HNF1B c.544+444C>T

Variant ID: 17-36098987-G-A

NM_000458.2(HNF1B):c.544+444C>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG.

Nature Communications
Giannareas, Nikolaos N; Zhang, Qin Q; Yang, Xiayun X; Na, Rong R; Tian, Yijun Y; Yang, Yuehong Y; Ruan, Xiaohao X; Huang, Da D; Yang, Xiaoqun X; Wang, Chaofu C; Zhang, Peng P; Manninen, Aki A; Wang, Liang L; Wei, Gong-Hong GH
Publication Date: 2022-11-28

Variant appearance in text: rs4239217
PubMed Link: 36443337
Variant Present in the following documents:
  • 41467_2022_Article_34994.pdf
  • 41467_2022_34994_MOESM2_ESM.pdf
  • 41467_2022_34994_MOESM1_ESM.pdf
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An Integrative Genomics Approach for Associating Genome-Wide Association Studies Information With Localized and Metastatic Prostate Cancer Phenotypes.

Biomarker Insights
Hicks, Chindo C; Ramani, Ritika R; Sartor, Oliver O; Bhalla, Ritu R; Miele, Lucio L; Dlamini, Zodwa Z; Gumede, Njabulo N
Publication Date: 2017

Variant appearance in text: rs4239217
PubMed Link: 28469398
Variant Present in the following documents:
  • TableSA.pdf
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Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

Human Molecular Genetics
Painter, Jodie N JN; O'Mara, Tracy A TA; Batra, Jyotsna J; Cheng, Timothy T; Lose, Felicity A FA; Dennis, Joe J; Michailidou, Kyriaki K; Tyrer, Jonathan P JP; Ahmed, Shahana S; Ferguson, Kaltin K; Healey, Catherine S CS; Kaufmann, Susanne S; Hillman, Kristine M KM; Walpole, Carina C; Moya, Leire L; Pollock, Pamela P; Jones, Angela A; Howarth, Kimberley K; Martin, Lynn L; Gorman, Maggie M; Hodgson, Shirley S; , ; , ; De Polanco, Ma Magdalena Echeverry MM; Sans, Monica M; Carracedo, Angel A; Castellvi-Bel, Sergi S; Rojas-Martinez, Augusto A; Santos, Erika E; Teixeira, Manuel R MR; Carvajal-Carmona, Luis L; Shu, Xiao-Ou XO; Long, Jirong J; Zheng, Wei W; Xiang, Yong-Bing YB; , ; Montgomery, Grant W GW; Webb, Penelope M PM; Scott, Rodney J RJ; McEvoy, Mark M; Attia, John J; Holliday, Elizabeth E; Martin, Nicholas G NG; Nyholt, Dale R DR; Henders, Anjali K AK; Fasching, Peter A PA; Hein, Alexander A; Beckmann, Matthias W MW; Renner, Stefan P SP; Dörk, Thilo T; Hillemanns, Peter P; Dürst, Matthias M; Runnebaum, Ingo I; Lambrechts, Diether D; Coenegrachts, Lieve L; Schrauwen, Stefanie S; Amant, Frederic F; Winterhoff, Boris B; Dowdy, Sean C SC; Goode, Ellen L EL; Teoman, Attila A; Salvesen, Helga B HB; Trovik, Jone J; Njolstad, Tormund S TS; Werner, Henrica M J HM; Ashton, Katie K; Proietto, Tony T; Otton, Geoffrey G; Tzortzatos, Gerasimos G; Mints, Miriam M; Tham, Emma E; , ; Hall, Per P; Czene, Kamila K; Liu, Jianjun J; Li, Jingmei J; Hopper, John L JL; Southey, Melissa C MC; , ; Ekici, Arif B AB; Ruebner, Matthias M; Johnson, Nicola N; Peto, Julian J; Burwinkel, Barbara B; Marme, Frederik F; Brenner, Hermann H; Dieffenbach, Aida K AK; Meindl, Alfons A; Brauch, Hiltrud H; , ; Lindblom, Annika A; Depreeuw, Jeroen J; Moisse, Matthieu M; Chang-Claude, Jenny J; Rudolph, Anja A; Couch, Fergus J FJ; Olson, Janet E JE; Giles, Graham G GG; Bruinsma, Fiona F; Cunningham, Julie M JM; Fridley, Brooke L BL; Børresen-Dale, Anne-Lise AL; Kristensen, Vessela N VN; Cox, Angela A; Swerdlow, Anthony J AJ; Orr, Nicholas N; Bolla, Manjeet K MK; Wang, Qin Q; Weber, Rachel Palmieri RP; Chen, Zhihua Z; Shah, Mitul M; French, Juliet D JD; Pharoah, Paul D P PD; Dunning, Alison M AM; Tomlinson, Ian I; Easton, Douglas F DF; Edwards, Stacey L SL; Thompson, Deborah J DJ; Spurdle, Amanda B AB
Publication Date: 2015-03-01

Variant appearance in text: rs4239217
PubMed Link: 25378557
Variant Present in the following documents:
  • Main text
  • ddu552.pdf
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Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.

Journal Of The American Society Of Nephrology : Jasn
Olden, Matthias M; Corre, Tanguy T; Hayward, Caroline C; Toniolo, Daniela D; Ulivi, Sheila S; Gasparini, Paolo P; Pistis, Giorgio G; Hwang, Shih-Jen SJ; Bergmann, Sven S; Campbell, Harry H; Cocca, Massimiliano M; Gandin, Ilaria I; Girotto, Giorgia G; Glaudemans, Bob B; Hastie, Nicholas D ND; Loffing, Johannes J; Polasek, Ozren O; Rampoldi, Luca L; Rudan, Igor I; Sala, Cinzia C; Traglia, Michela M; Vollenweider, Peter P; Vuckovic, Dragana D; Youhanna, Sonia S; Weber, Julien J; Wright, Alan F AF; Kutalik, Zoltán Z; Bochud, Murielle M; Fox, Caroline S CS; Devuyst, Olivier O
Publication Date: 2014-08

Variant appearance in text: rs4239217
PubMed Link: 24578125
Variant Present in the following documents:
  • Main text
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Comprehensive assessment and network analysis of the emerging genetic susceptibility landscape of prostate cancer.

Cancer Informatics
Hicks, Chindo C; Miele, Lucio L; Koganti, Tejaswi T; Vijayakumar, Srinivasan S
Publication Date: 2013

Variant appearance in text: rs4239217
PubMed Link: 24031161
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer.

Nature Communications
Shen, Hui H; Fridley, Brooke L BL; Song, Honglin H; Lawrenson, Kate K; Cunningham, Julie M JM; Ramus, Susan J SJ; Cicek, Mine S MS; Tyrer, Jonathan J; Stram, Douglas D; Larson, Melissa C MC; Köbel, Martin M; , ; Ziogas, Argyrios A; Zheng, Wei W; Yang, Hannah P HP; Wu, Anna H AH; Wozniak, Eva L EL; Woo, Yin Ling YL; Winterhoff, Boris B; Wik, Elisabeth E; Whittemore, Alice S AS; Wentzensen, Nicolas N; Weber, Rachel Palmieri RP; Vitonis, Allison F AF; Vincent, Daniel D; Vierkant, Robert A RA; Vergote, Ignace I; Van Den Berg, David D; Van Altena, Anne M AM; Tworoger, Shelley S SS; Thompson, Pamela J PJ; Tessier, Daniel C DC; Terry, Kathryn L KL; Teo, Soo-Hwang SH; Templeman, Claire C; Stram, Daniel O DO; Southey, Melissa C MC; Sieh, Weiva W; Siddiqui, Nadeem N; Shvetsov, Yurii B YB; Shu, Xiao-Ou XO; Shridhar, Viji V; Wang-Gohrke, Shan S; Severi, Gianluca G; Schwaab, Ira I; Salvesen, Helga B HB; Rzepecka, Iwona K IK; Runnebaum, Ingo B IB; Rossing, Mary Anne MA; Rodriguez-Rodriguez, Lorna L; Risch, Harvey A HA; Renner, Stefan P SP; Poole, Elizabeth M EM; Pike, Malcolm C MC; Phelan, Catherine M CM; Pelttari, Liisa M LM; Pejovic, Tanja T; Paul, James J; Orlow, Irene I; Omar, Siti Zawiah SZ; Olson, Sara H SH; Odunsi, Kunle K; Nickels, Stefan S; Nevanlinna, Heli H; Ness, Roberta B RB; Narod, Steven A SA; Nakanishi, Toru T; Moysich, Kirsten B KB; Monteiro, Alvaro N A AN; Moes-Sosnowska, Joanna J; Modugno, Francesmary F; Menon, Usha U; McLaughlin, John R JR; McGuire, Valerie V; Matsuo, Keitaro K; Adenan, Noor Azmi Mat NA; Massuger, Leon F A G LF; Lurie, Galina G; Lundvall, Lene L; Lubiński, Jan J; Lissowska, Jolanta J; Levine, Douglas A DA; Leminen, Arto A; Lee, Alice W AW; Le, Nhu D ND; Lambrechts, Sandrina S; Lambrechts, Diether D; Kupryjanczyk, Jolanta J; Krakstad, Camilla C; Konecny, Gottfried E GE; Kjaer, Susanne Krüger SK; Kiemeney, Lambertus A LA; Kelemen, Linda E LE; Keeney, Gary L GL; Karlan, Beth Y BY; Karevan, Rod R; Kalli, Kimberly R KR; Kajiyama, Hiroaki H; Ji, Bu-Tian BT; Jensen, Allan A; Jakubowska, Anna A; Iversen, Edwin E; Hosono, Satoyo S; Høgdall, Claus K CK; Høgdall, Estrid E; Hoatlin, Maureen M; Hillemanns, Peter P; Heitz, Florian F; Hein, Rebecca R; Harter, Philipp P; Halle, Mari K MK; Hall, Per P; Gronwald, Jacek J; Gore, Martin M; Goodman, Marc T MT; Giles, Graham G GG; Gentry-Maharaj, Aleksandra A; Garcia-Closas, Montserrat M; Flanagan, James M JM; Fasching, Peter A PA; Ekici, Arif B AB; Edwards, Robert R; Eccles, Diana D; Easton, Douglas F DF; Dürst, Matthias M; du Bois, Andreas A; Dörk, Thilo T; Doherty, Jennifer A JA; Despierre, Evelyn E; Dansonka-Mieszkowska, Agnieszka A; Cybulski, Cezary C; Cramer, Daniel W DW; Cook, Linda S LS; Chen, Xiaoqing X; Charbonneau, Bridget B; Chang-Claude, Jenny J; Campbell, Ian I; Butzow, Ralf R; Bunker, Clareann H CH; Brueggmann, Doerthe D; Brown, Robert R; Brooks-Wilson, Angela A; Brinton, Louise A LA; Bogdanova, Natalia N; Block, Matthew S MS; Benjamin, Elizabeth E; Beesley, Jonathan J; Beckmann, Matthias W MW; Bandera, Elisa V EV; Baglietto, Laura L; Bacot, François F; Armasu, Sebastian M SM; Antonenkova, Natalia N; Anton-Culver, Hoda H; Aben, Katja K KK; Liang, Dong D; Wu, Xifeng X; Lu, Karen K; Hildebrandt, Michelle A T MA; , ; , ; Schildkraut, Joellen M JM; Sellers, Thomas A TA; Huntsman, David D; Berchuck, Andrew A; Chenevix-Trench, Georgia G; Gayther, Simon A SA; Pharoah, Paul D P PD; Laird, Peter W PW; Goode, Ellen L EL; Pearce, Celeste Leigh CL
Publication Date: 2013

Variant appearance in text: rs4239217
PubMed Link: 23535649
Variant Present in the following documents:
  • Main text
  • 41467_2013_BFncomms2629_MOESM447_ESM.pdf
  • 41467_2013_Article_BFncomms2629.pdf
View BVdb publication page



Large-scale fine mapping of the HNF1B locus and prostate cancer risk.

Human Molecular Genetics
Berndt, Sonja I SI; Sampson, Joshua J; Yeager, Meredith M; Jacobs, Kevin B KB; Wang, Zhaoming Z; Hutchinson, Amy A; Chung, Charles C; Orr, Nick N; Wacholder, Sholom S; Chatterjee, Nilanjan N; Yu, Kai K; Kraft, Peter P; Feigelson, Heather Spencer HS; Thun, Michael J MJ; Diver, W Ryan WR; Albanes, Demetrius D; Virtamo, Jarmo J; Weinstein, Stephanie S; Schumacher, Fredrick R FR; Cancel-Tassin, Geraldine G; Cussenot, Olivier O; Valeri, Antoine A; Andriole, Gerald L GL; Crawford, E David ED; Haiman, Christopher C; Henderson, Brian B; Kolonel, Laurence L; Le Marchand, Loic L; Siddiq, Afshan A; Riboli, Elio E; Travis, Ruth C RC; Kaaks, Rudolf R; Isaacs, William W; Isaacs, Sarah S; Wiley, Kathleen E KE; Gronberg, Henrik H; Wiklund, Fredrik F; Stattin, Pär P; Xu, Jianfeng J; Zheng, S Lilly SL; Sun, Jielin J; Vatten, Lars J LJ; Hveem, Kristian K; Njølstad, Inger I; Gerhard, Daniela S DS; Tucker, Margaret M; Hayes, Richard B RB; Hoover, Robert N RN; Fraumeni, Joseph F JF; Hunter, David J DJ; Thomas, Gilles G; Chanock, Stephen J SJ
Publication Date: 2011-08-15

Variant appearance in text: rs4239217
PubMed Link: 21576123
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

Nature Genetics
Spurdle, Amanda B AB; Thompson, Deborah J DJ; Ahmed, Shahana S; Ferguson, Kaltin K; Healey, Catherine S CS; O'Mara, Tracy T; Walker, Logan C LC; Montgomery, Stephen B SB; Dermitzakis, Emmanouil T ET; , ; Fahey, Paul P; Montgomery, Grant W GW; Webb, Penelope M PM; Fasching, Peter A PA; Beckmann, Matthias W MW; Ekici, Arif B AB; Hein, Alexander A; Lambrechts, Diether D; Coenegrachts, Lieve L; Vergote, Ignace I; Amant, Frederic F; Salvesen, Helga B HB; Trovik, Jone J; Njolstad, Tormund S TS; Helland, Harald H; Scott, Rodney J RJ; Ashton, Katie K; Proietto, Tony T; Otton, Geoffrey G; , ; Tomlinson, Ian I; Gorman, Maggie M; Howarth, Kimberley K; Hodgson, Shirley S; Garcia-Closas, Montserrat M; Wentzensen, Nicolas N; Yang, Hannah H; Chanock, Stephen S; Hall, Per P; Czene, Kamila K; Liu, Jianjun J; Li, Jingmei J; Shu, Xiao-Ou XO; Zheng, Wei W; Long, Jirong J; Xiang, Yong-Bing YB; Shah, Mitul M; Morrison, Jonathan J; Michailidou, Kyriaki K; Pharoah, Paul D PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2011-05

Variant appearance in text: rs4239217
PubMed Link: 21499250
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chromosome 17q12 variants contribute to risk of early-onset prostate cancer.

Cancer Research
Levin, Albert M AM; Machiela, Mitchell J MJ; Zuhlke, Kimberly A KA; Ray, Anna M AM; Cooney, Kathleen A KA; Douglas, Julie A JA
Publication Date: 2008-08-15

Variant appearance in text: rs4239217
PubMed Link: 18701471
Variant Present in the following documents:
  • Main text
View BVdb publication page