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: 215C>G; Thr72Arg

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes

Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R

Publication Date: 2019-10-10

Variant appearance in text: ATM: 215C>G

PubMed Link: 31658756

Variant Present in the following documents:

• genes-10-00786.pdf

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Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: ATM: 215C>G

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

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Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial: Molecular Analysis for Therapy Choice Clinical Trial.

The Journal Of Molecular Diagnostics : Jmd

Lih, Chih-Jian CJ; Harrington, Robin D RD; Sims, David J DJ; Harper, Kneshay N KN; Bouk, Courtney H CH; Datta, Vivekananda V; Yau, Jonathan J; Singh, Rajesh R RR; Routbort, Mark J MJ; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Mantha, Geeta S GS; Krishnamurthy, Savitri S; Ronski, Karyn K; Walther, Zenta Z; Finberg, Karin E KE; Canosa, Sandra S; Robinson, Hayley H; Raymond, Amelia A; Le, Long P LP; McShane, Lisa M LM; Polley, Eric C EC; Conley, Barbara A BA; Doroshow, James H JH; Iafrate, A John AJ; Sklar, Jeffrey L JL; Hamilton, Stanley R SR; Williams, P Mickey PM

Publication Date: 2017-03

Variant appearance in text: ATM: 215C>G

PubMed Link: 28188106

Variant Present in the following documents:

• Main text

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