Publications:

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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: K640X

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Jto Clinical And Research Reports

Thompson, Jeffrey C JC; Aggarwal, Charu C; Wong, Janeline J; Nimgaonkar, Vivek V; Hwang, Wei-Ting WT; Andronov, Michelle M; Dibardino, David M DM; Hutchinson, Christoph T CT; Ma, Kevin C KC; Lanfranco, Anthony A; Moon, Edmund E; Haas, Andrew R AR; Singh, Aditi P AP; Ciunci, Christine A CA; Marmarelis, Melina M; D'Avella, Christopher C; Cohen, Justine V JV; Bauml, Joshua M JM; Cohen, Roger B RB; Langer, Corey J CJ; Vachani, Anil A; Carpenter, Erica L EL

Publication Date: 2022-04

Variant appearance in text: ATM: K640*

PubMed Link: 35392653

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: 1918A>T; Lys640Ter

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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Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Molecular Genetics & Genomic Medicine

Asadollahi, Reza R; Britschgi, Christian C; Joset, Pascal P; Oneda, Beatrice B; Schindler, Detlev D; Meier, Urs R UR; Rauch, Anita A

Publication Date: 2020-10

Variant appearance in text: ATM: Lys640*

PubMed Link: 32748564

Variant Present in the following documents:

• Main text
• MGG3-8-e1409.pdf

View BVdb publication page

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Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

British Journal Of Cancer

Byrd, P J PJ; Srinivasan, V V; Last, J I JI; Smith, A A; Biggs, P P; Carney, E F EF; Exley, A A; Abson, C C; Stewart, G S GS; Izatt, L L; Taylor, A M AM

Publication Date: 2012-01-17

Variant appearance in text: ATM: 1918A>T

PubMed Link: 22146522

Variant Present in the following documents:

• Main text

View BVdb publication page

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Low levels of ATM in breast cancer patients with clinical radiosensitivity.

Genome Integrity

Fang, Zhiming Z; Kozlov, Sergei S; McKay, Michael J MJ; Woods, Rick R; Birrell, Geoff G; Sprung, Carl N CN; Murrell, Dédée F DF; Wangoo, Kiran K; Teng, Linda L; Kearsley, John H JH; Lavin, Martin F MF; Graham, Peter H PH; Clarke, Raymond A RA

Publication Date: 2010-06-24

Variant appearance in text: ATM: 1918A>T

PubMed Link: 20678261

Variant Present in the following documents:

• Main text
• 2041-9414-1-9.pdf

View BVdb publication page

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