Publications:

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Comprehensive investigating of MMR gene in hepatocellular carcinoma with chronic hepatitis B virus infection in Han Chinese population.

Frontiers In Oncology

Ma, Ning N; Jin, Ao A; Sun, Yitong Y; Jin, Yiyao Y; Sun, Yucheng Y; Xiao, Qian Q; Sha, XuanYi X; Yu, Fengxue F; Yang, Lei L; Liu, Wenxuan W; Gao, Xia X; Zhang, Xiaolin X; Li, Lu L

Publication Date: 2023

Variant appearance in text: rs1805355

PubMed Link: 37035153

Variant Present in the following documents:

• Main text
• fonc-13-1124459.pdf

View BVdb publication page

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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: MSH3: P231P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: MSH3: P231P

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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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: MSH3: 693G>A; Pro231=; rs1805355

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: MSH3: 693G>A; P231P; rs1805355

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: MSH3: Pro231Pro; rs1805355

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs1805355

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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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: MSH3: 693G>A; Pro231Pro; rs1805355

PubMed Link: 32756484

Variant Present in the following documents:

• Main text
• ijms-21-05561.pdf

View BVdb publication page

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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: MSH3: 693G>A; rs1805355

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.

Frontiers In Genetics

Simba, Hannah H; Kuivaniemi, Helena H; Lutje, Vittoria V; Tromp, Gerard G; Sewram, Vikash V

Publication Date: 2019

Variant appearance in text: MSH3: Pro231Pro; rs1805355

PubMed Link: 31428123

Variant Present in the following documents:

• Main text
• fgene-10-00642.pdf

View BVdb publication page

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Circulating Biomarkers for Prediction of Objective Response to Chemotherapy in Pancreatic Cancer Patients.

Cancers

van der Sijde, Fleur F; Vietsch, Eveline E EE; Mustafa, Dana A M DAM; Besselink, Marc G MG; Groot Koerkamp, Bas B; van Eijck, Casper H J CHJ

Publication Date: 2019-01-15

Variant appearance in text: MSH3: P231P

PubMed Link: 30650521

Variant Present in the following documents:

• Main text
• cancers-11-00093.pdf

View BVdb publication page

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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: MSH3: 693G>A; rs1805355

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and Characterization of gc-006-03, a Novel Human Signet Ring Cell Gastric Cancer Cell Line Derived from Metastatic Ascites.

Journal Of Cancer

Su, Xinyu X; Xue, Yiqi Y; Wei, Jingsun J; Huo, Xinying X; Gong, Yang Y; Zhang, Honghong H; Han, Rongbo R; Chen, Yuetong Y; Chen, Hong H; Chen, Jinfei J

Publication Date: 2018

Variant appearance in text: rs1805355

PubMed Link: 30271482

Variant Present in the following documents:

• Main text
• jcav09p3236.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: MSH3: 693G>A; P231P; rs1805355

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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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: MSH3: P231P

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s004.xlsx, sheet 1

View BVdb publication page

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The Association of Low-Penetrance Variants in DNA Repair Genes with Colorectal Cancer: A Systematic Review and Meta-Analysis.

Clinical And Translational Gastroenterology

Aggarwal, Nikhil N; Donald, Neil D ND; Malik, Salim S; Selvendran, Subothini S SS; McPhail, Mark Jw MJ; Monahan, Kevin J KJ

Publication Date: 2017-07-27

Variant appearance in text: rs1805355

PubMed Link: 28749454

Variant Present in the following documents:

• ctg201735x1.pdf

View BVdb publication page

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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: rs1805355

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1805355

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Novel Implications in Molecular Diagnosis of Lynch Syndrome.

Gastroenterology Research And Practice

Liccardo, Raffaella R; De Rosa, Marina M; Izzo, Paola P; Duraturo, Francesca F

Publication Date: 2017

Variant appearance in text: MSH3: 693G>A

PubMed Link: 28250766

Variant Present in the following documents:

• Main text
• GRP2017-2595098.pdf

View BVdb publication page

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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: MSH3: P231P; rs1805355

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 11

View BVdb publication page

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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

American Journal Of Human Genetics

Adam, Ronja R; Spier, Isabel I; Zhao, Bixiao B; Kloth, Michael M; Marquez, Jonathan J; Hinrichsen, Inga I; Kirfel, Jutta J; Tafazzoli, Aylar A; Horpaopan, Sukanya S; Uhlhaas, Siegfried S; Stienen, Dietlinde D; Friedrichs, Nicolaus N; Altmüller, Janine J; Laner, Andreas A; Holzapfel, Stefanie S; Peters, Sophia S; Kayser, Katrin K; Thiele, Holger H; Holinski-Feder, Elke E; Marra, Giancarlo G; Kristiansen, Glen G; Nöthen, Markus M MM; Büttner, Reinhard R; Möslein, Gabriela G; Betz, Regina C RC; Brieger, Angela A; Lifton, Richard P RP; Aretz, Stefan S

Publication Date: 2016-08-04

Variant appearance in text: rs1805355

PubMed Link: 27476653

Variant Present in the following documents:

• Main text

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: MSH3: P231P

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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Impact of Polymorphic Variations of Gemcitabine Metabolism, DNA Damage Repair, and Drug-Resistance Genes on the Effect of High-Dose Chemotherapy for Relapsed or Refractory Lymphoid Malignancies.

Biology Of Blood And Marrow Transplantation : Journal Of The American Society For Blood And Marrow Transplantation

Shinozuka, Keiji K; Tang, Hongwei H; Jones, Roy B RB; Li, Donghui D; Nieto, Yago Y

Publication Date: 2016-05

Variant appearance in text: N/A

PubMed Link: 26743341

Variant Present in the following documents:

View BVdb publication page

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MSH3 rs26279 polymorphism increases cancer risk: a meta-analysis.

International Journal Of Clinical And Experimental Pathology

Miao, Hui-Kai HK; Chen, Li-Ping LP; Cai, Dong-Ping DP; Kong, Wei-Ju WJ; Xiao, Li L; Lin, Jie J

Publication Date: 2015

Variant appearance in text: rs1805355

PubMed Link: 26617824

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MSH3: P231P; rs1805355

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: MSH3: P231P; rs1805355

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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A replication study and genome-wide scan of single-nucleotide polymorphisms associated with pancreatic cancer risk and overall survival.

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

Willis, Jason A JA; Olson, Sara H SH; Orlow, Irene I; Mukherjee, Semanti S; McWilliams, Robert R RR; Kurtz, Robert C RC; Klein, Robert J RJ

Publication Date: 2012-07-15

Variant appearance in text: rs1805355

PubMed Link: 22665904

Variant Present in the following documents:

• Main text

View BVdb publication page

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The cumulative effects of polymorphisms in the DNA mismatch repair genes and tobacco smoking in oesophageal cancer risk.

Plos One

Vogelsang, Matjaz M; Wang, Yabing Y; Veber, Nika N; Mwapagha, Lamech M LM; Parker, M Iqbal MI

Publication Date: 2012

Variant appearance in text: MSH3: 693G>A; Pro231Pro; rs1805355

PubMed Link: 22623965

Variant Present in the following documents:

• Main text
• pone.0036962.pdf
• pone.0036962.s002.pdf

View BVdb publication page

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Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One

Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E

Publication Date: 2011

Variant appearance in text: rs1805355

PubMed Link: 21695249

Variant Present in the following documents:

• pone.0018158.s001.xls, sheet 5

View BVdb publication page

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Significant associations of mismatch repair gene polymorphisms with clinical outcome of pancreatic cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Dong, Xiaoqun X; Jiao, Li L; Li, Yanan Y; Evans, Douglas B DB; Wang, Huamin H; Hess, Kenneth R KR; Abbruzzese, James L JL; Li, Donghui D

Publication Date: 2009-04-01

Variant appearance in text: N/A

PubMed Link: 19237629

Variant Present in the following documents:

View BVdb publication page

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Mismatch repair gene MSH3 polymorphism is associated with the risk of sporadic prostate cancer.

The Journal Of Urology

Hirata, Hiroshi H; Hinoda, Yuji Y; Kawamoto, Ken K; Kikuno, Nobuyuki N; Suehiro, Yutaka Y; Okayama, Naoko N; Tanaka, Yuichiro Y; Dahiya, Rajvir R

Publication Date: 2008-05

Variant appearance in text: rs1805355

PubMed Link: 18355840

Variant Present in the following documents:

• Main text

View BVdb publication page

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