CYP19A1 c.602C>T ;(p.T201M)

Variant ID: 15-51514572-G-A

NM_000103.3(CYP19A1):c.602C>T;(p.T201M)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: CYP19A1: T201M
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Exemestane potency is unchanged by common nonsynonymous polymorphisms in CYP19A1: results of a novel anti-aromatase activity assay examining exemestane and its derivatives.

Pharmacology Research & Perspectives
Peterson, Amity A; Xia, Zuping Z; Chen, Gang G; Lazarus, Philip P
Publication Date: 2017-06

Variant appearance in text: aromatase: Thr201Met
PubMed Link: 28603632
Variant Present in the following documents:
  • Main text
  • PRP2-5-e00313.pdf
View BVdb publication page



Germline genetic predictors of aromatase inhibitor concentrations, estrogen suppression and drug efficacy and toxicity in breast cancer patients.

Pharmacogenomics
Hertz, Daniel L DL; Henry, N Lynn NL; Rae, James M JM
Publication Date: 2017-04

Variant appearance in text: CYP19A1: Thr201Met; rs28757184
PubMed Link: 28346074
Variant Present in the following documents:
  • Main text
View BVdb publication page



The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Bladder Cancer (Amsterdam, Netherlands)
Hoffmann, Michèle J MJ; Koutsogiannouli, Evangelia E; Skowron, Margaretha A MA; Pinkerneil, Maria M; Niegisch, Günter G; Brandt, Artur A; Stepanow, Stefanie S; Rieder, Harald H; Schulz, Wolfgang A WA
Publication Date: 2016-10-27

Variant appearance in text: CYP19A1: T201M; rs28757184
PubMed Link: 28035326
Variant Present in the following documents:
  • blc-2-blc160065-s001.xlsx, sheet 2
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: CYP19A1: T201M; rs28757184
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CYP19A1: T201M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Genetic polymorphisms in estrogen-related genes and the risk of breast cancer among Han Chinese women.

International Journal Of Molecular Sciences
Sun, Min-Ying MY; Du, Hong-Yan HY; Zhu, An-Na AN; Liang, Hui-Ying HY; de Garibay, Gorka Ruiz GR; Li, Fen-Xia FX; Li, Ming M; Yang, Xue-Xi XX
Publication Date: 2015-02-13

Variant appearance in text: aromatase: Thr201Met; rs28757184
PubMed Link: 25689428
Variant Present in the following documents:
  • ijms-16-04121.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CYP19A1: T201M; rs28757184
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: CYP19A1: T201M; rs28757184
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One
Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S
Publication Date: 2013

Variant appearance in text: CYP19A1: T201M; rs28757184
PubMed Link: 24340040
Variant Present in the following documents:
  • pone.0082562.s002.xlsx, sheet 1
View BVdb publication page



Impact of aromatase genetic variation on hormone levels and global outcome after severe TBI.

Journal Of Neurotrauma
Garringer, Julie A JA; Niyonkuru, Christian C; McCullough, Emily H EH; Loucks, Tammy T; Dixon, C Edward CE; Conley, Yvette P YP; Berga, Sarah S; Wagner, Amy K AK
Publication Date: 2013-08-15

Variant appearance in text: aromatase: Thr201Met; rs28757184
PubMed Link: 23540392
Variant Present in the following documents:
  • Main text
View BVdb publication page



A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture.

Bmc Medical Genetics
Wang, Jenny Z JZ; Deogan, Mandeep S MS; Lewis, Joshua R JR; Chew, Shelby S; Mullin, Ben H BH; McNab, Tegan J TJ; Wilson, Scott G SG; Ingley, Evan E; Prince, Richard L RL
Publication Date: 2011-12-20

Variant appearance in text: aromatase: Thr201Met
PubMed Link: 22185650
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-165.pdf
View BVdb publication page



CYP19A1 genetic variation in relation to prostate cancer risk and circulating sex hormone concentrations in men from the Breast and Prostate Cancer Cohort Consortium.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Travis, Ruth C RC; Schumacher, Fredrick F; Hirschhorn, Joel N JN; Kraft, Peter P; Allen, Naomi E NE; Albanes, Demetrius D; Berglund, Goran G; Berndt, Sonja I SI; Boeing, Heiner H; Bueno-de-Mesquita, H Bas HB; Calle, Eugenia E EE; Chanock, Stephen S; Dunning, Alison M AM; Hayes, Richard R; Feigelson, Heather Spencer HS; Gaziano, J Michael JM; Giovannucci, Edward E; Haiman, Christopher A CA; Henderson, Brian E BE; Kaaks, Rudolf R; Kolonel, Laurence N LN; Ma, Jing J; Rodriguez, Laudina L; Riboli, Elio E; Stampfer, Meir M; Stram, Daniel O DO; Thun, Michael J MJ; Tjønneland, Anne A; Trichopoulos, Dimitrios D; Vineis, Paolo P; Virtamo, Jarmo J; Le Marchand, Loïc L; Hunter, David J DJ
Publication Date: 2009-10

Variant appearance in text: CYP19A1: Thr201Met; rs28757184
PubMed Link: 19789370
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in estrogen biosynthesis and metabolism-related genes, ionizing radiation exposure, and risk of breast cancer among US radiologic technologists.

Breast Cancer Research And Treatment
Sigurdson, Alice J AJ; Bhatti, Parveen P; Chang, Shih-Chen SC; Rajaraman, Preetha P; Doody, Michele M MM; Bowen, Laura L; Simon, Steven L SL; Weinstock, Robert M RM; Linet, Martha S MS; Rosenstein, Marvin M; Stovall, Marilyn M; Alexander, Bruce H BH; Preston, Dale L DL; Struewing, Jeffery P JP
Publication Date: 2009-11

Variant appearance in text: CYP19A1: T201M; rs28757184
PubMed Link: 19214745
Variant Present in the following documents:
  • Main text
View BVdb publication page



New experimental models for aromatase inhibitor resistance.

The Journal Of Steroid Biochemistry And Molecular Biology
Chen, Shiuan S; Masri, Selma S; Hong, Yanyan Y; Wang, Xin X; Phung, Sheryl S; Yuan, Yate-Ching YC; Wu, Xiwei X
Publication Date: 2007

Variant appearance in text: aromatase: T201M
PubMed Link: 17611102
Variant Present in the following documents:
  • Main text
View BVdb publication page



What do we know about the mechanisms of aromatase inhibitor resistance?

The Journal Of Steroid Biochemistry And Molecular Biology
Chen, Shiuan S; Masri, Selma S; Wang, Xin X; Phung, Sheryl S; Yuan, Yate-Ching YC; Wu, Xiwei X
Publication Date: 2006-12

Variant appearance in text: aromatase: Thr201Met
PubMed Link: 17055257
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive examination of CYP19 variation and risk of breast cancer using two haplotype-tagging approaches.

Breast Cancer Research And Treatment
Olson, Janet E JE; Ingle, James N JN; Ma, Cynthia X CX; Pelleymounter, Linda L LL; Schaid, Daniel J DJ; Pankratz, V Shane VS; Vierkant, Robert A RA; Fredericksen, Zachary S ZS; Wu, Yanhong Y; Couch, Fergus J FJ; Vachon, Celine M CM; Sellers, Thomas A TA; Weinshilboum, Richard M RM
Publication Date: 2007-04

Variant appearance in text: CYP19: T201M
PubMed Link: 17004113
Variant Present in the following documents:
  • Main text
View BVdb publication page