Publications:

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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: 8314G>A; Gly2772Arg

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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A novel genomic classification system of gastric cancer via integrating multidimensional genomic characteristics.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Wang, Haiyong H; Ding, Yongfeng Y; Chen, Yanyan Y; Jiang, Junjie J; Chen, Yiran Y; Lu, Jun J; Kong, Mei M; Mo, Fan F; Huang, Yingying Y; Zhao, Wenyi W; Fang, Ping P; Chen, Xiangliu X; Teng, Xiaodong X; Xu, Nong N; Lu, Yimin Y; Yu, Xiongfei X; Li, Zhongqi Z; Zhang, Jing J; Wang, Haohao H; Bao, Xuanwen X; Zhou, Donghui D; Chi, Ying Y; Zhou, Tianhua T; Zhou, Zhan Z; Chen, Shuqing S; Teng, Lisong L

Publication Date: 2021-11

Variant appearance in text: ATM: G2772R

PubMed Link: 34095982

Variant Present in the following documents:

• 10120_2021_1201_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.

Frontiers In Neurology

Pogoda, Michaela M; Hilke, Franz-Joachim FJ; Lohmann, Ebba E; Sturm, Marc M; Lenz, Florian F; Matthes, Jakob J; Muyas, Francesc F; Ossowski, Stephan S; Hoischen, Alexander A; Faust, Ulrike U; Sepahi, Ilnaz I; Casadei, Nicolas N; Poths, Sven S; Riess, Olaf O; Schroeder, Christopher C; Grundmann, Kathrin K

Publication Date: 2019

Variant appearance in text: ATM: 8314G>A; Gly2772Arg

PubMed Link: 31920950

Variant Present in the following documents:

• Main text
• fneur-10-01332.pdf

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Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.

Bmc Cancer

Podralska, Marta M; Ziółkowska-Suchanek, Iwona I; Żurawek, Magdalena M; Dzikiewicz-Krawczyk, Agnieszka A; Słomski, Ryszard R; Nowak, Jerzy J; Stembalska, Agnieszka A; Pesz, Karolina K; Mosor, Maria M

Publication Date: 2018-04-20

Variant appearance in text: ATM: 8314G>A; G2772R

PubMed Link: 29678143

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4360.pdf

View BVdb publication page

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The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.

Human Mutation

Stredrick, Denise L DL; Garcia-Closas, Montserrat M; Pineda, Marbin A MA; Bhatti, Parveen P; Alexander, Bruce H BH; Doody, Michele M MM; Lissowska, Jolanta J; Peplonska, Beata B; Brinton, Louise A LA; Chanock, Stephen J SJ; Struewing, Jeffery P JP; Sigurdson, Alice J AJ

Publication Date: 2006-06

Variant appearance in text: N/A

PubMed Link: 16652348

Variant Present in the following documents:

View BVdb publication page

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Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

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

Scott, Shaun P SP; Bendix, Regina R; Chen, Philip P; Clark, Raymond R; Dork, Thilo T; Lavin, Martin F MF

Publication Date: 2002-01-22

Variant appearance in text: ATM: G2772R

PubMed Link: 11805335

Variant Present in the following documents:

• Main text

View BVdb publication page

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