Publications:

The repertoire of germline variants in patients with early-onset rectal cancer.

Cancer Communications (London, England)

Beltrami, Caroline Moraes CM; do Canto, Luisa Matos LM; Villacis, Rolando André Rios RAR; Petersen, Annabeth Høgh AH; Aagaard, Mads Malik MM; Cury, Sarah Santiloni SS; Formiga, Maria Nirvana da Cruz MNDC; Junior, Samuel Aguiar SA; Rogatto, Silvia Regina SR

Publication Date: 2022-05

Variant appearance in text: ATM: 4303A>T

PubMed Link: 35029067

Variant Present in the following documents:

• CAC2-42-481-s003.xlsx, sheet 3
• CAC2-42-481-s003.xlsx, sheet 5
• CAC2-42-481-s003.xlsx, sheet 4

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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: 4303A>T; K1435X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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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: 4303A>T; Lys1435*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page