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: rs162562

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs162562

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.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: rs162562

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic 3'UTR variations and clinical factors significantly contribute to survival prediction and clinical response in breast cancer patients.

Scientific Reports

Pamuła-Piłat, Jolanta J; Tęcza, Karolina K; Kalinowska-Herok, Magdalena M; Grzybowska, Ewa E

Publication Date: 2020-03-31

Variant appearance in text: rs162562

PubMed Link: 32235849

Variant Present in the following documents:

• Main text
• 41598_2020_Article_62662.pdf

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs162562

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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: rs162562

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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Associations of CYP1 polymorphisms with risk of prostate cancer: an updated meta-analysis.

Bioscience Reports

Zhu, Wei W; Liu, Hailang H; Wang, Xinguang X; Lu, Jinjin J; Zhang, Huiping H; Wang, Shaogang S; Yang, Weimin W

Publication Date: 2019-03-29

Variant appearance in text: rs162562

PubMed Link: 30765615

Variant Present in the following documents:

• Main text
• bsr-39-bsr20181876.pdf

View BVdb publication page

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A single nucleotide polymorphism in CYP1B1 leads to differential prostate cancer risk and telomere length.

Journal Of Cancer

Gu, Cheng-Yuan CY; Li, Gao-Xiang GX; Zhu, Yu Y; Xu, Hua H; Zhu, Yao Y; Qin, Xiao-Jian XJ; Bo, Dai D; Ye, Ding-Wei DW

Publication Date: 2018

Variant appearance in text: rs162562

PubMed Link: 29344273

Variant Present in the following documents:

• Main text
• jcav09p0269.pdf

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs162562

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs162562

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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: rs162562

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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Genetic polymorphisms of phase I metabolizing enzyme genes, their interaction with lifetime grilled and smoked meat intake, and breast cancer incidence.

Annals Of Epidemiology

Parada, Humberto H; Steck, Susan E SE; Cleveland, Rebecca J RJ; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Santella, Regina M RM; Gammon, Marilie D MD

Publication Date: 2017-03

Variant appearance in text: rs162562

PubMed Link: 27956118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Head-and-neck squamous cell carcinoma risk in smokers: no association detected between phenotype and AHR, CYP1A1, CYP1A2, or CYP1B1 genotype.

Human Genomics

Jorge-Nebert, Lucia F LF; Zhang, Ge G; Wilson, Keith M KM; Jiang, Zhengwen Z; Butler, Randall R; Gluckman, Jack L JL; Pinney, Susan M SM; Nebert, Daniel W DW

Publication Date: 2016-11-28

Variant appearance in text: rs162562

PubMed Link: 27894333

Variant Present in the following documents:

• Main text
• 40246_2016_Article_94.pdf

View BVdb publication page

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Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics

Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T

Publication Date: 2016-01-07

Variant appearance in text: rs162562

PubMed Link: 26744305

Variant Present in the following documents:

• 40246_2015_58_MOESM5_ESM.xlsx, sheet 3
• 40246_2015_58_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs162562

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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Genetic variation in the CYP1A1 gene is related to circulating PCB118 levels in a population-based sample.

Environmental Research

Lind, Lars L; Penell, Johanna J; Syvänen, Anne-Christine AC; Axelsson, Tomas T; Ingelsson, Erik E; Morris, Andrew P AP; Lindgren, Cecilia C; Salihovic, Samira S; van Bavel, Bert B; Lind, P Monica PM

Publication Date: 2014-08

Variant appearance in text: rs162562

PubMed Link: 24926919

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs162562

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.

Molecular Vision

Dong, Shuqian S; Yang, Jingyun J; Yu, Weihong W; Kota, Pravina P; Xia, Xiaobo X; Xu, Huizhuo H

Publication Date: 2012

Variant appearance in text: rs162562

PubMed Link: 22509109

Variant Present in the following documents:

• Main text
• mv-v18-786.pdf

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Genetic associations with sporadic neuroendocrine tumor risk.

Carcinogenesis

Ter-Minassian, Monica M; Wang, Zhaoxi Z; Asomaning, Kofi K; Wu, Michael C MC; Liu, Chen-Yu CY; Paulus, Jessica K JK; Liu, Geoffrey G; Bradbury, Penelope A PA; Zhai, Rihong R; Su, Li L; Frauenhoffer, Christine S CS; Hooshmand, Susanne M SM; De Vivo, Immaculata I; Lin, Xihong X; Christiani, David C DC; Kulke, Matthew H MH

Publication Date: 2011-08

Variant appearance in text: rs162562

PubMed Link: 21606320

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma.

Molecular Vision

Burdon, Kathryn P KP; Hewitt, Alex W AW; Mackey, David A DA; Mitchell, Paul P; Craig, Jamie E JE

Publication Date: 2010-11-04

Variant appearance in text: rs162562

PubMed Link: 21139974

Variant Present in the following documents:

• Main text
• mv-v16-2286.pdf

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Dietary quercetin, quercetin-gene interaction, metabolic gene expression in lung tissue and lung cancer risk.

Carcinogenesis

Lam, Tram Kim TK; Rotunno, Melissa M; Lubin, Jay H JH; Wacholder, Sholom S; Consonni, Dario D; Pesatori, Angela C AC; Bertazzi, Pier Alberto PA; Chanock, Stephen J SJ; Burdette, Laurie L; Goldstein, Alisa M AM; Tucker, Margaret A MA; Caporaso, Neil E NE; Subar, Amy F AF; Landi, Maria Teresa MT

Publication Date: 2010-04

Variant appearance in text: rs162562

PubMed Link: 20044584

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.

Plos One

Rotunno, Melissa M; Yu, Kai K; Lubin, Jay H JH; Consonni, Dario D; Pesatori, Angela C AC; Goldstein, Alisa M AM; Goldin, Lynn R LR; Wacholder, Sholom S; Welch, Robert R; Burdette, Laurie L; Chanock, Stephen J SJ; Bertazzi, Pier Alberto PA; Tucker, Margaret A MA; Caporaso, Neil E NE; Chatterjee, Nilanjan N; Bergen, Andrew W AW; Landi, Maria Teresa MT

Publication Date: 2009-05-21

Variant appearance in text: rs162562

PubMed Link: 19479063

Variant Present in the following documents:

• Main text
• pone.0005652.pdf

View BVdb publication page

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Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.

Carcinogenesis

Freedman, Neal D ND; Ahn, Jiyoung J; Hou, Lifang L; Lissowska, Jolanta J; Zatonski, Witold W; Yeager, Meredith M; Chanock, Stephen J SJ; Chow, Wong Ho WH; Abnet, Christian C CC

Publication Date: 2009-01

Variant appearance in text: rs162562

PubMed Link: 19015200

Variant Present in the following documents:

• Main text

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Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

Carcinogenesis

Figueroa, Jonine D JD; Malats, Núria N; García-Closas, Montserrat M; Real, Francisco X FX; Silverman, Debra D; Kogevinas, Manolis M; Chanock, Stephen S; Welch, Robert R; Dosemeci, Mustafa M; Lan, Qing Q; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; García-Closas, Reina R; Castaño-Vinyals, Gemma G; Rothman, Nathaniel N

Publication Date: 2008-10

Variant appearance in text: rs162562

PubMed Link: 18632753

Variant Present in the following documents:

• Main text

View BVdb publication page

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