MSH6 c.3438+14A>T

Variant ID: 2-48030838-A-T

NM_000179.2(MSH6):c.3438+14A>T

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2020911
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: rs2020911
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.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: 3438+14A>T; rs2020911
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 3
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: MSH6: 3438+14A>T; rs2020911
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2020911
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: 3438+14A>T; rs2020911
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief
Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G
Publication Date: 2021-02

Variant appearance in text: rs2020911
PubMed Link: 33365374
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-31

Variant appearance in text: MSH6: 3438+14A>T
PubMed Link: 32867815
Variant Present in the following documents:
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
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: 3438+14A>T
PubMed Link: 32756484
Variant Present in the following documents:
  • Main text
  • ijms-21-05561.pdf
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: MSH6: 3438+14A>T
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: MSH6: 3438+14A>T
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.

Hereditary Cancer In Clinical Practice
Rashid, Muhammad Usman MU; Naeemi, Humaira H; Muhammad, Noor N; Loya, Asif A; Lubiński, Jan J; Jakubowska, Anna A; Yusuf, Muhammed Aasim MA
Publication Date: 2019

Variant appearance in text: rs2020911
PubMed Link: 31660093
Variant Present in the following documents:
  • Main text
  • 13053_2019_Article_128.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: 3438+14A>T; rs2020911
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019

Variant appearance in text: MSH6: 3438+14A>T
PubMed Link: 30794603
Variant Present in the following documents:
  • pone.0212370.s008.xlsx, sheet 1
View BVdb publication page



Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine
Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V
Publication Date: 2019-03

Variant appearance in text: rs2020911
PubMed Link: 30737087
Variant Present in the following documents:
  • mmc1.xlsx, sheet 9
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs2020911
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: MSH6: 3438+14A>T; rs2020911
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.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: rs2020911
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2020911
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, 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: rs2020911
PubMed Link: 28481244
Variant Present in the following documents:
  • Main text
  • ijms-18-00999.pdf
View BVdb publication page



Lynch syndrome-related small intestinal adenocarcinomas.

Oncotarget
Jun, Sun-Young SY; Lee, Eui-Jin EJ; Kim, Mi-Ju MJ; Chun, Sung Min SM; Bae, Young Kyung YK; Hong, Soon Uk SU; Choi, Jene J; Kim, Joon Mee JM; Jang, Kee-Taek KT; Kim, Jung Yeon JY; Kim, Gwang Il GI; Jung, Soo Jin SJ; Yoon, Ghilsuk G; Hong, Seung-Mo SM
Publication Date: 2017-03-28

Variant appearance in text: MSH6: 3438+14A>T
PubMed Link: 28206961
Variant Present in the following documents:
  • Main text
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: 3438+14A>T; rs2020911
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: rs2020911
PubMed Link: 28002797
Variant Present in the following documents:
  • oncotarget-08-7852-s002.xlsx, sheet 13
  • oncotarget-08-7852-s002.xlsx, sheet 14
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: 3438+14A>T; rs2020911
PubMed Link: 27267075
Variant Present in the following documents:
  • 40880_2016_115_MOESM1_ESM.xlsx, sheet 1
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: rs2020911
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



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: rs2020911
PubMed Link: 25938433
Variant Present in the following documents:
  • Main text
  • pone.0125560.pdf
View BVdb publication page



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: 3438+14A>T; rs2020911
PubMed Link: 24689082
Variant Present in the following documents:
  • Main text
  • mgg30002-0186.pdf
View BVdb publication page



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: 3438+14A>T
PubMed Link: 20937110
Variant Present in the following documents:
  • Main text
  • 1471-2407-10-544.pdf
View BVdb publication page



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: rs2020911
PubMed Link: 20386703
Variant Present in the following documents:
  • Main text
  • pone.0010061.pdf
View BVdb publication page



Association of the FBXO11 gene with chronic otitis media with effusion and recurrent otitis media: the Minnesota COME/ROM Family Study.

Archives Of Otolaryngology--Head & Neck Surgery
Segade, Fernando F; Daly, Kathleen A KA; Allred, Dax D; Hicks, Pamela J PJ; Cox, Miranda M; Brown, Mark M; Hardisty-Hughes, Rachel E RE; Brown, Steve D M SD; Rich, Stephen S SS; Bowden, Donald W DW
Publication Date: 2006-07

Variant appearance in text: rs2020911
PubMed Link: 16847180
Variant Present in the following documents:
  • Main text
View BVdb publication page