MSH6 c.276A>G ;(p.P92=)

Variant ID: 2-48018081-A-G

NM_000179.2(MSH6):c.276A>G;(p.P92=)

This variant was identified in 46 publications

View GRCh38 version.




Publications:


APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: MSH6: 276A>G
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
  • media-8.xlsx, sheet 1
View BVdb publication page



Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.

Journal Of Molecular Cell Biology
Varinelli, Luca L; Guaglio, Marcello M; Brich, Silvia S; Zanutto, Susanna S; Belfiore, Antonino A; Zanardi, Federica F; Iannelli, Fabio F; Oldani, Amanda A; Costa, Elisa E; Chighizola, Matteo M; Lorenc, Ewelina E; Minardi, Simone P SP; Fortuzzi, Stefano S; Filugelli, Martina M; Garzone, Giovanna G; Pisati, Federica F; Vecchi, Manuela M; Pruneri, Giancarlo G; Kusamura, Shigeki S; Baratti, Dario D; Cattaneo, Laura L; Parazzoli, Dario D; Podestà, Alessandro A; Milione, Massimo M; Deraco, Marcello M; Pierotti, Marco A MA; Gariboldi, Manuela M
Publication Date: 2022-12-02

Variant appearance in text: MSH6: P92P
PubMed Link: 36460033
Variant Present in the following documents:
  • mjac064_supplemental_file.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: MSH6: P92P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: MSH6: P92P
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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: MSH6: P92P; rs1800932
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: MSH6: 276A>G; P92P; rs1800932
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MSH6: 276A>G; Pro92=; rs1800932
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 3
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: MSH6: 276A>G; Pro92=; rs1800932
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: MSH6: 276A>G; P92P; rs1800932
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03

Variant appearance in text: MSH6: 276A>G; Pro92Pro; rs1800932
PubMed Link: 33402737
Variant Present in the following documents:
  • 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020

Variant appearance in text: MSH6: 276A>G; Pro92=
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

International Journal Of Molecular Sciences
Caja, Fabian F; Vodickova, Ludmila L; Kral, Jan J; Vymetalkova, Veronika V; Naccarati, Alessio A; Vodicka, Pavel P
Publication Date: 2020-08-03

Variant appearance in text: MSH6: 276A>G; Pro92Pro; rs1800932
PubMed Link: 32756484
Variant Present in the following documents:
  • Main text
  • ijms-21-05561.pdf
View BVdb publication page



Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene
Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N
Publication Date: 2020-05

Variant appearance in text: MSH6: P92P; rs1800932
PubMed Link: 32300177
Variant Present in the following documents:
  • 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The pan-cancer landscape of prognostic germline variants in 10,582 patients.

Genome Medicine
Chatrath, Ajay A; Przanowska, Roza R; Kiran, Shashi S; Su, Zhangli Z; Saha, Shekhar S; Wilson, Briana B; Tsunematsu, Takaaki T; Ahn, Ji-Hye JH; Lee, Kyung Yong KY; Paulsen, Teressa T; Sobierajska, Ewelina E; Kiran, Manjari M; Tang, Xiwei X; Li, Tianxi T; Kumar, Pankaj P; Ratan, Aakrosh A; Dutta, Anindya A
Publication Date: 2020-02-17

Variant appearance in text: rs1800932
PubMed Link: 32066500
Variant Present in the following documents:
  • Main text
  • 13073_2020_Article_718.pdf
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: MSH6: 276A>G; rs1800932
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J
Publication Date: 2020-08

Variant appearance in text: MSH6: P92P; rs1800932
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: MSH6: 276A>G; Pro92=; rs1800932
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: MSH6: P92P; rs1800932
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: MSH6: P92P; rs1800932
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Integrating genome-wide association and eQTLs studies identifies the genes associated with age at menarche and age at natural menopause.

Plos One
Wang, Gang G; Lv, Jian J; Qiu, Xiaoxin X; An, Yujun Y
Publication Date: 2019

Variant appearance in text: rs1800932
PubMed Link: 31206546
Variant Present in the following documents:
  • Main text
  • pone.0213953.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: MSH6: 276A>G
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
  • 41467_2019_10489_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs1800932
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16

Variant appearance in text: MSH6: P92P; rs1800932
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Publication Date: 2018

Variant appearance in text: MSH6: P92P
PubMed Link: 29649263
Variant Present in the following documents:
  • pone.0195761.s005.xlsx, sheet 1
View BVdb publication page



Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

International Journal Of Molecular Sciences
Liccardo, Raffaella R; De Rosa, Marina M; Rossi, Giovanni Battista GB; Carlomagno, Nicola N; Izzo, Paola P; Duraturo, Francesca F
Publication Date: 2017-05-06

Variant appearance in text: MSH6: 276A>G; rs1800932
PubMed Link: 28481244
Variant Present in the following documents:
  • Main text
  • ijms-18-00999.pdf
View BVdb publication page



A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Scientific Reports
Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E
Publication Date: 2017-01-04

Variant appearance in text: MSH6: 276A>G; rs1800932
PubMed Link: 28051113
Variant Present in the following documents:
  • srep39348-s1.pdf
View BVdb publication page



Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget
Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-01-31

Variant appearance in text: MSH6: P92P; rs1800932
PubMed Link: 28002797
Variant Present in the following documents:
  • oncotarget-08-7852-s002.xlsx, sheet 13
View BVdb publication page



Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Journal Of Gastrointestinal Oncology
Wheeler, Scott R SR; Shi, Chanjuan C; Holt, Jonathan A JA; Vnencak-Jones, Cindy L CL
Publication Date: 2016-06

Variant appearance in text: MSH6: 276A>G
PubMed Link: 27284491
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Chinese Journal Of Cancer
Disciglio, Vittoria V; Devecchi, Andrea A; Palumbo, Orazio O; Carella, Massimo M; Penso, Donata D; Milione, Massimo M; Valle, Giorgio G; Pierotti, Marco Alessandro MA; Vitellaro, Marco M; Bertario, Lucio L; Canevari, Silvana S; Signoroni, Stefano S; De Cecco, Loris L
Publication Date: 2016-06-07

Variant appearance in text: MSH6: 276A>G; rs1800932
PubMed Link: 27267075
Variant Present in the following documents:
  • 40880_2016_115_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Impact of DNA mismatch repair system alterations on human fertility and related treatments.

Journal Of Zhejiang University. Science. B
Hu, Min-hao MH; Liu, Shu-yuan SY; Wang, Ning N; Wu, Yan Y; Jin, Fan F
Publication Date: 2016-01

Variant appearance in text: rs1800932
PubMed Link: 26739522
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: MSH6: P92P; rs1800932
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Nature Genetics
Day, Felix R FR; Ruth, Katherine S KS; Thompson, Deborah J DJ; Lunetta, Kathryn L KL; Pervjakova, Natalia N; Chasman, Daniel I DI; Stolk, Lisette L; Finucane, Hilary K HK; Sulem, Patrick P; Bulik-Sullivan, Brendan B; Esko, Tõnu T; Johnson, Andrew D AD; Elks, Cathy E CE; Franceschini, Nora N; He, Chunyan C; Altmaier, Elisabeth E; Brody, Jennifer A JA; Franke, Lude L LL; Huffman, Jennifer E JE; Keller, Margaux F MF; McArdle, Patrick F PF; Nutile, Teresa T; Porcu, Eleonora E; Robino, Antonietta A; Rose, Lynda M LM; Schick, Ursula M UM; Smith, Jennifer A JA; Teumer, Alexander A; Traglia, Michela M; Vuckovic, Dragana D; Yao, Jie J; Zhao, Wei W; Albrecht, Eva E; Amin, Najaf N; Corre, Tanguy T; Hottenga, Jouke-Jan JJ; Mangino, Massimo M; Smith, Albert V AV; Tanaka, Toshiko T; Abecasis, Goncalo G; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antoniou, Antonis C AC; Arndt, Volker V; Arnold, Alice M AM; Barbieri, Caterina C; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bernstein, Leslie L; Bielinski, Suzette J SJ; Blomqvist, Carl C; Boerwinkle, Eric E; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Borresen-Dale, Anne-Lise AL; Boutin, Thibaud S TS; Brauch, Hiltrud H; Brenner, Hermann H; Brüning, Thomas T; Burwinkel, Barbara B; Campbell, Archie A; Campbell, Harry H; Chanock, Stephen J SJ; Chapman, J Ross JR; Chen, Yii-Der Ida YI; Chenevix-Trench, Georgia G; Couch, Fergus J FJ; Coviello, Andrea D AD; Cox, Angela A; Czene, Kamila K; Darabi, Hatef H; De Vivo, Immaculata I; Demerath, Ellen W EW; Dennis, Joe J; Devilee, Peter P; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dunning, Alison M AM; Eicher, John D JD; Fasching, Peter A PA; Faul, Jessica D JD; Figueroa, Jonine J; Flesch-Janys, Dieter D; Gandin, Ilaria I; Garcia, Melissa E ME; García-Closas, Montserrat M; Giles, Graham G GG; Girotto, Giorgia G GG; Goldberg, Mark S MS; González-Neira, Anna A; Goodarzi, Mark O MO; Grove, Megan L ML; Gudbjartsson, Daniel F DF; Guénel, Pascal P; Guo, Xiuqing X; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Henderson, Brian E BE; Hocking, Lynne J LJ; Hofman, Albert A; Homuth, Georg G; Hooning, Maartje J MJ; Hopper, John L JL; Hu, Frank B FB; Huang, Jinyan J; Humphreys, Keith K; Hunter, David J DJ; Jakubowska, Anna A; Jones, Samuel E SE; Kabisch, Maria M; Karasik, David D; Knight, Julia A JA; Kolcic, Ivana I; Kooperberg, Charles C; Kosma, Veli-Matti VM; Kriebel, Jennifer J; Kristensen, Vessela V; Lambrechts, Diether D; Langenberg, Claudia C; Li, Jingmei J; Li, Xin X; Lindström, Sara S; Liu, Yongmei Y; Luan, Jian'an J; Lubinski, Jan J; Mägi, Reedik R; Mannermaa, Arto A; Manz, Judith J; Margolin, Sara S; Marten, Jonathan J; Martin, Nicholas G NG; Masciullo, Corrado C; Meindl, Alfons A; Michailidou, Kyriaki K; Mihailov, Evelin E; Milani, Lili L; Milne, Roger L RL; Müller-Nurasyid, Martina M; Nalls, Michael M; Neale, Ben M BM; Nevanlinna, Heli H; Neven, Patrick P; Newman, Anne B AB; Nordestgaard, Børge G BG; Olson, Janet E JE; Padmanabhan, Sandosh S; Peterlongo, Paolo P; Peters, Ulrike U; Petersmann, Astrid A; Peto, Julian J; Pharoah, Paul D P PDP; Pirastu, Nicola N NN; Pirie, Ailith A; Pistis, Giorgio G; Polasek, Ozren O; Porteous, David D; Psaty, Bruce M BM; Pylkäs, Katri K; Radice, Paolo P; Raffel, Leslie J LJ; Rivadeneira, Fernando F; Rudan, Igor I; Rudolph, Anja A; Ruggiero, Daniela D; Sala, Cinzia F CF; Sanna, Serena S; Sawyer, Elinor J EJ; Schlessinger, David D; Schmidt, Marjanka K MK; Schmidt, Frank F; Schmutzler, Rita K RK; Schoemaker, Minouk J MJ; Scott, Robert A RA; Seynaeve, Caroline M CM; Simard, Jacques J; Sorice, Rossella R; Southey, Melissa C MC; Stöckl, Doris D; Strauch, Konstantin K; Swerdlow, Anthony A; Taylor, Kent D KD; Thorsteinsdottir, Unnur U; Toland, Amanda E AE; Tomlinson, Ian I; Truong, Thérèse T; Tryggvadottir, Laufey L; Turner, Stephen T ST; Vozzi, Diego D; Wang, Qin Q; Wellons, Melissa M; Willemsen, Gonneke G; Wilson, James F JF; Winqvist, Robert R; Wolffenbuttel, Bruce B H R BBHR; Wright, Alan F AF; Yannoukakos, Drakoulis D; Zemunik, Tatijana T; Zheng, Wei W; Zygmunt, Marek M; Bergmann, Sven S; Boomsma, Dorret I DI; Buring, Julie E JE; Ferrucci, Luigi L; Montgomery, Grant W GW; Gudnason, Vilmundur V; Spector, Tim D TD; van Duijn, Cornelia M CM; Alizadeh, Behrooz Z BZ; Ciullo, Marina M; Crisponi, Laura L; Easton, Douglas F DF; Gasparini, Paolo P PP; Gieger, Christian C; Harris, Tamara B TB; Hayward, Caroline C; Kardia, Sharon L R SLR; Kraft, Peter P; McKnight, Barbara B; Metspalu, Andres A; Morrison, Alanna C AC; Reiner, Alex P AP; Ridker, Paul M PM; Rotter, Jerome I JI; Toniolo, Daniela D; Uitterlinden, André G AG; Ulivi, Sheila S; Völzke, Henry H; Wareham, Nicholas J NJ; Weir, David R DR; Yerges-Armstrong, Laura M LM; , ; , ; , ; , ; , ; , ; Price, Alkes L AL; Stefansson, Kari K; Visser, Jenny A JA; Ong, Ken K KK; Chang-Claude, Jenny J; Murabito, Joanne M JM; Perry, John R B JRB; Murray, Anna A
Publication Date: 2015-11

Variant appearance in text: rs1800932
PubMed Link: 26414677
Variant Present in the following documents:
  • Main text
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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: MSH6: P92P; rs1800932
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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A study of molecular signals deregulating mismatch repair genes in prostate cancer compared to benign prostatic hyperplasia.

Plos One
Basu, Sanmitra S; Majumder, Subhadipa S; Bhowal, Ankur A; Ghosh, Alip A; Naskar, Sukla S; Nandy, Sumit S; Mukherjee, Subhabrata S; Sinha, Rajan Kumar RK; Basu, Keya K; Karmakar, Dilip D; Banerjee, Soma S; Sengupta, Sanghamitra S
Publication Date: 2015

Variant appearance in text: rs1800932
PubMed Link: 25938433
Variant Present in the following documents:
  • Main text
  • pone.0125560.pdf
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Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: MSH6: P92P; rs1800932
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

Molecular Genetics & Genomic Medicine
Hansen, Maren F MF; Neckmann, Ulrike U; Lavik, Liss A S LA; Vold, Trine T; Gilde, Bodil B; Toft, Ragnhild K RK; Sjursen, Wenche W
Publication Date: 2014-03

Variant appearance in text: MSH6: 276A>G; rs1800932
PubMed Link: 24689082
Variant Present in the following documents:
  • Main text
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DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.

Human Molecular Genetics
Perry, John R B JR; Hsu, Yi-Hsiang YH; Chasman, Daniel I DI; Johnson, Andrew D AD; Elks, Cathy C; Albrecht, Eva E; Andrulis, Irene L IL; Beesley, Jonathan J; Berenson, Gerald S GS; Bergmann, Sven S; Bojesen, Stig E SE; Bolla, Manjeet K MK; Brown, Judith J; Buring, Julie E JE; Campbell, Harry H; Chang-Claude, Jenny J; Chenevix-Trench, Georgia G; Corre, Tanguy T; Couch, Fergus J FJ; Cox, Angela A; Czene, Kamila K; D'adamo, Adamo Pio AP; Davies, Gail G; Deary, Ian J IJ; Dennis, Joe J; Easton, Douglas F DF; Engelhardt, Ellen G EG; Eriksson, Johan G JG; Esko, Tõnu T; Fasching, Peter A PA; Figueroa, Jonine D JD; Flyger, Henrik H; Fraser, Abigail A; Garcia-Closas, Montse M; Gasparini, Paolo P; Gieger, Christian C; Giles, Graham G; Guenel, Pascal P; Hägg, Sara S; Hall, Per P; Hayward, Caroline C; Hopper, John J; Ingelsson, Erik E; , ; Kardia, Sharon L R SL; Kasiman, Katherine K; Knight, Julia A JA; Lahti, Jari J; Lawlor, Debbie A DA; Magnusson, Patrik K E PK; Margolin, Sara S; Marsh, Julie A JA; Metspalu, Andres A; Olson, Janet E JE; Pennell, Craig E CE; Polasek, Ozren O; Rahman, Iffat I; Ridker, Paul M PM; Robino, Antonietta A; Rudan, Igor I; Rudolph, Anja A; Salumets, Andres A; Schmidt, Marjanka K MK; Schoemaker, Minouk J MJ; Smith, Erin N EN; Smith, Jennifer A JA; Southey, Melissa M; Stöckl, Doris D; Swerdlow, Anthony J AJ; Thompson, Deborah J DJ; Truong, Therese T; Ulivi, Sheila S; Waldenberger, Melanie M; Wang, Qin Q; Wild, Sarah S; Wilson, James F JF; Wright, Alan F AF; Zgaga, Lina L; , ; Ong, Ken K KK; Murabito, Joanne M JM; Karasik, David D; Murray, Anna A
Publication Date: 2014-05-01

Variant appearance in text: rs1800932
PubMed Link: 24357391
Variant Present in the following documents:
  • Main text
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Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

Plos One
De Lellis, Laura L; Aceto, Gitana Maria GM; Curia, Maria Cristina MC; Catalano, Teresa T; Mammarella, Sandra S; Veschi, Serena S; Fantini, Fabiana F; Battista, Pasquale P; Stigliano, Vittoria V; Messerini, Luca L; Mareni, Cristina C; Sala, Paola P; Bertario, Lucio L; Radice, Paolo P; Cama, Alessandro A
Publication Date: 2013

Variant appearance in text: MSH6: 276A>G; rs1800932
PubMed Link: 24278394
Variant Present in the following documents:
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customProDB: an R package to generate customized protein databases from RNA-Seq data for proteomics search.

Bioinformatics (Oxford, England)
Wang, Xiaojing X; Zhang, Bing B
Publication Date: 2013-12-15

Variant appearance in text: rs1800932
PubMed Link: 24058055
Variant Present in the following documents:
  • supp_btt543_supplementary_file1_customProDB.pdf
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Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.

Plos One
Picelli, Simone S; Lorenzo Bermejo, Justo J; Chang-Claude, Jenny J; Hoffmeister, Michael M; Fernández-Rozadilla, Ceres C; Carracedo, Angel A; Castells, Antoni A; Castellví-Bel, Sergi S; , ; Naccarati, Alessio A; Pardini, Barbara B; Vodickova, Ludmila L; Müller, Heiko H; Talseth-Palmer, Bente A BA; Stibbard, Geoffrey G; Peterlongo, Paolo P; Nici, Carmela C; Veneroni, Silvia S; Li, Li L; Casey, Graham G; Tenesa, Albert A; Farrington, Susan M SM; Tomlinson, Ian I; Moreno, Victor V; van Wezel, Tom T; Wijnen, Juul J; Dunlop, Malcolm M; Radice, Paolo P; Scott, Rodney J RJ; Vodicka, Pavel P; Ruiz-Ponte, Clara C; Brenner, Hermann H; Buch, Stephan S; Völzke, Henry H; Hampe, Jochen J; Schafmayer, Clemens C; Lindblom, Annika A
Publication Date: 2013

Variant appearance in text: MSH6: P92P; rs1800932
PubMed Link: 24039736
Variant Present in the following documents:
  • Main text
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DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.

International Journal Of Molecular Epidemiology And Genetics
Doherty, Jennifer A JA; Sakoda, Lori C LC; Loomis, Melissa M MM; Barnett, Matt J MJ; Julianto, Liberto L; Thornquist, Mark D MD; Neuhouser, Marian L ML; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C
Publication Date: 2013

Variant appearance in text: rs1800932
PubMed Link: 23565320
Variant Present in the following documents:
  • Main text
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Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

Clinical Genetics
Raskin, L L; Schwenter, F F; Freytsis, M M; Tischkowitz, M M; Wong, N N; Chong, G G; Narod, S A SA; Levine, D A DA; Bogomolniy, F F; Aronson, M M; Thibodeau, S N SN; Hunt, K S KS; Rennert, G G; Gallinger, S S; Gruber, S B SB; Foulkes, W D WD
Publication Date: 2011-06

Variant appearance in text: rs1800932
PubMed Link: 21155762
Variant Present in the following documents:
  • Main text
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Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

Bmc Cancer
Thodi, Georgia G; Fostira, Florentia F; Sandaltzopoulos, Raphael R; Nasioulas, George G; Grivas, Anastasios A; Boukovinas, Ioannis I; Mylonaki, Maria M; Panopoulos, Christos C; Magic, Mirjana Brankovic MB; Fountzilas, George G; Yannoukakos, Drakoulis D
Publication Date: 2010-10-11

Variant appearance in text: MSH6: 276A>G; Pro92Pro
PubMed Link: 20937110
Variant Present in the following documents:
  • Main text
  • 1471-2407-10-544.pdf
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Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.

Plos One
Schildkraut, Joellen M JM; Iversen, Edwin S ES; Wilson, Melanie A MA; Clyde, Merlise A MA; Moorman, Patricia G PG; Palmieri, Rachel T RT; Whitaker, Regina R; Bentley, Rex C RC; Marks, Jeffrey R JR; Berchuck, Andrew A
Publication Date: 2010-04-08

Variant appearance in text: rs1800932
PubMed Link: 20386703
Variant Present in the following documents:
  • Main text
  • pone.0010061.pdf
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Mismatch repair deficiency does not mediate clinical resistance to temozolomide in malignant glioma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Maxwell, Jill A JA; Johnson, Stewart P SP; McLendon, Roger E RE; Lister, David W DW; Horne, Krystle S KS; Rasheed, Ahmed A; Quinn, Jennifer A JA; Ali-Osman, Francis F; Friedman, Allan H AH; Modrich, Paul L PL; Bigner, Darell D DD; Friedman, Henry S HS
Publication Date: 2008-08-01

Variant appearance in text: N/A
PubMed Link: 18676759
Variant Present in the following documents:
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Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

The Journal Of Molecular Diagnostics : Jmd
Hegde, Madhuri M; Blazo, Maria M; Chong, Belinda B; Prior, Tom T; Richards, Carolyn C
Publication Date: 2005-10

Variant appearance in text: N/A
PubMed Link: 16237223
Variant Present in the following documents:
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