TYMS c.*19C>T

Variant ID: 18-673016-C-T

NM_001071.2(TYMS):c.*19C>T

This variant was identified in 47 publications

View GRCh38 version.




Publications:


Pharmacogenomic-guided dosing of fluoropyrimidines beyond DPYD: time for a polygenic algorithm?

Frontiers In Pharmacology
Maslarinou, Anthi A; Manolopoulos, Vangelis G VG; Ragia, Georgia G
Publication Date: 2023

Variant appearance in text: rs699517
PubMed Link: 37256234
Variant Present in the following documents:
  • Main text
  • fphar-14-1184523.pdf
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs699517
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Influence of Single-Nucleotide Polymorphisms on Clinical Outcomes of Capecitabine-Based Chemotherapy in Colorectal Cancer Patients: A Systematic Review.

Cancers
Cura, Yasmin Y; Pérez-Ramírez, Cristina C; Sánchez-Martín, Almudena A; Membrive-Jimenez, Cristina C; Valverde-Merino, María Isabel MI; González-Flores, Encarnación E; Morales, Alberto Jiménez AJ
Publication Date: 2023-03-17

Variant appearance in text: rs699517
PubMed Link: 36980706
Variant Present in the following documents:
  • Main text
  • cancers-15-01821.pdf
View BVdb publication page



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: rs699517
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs699517
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs699517
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.

American Journal Of Human Genetics
Tummala, Hemanth H; Walne, Amanda A; Buccafusca, Roberto R; Alnajar, Jenna J; Szabo, Anita A; Robinson, Peter P; McConkie-Rosell, Allyn A; Wilson, Meredith M; Crowley, Suzanne S; Kinsler, Veronica V; Ewins, Anna-Maria AM; Madapura, Pradeepa M PM; Patel, Manthan M; Pontikos, Nikolas N; Codd, Veryan V; Vulliamy, Tom T; Dokal, Inderjeet I
Publication Date: 2022-08-04

Variant appearance in text: rs699517
PubMed Link: 35931051
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



The use of pharmacogenetics to increase the safety of colorectal cancer patients treated with fluoropyrimidines.

Cancer Drug Resistance (Alhambra, Calif.)
De Mattia, Elena E; Roncato, Rossana R; Dalle Fratte, Chiara C; Ecca, Fabrizio F; Toffoli, Giuseppe G; Cecchin, Erika E
Publication Date: 2019

Variant appearance in text: rs699517
PubMed Link: 35582139
Variant Present in the following documents:
  • cdr-2-116.pdf
View BVdb publication page



Maternal polymorphic loci of rs1979277 serine hydroxymethyl transferase and rs1805087 5-methylenetetrahydrofolate are correlated with the development of fetal growth restriction: A case-control study.

International Journal Of Reproductive Biomedicine
Efremova, Olesya O; Ponomarenko, Irina I; Churnosov, Mikhail M
Publication Date: 2021-12

Variant appearance in text: rs699517
PubMed Link: 35098008
Variant Present in the following documents:
  • ijrb-19-1067.pdf
View BVdb publication page



3'-UTR Polymorphisms in Thymidylate Synthase with Colorectal Cancer Prevalence and Prognosis.

Journal Of Personalized Medicine
Jeon, Young-Joo YJ; Cho, Sung-Hwan SH; Kim, Eo-Jin EJ; Ryu, Chang-Soo CS; Park, Han-Sung HS; Kim, Jong-Woo JW; Lee, Jeong-Yong JY; An, Hui-Jeong HJ; Kim, Nam-Keun NK
Publication Date: 2021-06-09

Variant appearance in text: rs699517
PubMed Link: 34207922
Variant Present in the following documents:
  • Main text
  • jpm-11-00537.pdf
View BVdb publication page



The 3'-UTR Polymorphisms in the Thymidylate Synthase (TS) Gene Associated with the Risk of Ischemic Stroke and Silent Brain Infarction.

Journal Of Personalized Medicine
Kim, Jung Oh JO; Park, Han Sung HS; Ko, Eun Ju EJ; Sung, Jung Hoon JH; Kim, Jinkwon J; Oh, Seung Hun SH; Kim, Ok Joon OJ; Kim, Nam Keun NK
Publication Date: 2021-03-12

Variant appearance in text: rs699517
PubMed Link: 33809325
Variant Present in the following documents:
  • Main text
  • jpm-11-00200.pdf
View BVdb publication page



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: rs699517
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Polymorphisms in TYMS for Prediction of Capecitabine-Induced Hand-Foot Syndrome in Chinese Patients with Colorectal Cancer.

Cancer Research And Treatment
Dong, Si-Qi SQ; Wang, Tong-Min TM; Zhang, Jiang-Bo JB; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Wu, Zi-Yi ZY; Yang, Da-Wei DW; Cao, Lian-Jing LJ; Huang, Jing-Wen JW; Li, Xi-Zhao XZ; Zhang, Pei-Fen PF; Zheng, Xiao-Hui XH; Jia, Wei-Hua WH
Publication Date: 2021-07

Variant appearance in text: rs699517
PubMed Link: 33285053
Variant Present in the following documents:
  • Main text
  • crt-2020-457.pdf
View BVdb publication page



The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment?

Journal Of Personalized Medicine
Simões, Ana Rita AR; Fernández-Rozadilla, Ceres C; Maroñas, Olalla O; Carracedo, Ángel Á
Publication Date: 2020-11-19

Variant appearance in text: rs699517
PubMed Link: 33228198
Variant Present in the following documents:
  • Main text
  • jpm-10-00237.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs699517
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One
Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B
Publication Date: 2020

Variant appearance in text: rs699517
PubMed Link: 32492030
Variant Present in the following documents:
  • pone.0233058.s001.xlsx, sheet 8
View BVdb publication page



Polymorphisms of MTHFR and TYMS predict capecitabine-induced hand-foot syndrome in patients with metastatic breast cancer.

Cancer Communications (London, England)
Lin, Shaoyan S; Yue, Jian J; Guan, Xiuwen X; Yuan, Peng P; Wang, Jiayu J; Luo, Yang Y; Fan, Ying Y; Cai, Ruigang R; Li, Qiao Q; Chen, Shanshan S; Zhang, Pin P; Li, Qing Q; Ma, Fei F; Xu, Binghe B
Publication Date: 2019-10-11

Variant appearance in text: rs699517
PubMed Link: 31601265
Variant Present in the following documents:
  • Main text
  • 40880_2019_Article_399.pdf
View BVdb publication page



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: rs699517
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



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: rs699517
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs699517
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis.

Scientific Reports
López-Rodríguez, Rosario R; Ferreiro-Iglesias, Aida A; Lima, Aurea A; Bernardes, Miguel M; Pawlik, Andrzej A; Paradowska-Gorycka, Agnieszka A; Świerkot, Jerzy J; Slezak, Ryszard R; Dolžan, Vita V; González-Álvaro, Isidoro I; Narváez, Javier J; Cáliz, Rafael R; Pérez-Pampín, Eva E; Mera-Varela, Antonio A; Vidal-Bralo, Laura L; Acuña Ochoa, José Gorgonio JG; Conde, Carmen C; Gómez-Reino, Juan J JJ; González, Antonio A
Publication Date: 2018-05-09

Variant appearance in text: rs699517
PubMed Link: 29743634
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_25634.pdf
View BVdb publication page



3'-UTR Polymorphisms of MTHFR and TS Associated with Osteoporotic Vertebral Compression Fracture Susceptibility in Postmenopausal Women.

International Journal Of Molecular Sciences
Ahn, Tae-Keun TK; Kim, Jung Oh JO; Kim, Hyun Woo HW; Park, Han Sung HS; Shim, Jeong Hyun JH; Ropper, Alexander E AE; Han, In Bo IB; Kim, Nam Keun NK
Publication Date: 2018-03-12

Variant appearance in text: rs699517
PubMed Link: 29534533
Variant Present in the following documents:
  • Main text
  • ijms-19-00824.pdf
View BVdb publication page



Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study.

Environment International
Niedzwiecki, Megan M MM; Liu, Xinhua X; Zhu, Huiping H; Hall, Megan N MN; Slavkovich, Vesna V; Ilievski, Vesna V; Levy, Diane D; Siddique, Abu B AB; Kibriya, Muhammad G MG; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Navas-Acien, Ana A; Graziano, Joseph H JH; Finnell, Richard H RH; Ahsan, Habibul H; Gamble, Mary V MV
Publication Date: 2018-04

Variant appearance in text: rs699517
PubMed Link: 29421402
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs699517
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



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: rs699517
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



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: rs699517
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Pretreatment Red Blood Cell Total Folate Concentration Is Associated With Response to Pemetrexed in Stage IV Nonsquamous Non-Small-cell Lung Cancer.

Clinical Lung Cancer
Bagley, Stephen J SJ; Vitale, Steven S; Zhang, Suhong S; Aggarwal, Charu C; Evans, Tracey L TL; Alley, Evan W EW; Cohen, Roger B RB; Langer, Corey J CJ; Blair, Ian A IA; Vachani, Anil A; Whitehead, Alexander S AS
Publication Date: 2017-03

Variant appearance in text: rs699517
PubMed Link: 27863923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine.

International Journal Of Molecular Sciences
Simeon, Vittorio V; Todoerti, Katia K; La Rocca, Francesco F; Caivano, Antonella A; Trino, Stefania S; Lionetti, Marta M; Agnelli, Luca L; De Luca, Luciana L; Laurenzana, Ilaria I; Neri, Antonino A; Musto, Pellegrino P
Publication Date: 2015-07-30

Variant appearance in text: rs699517
PubMed Link: 26263974
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of alcohol dehydrogenase gene 4 polymorphisms on esophageal squamous cell carcinoma risk in a Chinese population.

Plos One
Xu, Xiaoling X; Wang, Jiwen J; Zhu, Shuang-Mei SM; Yang, Ming M; Fang, Yun Y; Zhao, An A; Song, Qian Q; Mao, Weimin W
Publication Date: 2015

Variant appearance in text: rs699517
PubMed Link: 26039424
Variant Present in the following documents:
  • Main text
  • pone.0127304.pdf
View BVdb publication page



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: rs699517
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



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: rs699517
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Genetic variants in microRNA target sites of 37 selected cancer-related genes and the risk of cervical cancer.

Plos One
Mi, Yang Y; Wang, Lijuan L; Zong, Lu L; Pei, Meili M; Lu, Qingyang Q; Huang, Pu P
Publication Date: 2014

Variant appearance in text: rs699517
PubMed Link: 24465869
Variant Present in the following documents:
  • Main text
View BVdb publication page



One-carbon metabolism pathway gene variants and risk of clear cell renal cell carcinoma in a Chinese population.

Plos One
Zhang, Lei L; Meng, Xiaoxin X; Ju, Xiaobing X; Cai, Hongzhou H; Li, Pu P; Cao, Qiang Q; Shao, Pengfei P; Qin, Chao C; Yin, Changjun C
Publication Date: 2013

Variant appearance in text: rs699517
PubMed Link: 24278388
Variant Present in the following documents:
  • Main text
  • pone.0081129.pdf
View BVdb publication page



A case-parent triad assessment of folate metabolic genes and the risk of childhood acute lymphoblastic leukemia.

Cancer Causes & Control : Ccc
Lupo, Philip J PJ; Nousome, Darryl D; Kamdar, Kala Y KY; Okcu, M Fatih MF; Scheurer, Michael E ME
Publication Date: 2012-11

Variant appearance in text: rs699517
PubMed Link: 22941668
Variant Present in the following documents:
  • Main text
View BVdb publication page



Maternal and infant gene-folate interactions and the risk of neural tube defects.

American Journal Of Medical Genetics. Part A
Etheredge, Analee J AJ; Finnell, Richard H RH; Carmichael, Suzan L SL; Lammer, Edward J EJ; Zhu, Huiping H; Mitchell, Laura E LE; Shaw, Gary M GM
Publication Date: 2012-10

Variant appearance in text: rs699517
PubMed Link: 22903727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thymidylate synthase polymorphisms and risk of conotruncal heart defects.

American Journal Of Medical Genetics. Part A
Zhu, Huiping H; Yang, Wei W; Shaw, Nathan N; Perloff, Spencer S; Carmichael, Suzan L SL; Finnell, Richard H RH; Shaw, Gary M GM; Lammer, Edward J EJ
Publication Date: 2012-09

Variant appearance in text: rs699517
PubMed Link: 22887475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of polymorphisms and haplotype structure of the human thymidylate synthase genetic region: a tool for pharmacogenetic studies.

Plos One
Ghosh, Soma S; Hossain, M Zulfiquer MZ; Borges, Michael M; Goggins, Michael G MG; Ingersoll, Roxann G RG; Eshleman, James R JR; Klein, Alison P AP; Kern, Scott E SE
Publication Date: 2012

Variant appearance in text: rs699517
PubMed Link: 22496803
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of the TYMS gene are not associated with congenital cardiac septal defects in a Han Chinese population.

Plos One
Zhao, Jian-Yuan JY; Sun, Jing-Wei JW; Gu, Zhuo-Ya ZY; Wang, Jue J; Wang, Er-Li EL; Yang, Xue-Yan XY; Qiao, Bin B; Duan, Wen-Yuan WY; Huang, Guo-Ying GY; Wang, Hong-Yan HY
Publication Date: 2012

Variant appearance in text: rs699517
PubMed Link: 22384047
Variant Present in the following documents:
  • Main text
  • pone.0031644.pdf
View BVdb publication page



A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One
Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J
Publication Date: 2011

Variant appearance in text: rs699517
PubMed Link: 22140583
Variant Present in the following documents:
  • pone.0028408.s004.xls, sheet 1
View BVdb publication page



Host genetics in follicular lymphoma.

Best Practice & Research. Clinical Haematology
Cerhan, James R JR
Publication Date: 2011-06

Variant appearance in text: rs699517
PubMed Link: 21658613
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.

Cancer Causes & Control : Ccc
Levine, A Joan AJ; Lee, Won W; Figueiredo, Jane C JC; Conti, David V DV; Vandenberg, David J DJ; Davis, Brian D BD; Edlund, Christopher K CK; Henning, Susanne M SM; Heber, David D; Stern, Mariana C MC; Haile, Robert W RW
Publication Date: 2011-04

Variant appearance in text: rs699517
PubMed Link: 21274745
Variant Present in the following documents:
View BVdb publication page



Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Kelemen, Linda E LE; Goodman, Marc T MT; McGuire, Valerie V; Rossing, Mary Anne MA; Webb, Penelope M PM; , ; Köbel, Martin M; Anton-Culver, Hoda H; Beesley, Jonathan J; Berchuck, Andrew A; Brar, Sony S; Carney, Michael E ME; Chang-Claude, Jenny J; Chenevix-Trench, Georgia G; , ; Cramer, Daniel W DW; Cunningham, Julie M JM; Dicioccio, Richard A RA; Doherty, Jennifer A JA; Easton, Douglas F DF; Fredericksen, Zachary S ZS; Fridley, Brooke L BL; Gates, Margaret A MA; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Høgdall, Estrid E; Kjaer, Susanne Krüger SK; Lurie, Galina G; Menon, Usha U; Moorman, Patricia G PG; Moysich, Kirsten K; Ness, Roberta B RB; Palmieri, Rachel T RT; Pearce, Celeste L CL; Pharoah, Paul D P PD; Ramus, Susan J SJ; Song, Honglin H; Stram, Daniel O DO; Tworoger, Shelley S SS; Van Den Berg, David D; Vierkant, Robert A RA; Wang-Gohrke, Shan S; Whittemore, Alice S AS; Wilkens, Lynne R LR; Wu, Anna H AH; Schildkraut, Joellen M JM; Sellers, Thomas A TA; Goode, Ellen L EL; ,
Publication Date: 2010-07

Variant appearance in text: rs699517
PubMed Link: 20570913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.

American Journal Of Obstetrics And Gynecology
Martinez, Carla A CA; Northrup, Hope H; Lin, Jone-Ing JI; Morrison, Alanna C AC; Fletcher, Jack M JM; Tyerman, Gayle H GH; Au, Kit Sing KS
Publication Date: 2009-10

Variant appearance in text: rs699517
PubMed Link: 19683694
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Xu, Wang-Hong WH; Long, Ji-Rong JR; Zheng, Wei W; Ruan, Zhi-Xian ZX; Cai, Qiuyin Q; Cheng, Jia-Rong JR; Zhao, Gen-Ming GM; Xiang, Yong-Bing YB; Shu, Xiao-Ou XO
Publication Date: 2009-02

Variant appearance in text: rs699517
PubMed Link: 19190136
Variant Present in the following documents:
  • Main text
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No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Stevens, Victoria L VL; Rodriguez, Carmen C; Sun, Juzhong J; Talbot, Jeffrey T JT; Thun, Michael J MJ; Calle, Eugenia E EE
Publication Date: 2008-12

Variant appearance in text: rs699517
PubMed Link: 19064578
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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: rs699517
PubMed Link: 18830263
Variant Present in the following documents:
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  • 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: rs699517
PubMed Link: 17119116
Variant Present in the following documents:
  • Main text
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