Publications:

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Combination CDC-like kinase inhibition (CLK)/Dual-specificity tyrosine-regulated kinase (DYRK) and taxane therapy in CTNNB1 -mutated endometrial cancer.

Biorxiv : The Preprint Server For Biology

Corr, Bradley R BR; Moroney, Marisa R MR; Woodruff, Elizabeth E; Watson, Zachary L ZL; Jordan, Kimberly R KR; Danhorn, Thomas T; Bailey, Courtney C; Wolsky, Rebecca J RJ; Bitler, Benjamin G BG

Publication Date: 2023-04-06

Variant appearance in text: MSH6: T1219I

PubMed Link: 37066339

Variant Present in the following documents:

• media-2.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MSH6: 3656C>T; Thr1219Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Pan-cancer clinical impact of latent drivers from double mutations.

Communications Biology

Yavuz, Bengi Ruken BR; Tsai, Chung-Jung CJ; Nussinov, Ruth R; Tuncbag, Nurcan N

Publication Date: 2023-02-20

Variant appearance in text: MSH6: T1219I

PubMed Link: 36808143

Variant Present in the following documents:

• 42003_2023_4519_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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EANO guideline on rational molecular testing of gliomas, glioneuronal and neuronal tumors in adults for targeted therapy selection.

Neuro-Oncology

Capper, David D; Reifenberger, Guido G; French, Pim J PJ; Schweizer, Leonille L; Weller, Michael M; Touat, Mehdi M; Niclou, Simone P SP; Euskirchen, Philipp P; Haberler, Christine C; Hegi, Monika E ME; Brandner, Sebastian S; Le Rhun, Emilie E; Rudà, Roberta R; Sanson, Marc M; Tabatabai, Ghazaleh G; Sahm, Felix F; Wen, Patrick Y PY; Wesseling, Pieter P; Preusser, Matthias M; van den Bent, Martin J MJ

Publication Date: 2023-01-12

Variant appearance in text: MSH6: T1219I

PubMed Link: 36632791

Variant Present in the following documents:

• noad008_suppl_supplementary_material.pdf

View BVdb publication page

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Genetic and pharmacological modulation of DNA mismatch repair heterogeneous tumors promotes immune surveillance.

Cancer Cell

Amodio, Vito V; Lamba, Simona S; Chilà, Rosaria R; Cattaneo, Chiara M CM; Mussolin, Benedetta B; Corti, Giorgio G; Rospo, Giuseppe G; Berrino, Enrico E; Tripodo, Claudio C; Pisati, Federica F; Bartolini, Alice A; Aquilano, Maria Costanza MC; Marsoni, Silvia S; Mauri, Gianluca G; Marchiò, Caterina C; Abrignani, Sergio S; Di Nicolantonio, Federica F; Germano, Giovanni G; Bardelli, Alberto A

Publication Date: 2022-12-21

Variant appearance in text: MSH6: T1219I

PubMed Link: 36584674

Variant Present in the following documents:

• Main text
• main.pdf
• mmc3.pdf

View BVdb publication page

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A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: MSH6: T1219I

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

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Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology

Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,

Publication Date: 2022-09-17

Variant appearance in text: MSH6: 3656C>T; Thr1219Ile; rs63750949

PubMed Link: 36124685

Variant Present in the following documents:

• noac220_suppl_supplementary_table_s3.xlsx, sheet 1

View BVdb publication page

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Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.

Nature Communications

Coy, Shannon S; Wang, Shu S; Stopka, Sylwia A SA; Lin, Jia-Ren JR; Yapp, Clarence C; Ritch, Cecily C CC; Salhi, Lisa L; Baker, Gregory J GJ; Rashid, Rumana R; Baquer, Gerard G; Regan, Michael M; Khadka, Prasidda P; Cole, Kristina A KA; Hwang, Jaeho J; Wen, Patrick Y PY; Bandopadhayay, Pratiti P; Santi, Mariarita M; De Raedt, Thomas T; Ligon, Keith L KL; Agar, Nathalie Y R NYR; Sorger, Peter K PK; Touat, Mehdi M; Santagata, Sandro S

Publication Date: 2022-08-16

Variant appearance in text: MSH6: T1219I

PubMed Link: 35973991

Variant Present in the following documents:

• 41467_2022_32430_MOESM17_ESM.xlsx, sheet 29

View BVdb publication page

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In the literature: July 2022.

Esmo Open

Gambardella, V V; Martinelli, E E; Tarazona, N N; Cervantes, A A

Publication Date: 2022-08

Variant appearance in text: MSH6: T1219I

PubMed Link: 35961192

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine

Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC

Publication Date: 2022-06-16

Variant appearance in text: MSH6: T1219I

PubMed Link: 35706047

Variant Present in the following documents:

• 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: MSH6: T1219I

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: MSH6: 3656C>T; Thr1219Ile

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Importance of Early Next-Generation Sequencing in Microsatellite Unstable Colon Cancer With a High Tumor Mutation Burden.

Cureus

Ashish, Sethi S; Raj, Moses M

Publication Date: 2022-03

Variant appearance in text: MSH6: T1219I

PubMed Link: 35399448

Variant Present in the following documents:

• Main text
• cureus-0014-00000022894.pdf

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: MSH6: T1219I

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: MSH6: T1219I

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis.

Cancer Discovery

Schaettler, Maximilian O MO; Richters, Megan M MM; Wang, Anthony Z AZ; Skidmore, Zachary L ZL; Fisk, Bryan B; Miller, Katherine E KE; Vickery, Tammi L TL; Kim, Albert H AH; Chicoine, Michael R MR; Osbun, Joshua W JW; Leuthardt, Eric C EC; Dowling, Joshua L JL; Zipfel, Gregory J GJ; Dacey, Ralph G RG; Lu, Hsiang-Chih HC; Johanns, Tanner M TM; Griffith, Obi L OL; Mardis, Elaine R ER; Griffith, Malachi M; Dunn, Gavin P GP

Publication Date: 2022-01

Variant appearance in text: MSH6: 3656C>T; Thr1219Ile; rs63750949

PubMed Link: 34610950

Variant Present in the following documents:

• Main text
• cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 75
• 154.pdf
• cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 74
• cd-21-0291_supplementary_figures_suppsf1.pdf

View BVdb publication page

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Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences

Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO

Publication Date: 2021-08-11

Variant appearance in text: MSH6: Thr1219Ile

PubMed Link: 34445333

Variant Present in the following documents:

• Main text
• ijms-22-08627.pdf

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: MSH6: 3656C>T; T1219I

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults.

Neuro-Oncology Advances

Ji, Jianling J; Kaneva, Kristiyana K; Hiemenz, Matthew C MC; Dhall, Girish G; Davidson, Tom Belle TB; Erdreich-Epstein, Anat A; Hawes, Debra D; Hurth, Kyle K; Margol, Ashley S AS; Mathew, Anna J AJ; Robison, Nathan J NJ; Schmidt, Ryan J RJ; Tran, Hung N HN; Judkins, Alexander R AR; Cotter, Jennifer A JA; Biegel, Jaclyn A JA

Publication Date: 2021

Variant appearance in text: MSH6: 3656C>T; Thr1219Ile

PubMed Link: 33948563

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: MSH6: 3656C>T; T1219I

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Spontaneous mutations in the single TTN gene represent high tumor mutation burden.

Npj Genomic Medicine

Oh, Ji-Hye JH; Jang, Se Jin SJ; Kim, Jihun J; Sohn, Insuk I; Lee, Ji-Young JY; Cho, Eun Jeong EJ; Chun, Sung-Min SM; Sung, Chang Ohk CO

Publication Date: 2020

Variant appearance in text: MSH6: 3656C>T

PubMed Link: 32821429

Variant Present in the following documents:

• 41525_2019_107_MOESM1_ESM.pdf

View BVdb publication page

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Mechanisms and therapeutic implications of hypermutation in gliomas.

Nature

Touat, Mehdi M; Li, Yvonne Y YY; Boynton, Adam N AN; Spurr, Liam F LF; Iorgulescu, J Bryan JB; Bohrson, Craig L CL; Cortes-Ciriano, Isidro I; Birzu, Cristina C; Geduldig, Jack E JE; Pelton, Kristine K; Lim-Fat, Mary Jane MJ; Pal, Sangita S; Ferrer-Luna, Ruben R; Ramkissoon, Shakti H SH; Dubois, Frank F; Bellamy, Charlotte C; Currimjee, Naomi N; Bonardi, Juliana J; Qian, Kenin K; Ho, Patricia P; Malinowski, Seth S; Taquet, Leon L; Jones, Robert E RE; Shetty, Aniket A; Chow, Kin-Hoe KH; Sharaf, Radwa R; Pavlick, Dean D; Albacker, Lee A LA; Younan, Nadia N; Baldini, Capucine C; Verreault, Maïté M; Giry, Marine M; Guillerm, Erell E; Ammari, Samy S; Beuvon, Frédéric F; Mokhtari, Karima K; Alentorn, Agusti A; Dehais, Caroline C; Houillier, Caroline C; Laigle-Donadey, Florence F; Psimaras, Dimitri D; Lee, Eudocia Q EQ; Nayak, Lakshmi L; McFaline-Figueroa, J Ricardo JR; Carpentier, Alexandre A; Cornu, Philippe P; Capelle, Laurent L; Mathon, Bertrand B; Barnholtz-Sloan, Jill S JS; Chakravarti, Arnab A; Bi, Wenya Linda WL; Chiocca, E Antonio EA; Fehnel, Katie Pricola KP; Alexandrescu, Sanda S; Chi, Susan N SN; Haas-Kogan, Daphne D; Batchelor, Tracy T TT; Frampton, Garrett M GM; Alexander, Brian M BM; Huang, Raymond Y RY; Ligon, Azra H AH; Coulet, Florence F; Delattre, Jean-Yves JY; Hoang-Xuan, Khê K; Meredith, David M DM; Santagata, Sandro S; Duval, Alex A; Sanson, Marc M; Cherniack, Andrew D AD; Wen, Patrick Y PY; Reardon, David A DA; Marabelle, Aurélien A; Park, Peter J PJ; Idbaih, Ahmed A; Beroukhim, Rameen R; Bandopadhayay, Pratiti P; Bielle, Franck F; Ligon, Keith L KL

Publication Date: 2020-04

Variant appearance in text: MSH6: T1219I

PubMed Link: 32322066

Variant Present in the following documents:

• Main text
• nihms-1572083.pdf
• NIHMS1572083-supplement-1572083_Sup_Tab_4.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: MSH6: T1219I

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.

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

Drost, Mark M; Tiersma, Yvonne Y; Glubb, Dylan D; Kathe, Scott S; van Hees, Sandrine S; Calléja, Fabienne F; Zonneveld, José B M JBM; Boucher, Kenneth M KM; Ramlal, Renuka P E RPE; Thompson, Bryony A BA; Rasmussen, Lene Juel LJ; Greenblatt, Marc S MS; Lee, Andrea A; Spurdle, Amanda B AB; Tavtigian, Sean V SV; de Wind, Niels N

Publication Date: 2020-05

Variant appearance in text: MSH6: T1219I

PubMed Link: 31965077

Variant Present in the following documents:

• 41436_2019_Article_736.pdf

View BVdb publication page

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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: MSH6: 3656C>T; T1219I

PubMed Link: 31857677

Variant Present in the following documents:

• Main text
• nihms-1541744.pdf

View BVdb publication page

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: MSH6: 3656C>T

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic profiling of glioblastoma tumors, BTICs, and xenografts reveals stability and adaptation to growth environments.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Shen, Yaoqing Y; Grisdale, Cameron J CJ; Islam, Sumaiya A SA; Bose, Pinaki P; Lever, Jake J; Zhao, Eric Y EY; Grinshtein, Natalie N; Ma, Yussanne Y; Mungall, Andrew J AJ; Moore, Richard A RA; Lun, Xueqing X; Senger, Donna L DL; Robbins, Stephen M SM; Wang, Alice Yijun AY; MacIsaac, Julia L JL; Kobor, Michael S MS; Luchman, H Artee HA; Weiss, Samuel S; Chan, Jennifer A JA; Blough, Michael D MD; Kaplan, David R DR; Cairncross, J Gregory JG; Marra, Marco A MA; Jones, Steven J M SJM

Publication Date: 2019-09-17

Variant appearance in text: MSH6: T1219I

PubMed Link: 31471491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: MSH6: T1219I; rs63750949

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM3_ESM.xlsx, sheet 17

View BVdb publication page

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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: T1219I

PubMed Link: 28912153

Variant Present in the following documents:

• onco12246.pdf

View BVdb publication page

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Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Plos Genetics

Houlleberghs, Hellen H; Goverde, Anne A; Lusseveld, Jarnick J; Dekker, Marleen M; Bruno, Marco J MJ; Menko, Fred H FH; Mensenkamp, Arjen R AR; Spaander, Manon C W MCW; Wagner, Anja A; Hofstra, Robert M W RMW; Te Riele, Hein H

Publication Date: 2017-05

Variant appearance in text: MSH6: T1219I

PubMed Link: 28531214

Variant Present in the following documents:

• Main text
• pgen.1006765.pdf

View BVdb publication page

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Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine

Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M

Publication Date: 2017-02-02

Variant appearance in text: MSH6: T1219I

PubMed Link: 28153049

Variant Present in the following documents:

• 13073_2017_401_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Association of MSH6 mutation with glioma susceptibility, drug resistance and progression.

Molecular And Clinical Oncology

Xie, Chaoran C; Sheng, Hansong H; Zhang, Nu N; Li, Shiting S; Wei, Xiangyu X; Zheng, Xuesheng X

Publication Date: 2016-08

Variant appearance in text: MSH6: 3656C>T; Thr1219Ile

PubMed Link: 27446556

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MSH6: 3656C>T; T1219I

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Clinical response to everolimus in a patient with Hodgkin's lymphoma harboring a TSC2 mutation.

Blood Cancer Journal

Perini, G F GF; Campregher, P V PV; Ross, J S JS; Ali, S S; Hamerschlak, N N; Santos, F P S FP

Publication Date: 2016-05-13

Variant appearance in text: MSH6: T1219I

PubMed Link: 27176796

Variant Present in the following documents:

• Main text
• bcj201625a.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MSH6: T1219I

PubMed Link: 26206375

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• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: MSH6: T1219I

PubMed Link: 23819521

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• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D).

The Journal Of Biological Chemistry

Geng, Hui H; Sakato, Miho M; DeRocco, Vanessa V; Yamane, Kazuhiko K; Du, Chunwei C; Erie, Dorothy A DA; Hingorani, Manju M; Hsieh, Peggy P

Publication Date: 2012-03-23

Variant appearance in text: MSH6: T1219I

PubMed Link: 22277660

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: MSH6: T1219I

PubMed Link: 21727090

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• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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MSH6 mutations arise in glioblastomas during temozolomide therapy and mediate temozolomide resistance.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Yip, Stephen S; Miao, Jiangyong J; Cahill, Daniel P DP; Iafrate, A John AJ; Aldape, Ken K; Nutt, Catherine L CL; Louis, David N DN

Publication Date: 2009-07-15

Variant appearance in text: MSH6: 3656C>T; Thr1219Ile

PubMed Link: 19584161

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Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

American Journal Of Human Genetics

Berends, Maran J W MJ; Wu, Ying Y; Sijmons, Rolf H RH; Mensink, Rob G J RG; van der Sluis, Tineke T; Hordijk-Hos, Jannet M JM; de Vries, Elisabeth G E EG; Hollema, Harry H; Karrenbeld, Arend A; Buys, Charles H C M CH; van der Zee, Ate G J AG; Hofstra, Robert M W RM; Kleibeuker, Jan H JH

Publication Date: 2002-01

Variant appearance in text: MSH6: Thr1219Ile

PubMed Link: 11709755

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