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: rs2303428

PubMed Link: 37035153

Variant Present in the following documents:

• Main text
• fonc-13-1124459.pdf

View BVdb publication page

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Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS.

Cancers

Vogelaar, Ingrid P IP; Greer, Stephanie S; Wang, Fan F; Shin, GiWon G; Lau, Billy B; Hu, Yajing Y; Haraldsdottir, Sigurdis S; Alvarez, Rocio R; Hazelett, Dennis D; Nguyen, Peter P; Aguirre, Francesca P FP; Guindi, Maha M; Hendifar, Andrew A; Balcom, Jessica J; Leininger, Anna A; Fairbank, Beth B; Ji, Hanlee H; Hitchins, Megan P MP

Publication Date: 2022-12-30

Variant appearance in text: MSH2: 2006-6T>C; rs2303428

PubMed Link: 36612224

Variant Present in the following documents:

• Main text
• cancers-15-00228.pdf

View BVdb publication page

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The role of DNA mismatch repair in immunotherapy of human cancer.

International Journal Of Biological Sciences

He, Yuchen Y; Zhang, Luyuan L; Zhou, Ruoyu R; Wang, Yumin Y; Chen, Hao H

Publication Date: 2022

Variant appearance in text: rs2303428

PubMed Link: 35541922

Variant Present in the following documents:

• ijbsv18p2821.pdf

View BVdb publication page

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Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?

Child'S Nervous System : Chns : Official Journal Of The International Society For Pediatric Neurosurgery

Harder, Anja A

Publication Date: 2022-04

Variant appearance in text: rs2303428

PubMed Link: 34997843

Variant Present in the following documents:

• Main text
• 381_2021_Article_5436.pdf
• 381_2021_5436_MOESM1_ESM.pdf

View BVdb publication page

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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: rs2303428

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp007.xlsx, sheet 1
• jmedgenet-2021-107886supp003.xlsx, sheet 2
• jmedgenet-2021-107886supp006.xlsx, sheet 2

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: MSH2: 2006-6T>C; rs2303428

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: MSH2: 2006-6T>C; rs2303428

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.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: rs2303428

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: MSH2: 2006-6T>C; rs2303428

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report.

Molecular Cytogenetics

Leone, Paola E PE; Yumiceba, Verónica V; Jijón-Vergara, Ariana A; Pérez-Villa, Andy A; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Guerrero, Santiago S; Guevara-Ramírez, Patricia P; López-Cortés, Andrés A; Zambrano, Ana K AK; Hernández-Rivas, Jesús M JM; García, Juan Luis JL; Paz-Y-Miño, César C

Publication Date: 2020-11-13

Variant appearance in text: rs2303428

PubMed Link: 33292387

Variant Present in the following documents:

• Main text
• 13039_2020_Article_515.pdf

View BVdb publication page

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Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology

Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y

Publication Date: 2020

Variant appearance in text: MSH2: 2006-6T>C; rs2303428

PubMed Link: 33240400

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Quest for New Cancer Diagnosis, Prognosis and Prediction Biomarkers and Their Use in Biosensors Development.

Technology In Cancer Research & Treatment

Ramirez-Valles, Eda G EG; Rodríguez-Pulido, Alicia A; Barraza-Salas, Marcelo M; Martínez-Velis, Isaac I; Meneses-Morales, Iván I; Ayala-García, Víctor M VM; Alba-Fierro, Carlos A CA

Publication Date: 2020

Variant appearance in text: rs2303428

PubMed Link: 33107395

Variant Present in the following documents:

• Main text
• 10.1177_1533033820957033.pdf

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: MSH2: 2006-6T>C; rs2303428

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, 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: rs2303428

PubMed Link: 32756484

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variants in DNA Mismatch Repair Pathway predict prognosis of Lung Cancer patients with receiving Platinum-Based Chemotherapy.

Journal Of Cancer

Liu, Jun-Yan JY; Zou, Ting T; Yin, Ji-Ye JY; Wang, Zhan Z; Wang, Ying Y; Liu, Zhao-Qian ZQ; Chen, Juan J; Chen, Zhi-Wei ZW

Publication Date: 2020

Variant appearance in text: rs2303428

PubMed Link: 32742474

Variant Present in the following documents:

• Main text
• jcav11p5281.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: rs2303428

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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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: rs2303428

PubMed Link: 31660093

Variant Present in the following documents:

• Main text
• 13053_2019_Article_128.pdf

View BVdb publication page

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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: MSH2: 2006-6T>C; rs2303428

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs2303428

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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: MSH2: 2006-6T>C; rs2303428

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: rs2303428

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 6

View BVdb publication page

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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: MSH2: 2006-6T>C; rs2303428

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.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: rs2303428

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: rs2303428

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: rs2303428

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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The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.

Bmc Cancer

Trubicka, Joanna J; Żemojtel, Tomasz T; Hecht, Jochen J; Falana, Katarzyna K; Piekutowska-Abramczuk, Dorota D; Płoski, Rafał R; Perek-Polnik, Marta M; Drogosiewicz, Monika M; Grajkowska, Wiesława W; Ciara, Elżbieta E; Moszczyńska, Elżbieta E; Dembowska-Bagińska, Bożenna B; Perek, Danuta D; Chrzanowska, Krystyna H KH; Krajewska-Walasek, Małgorzata M; Łastowska, Maria M

Publication Date: 2017-04-04

Variant appearance in text: rs2303428

PubMed Link: 28376765

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of DNA repair gene polymorphisms on the risk of biochemical recurrence after radiotherapy and overall survival in prostate cancer.

Oncotarget

Zanusso, Chiara C; Bortolus, Roberto R; Dreussi, Eva E; Polesel, Jerry J; Montico, Marcella M; Cecchin, Erika E; Gagno, Sara S; Rizzolio, Flavio F; Arcicasa, Mauro M; Novara, Giacomo G; Toffoli, Giuseppe G

Publication Date: 2017-04-04

Variant appearance in text: rs2303428

PubMed Link: 28206966

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients.

Chinese Journal Of Cancer

Liu, Jun-Yan JY; Qian, Chen-Yue CY; Gao, Yuan-Feng YF; Chen, Juan J; Zhou, Hong-Hao HH; Yin, Ji-Ye JY

Publication Date: 2017-01-16

Variant appearance in text: rs2303428

PubMed Link: 28093084

Variant Present in the following documents:

• Main text
• 40880_2016_Article_175.pdf

View BVdb publication page

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Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.

Anticancer Research

Kappil, Maya M; Terry, Mary Beth MB; Delgado-Cruzata, Lissette L; Liao, Yuyan Y; Santella, Regina M RM

Publication Date: 2016-09

Variant appearance in text: rs2303428

PubMed Link: 27630279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate germline polymorphisms of genes belonging to the pathways of four drugs used in osteosarcoma standard chemotherapy associated with risk, survival and toxicity in non-metastatic high-grade osteosarcoma.

Oncotarget

Hattinger, Claudia M CM; Biason, Paola P; Iacoboni, Erika E; Gagno, Sara S; Fanelli, Marilù M; Tavanti, Elisa E; Vella, Serena S; Ferrari, Stefano S; Roli, Andrea A; Roncato, Rossana R; Giodini, Luciana L; Scotlandi, Katia K; Picci, Piero P; Toffoli, Giuseppe G; Serra, Massimo M

Publication Date: 2016-09-20

Variant appearance in text: rs2303428

PubMed Link: 27566557

Variant Present in the following documents:

• Main text
• oncotarget-07-61970.pdf

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: rs2303428

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic polymorphisms in DNA repair and oxidative stress pathways may modify the association between body size and postmenopausal breast cancer.

Annals Of Epidemiology

McCullough, Lauren E LE; Eng, Sybil M SM; Bradshaw, Patrick T PT; Cleveland, Rebecca J RJ; Steck, Susan E SE; Terry, Mary Beth MB; Shen, Jing J; Crew, Katherine D KD; Rossner, Pavel P; Ahn, Jiyoung J; Ambrosone, Christine B CB; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Santella, Regina M RM; Gammon, Marilie D MD

Publication Date: 2015-04

Variant appearance in text: rs2303428

PubMed Link: 25703993

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs2303428

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: rs2303428

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

View BVdb publication page

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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: MSH2: 2006-6T>C; rs2303428

PubMed Link: 24689082

Variant Present in the following documents:

• Main text
• mgg30002-0186.pdf

View BVdb publication page

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Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population.

Familial Cancer

Rhees, Jennifer J; Arnold, Mildred M; Boland, C Richard CR

Publication Date: 2014-06

Variant appearance in text: rs2303428

PubMed Link: 24114314

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in DNA repair genes, recreational physical activity and breast cancer risk.

International Journal Of Cancer

McCullough, Lauren E LE; Santella, Regina M RM; Cleveland, Rebecca J RJ; Millikan, Robert C RC; Olshan, Andrew F AF; North, Kari E KE; Bradshaw, Patrick T PT; Eng, Sybil M SM; Terry, Mary Beth MB; Shen, Jing J; Crew, Katherine D KD; Rossner, Pavel P; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Gammon, Marilie D MD

Publication Date: 2014-02-01

Variant appearance in text: rs2303428

PubMed Link: 23852586

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2303428

PubMed Link: 23565320

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.

Clinical Lung Cancer

Kelsey, Chris R CR; Jackson, Isabel L IL; Langdon, Scott S; Owzar, Kouros K; Hubbs, Jessica J; Vujaskovic, Zeljko Z; Das, Shiva S; Marks, Lawrence B LB

Publication Date: 2013-05

Variant appearance in text: rs2303428

PubMed Link: 23313170

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between the hMSH2 IVS12-6 T>C polymorphism and cancer risk: A meta-analysis.

Experimental And Therapeutic Medicine

Wu, Song S; Chen, Jingyu J; Ji, Yong Y; Liu, Yuxin Y; Gao, Lu L; Chen, Guoqiang G; Shen, Kai K; Huang, Bin B

Publication Date: 2011-11

Variant appearance in text: rs2303428

PubMed Link: 22977643

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic susceptibility to therapy-related leukemia after Hodgkin lymphoma or non-Hodgkin lymphoma: role of drug metabolism, apoptosis and DNA repair.

Blood Cancer Journal

Ding, Y Y; Sun, C-L CL; Li, L L; Li, M M; Francisco, L L; Sabado, M M; Hahn, B B; Gyorffy, J J; Noe, J J; Larson, G P GP; Forman, S J SJ; Bhatia, R R; Bhatia, S S

Publication Date: 2012-03

Variant appearance in text: rs2303428

PubMed Link: 22829253

Variant Present in the following documents:

View BVdb publication page

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Polymorphisms of mismatch repair gene hMLH1 and hMSH2 and risk of gastric cancer in a Chinese population.

Oncology Letters

Xiao, Xian-Qiu XQ; Gong, Wei-DA WD; Wang, Shi-Zhi SZ; Zhang, Zheng-Dong ZD; Rui, Xiao-Ping XP; Wu, Guo-Zhong GZ; Ren, Feng F

Publication Date: 2012-03

Variant appearance in text: rs2303428

PubMed Link: 22740958

Variant Present in the following documents:

• Main text

View BVdb publication page

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Endometrial cancer and genetic variation in PTEN, PIK3CA, AKT1, MLH1, and MSH2 within a population-based case-control study.

Gynecologic Oncology

Lacey, James V JV; Yang, Hannah H; Gaudet, Mia M MM; Dunning, Alison A; Lissowska, Jolanta J; Sherman, Mark E ME; Peplonska, Beata B; Brinton, Louise A LA; Healey, Catherine S CS; Ahmed, Shahana S; Pharoah, Paul P; Easton, Douglas D; Chanock, Stephen S; Garcia-Closas, Montserrat M

Publication Date: 2011-02

Variant appearance in text: rs2303428

PubMed Link: 21093899

Variant Present in the following documents:

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Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Plos One

Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS

Publication Date: 2010-08-18

Variant appearance in text: rs2303428

PubMed Link: 20805886

Variant Present in the following documents:

• pone.0012260.s004.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: rs2303428

PubMed Link: 20386703

Variant Present in the following documents:

• Main text

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Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.

Bmc Cancer

Zavodna, Katarina K; Krivulcik, Tomas T; Bujalkova, Maria Gerykova MG; Slamka, Tomas T; Martinicky, David D; Ilencikova, Denisa D; Bartosova, Zdena Z

Publication Date: 2009-11-20

Variant appearance in text: MSH2: 2006-6T>C; rs2303428

PubMed Link: 19930554

Variant Present in the following documents:

• Main text
• 1471-2407-9-405.pdf

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Genetic polymorphisms of EPHX1, Gsk3beta, TNFSF8 and myeloma cell DKK-1 expression linked to bone disease in myeloma.

Leukemia

Durie, B G M BG; Van Ness, B B; Ramos, C C; Stephens, O O; Haznadar, M M; Hoering, A A; Haessler, J J; Katz, M S MS; Mundy, G R GR; Kyle, R A RA; Morgan, G J GJ; Crowley, J J; Barlogie, B B; Shaughnessy, J J

Publication Date: 2009-10

Variant appearance in text: rs2303428

PubMed Link: 19657367

Variant Present in the following documents:

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Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.

European Journal Of Cancer (Oxford, England : 1990)

Mann, Andrea A; Hogdall, Estrid E; Ramus, Susan J SJ; DiCioccio, Richard A RA; Hogdall, Claus C; Quaye, Lydia L; McGuire, Valerie V; Whittemore, Alice S AS; Shah, Mitul M; Greenberg, David D; Easton, Douglas F DF; Ponder, Bruce A J BA; Kjaer, Susanne Krüger SK; Gayther, Simon A SA; Thompson, Deborah J DJ; Pharoah, Paul D P PD; Song, Honglin H

Publication Date: 2008-10

Variant appearance in text: rs2303428

PubMed Link: 18723338

Variant Present in the following documents:

• Main text

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