ESR1 c.453-4885A>G

Variant ID: 6-152158847-A-G

NM_000125.3(ESR1):c.453-4885A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Association between genetic polymorphisms and endometrial cancer risk: a systematic review.

Journal Of Medical Genetics
Bafligil, Cemsel C; Thompson, Deborah J DJ; Lophatananon, Artitaya A; Smith, Miriam J MJ; Ryan, Neil Aj NA; Naqvi, Anie A; Evans, D Gareth DG; Crosbie, Emma J EJ
Publication Date: 2020-09

Variant appearance in text: rs79575945
PubMed Link: 32066633
Variant Present in the following documents:
  • Main text
  • jmedgenet-2019-106529.pdf
View BVdb publication page



Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer.

Endocrine-Related Cancer
O'Mara, Tracy A TA; Glubb, Dylan M DM; Painter, Jodie N JN; Cheng, Timothy T; Dennis, Joe J; , ; Attia, John J; Holliday, Elizabeth G EG; McEvoy, Mark M; Scott, Rodney J RJ; Ashton, Katie K; Proietto, Tony T; Otton, Geoffrey G; Shah, Mitul M; Ahmed, Shahana S; Healey, Catherine S CS; Gorman, Maggie M; Martin, Lynn L; , ; Hodgson, Shirley S; Fasching, Peter A PA; Hein, Alexander A; Beckmann, Matthias W MW; Ekici, Arif B AB; Hall, Per P; Czene, Kamila K; Darabi, Hatef H; Li, Jingmei J; Dürst, Matthias M; Runnebaum, Ingo I; Hillemanns, Peter P; Dörk, Thilo T; Lambrechts, Diether D; Depreeuw, Jeroen J; Annibali, Daniela D; Amant, Frederic F; Zhao, Hui H; Goode, Ellen L EL; Dowdy, Sean C SC; Fridley, Brooke L BL; Winham, Stacey J SJ; Salvesen, Helga B HB; Njølstad, Tormund S TS; Trovik, Jone J; Werner, Henrica M J HM; Tham, Emma E; Liu, Tao T; Mints, Miriam M; , ; Bolla, Manjeet K MK; Michailidou, Kyriaki K; Tyrer, Jonathan P JP; Wang, Qin Q; Hopper, John L JL; , ; Peto, Julian J; Swerdlow, Anthony J AJ; Burwinkel, Barbara B; Brenner, Hermann H; Meindl, Alfons A; Brauch, Hiltrud H; Lindblom, Annika A; Chang-Claude, Jenny J; Couch, Fergus J FJ; Giles, Graham G GG; Kristensen, Vessela N VN; Cox, Angela A; Pharoah, Paul D P PD; Dunning, Alison M AM; Tomlinson, Ian I; Easton, Douglas F DF; Thompson, Deborah J DJ; Spurdle, Amanda B AB
Publication Date: 2015-10

Variant appearance in text: rs79575945
PubMed Link: 26330482
Variant Present in the following documents:
  • Main text
View BVdb publication page