Publications:

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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: 8140C>T; Gln2714Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 8140C>T; Q2714X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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IGLV3-21 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Maity, Palash C PC; Bilal, Mayas M; Koning, Marvyn T MT; Young, Marc M; van Bergen, Cornelis A M CAM; Renna, Valerio V; Nicolò, Antonella A; Datta, Moumita M; Gentner-Göbel, Eva E; Barendse, Rob S RS; Somers, Sebastiaan F SF; de Groen, Ruben A L RAL; Vermaat, Joost S P JSP; Steinbrecher, Daniela D; Schneider, Christof C; Tausch, Eugen E; Bittolo, Tamara T; Bomben, Riccardo R; Mazzarello, Andrea Nicola AN; Del Poeta, Giovanni G; Kroes, Wilma G M WGM; van Wezel, J Tom JT; Imkeller, Katharina K; Busse, Christian E CE; Degano, Massimo M; Bakchoul, Tamam T; Schulz, Axel Ronald AR; Mei, Henrik H; Ghia, Paolo P; Kotta, Konstantia K; Stamatopoulos, Kostas K; Wardemann, Hedda H; Zucchetto, Antonella A; Chiorazzi, Nicholas N; Gattei, Valter V; Stilgenbauer, Stephan S; Veelken, Hendrik H; Jumaa, Hassan H

Publication Date: 2020-02-25

Variant appearance in text: ATM: Q2714X

PubMed Link: 32047037

Variant Present in the following documents:

• pnas.1913810117.sapp.pdf

View BVdb publication page

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Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Breast Cancer Research : Bcr

Renault, Anne-Laure AL; Mebirouk, Noura N; Fuhrmann, Laetitia L; Bataillon, Guillaume G; Cavaciuti, Eve E; Le Gal, Dorothée D; Girard, Elodie E; Popova, Tatiana T; La Rosa, Philippe P; Beauvallet, Juana J; Eon-Marchais, Séverine S; Dondon, Marie-Gabrielle MG; d'Enghien, Catherine Dubois CD; Laugé, Anthony A; Chemlali, Walid W; Raynal, Virginie V; Labbé, Martine M; Bièche, Ivan I; Baulande, Sylvain S; Bay, Jacques-Olivier JO; Berthet, Pascaline P; Caron, Olivier O; Buecher, Bruno B; Faivre, Laurence L; Fresnay, Marc M; Gauthier-Villars, Marion M; Gesta, Paul P; Janin, Nicolas N; Lejeune, Sophie S; Maugard, Christine C; Moutton, Sébastien S; Venat-Bouvet, Laurence L; Zattara, Hélène H; Fricker, Jean-Pierre JP; Gladieff, Laurence L; Coupier, Isabelle I; , ; , ; , ; Chenevix-Trench, Georgia G; Hall, Janet J; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F

Publication Date: 2018-04-17

Variant appearance in text: ATM: 8140C>T; Gln2714X

PubMed Link: 29665859

Variant Present in the following documents:

• Main text
• 13058_2018_Article_951.pdf

View BVdb publication page

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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: 8140C>T; Gln2714*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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

Plos One

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

Publication Date: 2015

Variant appearance in text: ATM: Q2714X

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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ATM polymorphisms as risk factors for prostate cancer development.

British Journal Of Cancer

Angèle, S S; Falconer, A A; Edwards, S M SM; Dörk, T T; Bremer, M M; Moullan, N N; Chapot, B B; Muir, K K; Houlston, R R; Norman, A R AR; Bullock, S S; Hope, Q Q; Meitz, J J; Dearnaley, D D; Dowe, A A; Southgate, C C; Ardern-Jones, A A; Easton, D F DF; Eeles, R A RA; Hall, J J

Publication Date: 2004-08-16

Variant appearance in text: ATM: Q2714X

PubMed Link: 15280931

Variant Present in the following documents:

• Main text
• 91-6602007a.pdf

View BVdb publication page

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