Publications:

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: 484C>T; Gln162Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: 484C>T; Gln162Ter

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Cancers

Velázquez, Carolina C; K, De Leeneer L; Esteban-Cardeñosa, Eva M EM; Avila Cobos, Francisco F; Lastra, Enrique E; Abella, Luis E LE; de la Cruz, Virginia V; Lobatón, Carmen D CD; Claes, Kathleen B KB; Durán, Mercedes M; Infante, Mar M

Publication Date: 2020-08-03

Variant appearance in text: ATM: 484C>T

PubMed Link: 32756499

Variant Present in the following documents:

• Main text
• cancers-12-02151.pdf

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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: 484C>T; Gln162*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Nature Genetics

Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J

Publication Date: 2015-05

Variant appearance in text: ATM: Q162X

PubMed Link: 25822088

Variant Present in the following documents:

• NIHMS62359-supplement-Table3.xlsx, sheet 1

View BVdb publication page