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: MSH6: 2993C>T; Ser998Phe

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: MSH6: S998F

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 2

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Comprehensive Genomic Profiling of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures.

The Oncologist

Johnson, Adrienne A; Severson, Eric E; Gay, Laurie L; Vergilio, Jo-Anne JA; Elvin, Julia J; Suh, James J; Daniel, Sugganth S; Covert, Mandy M; Frampton, Garrett M GM; Hsu, Sigmund S; Lesser, Glenn J GJ; Stogner-Underwood, Kimberly K; Mott, Ryan T RT; Rush, Sarah Z SZ; Stanke, Jennifer J JJ; Dahiya, Sonika S; Sun, James J; Reddy, Prasanth P; Chalmers, Zachary R ZR; Erlich, Rachel R; Chudnovsky, Yakov Y; Fabrizio, David D; Schrock, Alexa B AB; Ali, Siraj S; Miller, Vincent V; Stephens, Philip J PJ; Ross, Jeffrey J; Crawford, John R JR; Ramkissoon, Shakti H SH

Publication Date: 2017-12

Variant appearance in text: MSH6: S998F

PubMed Link: 28912153

Variant Present in the following documents:

• onco12246.pdf

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Genomic Disparities in Breast Cancer Among Latinas.

Cancer Control : Journal Of The Moffitt Cancer Center

Lynce, Filipa F; Graves, Kristi D KD; Jandorf, Lina L; Ricker, Charite C; Castro, Eida E; Moreno, Laura L; Augusto, Bianca B; Fejerman, Laura L; Vadaparampil, Susan T ST

Publication Date: 2016-10

Variant appearance in text: MSH6: 2993C>T

PubMed Link: 27842325

Variant Present in the following documents:

• Main text

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