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: V410A
PubMed Link: 30814645
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_39525.pdf
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: ATM: V410A
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 2
View BVdb publication page



Influence of TP53 Mutation on Survival in Patients With Advanced EGFR-Mutant Non-Small-Cell Lung Cancer.

Jco Precision Oncology
Aggarwal, Charu C; Davis, Christiana W CW; Mick, Rosemarie R; Thompson, Jeffrey C JC; Ahmed, Saman S; Jeffries, Seth S; Bagley, Stephen S; Gabriel, Peter P; Evans, Tracey L TL; Bauml, Joshua M JM; Ciunci, Christine C; Alley, Evan E; Morrissette, Jennifer J D JJD; Cohen, Roger B RB; Carpenter, Erica L EL; Langer, Corey J CJ
Publication Date: 2018

Variant appearance in text: ATM: V410A
PubMed Link: 30766968
Variant Present in the following documents:
  • Main text
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: V410A
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
  • 13058_2019_1102_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Cancers
Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M
Publication Date: 2018-11-14

Variant appearance in text: ATM: 1229T>C; Val410Ala; rs56128736
PubMed Link: 30441849
Variant Present in the following documents:
  • cancers-10-00442-s001.pdf
View BVdb publication page



Identification of therapeutic targets in chordoma through comprehensive genomic and transcriptomic analyses.

Cold Spring Harbor Molecular Case Studies
Liang, Winnie S WS; Dardis, Christopher C; Helland, Adrienne A; Sekar, Shobana S; Adkins, Jonathan J; Cuyugan, Lori L; Enriquez, Daniel D; Byron, Sara S; Little, Andrew S AS
Publication Date: 2018-12

Variant appearance in text: ATM: 1229T>C; V410A; rs56128736
PubMed Link: 30322893
Variant Present in the following documents:
  • Main text
  • MCS003418Lia.pdf
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: 1229T>C; V410A
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Randomized, Double-Blind, Phase II Study of Temozolomide in Combination With Either Veliparib or Placebo in Patients With Relapsed-Sensitive or Refractory Small-Cell Lung Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pietanza, M Catherine MC; Waqar, Saiama N SN; Krug, Lee M LM; Dowlati, Afshin A; Hann, Christine L CL; Chiappori, Alberto A; Owonikoko, Taofeek K TK; Woo, Kaitlin M KM; Cardnell, Robert J RJ; Fujimoto, Junya J; Long, Lihong L; Diao, Lixia L; Wang, Jing J; Bensman, Yevgeniva Y; Hurtado, Brenda B; de Groot, Patricia P; Sulman, Erik P EP; Wistuba, Ignacio I II; Chen, Alice A; Fleisher, Martin M; Heymach, John V JV; Kris, Mark G MG; Rudin, Charles M CM; Byers, Lauren Averett LA
Publication Date: 2018-08-10

Variant appearance in text: ATM: V410A
PubMed Link: 29906251
Variant Present in the following documents:
  • JCO.2018.77.7672.pdf
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: 1229T>C; V410A
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



KRAS mutation is predictive of outcome in patients with pulmonary sarcomatoid carcinoma.

Histopathology
Mehrad, Mitra M; Roy, Somak S; LaFramboise, William A WA; Petrosko, Patti P; Miller, Caitlyn C; Incharoen, Pimpin P; Dacic, Sanja S
Publication Date: 2018-08

Variant appearance in text: ATM: V410A
PubMed Link: 29489023
Variant Present in the following documents:
  • Main text
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: V410A; rs56128736
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_Article_2688.pdf
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
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: 1229T>C; V410A
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine
Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F
Publication Date: 2017-10-30

Variant appearance in text: ATM: 1229T>C; V410A
PubMed Link: 29082853
Variant Present in the following documents:
  • 13073_2017_478_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: rs56128736
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp007.pdf
  • jmedgenet-2017-104588supp005.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: 1229T>C; Val410Ala
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: 1229T>C; V410A
PubMed Link: 28196074
Variant Present in the following documents:
  • pmed.1002230.s004.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: 1229T>C; V410A; rs56128736
PubMed Link: 27460824
Variant Present in the following documents:
  • 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: 1229T>C; V410A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Subsets of salivary duct carcinoma defined by morphologic evidence of pleomorphic adenoma, PLAG1 or HMGA2 rearrangements, and common genetic alterations.

Cancer
Chiosea, Simion I SI; Thompson, Lester D R LD; Weinreb, Ilan I; Bauman, Julie E JE; Mahaffey, Alyssa M AM; Miller, Caitlyn C; Ferris, Robert L RL; Gooding, William E WE
Publication Date: 2016-10-15

Variant appearance in text: ATM: V410A
PubMed Link: 27379604
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine
Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM
Publication Date: 2016-05-04

Variant appearance in text: ATM: Val410Ala
PubMed Link: 27146902
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_878.pdf
View BVdb publication page