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: 5931delT; Phe1977Leufs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 4

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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: ATM: 5931delT

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 34

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Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yurgelun, Matthew B MB; Chittenden, Anu B AB; Morales-Oyarvide, Vicente V; Rubinson, Douglas A DA; Dunne, Richard F RF; Kozak, Margaret M MM; Qian, Zhi Rong ZR; Welch, Marisa W MW; Brais, Lauren K LK; Da Silva, Annacarolina A; Bui, Justin L JL; Yuan, Chen C; Li, Tingting T; Li, Wanwan W; Masuda, Atsuhiro A; Gu, Mancang M; Bullock, Andrea J AJ; Chang, Daniel T DT; Clancy, Thomas E TE; Linehan, David C DC; Findeis-Hosey, Jennifer J JJ; Doyle, Leona A LA; Thorner, Aaron R AR; Ducar, Matthew D MD; Wollison, Bruce M BM; Khalaf, Natalia N; Perez, Kimberly K; Syngal, Sapna S; Aguirre, Andrew J AJ; Hahn, William C WC; Meyerson, Matthew L ML; Fuchs, Charles S CS; Ogino, Shuji S; Hornick, Jason L JL; Hezel, Aram F AF; Koong, Albert C AC; Nowak, Jonathan A JA; Wolpin, Brian M BM

Publication Date: 2019-01

Variant appearance in text: ATM: 5931delT; F1977Lfs

PubMed Link: 29961768

Variant Present in the following documents:

• Main text

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