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: TP53: 327_328del; Phe109Leufs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 327_328delCC; Phe109Leufs

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

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Triple-negative breast cancer patients treated at MD Anderson Cancer Center in phase I trials: improved outcomes with combination chemotherapy and targeted agents.

Molecular Cancer Therapeutics

Ganesan, Prasanth P; Moulder, Stacy S; Lee, J Jack JJ; Janku, Filip F; Valero, Vicente V; Zinner, Ralph G RG; Naing, Aung A; Fu, Siqing S; Tsimberidou, Apostolia M AM; Hong, David D; Stephen, Bettzy B; Stephens, Philip P; Yelensky, Roman R; Meric-Bernstam, Funda F; Kurzrock, Razelle R; Wheler, Jennifer J JJ

Publication Date: 2014-12

Variant appearance in text: TP53: F109fs*39

PubMed Link: 25253784

Variant Present in the following documents:

• Main text

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