Publications:

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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: rs5742933

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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The Roles of EXO1 and RPA1 Polymorphisms in Prognosis of Lung Cancer Patients Treated with Platinum-Based Chemotherapy.

Disease Markers

He, Jia J; Wang, Zhan Z; Wang, Ying Y; Zou, Ting T; Li, Xiang-Ping XP; Chen, Juan J

Publication Date: 2022

Variant appearance in text: rs5742933

PubMed Link: 36277983

Variant Present in the following documents:

• DM2022-3306189.pdf

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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: PMS1: -24G>C; rs5742933

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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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: rs5742933

PubMed Link: 32957448

Variant Present in the following documents:

• Main text
• genes-11-01083.pdf

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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: PMS1: -24G>C; rs5742933

PubMed Link: 32756484

Variant Present in the following documents:

• Main text
• ijms-21-05561.pdf

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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: PMS1: -24G>C; rs5742933

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.

Ebiomedicine

Ciosi, Marc M; Maxwell, Alastair A; Cumming, Sarah A SA; Hensman Moss, Davina J DJ; Alshammari, Asma M AM; Flower, Michael D MD; Durr, Alexandra A; Leavitt, Blair R BR; Roos, Raymund A C RAC; , ; , ; Holmans, Peter P; Jones, Lesley L; Langbehn, Douglas R DR; Kwak, Seung S; Tabrizi, Sarah J SJ; Monckton, Darren G DG

Publication Date: 2019-10

Variant appearance in text: rs5742933

PubMed Link: 31607598

Variant Present in the following documents:

• mmc1.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: rs5742933

PubMed Link: 31374908

Variant Present in the following documents:

• Main text
• genes-10-00586.pdf

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Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy.

Cancer Research And Treatment

Yang, Jie J; Huang, Ying Y; Feng, Yanru Y; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Yin, Luxi L; Wang, Weihu W; Wang, Shulian S; Liu, Yueping Y; Song, Yongwen Y; Li, Yexiong Y; Jin, Jing J; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019-07

Variant appearance in text: rs5742933

PubMed Link: 30590005

Variant Present in the following documents:

• Main text
• crt-2018-527.pdf

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Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility.

Oncology Letters

Santos, Luís S LS; Silva, Susana N SN; Gil, Octávia M OM; Ferreira, Teresa C TC; Limbert, Edward E; Rueff, José J

Publication Date: 2018-05

Variant appearance in text: rs5742933

PubMed Link: 29616133

Variant Present in the following documents:

• Main text

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Genetic variants in mRNA untranslated regions.

Wiley Interdisciplinary Reviews. Rna

Steri, Maristella M; Idda, M Laura ML; Whalen, Michael B MB; Orrù, Valeria V

Publication Date: 2018-07

Variant appearance in text: rs5742933

PubMed Link: 29582564

Variant Present in the following documents:

• Main text

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Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

Human Molecular Genetics

Raffield, Laura M LM; Louie, Tin T; Sofer, Tamar T; Jain, Deepti D; Ipp, Eli E; Taylor, Kent D KD; Papanicolaou, George J GJ; Avilés-Santa, Larissa L; Lange, Leslie A LA; Laurie, Cathy C CC; Conomos, Matthew P MP; Thornton, Timothy A TA; Chen, Yii-Der Ida YI; Qi, Qibin Q; Cotler, Scott S; Thyagarajan, Bharat B; Schneiderman, Neil N; Rotter, Jerome I JI; Reiner, Alex P AP; Lin, Henry J HJ

Publication Date: 2017-05-15

Variant appearance in text: rs5742933

PubMed Link: 28334935

Variant Present in the following documents:

• Main text

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Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung cancer in Chinese: a case-control study.

Plos One

Liu, Jing J; Wang, Xiaobo X; Ren, Yangwu Y; Li, Xuelian X; Zhang, Xichen X; Zhou, Baosen B

Publication Date: 2014

Variant appearance in text: rs5742933

PubMed Link: 25541996

Variant Present in the following documents:

• Main text
• pone.0115845.pdf

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Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.

Plos One

Liao, Ming M; Shi, Jianying J; Huang, Lirong L; Gao, Yong Y; Tan, Aihua A; Wu, Chunlei C; Lu, Zheng Z; Yang, Xiaobo X; Zhang, Shijun S; Hu, Yanlin Y; Qin, Xue X; Li, Jianling J; Chen, Gang G; Xu, Jianfeng J; Mo, Zengnan Z; Zhang, Haiying H

Publication Date: 2014

Variant appearance in text: rs5742933

PubMed Link: 25162662

Variant Present in the following documents:

• Main text
• pone.0105844.pdf

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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: rs5742933

PubMed Link: 22665904

Variant Present in the following documents:

• Main text

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Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.

Bmc Cancer

Conde, João J; Silva, Susana N SN; Azevedo, Ana P AP; Teixeira, Valdemar V; Pina, Julieta Esperança JE; Rueff, José J; Gaspar, Jorge F JF

Publication Date: 2009-09-25

Variant appearance in text: rs5742933

PubMed Link: 19781088

Variant Present in the following documents:

• Main text
• 1471-2407-9-344.pdf

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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: rs5742933

PubMed Link: 19389263

Variant Present in the following documents:

• Main text

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Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.

The Journal Of Infectious Diseases

Wang, Sophia S SS; Bratti, M Concepcion MC; Rodríguez, Ana Cecilia AC; Herrero, Rolando R; Burk, Robert D RD; Porras, Carolina C; González, Paula P; Sherman, Mark E ME; Wacholder, Sholom S; Lan, Z Elizabeth ZE; Schiffman, Mark M; Chanock, Stephen J SJ; Hildesheim, Allan A

Publication Date: 2009-01-01

Variant appearance in text: rs5742933

PubMed Link: 19012493

Variant Present in the following documents:

• Main text

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