ATM c.3802del ;(p.V1268*)

Variant ID: 11-108155007-AG-A

NM_000051.3(ATM):c.3802del;(p.V1268*)

This variant was identified in 48 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: 3802del; rs587779834
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: 3802delG
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: 3801delG
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants in 786 neuroblastoma patients.

Medrxiv : The Preprint Server For Health Sciences
Kim, Jung J; Vaksman, Zalman Z; Egolf, Laura E LE; Kaufman, Rebecca R; Evans, J Perry JP; Conkrite, Karina L KL; Danesh, Arnavaz A; Lopez, Gonzalo G; Randall, Michael P MP; Dent, Maiah H MH; Farra, Lance M LM; Menghani, Neil N; Dymek, Malwina M; Desai, Heena H; Hausler, Ryan R; , ; , ; , ; Auvil, Jaime Guidry JG; Gerhard, Daniela S DS; Hakonarson, Hakon H; Maxwell, Kara N KN; Cole, Kristina A KA; Pugh, Trevor J TJ; Bosse, Kristopher R KR; Khan, Javed J; Wei, Jun S JS; Maris, John M JM; Stewart, Douglas R DR; Diskin, Sharon J SJ
Publication Date: 2023-01-25

Variant appearance in text: ATM: 3801delG; Val1268fs; rs587779834
PubMed Link: 36747619
Variant Present in the following documents:
  • media-2.xlsx, sheet 3
View BVdb publication page



Novel ATM Gene c.5644 C > T (p.Arg1882*) Variant Detected in a Patient with Pancreatic Adenocarcinoma and Two Primary Non-Small Cell Lung Adenocarcinomas: A Case Report.

Diseases (Basel, Switzerland)
Aljamal, Abed A AA; Elajami, Mohamad K MK; Mansour, Ephraim H EH; Bahmad, Hisham F HF; Medina, Ana Maria AM; Cusnir, Mike M
Publication Date: 2022-12-01

Variant appearance in text: ATM: 3801delG
PubMed Link: 36547201
Variant Present in the following documents:
  • Main text
  • diseases-10-00115.pdf
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: 3802delG; Val1268Terfs; rs587779834
PubMed Link: 36119527
Variant Present in the following documents:
  • Main text
  • fonc-12-976959.pdf
View BVdb publication page



Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Frontiers In Immunology
Quinn, Jessica J; Modell, Vicki V; Johnson, Britt B; Poll, Sarah S; Aradhya, Swaroop S; Orange, Jordan S JS; Modell, Fred F
Publication Date: 2022

Variant appearance in text: ATM: 3802del; Val1268*
PubMed Link: 35757720
Variant Present in the following documents:
  • DataSheet_1.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: 3802del; Val1268Ter
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS3.xlsx, sheet 3
  • LSA-2021-01319_TableS1.xlsx, sheet 1
View BVdb publication page



Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.

Breast Cancer Research : Bcr
Renault, Anne-Laure AL; Dowty, James G JG; Steen, Jason A JA; Li, Shuai S; Winship, Ingrid M IM; Giles, Graham G GG; Hopper, John L JL; Southey, Melissa C MC; Nguyen-Dumont, Tú T
Publication Date: 2022-04-01

Variant appearance in text: ATM: 3802delG; Val1268*
PubMed Link: 35365198
Variant Present in the following documents:
  • Main text
  • 13058_2022_Article_1518.pdf
View BVdb publication page



Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances
Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM
Publication Date: 2022-11-08

Variant appearance in text: ATM: V1268fs*1
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: ATM: 3802delG; Val1268fs
PubMed Link: 35264596
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_7383.pdf
  • 41598_2022_7383_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel Insights From the Germline Landscape of Breast Cancer in Brazil.

Frontiers In Oncology
Barbalho, Daniel D; Sandoval, Renata R; Santos, Erika E; Pisani, Janina J; Quirino, Carla C; Garicochea, Bernardo B; Rossi, Benedito B; Achatz, Maria Isabel MI
Publication Date: 2021

Variant appearance in text: ATM: 3802delG; Val1268*
PubMed Link: 35155181
Variant Present in the following documents:
  • Main text
View BVdb publication page



Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.

Frontiers In Immunology
Blanchard-Rohner, Geraldine G; Peirolo, Anna A; Coulon, Ludivine L; Korff, Christian C; Horvath, Judit J; Burkhard, Pierre R PR; Gumy-Pause, Fabienne F; Ranza, Emmanuelle E; Jandus, Peter P; Dibra, Harpreet H; Taylor, Alexander Malcolm R AMR; Fluss, Joel J
Publication Date: 2022

Variant appearance in text: ATM: 3802delG; Val1268Ter
PubMed Link: 35154108
Variant Present in the following documents:
  • Main text
  • fimmu-13-791522.pdf
View BVdb publication page



A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.

Hgg Advances
Yu, Yao Y; Chang, Kyle K; Chen, Jiun-Sheng JS; Bohlender, Ryan J RJ; Fowler, Jerry J; Zhang, Di D; Huang, Maosheng M; Chang, Ping P; Li, Yanan Y; Wong, Justin J; Wang, Huamin H; Gu, Jian J; Wu, Xifeng X; Schildkraut, Joellen J; Cannon-Albright, Lisa L; Ye, Yuanqing Y; Zhao, Hua H; Hildebrandt, Michelle A T MAT; Permuth, Jennifer B JB; Li, Donghui D; Scheet, Paul P; Huff, Chad D CD
Publication Date: 2022-01-13

Variant appearance in text: ATM: 3801delG
PubMed Link: 35047863
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: ATM: 3802delG; Val1268*
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.pdf
View BVdb publication page



Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09

Variant appearance in text: ATM: 3802del; Val1268Terfs
PubMed Link: 34887416
Variant Present in the following documents:
  • 41523_2021_360_MOESM1_ESM.pdf
View BVdb publication page



Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09

Variant appearance in text: ATM: 3802del; Val1268Terfs
PubMed Link: 34887416
Variant Present in the following documents:
  • 41523_2021_360_MOESM1_ESM.pdf
View BVdb publication page



NGS in Hereditary Ataxia: When Rare Becomes Frequent.

International Journal Of Molecular Sciences
Galatolo, Daniele D; De Michele, Giovanna G; Silvestri, Gabriella G; Leuzzi, Vincenzo V; Casali, Carlo C; Musumeci, Olimpia O; Antenora, Antonella A; Astrea, Guja G; Barghigiani, Melissa M; Battini, Roberta R; Battisti, Carla C; Caputi, Caterina C; Cioffi, Ettore E; De Michele, Giuseppe G; Dotti, Maria Teresa MT; Fico, Tommasina T; Fiorillo, Chiara C; Galosi, Serena S; Lieto, Maria M; Malandrini, Alessandro A; Melone, Marina A B MAB; Mignarri, Andrea A; Natale, Gemma G; Pegoraro, Elena E; Petrucci, Antonio A; Ricca, Ivana I; Riso, Vittorio V; Rossi, Salvatore S; Rubegni, Anna A; Scarlatti, Arianna A; Tinelli, Francesca F; Trovato, Rosanna R; Tedeschi, Gioacchino G; Tessa, Alessandra A; Filla, Alessandro A; Santorelli, Filippo Maria FM
Publication Date: 2021-08-06

Variant appearance in text: ATM: 3802delG; Val1268Ter
PubMed Link: 34445196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: ATM: 3802del; Val1268*
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



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

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

Variant appearance in text: ATM: 3802del; V1268*
PubMed Link: 34253785
Variant Present in the following documents:
  • Main text
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2022-02

Variant appearance in text: ATM: 3802delG; Val1268*
PubMed Link: 33758026
Variant Present in the following documents:
  • jmedgenet-2020-107347supp001.pdf
View BVdb publication page



High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2021-03-23

Variant appearance in text: ATM: 3802delG; Val1268*
PubMed Link: 33758026
Variant Present in the following documents:
  • jmedgenet-2020-107347supp001.pdf
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: 3802delG; V1268*
PubMed Link: 33436325
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
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: 3802delG
PubMed Link: 32708810
Variant Present in the following documents:
  • ijms-21-05036-s001.pdf
View BVdb publication page



Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.

Immunologic Research
Quinn, Jessica J; Modell, Vicki V; Holle, Jennifer J; Truty, Rebecca R; Aradhya, Swaroop S; Johnson, Britt B; Orange, Jordan J; Modell, Fred F
Publication Date: 2020-06

Variant appearance in text: ATM: 3802del; Val1268*
PubMed Link: 32462469
Variant Present in the following documents:
  • Main text
  • 12026_2020_Article_9131.pdf
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: ATM: 3802delG
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 2
  • pcbi.1007453.s002.xlsx, sheet 1
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: ATM: 3802delG; Val1268fs; rs587779834
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: ATM: 3802delG; V1268*
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
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: 3802delG; Val1268Terfs
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7
View BVdb publication page



Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Journal Of Medical Genetics
Stradella, Agostina A; Del Valle, Jesús J; Rofes, Paula P; Feliubadaló, Lídia L; Grau Garces, Èlia È; Velasco, Àngela À; González, Sara S; Vargas, Gardenia G; Izquierdo, Ángel Á; Campos, Olga O; Tornero, Eva E; Navarro, Matilde M; Balmaña-Gelpi, Judith J; Capellá, Gabriel G; Pineda, Marta M; Brunet, Joan J; Lázaro, Conxi C
Publication Date: 2019-08

Variant appearance in text: ATM: 3802delG; Val1268*
PubMed Link: 30580288
Variant Present in the following documents:
  • Main text
  • jmedgenet-2018-105700.pdf
View BVdb publication page



Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

International Journal Of Cancer
Girard, Elodie E; Eon-Marchais, Séverine S; Olaso, Robert R; Renault, Anne-Laure AL; Damiola, Francesca F; Dondon, Marie-Gabrielle MG; Barjhoux, Laure L; Goidin, Didier D; Meyer, Vincent V; Le Gal, Dorothée D; Beauvallet, Juana J; Mebirouk, Noura N; Lonjou, Christine C; Coignard, Juliette J; Marcou, Morgane M; Cavaciuti, Eve E; Baulard, Céline C; Bihoreau, Marie-Thérèse MT; Cohen-Haguenauer, Odile O; Leroux, Dominique D; Penet, Clotilde C; Fert-Ferrer, Sandra S; Colas, Chrystelle C; Frebourg, Thierry T; Eisinger, François F; Adenis, Claude C; Fajac, Anne A; Gladieff, Laurence L; Tinat, Julie J; Floquet, Anne A; Chiesa, Jean J; Giraud, Sophie S; Mortemousque, Isabelle I; Soubrier, Florent F; Audebert-Bellanger, Séverine S; Limacher, Jean-Marc JM; Lasset, Christine C; Lejeune-Dumoulin, Sophie S; Dreyfus, Hélène H; Bignon, Yves-Jean YJ; Longy, Michel M; Pujol, Pascal P; Venat-Bouvet, Laurence L; Bonadona, Valérie V; Berthet, Pascaline P; Luporsi, Elisabeth E; Maugard, Christine M CM; Noguès, Catherine C; Delnatte, Capucine C; Fricker, Jean-Pierre JP; Gesta, Paul P; Faivre, Laurence L; Lortholary, Alain A; Buecher, Bruno B; Caron, Olivier O; Gauthier-Villars, Marion M; Coupier, Isabelle I; Servant, Nicolas N; Boland, Anne A; Mazoyer, Sylvie S; Deleuze, Jean-François JF; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F
Publication Date: 2019-04-15

Variant appearance in text: ATM: 3801delG
PubMed Link: 30303537
Variant Present in the following documents:
View BVdb publication page



Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yurgelun, Matthew B MB; Chittenden, Anu B AB; Morales-Oyarvide, Vicente V; Rubinson, Douglas A DA; Dunne, Richard F RF; Kozak, Margaret M MM; Qian, Zhi Rong ZR; Welch, Marisa W MW; Brais, Lauren K LK; Da Silva, Annacarolina A; Bui, Justin L JL; Yuan, Chen C; Li, Tingting T; Li, Wanwan W; Masuda, Atsuhiro A; Gu, Mancang M; Bullock, Andrea J AJ; Chang, Daniel T DT; Clancy, Thomas E TE; Linehan, David C DC; Findeis-Hosey, Jennifer J JJ; Doyle, Leona A LA; Thorner, Aaron R AR; Ducar, Matthew D MD; Wollison, Bruce M BM; Khalaf, Natalia N; Perez, Kimberly K; Syngal, Sapna S; Aguirre, Andrew J AJ; Hahn, William C WC; Meyerson, Matthew L ML; Fuchs, Charles S CS; Ogino, Shuji S; Hornick, Jason L JL; Hezel, Aram F AF; Koong, Albert C AC; Nowak, Jonathan A JA; Wolpin, Brian M BM
Publication Date: 2019-01

Variant appearance in text: ATM: 3802delG
PubMed Link: 29961768
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Leukemia
Bolli, Niccolo N; Biancon, Giulia G; Moarii, Matahi M; Gimondi, Silvia S; Li, Yilong Y; de Philippis, Chiara C; Maura, Francesco F; Sathiaseelan, Vijitha V; Tai, Yu-Tzu YT; Mudie, Laura L; O'Meara, Sarah S; Raine, Keiran K; Teague, Jon W JW; Butler, Adam P AP; Carniti, Cristiana C; Gerstung, Moritz M; Bagratuni, Tina T; Kastritis, Efstathios E; Dimopoulos, Meletios M; Corradini, Paolo P; Anderson, Kenneth C KC; Moreau, Philippe P; Minvielle, Stephane S; Campbell, Peter J PJ; Papaemmanuil, Elli E; Avet-Loiseau, Herve H; Munshi, Nikhil C NC
Publication Date: 2018-12

Variant appearance in text: ATM: V1268fs*1
PubMed Link: 29789651
Variant Present in the following documents:
  • 41375_2018_37_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Novel FGFR2-INA fusion identified in two low-grade mixed neuronal-glial tumors drives oncogenesis via MAPK and PI3K/mTOR pathway activation.

Acta Neuropathologica
Jain, Payal P; Surrey, Lea F LF; Straka, Joshua J; Luo, Minjie M; Lin, Fumin F; Harding, Brian B; Resnick, Adam C AC; Storm, Phillip B PB; Buccoliero, Anna Maria AM; Santi, Mariarita M; Li, Marilyn M MM; Waanders, Angela J AJ
Publication Date: 2018-07

Variant appearance in text: ATM: 3802delG; V1268*; rs587779834
PubMed Link: 29767381
Variant Present in the following documents:
  • 401_2018_1864_MOESM1_ESM.pdf
View BVdb publication page



Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Chaffee, Kari G KG; Oberg, Ann L AL; McWilliams, Robert R RR; Majithia, Neil N; Allen, Brian A BA; Kidd, John J; Singh, Nanda N; Hartman, Anne-Renee AR; Wenstrup, Richard J RJ; Petersen, Gloria M GM
Publication Date: 2018-01

Variant appearance in text: ATM: 3802del; Val1268*
PubMed Link: 28726808
Variant Present in the following documents:
  • Main text
  • nihms885107.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: 3802delG; Val1268Terfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

Scientific Reports
Ruark, Elise E; Münz, Márton M; Clarke, Matthew M; Renwick, Anthony A; Ramsay, Emma E; Elliott, Anna A; Seal, Sheila S; Lunter, Gerton G; Rahman, Nazneen N
Publication Date: 2016-08-03

Variant appearance in text: ATM: 3802delG
PubMed Link: 27485037
Variant Present in the following documents:
  • srep31029-s2.xls, 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: 3802_3802delG; Val1268*
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.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: 3802delG; Val1268Ter
PubMed Link: 26681312
Variant Present in the following documents:
View BVdb publication page



Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Journal Of Medical Genetics
Li, Jun J; Meeks, Huong H; Feng, Bing-Jian BJ; Healey, Sue S; Thorne, Heather H; Makunin, Igor I; Ellis, Jonathan J; , ; Campbell, Ian I; Southey, Melissa M; Mitchell, Gillian G; Clouston, David D; Kirk, Judy J; Goldgar, David D; Chenevix-Trench, Georgia G
Publication Date: 2016-01

Variant appearance in text: ATM: 3802delG; Val1268*
PubMed Link: 26534844
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Molecular Genetics & Genomic Medicine
Podralska, Marta Joanna MJ; Stembalska, Agnieszka A; Ślęzak, Ryszard R; Lewandowicz-Uszyńska, Aleksandra A; Pietrucha, Barbara B; Kołtan, Sylwia S; Wigowska-Sowińska, Jadwiga J; Pilch, Jacek J; Mosor, Maria M; Ziółkowska-Suchanek, Iwona I; Dzikiewicz-Krawczyk, Agnieszka A; Słomski, Ryszard R
Publication Date: 2014-11

Variant appearance in text: ATM: 3802_3802delG; Val1268Ter
PubMed Link: 25614872
Variant Present in the following documents:
  • Main text
  • mgg30002-0504.pdf
View BVdb publication page



Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Gastroenterology
Grant, Robert C RC; Selander, Iris I; Connor, Ashton A AA; Selvarajah, Shamini S; Borgida, Ayelet A; Briollais, Laurent L; Petersen, Gloria M GM; Lerner-Ellis, Jordan J; Holter, Spring S; Gallinger, Steven S
Publication Date: 2015-03

Variant appearance in text: ATM: 3801delG
PubMed Link: 25479140
Variant Present in the following documents:
  • Main text
View BVdb publication page



A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

Molecular Genetics & Genomic Medicine
Nakamura, Kotoka K; Fike, Francesca F; Haghayegh, Sara S; Saunders-Pullman, Rachel R; Dawson, Angelika J AJ; Dörk, Thilo T; Gatti, Richard A RA
Publication Date: 2014-07

Variant appearance in text: ATM: 3802delG
PubMed Link: 25077176
Variant Present in the following documents:
  • Main text
  • mgg30002-0332.pdf
View BVdb publication page



Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.

Journal Of Neurogenetics
Srikanth, Priya P; Young-Pearse, Tracy L TL
Publication Date: 2014

Variant appearance in text: ATM: 3802delG
PubMed Link: 24628482
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited pancreatic cancer syndromes.

Cancer Journal (Sudbury, Mass.)
Solomon, Sheila S; Das, Siddhartha S; Brand, Randall R; Whitcomb, David C DC
Publication Date: 2012

Variant appearance in text: ATM: 3801delG
PubMed Link: 23187834
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATM mutations in patients with hereditary pancreatic cancer.

Cancer Discovery
Roberts, Nicholas J NJ; Jiao, Yuchen Y; Yu, Jun J; Kopelovich, Levy L; Petersen, Gloria M GM; Bondy, Melissa L ML; Gallinger, Steven S; Schwartz, Ann G AG; Syngal, Sapna S; Cote, Michele L ML; Axilbund, Jennifer J; Schulick, Richard R; Ali, Syed Z SZ; Eshleman, James R JR; Velculescu, Victor E VE; Goggins, Michael M; Vogelstein, Bert B; Papadopoulos, Nickolas N; Hruban, Ralph H RH; Kinzler, Kenneth W KW; Klein, Alison P AP
Publication Date: 2012-01

Variant appearance in text: ATM: 3801delG
PubMed Link: 22585167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

British Journal Of Cancer
Reiman, A A; Srinivasan, V V; Barone, G G; Last, J I JI; Wootton, L L LL; Davies, E G EG; Verhagen, M M MM; Willemsen, M A MA; Weemaes, C M CM; Byrd, P J PJ; Izatt, L L; Easton, D F DF; Thompson, D J DJ; Taylor, A M AM
Publication Date: 2011-08-09

Variant appearance in text: ATM: 3802delG; Val1268X
PubMed Link: 21792198
Variant Present in the following documents:
View BVdb publication page



Rare variants in the ATM gene and risk of breast cancer.

Breast Cancer Research : Bcr
Goldgar, David E DE; Healey, Sue S; Dowty, James G JG; Da Silva, Leonard L; Chen, Xiaoqing X; Spurdle, Amanda B AB; Terry, Mary Beth MB; Daly, Mary J MJ; Buys, Saundra M SM; Southey, Melissa C MC; Andrulis, Irene I; John, Esther M EM; , ; , ; Khanna, Kum Kum KK; Hopper, John L JL; Oefner, Peter J PJ; Lakhani, Sunil S; Chenevix-Trench, Georgia G
Publication Date: 2011-07-25

Variant appearance in text: ATM: 3802delG
PubMed Link: 21787400
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

American Journal Of Human Genetics
Tavtigian, Sean V SV; Oefner, Peter J PJ; Babikyan, Davit D; Hartmann, Anne A; Healey, Sue S; Le Calvez-Kelm, Florence F; Lesueur, Fabienne F; Byrnes, Graham B GB; Chuang, Shu-Chun SC; Forey, Nathalie N; Feuchtinger, Corinna C; Gioia, Lydie L; Hall, Janet J; Hashibe, Mia M; Herte, Barbara B; McKay-Chopin, Sandrine S; Thomas, Alun A; Vallée, Maxime P MP; Voegele, Catherine C; Webb, Penelope M PM; Whiteman, David C DC; , ; , ; , ; Sangrajrang, Suleeporn S; Hopper, John L JL; Southey, Melissa C MC; Andrulis, Irene L IL; John, Esther M EM; Chenevix-Trench, Georgia G
Publication Date: 2009-10

Variant appearance in text: ATM: 3802delG
PubMed Link: 19781682
Variant Present in the following documents:
  • Main text
View BVdb publication page