Publications:

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Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine

Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G

Publication Date: 2022-09-20

Variant appearance in text: MSH2: 1166G>A; R389Q; rs757276241

PubMed Link: 36125633

Variant Present in the following documents:

• CAM4-12-4042-s001.xlsx, sheet 1

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: MSH2: 1166G>A; R389Q

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 1166G>A; R389Q

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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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: MSH2: 1166G>A; Arg389Gln; rs757276241

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

View BVdb publication page

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: MSH2: R389Q

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: R389Q

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications

Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W

Publication Date: 2019-11-07

Variant appearance in text: MSH2: 1166G>A; R389Q

PubMed Link: 31700061

Variant Present in the following documents:

• 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

Plos One

Jansen, Anne M L AM; Geilenkirchen, Marije A MA; van Wezel, Tom T; Jagmohan-Changur, Shantie C SC; Ruano, Dina D; van der Klift, Heleen M HM; van den Akker, Brendy E W M BE; Laros, Jeroen F J JF; van Galen, Michiel M; Wagner, Anja A; Letteboer, Tom G W TG; Gómez-García, Encarna B EB; Tops, Carli M J CM; Vasen, Hans F HF; Devilee, Peter P; Hes, Frederik J FJ; Morreau, Hans H; Wijnen, Juul T JT

Publication Date: 2016

Variant appearance in text: MSH2: 1166G>A; R389Q

PubMed Link: 27300758

Variant Present in the following documents:

• Main text
• pone.0157381.pdf

View BVdb publication page

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Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

European Journal Of Human Genetics : Ejhg

Jansen, Anne Ml AM; van Wezel, Tom T; van den Akker, Brendy Ewm BE; Ventayol Garcia, Marina M; Ruano, Dina D; Tops, Carli Mj CM; Wagner, Anja A; Letteboer, Tom Gw TG; Gómez-García, Encarna B EB; Devilee, Peter P; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H

Publication Date: 2016-07

Variant appearance in text: MSH2: R389Q

PubMed Link: 26648449

Variant Present in the following documents:

• Main text
• ejhg2015252a.pdf

View BVdb publication page

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