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: rs2286940

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: MLH1: 1410-169C>T; rs2286940

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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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: MLH1: 1410-169C>T; rs2286940

PubMed Link: 32756484

Variant Present in the following documents:

• Main text
• ijms-21-05561.pdf

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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: rs2286940

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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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: MLH1: 1410-169C>T; rs2286940

PubMed Link: 28051113

Variant Present in the following documents:

• srep39348-s1.pdf

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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: rs2286940

PubMed Link: 27630279

Variant Present in the following documents:

• Main text

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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: rs2286940

PubMed Link: 26743341

Variant Present in the following documents:

• Main text

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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: rs2286940

PubMed Link: 25703993

Variant Present in the following documents:

• Main text

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Role of one-carbon metabolizing pathway genes and gene-nutrient interaction in the risk of non-Hodgkin lymphoma.

Cancer Causes & Control : Ccc

Li, Qian Q; Lan, Qing Q; Zhang, Yawei Y; Bassig, Bryan A BA; Holford, Theodore R TR; Leaderer, Brian B; Boyle, Peter P; Zhu, Yong Y; Qin, Qin Q; Chanock, Stephen S; Rothman, Nathaniel N; Zheng, Tongzhang T

Publication Date: 2013-10

Variant appearance in text: rs2286940

PubMed Link: 23913011

Variant Present in the following documents:

• Main text

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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: rs2286940

PubMed Link: 23852586

Variant Present in the following documents:

• Main text

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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: rs2286940

PubMed Link: 20805886

Variant Present in the following documents:

• pone.0012260.s004.pdf

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Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.

Leukemia

Wang, S S SS; Maurer, M J MJ; Morton, L M LM; Habermann, T M TM; Davis, S S; Cozen, W W; Lynch, C F CF; Severson, R K RK; Rothman, N N; Chanock, S J SJ; Hartge, P P; Cerhan, J R JR

Publication Date: 2009-03

Variant appearance in text: rs2286940

PubMed Link: 18830263

Variant Present in the following documents:

• Main text
• nihms278004.pdf

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Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.

Blood

Lim, Unhee U; Wang, Sophia S SS; Hartge, Patricia P; Cozen, Wendy W; Kelemen, Linda E LE; Chanock, Stephen S; Davis, Scott S; Blair, Aaron A; Schenk, Maryjean M; Rothman, Nathaniel N; Lan, Qing Q

Publication Date: 2007-04-01

Variant appearance in text: rs2286940

PubMed Link: 17119116

Variant Present in the following documents:

• Main text

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