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: 802C>T; Gln268Ter

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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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: 802C>T; Gln268Ter; rs557012154

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

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Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene.

Journal Of The Endocrine Society

Miasaki, Fabíola Y FY; Saito, Kelly C KC; Yamamoto, Guilherme L GL; Boguszewski, César L CL; de Carvalho, Gisah A GA; Kimura, Edna T ET; Kopp, Peter A PA

Publication Date: 2022-04-01

Variant appearance in text: ATM: 802C>T; Q268X

PubMed Link: 35284771

Variant Present in the following documents:

• Main text
• bvac026.pdf

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: 802C>T; Q268X; rs557012154

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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Pan-cancer Analysis of Tumor Mutational Burden and Homologous Recombination DNA Damage Repair Using Targeted Next-Generation Sequencing.

Cancer Research And Treatment

Wang, Hai-Yun HY; Deng, Ling L; Li, Ying-Qing YQ; Zhang, Xiao X; Long, Ya-Kang YK; Zhang, Xu X; Feng, Yan-Fen YF; He, Yuan Y; Tang, Tao T; Yang, Xin-Hua XH; Wang, Fang F

Publication Date: 2021-10

Variant appearance in text: ATM: Q268*

PubMed Link: 33677848

Variant Present in the following documents:

• crt-2020-798_S12_Table.pdf

View BVdb publication page

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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: 802C>T; Gln268Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 802C>T; Gln268*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Oncotarget

Huang, Dong-Sheng DS; Tao, Hou-Quan HQ; He, Xu-Jun XJ; Long, Ming M; Yu, Sheng S; Xia, Ying-Jie YJ; Wei, Zhang Z; Xiong, Zikai Z; Jones, Sian S; He, Yiping Y; Yan, Hai H; Wang, Xiaoyue X

Publication Date: 2015-12-01

Variant appearance in text: ATM: Q268X

PubMed Link: 26506520

Variant Present in the following documents:

• oncotarget-06-40953-s001.pdf

View BVdb publication page

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