ATM c.7913G>A ;(p.W2638*)

Variant ID: 11-108203613-G-A

NM_000051.3(ATM):c.7913G>A;(p.W2638*)

This variant was identified in 28 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: 7913G>A; Trp2638Ter; rs377349459
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: 7913G>A; Trp2638Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Publication Date: 2023-03

Variant appearance in text: ATM: W2638X; rs377349459
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.

Frontiers In Oncology
Paixão, Daniele D; Torrezan, Giovana Tardin GT; Santiago, Karina Miranda KM; Formiga, Maria Nirvana MN; Ahuno, Samuel Terkper ST; Dias-Neto, Emmanuel E; Tojal da Silva, Israel I; Foulkes, William D WD; Polak, Paz P; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: ATM: 7913G>A; Trp2638Ter; rs377349459
PubMed Link: 36119527
Variant Present in the following documents:
  • Main text
  • fonc-12-976959.pdf
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: 7913G>A; Trp2638Ter; rs377349459
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 1
View BVdb publication page



Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.

Breast Cancer Research And Treatment
Felix, Gabriela E S GES; Guindalini, Rodrigo Santa Cruz RSC; Zheng, Yonglan Y; Walsh, Tom T; Sveen, Elisabeth E; Lopes, Taisa Manuela Machado TMM; Côrtes, Juliana J; Zhang, Jing J; Carôzo, Polyanna P; Santos, Irlânia I; Bonfim, Thaís Ferreira TF; Garicochea, Bernardo B; Toralles, Maria Betânia Pereira MBP; Meyer, Roberto R; Netto, Eduardo Martins EM; Abe-Sandes, Kiyoko K; King, Mary-Claire MC; de Oliveira Nascimento, Ivana Lucia IL; Olopade, Olufunmilayo I OI
Publication Date: 2022-06

Variant appearance in text: ATM: 7913G>A
PubMed Link: 35353237
Variant Present in the following documents:
  • Main text
  • 10549_2022_Article_6560.pdf
View BVdb publication page



Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.

Hgg Advances
Loke, Johnny J; Alim, Ishraq I; Yam, Sarah S; Klugman, Susan S; Xia, Li C LC; Gruber, Dorota D; Tegay, David D; LaBella, Andrea A; Onel, Kenan K; Ostrer, Harry H
Publication Date: 2022-04-14

Variant appearance in text: ATM: 7913G>A
PubMed Link: 35146455
Variant Present in the following documents:
  • mmc1.pdf
  • mmc4.pdf
View BVdb publication page



Programmed cell death ligand 1 expression in aggressive pediatric non-Hodgkin lymphomas: frequency, genetic mechanisms, and clinical significance.

Haematologica
Fisher, Kevin E KE; Ferguson, Lizmery S LS; Coffey, Amy M AM; Merritt, Brian Y BY; Curry, Jonathan L JL; Marcogliese, Andrea N AN; Major, Angela M AM; Kamdar, Kala Y KY; Lopez-Terrada, Dolores H DH; Curry, Choladda V CV
Publication Date: 2022-08-01

Variant appearance in text: ATM: 7913G>A; Trp2638Ter
PubMed Link: 35081690
Variant Present in the following documents:
  • 2021_280342_FISHER_SUPPL.pdf
  • 1071880.pdf
View BVdb publication page



Genetic Susceptibility to Breast Cancer in Sub-Saharan African Populations.

Jco Global Oncology
Hayat, Mahtaab M; Chen, Wenlong Carl WC; Brandenburg, Jean-Tristan JT; Babb de Villiers, Chantal C; Ramsay, Michèle M; Mathew, Christopher G CG
Publication Date: 2021-09

Variant appearance in text: ATM: Trp2638Ter
PubMed Link: 34623906
Variant Present in the following documents:
  • go-7-go.21.00089.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: 7913G>A; W2638*
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.

Plos One
Sandoval, Renata Lazari RL; Leite, Ana Carolina Rathsam ACR; Barbalho, Daniel Meirelles DM; Assad, Daniele Xavier DX; Barroso, Romualdo R; Polidorio, Natalia N; Dos Anjos, Carlos Henrique CH; de Miranda, Andréa Discaciati AD; Ferreira, Ana Carolina Salles de Mendonça ACSM; Fernandes, Gustavo Dos Santos GDS; Achatz, Maria Isabel MI
Publication Date: 2021

Variant appearance in text: ATM: 7913G>A; Trp2638*; rs377349459
PubMed Link: 33606809
Variant Present in the following documents:
  • Main text
  • pone.0247363.pdf
View BVdb publication page



Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.

Npj Breast Cancer
Walsh, Tom T; Gulsuner, Suleyman S; Lee, Ming K MK; Troester, Melissa A MA; Olshan, Andrew F AF; Earp, H Shelton HS; Perou, Charles M CM; King, Mary-Claire MC
Publication Date: 2021-01-21

Variant appearance in text: ATM: 7913G>A; W2638X
PubMed Link: 33479248
Variant Present in the following documents:
  • 41523_2020_214_MOESM1_ESM.pdf
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: 7913G>A
PubMed Link: 32708810
Variant Present in the following documents:
  • ijms-21-05036-s001.pdf
View BVdb publication page



Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Adedokun, Babatunde B; Zheng, Yonglan Y; Ndom, Paul P; Gakwaya, Antony A; Makumbi, Timothy T; Zhou, Alicia Y AY; Yoshimatsu, Toshio F TF; Rodriguez, Alex A; Madduri, Ravi K RK; Foster, Ian T IT; Sallam, Aminah A; Olopade, Olufunmilayo I OI; Huo, Dezheng D
Publication Date: 2020-02

Variant appearance in text: ATM: 7913G>A; Trp2638*
PubMed Link: 31871109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: ATM: 7913G>A; Trp2638Ter
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7
View BVdb publication page



Derivation of Breast Cancer Cell Lines Under Physiological (5%) Oxygen Concentrations.

Frontiers In Oncology
Leung, Euphemia Y EY; Askarian-Amiri, Marjan E ME; Singleton, Dean C DC; Ferraro-Peyret, Carole C; Joseph, Wayne R WR; Finlay, Graeme J GJ; Broom, Reuben J RJ; Kakadia, Purvi M PM; Bohlander, Stefan K SK; Marshall, Elaine E; Baguley, Bruce C BC
Publication Date: 2018

Variant appearance in text: ATM: W2638*
PubMed Link: 30370249
Variant Present in the following documents:
  • fonc-08-00425.pdf
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: W2638X
PubMed Link: 29599344
Variant Present in the following documents:
  • Main text
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: 7913G>A; Trp2638Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: ATM: 7913G>A; W2638*
PubMed Link: 28152038
Variant Present in the following documents:
  • Main text
  • pone.0170843.s003.xlsx, sheet 1
  • pone.0170843.s004.xlsx, sheet 1
View BVdb publication page



Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Breast Cancer Research And Treatment
Pritzlaff, Mary M; Summerour, Pia P; McFarland, Rachel R; Li, Shuwei S; Reineke, Patrick P; Dolinsky, Jill S JS; Goldgar, David E DE; Shimelis, Hermela H; Couch, Fergus J FJ; Chao, Elizabeth C EC; LaDuca, Holly H
Publication Date: 2017-02

Variant appearance in text: ATM: W2638*
PubMed Link: 28008555
Variant Present in the following documents:
  • Main text
  • 10549_2016_Article_4085.pdf
View BVdb publication page



Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.

The Oncologist
Hirshfield, Kim M KM; Tolkunov, Denis D; Zhong, Hua H; Ali, Siraj M SM; Stein, Mark N MN; Murphy, Susan S; Vig, Hetal H; Vazquez, Alexei A; Glod, John J; Moss, Rebecca A RA; Belyi, Vladimir V; Chan, Chang S CS; Chen, Suzie S; Goodell, Lauri L; Foran, David D; Yelensky, Roman R; Palma, Norma A NA; Sun, James X JX; Miller, Vincent A VA; Stephens, Philip J PJ; Ross, Jeffrey S JS; Kaufman, Howard H; Poplin, Elizabeth E; Mehnert, Janice J; Tan, Antoinette R AR; Bertino, Joseph R JR; Aisner, Joseph J; DiPaola, Robert S RS; Rodriguez-Rodriguez, Lorna L; Ganesan, Shridar S
Publication Date: 2016-11

Variant appearance in text: ATM: W2638*
PubMed Link: 27566247
Variant Present in the following documents:
  • supp_the2016-0049_Supplemental_Tables.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: 7913G>A; W2638*
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: 7913G>A; Trp2638*
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page



Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF
Publication Date: 2016-07-10

Variant appearance in text: ATM: 7913G>A; W2638*; rs377349459
PubMed Link: 27161972
Variant Present in the following documents:
  • supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1
View BVdb publication page



Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
Publication Date: 2016-08

Variant appearance in text: ATM: 7913G>A; Trp2638Ter
PubMed Link: 26681312
Variant Present in the following documents:
View BVdb publication page



Infection of a Single Cell Line with Distinct Strains of Human Cytomegalovirus Can Result in Large Variations in Virion Production and Facilitate Efficient Screening of Virus Protein Function.

Journal Of Virology
Zavala, Anamaria G AG; O'Dowd, John M JM; Fortunato, Elizabeth A EA
Publication Date: 2015-12-16

Variant appearance in text: ATM: W2638X
PubMed Link: 26676783
Variant Present in the following documents:
  • Main text
View BVdb publication page



A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Du, Liutao L; Jung, Michael E ME; Damoiseaux, Robert R; Completo, Gladys G; Fike, Francesca F; Ku, Jin-Mo JM; Nahas, Shareef S; Piao, Cijing C; Hu, Hailiang H; Gatti, Richard A RA
Publication Date: 2013-09

Variant appearance in text: ATM: W2638X
PubMed Link: 23774824
Variant Present in the following documents:
  • Main text
View BVdb publication page