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: rs1042821

PubMed Link: 37035153

Variant Present in the following documents:

• Main text
• fonc-13-1124459.pdf

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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: rs1042821

PubMed Link: 35541922

Variant Present in the following documents:

• ijbsv18p2821.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH6: 116G>T; G39V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants.

Genes

S Santos, Luís L; M Gil, Octávia O; N Silva, Susana S; C Gomes, Bruno B; C Ferreira, Teresa T; Limbert, Edward E; Rueff, José J

Publication Date: 2020-09-17

Variant appearance in text: rs1042821

PubMed Link: 32957448

Variant Present in the following documents:

• Main text

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Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Perez-Valencia, Juan A JA; Gallon, Richard R; Chen, Yunjia Y; Koch, Jakob J; Keller, Markus M; Oberhuber, Klaus K; Gomes, Alicia A; Zschocke, Johannes J; Burn, John J; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Messiaen, Ludwine L; Wimmer, Katharina K

Publication Date: 2020-12

Variant appearance in text: rs1042821

PubMed Link: 32773772

Variant Present in the following documents:

• Main text
• 41436_2020_Article_925.pdf

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Systematic Review: Genetic Associations for Prognostic Factors of Urinary Bladder Cancer.

Biomarkers In Cancer

Lipunova, Nadezda N; Wesselius, Anke A; Cheng, Kar K KK; van Schooten, Frederik J FJ; Cazier, Jean-Baptiste JB; Bryan, Richard T RT; Zeegers, Maurice P MP

Publication Date: 2019

Variant appearance in text: rs1042821

PubMed Link: 31908559

Variant Present in the following documents:

• Supplementary_Tables_1_12_Sep24_xyz268777d1d25d8.pdf

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Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.

Genes

Santos, Luís S LS; Gomes, Bruno Costa BC; Bastos, Hélder N HN; Gil, Octávia M OM; Azevedo, Ana Paula AP; Ferreira, Teresa C TC; Limbert, Edward E; Silva, Susana N SN; Rueff, José J

Publication Date: 2019-08-01

Variant appearance in text: rs1042821

PubMed Link: 31374908

Variant Present in the following documents:

• Main text

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Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Journal Of Cancer

Liu, Jingwei J; Zheng, Bowen B; Li, Ying Y; Yuan, Yuan Y; Xing, Chengzhong C

Publication Date: 2019

Variant appearance in text: rs1042821

PubMed Link: 31031852

Variant Present in the following documents:

• Main text
• jcav10p1417.pdf

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Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis.

Cancer Cell International

Wen, Jing J; Xu, Qian Q; Yuan, Yuan Y

Publication Date: 2018

Variant appearance in text: rs1042821

PubMed Link: 30337837

Variant Present in the following documents:

• Main text

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Surgical therapy and next-generation sequencing-based genetic alteration analysis of malignant solitary fibrous tumor of the pleura.

Oncotargets And Therapy

Song, Zuoqing Z; Yang, Fan F; Zhang, Yingguo Y; Fan, Ping P; Liu, Guowei G; Li, Chao C; Ding, Wansheng W; Zhang, Yulong Y; Xu, Xiaohong X; Ye, Yancheng Y

Publication Date: 2018

Variant appearance in text: rs1042821

PubMed Link: 30214228

Variant Present in the following documents:

• ott-11-5227.pdf

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Genetic susceptibility to bone and soft tissue sarcomas: a field synopsis and meta-analysis.

Oncotarget

Benna, Clara C; Simioni, Andrea A; Pasquali, Sandro S; De Boni, Davide D; Rajendran, Senthilkumar S; Spiro, Giovanna G; Colombo, Chiara C; Virgone, Calogero C; DuBois, Steven G SG; Gronchi, Alessandro A; Rossi, Carlo Riccardo CR; Mocellin, Simone S

Publication Date: 2018-04-06

Variant appearance in text: rs1042821

PubMed Link: 29719630

Variant Present in the following documents:

View BVdb publication page

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Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications

Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J

Publication Date: 2018-03-02

Variant appearance in text: rs1042821

PubMed Link: 29500430

Variant Present in the following documents:

• 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1

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Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics

Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2018-02-20

Variant appearance in text: rs1042821

PubMed Link: 29458332

Variant Present in the following documents:

• Main text
• 12881_2018_Article_533.pdf

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

Nature Communications

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

Publication Date: 2018-02-15

Variant appearance in text: rs1042821

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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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: rs1042821

PubMed Link: 28749454

Variant Present in the following documents:

• Main text
• ctg201735x1.pdf
• ctg201735a.pdf

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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: rs1042821

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs.

Cold Spring Harbor Molecular Case Studies

Kukita, Yoji Y; Okami, Jiro J; Yoneda-Kato, Noriko N; Nakamae, Ikuko I; Kawabata, Takeshi T; Higashiyama, Masahiko M; Kato, Junya J; Kodama, Ken K; Kato, Kikuya K

Publication Date: 2016-11

Variant appearance in text: rs1042821

PubMed Link: 27900359

Variant Present in the following documents:

• Main text
• KukitaMCS001032.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1042821

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: rs1042821

PubMed Link: 25938433

Variant Present in the following documents:

• Main text

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Interactions between meat intake and genetic variation in relation to colorectal cancer.

Genes & Nutrition

Andersen, Vibeke V; Vogel, Ulla U

Publication Date: 2015-01

Variant appearance in text: rs1042821

PubMed Link: 25491747

Variant Present in the following documents:

• 12263_2014_Article_448.pdf

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Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr

Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA

Publication Date: 2013-12-10

Variant appearance in text: rs1042821

PubMed Link: 24326041

Variant Present in the following documents:

• bcr3584-S1.pdf

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Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer.

Journal Of Biomedical Research

Wang, Meilin M; Chu, Haiyan H; Zhang, Zhengdong Z; Wei, Qingyi Q

Publication Date: 2013-05

Variant appearance in text: rs1042821

PubMed Link: 23720673

Variant Present in the following documents:

• jbr-27-03-179.pdf

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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: rs1042821

PubMed Link: 22623965

Variant Present in the following documents:

• Main text
• pone.0036962.pdf

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Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field.

Gut

Ogino, Shuji S; Chan, Andrew T AT; Fuchs, Charles S CS; Giovannucci, Edward E

Publication Date: 2011-03

Variant appearance in text: rs1042821

PubMed Link: 21036793

Variant Present in the following documents:

• Main text

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Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

Journal Of Biomedical Science

Doss, C George Priya CG; Sethumadhavan, Rao R

Publication Date: 2009-04-24

Variant appearance in text: rs1042821

PubMed Link: 19389263

Variant Present in the following documents:

• 1423-0127-16-42.pdf

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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: rs1042821

PubMed Link: 18355840

Variant Present in the following documents:

• Main text

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