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: D41N

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Hechtman, Jaclyn F JF; Rana, Satshil S; Middha, Sumit S; Stadler, Zsofia K ZK; Latham, Alicia A; Benayed, Ryma R; Soslow, Robert R; Ladanyi, Marc M; Yaeger, Rona R; Zehir, Ahmet A; Shia, Jinru J

Publication Date: 2020-05

Variant appearance in text: MLH1: 121G>A; D41N

PubMed Link: 31857677

Variant Present in the following documents:

• Main text
• nihms-1541744.pdf

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Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.

Nature Communications

Gröschel, Stefan S; Hübschmann, Daniel D; Raimondi, Francesco F; Horak, Peter P; Warsow, Gregor G; Fröhlich, Martina M; Klink, Barbara B; Gieldon, Laura L; Hutter, Barbara B; Kleinheinz, Kortine K; Bonekamp, David D; Marschal, Oliver O; Chudasama, Priya P; Mika, Jagoda J; Groth, Marie M; Uhrig, Sebastian S; Krämer, Stephen S; Heining, Christoph C; Heilig, Christoph E CE; Richter, Daniela D; Reisinger, Eva E; Pfütze, Katrin K; Eils, Roland R; Wolf, Stephan S; von Kalle, Christof C; Brandts, Christian C; Scholl, Claudia C; Weichert, Wilko W; Richter, Stephan S; Bauer, Sebastian S; Penzel, Roland R; Schröck, Evelin E; Stenzinger, Albrecht A; Schlenk, Richard F RF; Brors, Benedikt B; Russell, Robert B RB; Glimm, Hanno H; Schlesner, Matthias M; Fröhling, Stefan S

Publication Date: 2019-04-09

Variant appearance in text: MLH1: D41N

PubMed Link: 30967556

Variant Present in the following documents:

• 41467_2019_9633_MOESM3_ESM.xlsx, sheet 1

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Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Nature

Miller, Alexandra M AM; Shah, Ronak H RH; Pentsova, Elena I EI; Pourmaleki, Maryam M; Briggs, Samuel S; Distefano, Natalie N; Zheng, Youyun Y; Skakodub, Anna A; Mehta, Smrutiben A SA; Campos, Carl C; Hsieh, Wan-Ying WY; Selcuklu, S Duygu SD; Ling, Lilan L; Meng, Fanli F; Jing, Xiaohong X; Samoila, Aliaksandra A; Bale, Tejus A TA; Tsui, Dana W Y DWY; Grommes, Christian C; Viale, Agnes A; Souweidane, Mark M MM; Tabar, Viviane V; Brennan, Cameron W CW; Reiner, Anne S AS; Rosenblum, Marc M; Panageas, Katherine S KS; DeAngelis, Lisa M LM; Young, Robert J RJ; Berger, Michael F MF; Mellinghoff, Ingo K IK

Publication Date: 2019-01

Variant appearance in text: MLH1: 121G>A; D41N

PubMed Link: 30675060

Variant Present in the following documents:

• NIHMS1516901-supplement-Sup_Table_5.xlsx, sheet 1

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