Publications:

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: 5945A>G; Gln1982Arg; rs543980602

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Sequential and co-occurring DNA damage response genetic mutations impact survival in stage III colorectal cancer patients receiving adjuvant oxaliplatin-based chemotherapy.

Bmc Cancer

Lin, Peng-Chan PC; Yeh, Yu-Min YM; Chan, Ren-Hao RH; Lin, Bo-Wen BW; Chen, Po-Chuan PC; Pan, Chien-Chang CC; Shen, Meng-Ru MR

Publication Date: 2021-03-02

Variant appearance in text: ATM: Q1982R

PubMed Link: 33653301

Variant Present in the following documents:

• 12885_2021_7926_MOESM1_ESM.pdf

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Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging

Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N

Publication Date: 2020-02-24

Variant appearance in text: ATM: 5945A>G; Gln1982Arg; rs543980602

PubMed Link: 32091409

Variant Present in the following documents:

• aging-12-102783-s001..xlsx, sheet 1

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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: 5945A>G; Gln1982Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports

Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V

Publication Date: 2017-03-03

Variant appearance in text: ATM: Q1982R

PubMed Link: 28256603

Variant Present in the following documents:

• srep42980-s2.xls, sheet 9
• srep42980-s2.xls, sheet 7

View BVdb publication page