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: HNPCC2: R725G

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: MLH1: 2173C>G; Arg725Gly

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

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Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

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

Maxwell, Kara N KN; Wubbenhorst, Bradley B; D'Andrea, Kurt K; Garman, Bradley B; Long, Jessica M JM; Powers, Jacquelyn J; Rathbun, Katherine K; Stopfer, Jill E JE; Zhu, Jiajun J; Bradbury, Angela R AR; Simon, Michael S MS; DeMichele, Angela A; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2015-08

Variant appearance in text: MLH1: R725G; rs138584384

PubMed Link: 25503501

Variant Present in the following documents:

• NIHMS641969-supplement-Supplementary_Table_1.xls, sheet 1

View BVdb publication page