MSH3 c.199_207del ;(p.P67_P69del)

Variant ID: 5-79950741-GCCCCCAGCT-G

NM_002439.4(MSH3):c.199_207del;(p.P67_P69del)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: MSH3: 196_204del; P67_P69del
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28

Variant appearance in text: MSH3: 199_207del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: MSH3: 196_204del
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04

Variant appearance in text: MSH3: 196_204del
PubMed Link: 35246273
Variant Present in the following documents:
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mismatch Repair Deficiency and Somatic Mutations in Human Sinonasal Tumors.

Cancers
Hieggelke, Lena L; Heydt, Carina C; Castiglione, Roberta R; Rehker, Jan J; Merkelbach-Bruse, Sabine S; Riobello, Cristina C; Llorente, José Luis JL; Hermsen, Mario A MA; Buettner, Reinhard R
Publication Date: 2021-12-02

Variant appearance in text: MSH3: 196_204del; P67_P69del
PubMed Link: 34885191
Variant Present in the following documents:
  • Main text
  • cancers-13-06081.pdf
View BVdb publication page



Mismatch Repair Deficiency and Somatic Mutations in Human Sinonasal Tumors.

Cancers
Hieggelke, Lena L; Heydt, Carina C; Castiglione, Roberta R; Rehker, Jan J; Merkelbach-Bruse, Sabine S; Riobello, Cristina C; Llorente, José Luis JL; Hermsen, Mario A MA; Buettner, Reinhard R
Publication Date: 2021-12-02

Variant appearance in text: MSH3: 196_204del; P67_P69del
PubMed Link: 34885191
Variant Present in the following documents:
  • Main text
  • cancers-13-06081.pdf
View BVdb publication page



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: MSH3: 199_207del; P67_P69del
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.

Nature Communications
Laabs, Björn-Hergen BH; Klein, Christine C; Pozojevic, Jelena J; Domingo, Aloysius A; Brüggemann, Norbert N; Grütz, Karen K; Rosales, Raymond L RL; Jamora, Roland Dominic RD; Saranza, Gerard G; Diesta, Cid Czarina E CCE; Wittig, Michael M; Schaake, Susen S; Dulovic-Mahlow, Marija M; Quismundo, Jana J; Otto, Pia P; Acuna, Patrick P; Go, Criscely C; Sharma, Nutan N; Multhaupt-Buell, Trisha T; Müller, Ulrich U; Hanssen, Henrike H; Kilpert, Fabian F; Franke, Andre A; Rolfs, Arndt A; Bauer, Peter P; Dobričić, Valerija V; Lohmann, Katja K; Ozelius, Laurie J LJ; Kaiser, Frank J FJ; König, Inke R IR; Westenberger, Ana A
Publication Date: 2021-05-28

Variant appearance in text: MSH3: 199_207del; Pro67_Pro69del
PubMed Link: 34050153
Variant Present in the following documents:
  • Main text
  • 41467_2021_23491_MOESM1_ESM.pdf
  • 41467_2021_23491_MOESM2_ESM.pdf
  • 41467_2021_Article_23491.pdf
View BVdb publication page



Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: MSH3: 196_204delCCCCCAGCT; Pro66_Ala68del
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: MSH3: 196_204del
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Targeting Epidermal Growth Factor Receptor (EGFR) in Pediatric Colorectal Cancer.

Cancers
De Pasquale, Maria Debora MD; Crocoli, Alessandro A; Caldaro, Tamara T; Rinelli, Martina M; Spinelli, Gian Paolo GP; Francalanci, Paola P; Cozza, Raffaele R; Inserra, Alessandro A; Miele, Evelina E
Publication Date: 2020-02-11

Variant appearance in text: MSH3: 196_204del; Pro66_Ala68del
PubMed Link: 32053874
Variant Present in the following documents:
  • Main text
  • cancers-12-00414.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: MSH3: 196_204del
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: MSH3: 199_207delCCAGCTCCC; Pro67_Pro69del
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s8.xls, sheet 4
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: MSH3: 196_204del
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: MSH3: 196_204delCCCCCAGCT
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14

Variant appearance in text: MSH3: 196_204delCCCCCAGCT; Pro66_Ala68del
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.

Cancer Medicine
Talseth-Palmer, Bente A BA; Bauer, Denis C DC; Sjursen, Wenche W; Evans, Tiffany J TJ; McPhillips, Mary M; Proietto, Anthony A; Otton, Geoffrey G; Spigelman, Allan D AD; Scott, Rodney J RJ
Publication Date: 2016-05

Variant appearance in text: MSH3: 199_207del; Pro67_Pro69del
PubMed Link: 26811195
Variant Present in the following documents:
  • Main text
  • CAM4-5-929.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: MSH3: 196_204delCCCCCAGCT
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

Plos One
Yang, Xiaochen X; Wu, Jiong J; Lu, Jingsong J; Liu, Guangyu G; Di, Genhong G; Chen, Canming C; Hou, Yifeng Y; Sun, Menghong M; Yang, Wentao W; Xu, Xiaojing X; Zhao, Ying Y; Hu, Xin X; Li, Daqiang D; Cao, Zhigang Z; Zhou, Xiaoyan X; Huang, Xiaoyan X; Liu, Zhebin Z; Chen, Huan H; Gu, Yanzi Y; Chi, Yayun Y; Yan, Xia X; Han, Qixia Q; Shen, Zhenzhou Z; Shao, Zhimin Z; Hu, Zhen Z
Publication Date: 2015

Variant appearance in text: MSH3: 199_207del; P67_P69del
PubMed Link: 25927356
Variant Present in the following documents:
  • Main text
  • pone.0125571.pdf
View BVdb publication page