• English
    • íslenska
  • English 
    • English
    • íslenska
  • Login
View Item 
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Browse

All of HirslaCommunitiesAuthorsTitleSubjectsSubject (MeSH)Issue DateJournalThis CollectionAuthorsTitleSubjectsSubject (MeSH)Issue DateJournal

My Account

LoginRegister

Local Links

FAQ - (Icelandic)FAQ - (English)Hirsla LogosAbout LandspitaliLSH Home PageLibrary HomeIcelandic Journals

Statistics

Display statistics

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

  • CSV
  • RefMan
  • EndNote
  • BibTex
  • RefWorks
Thumbnail
Name:
10549_2016_Article_4018.pdf
Size:
1.145Mb
Format:
PDF
Download
Average rating
 
   votes
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item. When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
 
Your vote was cast
Thank you for your feedback
Authors
Hamdi, Yosr
Soucy, Penny
Kuchenbaeker, Karoline B
Pastinen, Tomi
Droit, Arnaud
Lemaçon, Audrey
Adlard, Julian
Aittomäki, Kristiina
Andrulis, Irene L
Arason, Adalgeir
Arnold, Norbert
Arun, Banu K
Azzollini, Jacopo
Bane, Anita
Barjhoux, Laure
Barrowdale, Daniel
Benitez, Javier
Berthet, Pascaline
Blok, Marinus J
Bobolis, Kristie
Bonadona, Valérie
Bonanni, Bernardo
Bradbury, Angela R
Brewer, Carole
Buecher, Bruno
Buys, Saundra S
Caligo, Maria A
Chiquette, Jocelyne
Chung, Wendy K
Claes, Kathleen B M
Daly, Mary B
Damiola, Francesca
Davidson, Rosemarie
De la Hoya, Miguel
De Leeneer, Kim
Diez, Orland
Ding, Yuan Chun
Dolcetti, Riccardo
Domchek, Susan M
Dorfling, Cecilia M
Eccles, Diana
Eeles, Ros
Einbeigi, Zakaria
Ejlertsen, Bent
Engel, Christoph
Gareth Evans, D
Feliubadalo, Lidia
Foretova, Lenka
Fostira, Florentia
Foulkes, William D
Fountzilas, George
Friedman, Eitan
Frost, Debra
Ganschow, Pamela
Ganz, Patricia A
Garber, Judy
Gayther, Simon A
Gerdes, Anne-Marie
Glendon, Gord
Godwin, Andrew K
Goldgar, David E
Greene, Mark H
Gronwald, Jacek
Hahnen, Eric
Hamann, Ute
Hansen, Thomas V O
Hart, Steven
Hays, John L
Hogervorst, Frans B L
Hulick, Peter J
Imyanitov, Evgeny N
Isaacs, Claudine
Izatt, Louise
Jakubowska, Anna
James, Paul
Janavicius, Ramunas
Jensen, Uffe Birk
John, Esther M
Joseph, Vijai
Just, Walter
Kaczmarek, Katarzyna
Karlan, Beth Y
Kets, Carolien M
Kirk, Judy
Kriege, Mieke
Laitman, Yael
Laurent, Maïté
Lazaro, Conxi
Leslie, Goska
Lester, Jenny
Lesueur, Fabienne
Liljegren, Annelie
Loman, Niklas
Loud, Jennifer T
Manoukian, Siranoush
Mariani, Milena
Mazoyer, Sylvie
McGuffog, Lesley
Meijers-Heijboer, Hanne E J
Meindl, Alfons
Miller, Austin
Montagna, Marco
Mulligan, Anna Marie
Nathanson, Katherine L
Neuhausen, Susan L
Nevanlinna, Heli
Nussbaum, Robert L
Olah, Edith
Olopade, Olufunmilayo I
Ong, Kai-Ren
Oosterwijk, Jan C
Osorio, Ana
Papi, Laura
Park, Sue Kyung
Pedersen, Inge Sokilde
Peissel, Bernard
Segura, Pedro Perez
Peterlongo, Paolo
Phelan, Catherine M
Radice, Paolo
Rantala, Johanna
Rappaport-Fuerhauser, Christine
Rennert, Gad
Richardson, Andrea
Robson, Mark
Rodriguez, Gustavo C
Rookus, Matti A
Schmutzler, Rita Katharina
Sevenet, Nicolas
Shah, Payal D
Singer, Christian F
Slavin, Thomas P
Snape, Katie
Sokolowska, Johanna
Sønderstrup, Ida Marie Heeholm
Southey, Melissa
Spurdle, Amanda B
Stadler, Zsofia
Stoppa-Lyonnet, Dominique
Sukiennicki, Grzegorz
Sutter, Christian
Tan, Yen
Tea, Muy-Kheng
Teixeira, Manuel R
Teulé, Alex
Teo, Soo-Hwang
Terry, Mary Beth
Thomassen, Mads
Tihomirova, Laima
Tischkowitz, Marc
Tognazzo, Silvia
Toland, Amanda Ewart
Tung, Nadine
van den Ouweland, Ans M W
van der Luijt, Rob B
van Engelen, Klaartje
van Rensburg, Elizabeth J
Varon-Mateeva, Raymonda
Wappenschmidt, Barbara
Wijnen, Juul T
Rebbeck, Timothy
Chenevix-Trench, Georgia
Offit, Kenneth
Couch, Fergus J
Nord, Silje
Easton, Douglas F
Antoniou, Antonis C
Simard, Jacques
Show allShow less
Issue Date
2017-01

Metadata
Show full item record
Citation
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. 2017, 161 (1):117-134 Breast Cancer Res. Treat.
Abstract
Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.
Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2.
We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10(-6)). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance.
We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.
Description
Efst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files
Additional Links
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222911/pdf/10549_2016_Article_4018.pdf
Rights
Archived with thanks to Breast cancer research and treatment
ae974a485f413a2113503eed53cd6c53
10.1007/s10549-016-4018-2
Scopus Count
Collections
English Journal Articles (Peer Reviewed)

entitlement

Related articles

  • Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
  • Authors: Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Robson M, Sherman M, Spurdle AB, Wappenschmidt B, Lee A, McGuffog L, Healey S, Sinilnikova OM, Janavicius R, Hansen Tv, Nielsen FC, Ejlertsen B, Osorio A, Muñoz-Repeto I, Durán M, Godino J, Pertesi M, Benítez J, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Bonanni B, Viel A, Pasini B, Papi L, Ottini L, Savarese A, Bernard L, Radice P, Hamann U, Verheus M, Meijers-Heijboer HE, Wijnen J, Gómez García EB, Nelen MR, Kets CM, Seynaeve C, Tilanus-Linthorst MM, van der Luijt RB, van Os T, Rookus M, Frost D, Jones JL, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Cook J, Donaldson A, Dorkins H, Gregory H, Eason J, Houghton C, Barwell J, Side LE, McCann E, Murray A, Peock S, Godwin AK, Schmutzler RK, Rhiem K, Engel C, Meindl A, Ruehl I, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Kast K, Preisler-Adams S, Varon-Mateeva R, Schoenbuchner I, Fiebig B, Heinritz W, Schäfer D, Gevensleben H, Caux-Moncoutier V, Fassy-Colcombet M, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Hardouin A, Berthet P, Muller D, Fricker JP, Mortemousque I, Pujol P, Coupier I, Lebrun M, Kientz C, Longy M, Sevenet N, Stoppa-Lyonnet D, Isaacs C, Caldes T, de la Hoya M, Heikkinen T, Aittomäki K, Blanco I, Lazaro C, Barkardottir RB, Soucy P, Dumont M, Simard J, Montagna M, Tognazzo S, D'Andrea E, Fox S, Yan M, Rebbeck T, Olopade O, Weitzel JN, Lynch HT, Ganz PA, Tomlinson GE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet M, Bhatia J, Kauff N, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Mai PL, Greene MH, Imyanitov E, O'Malley FP, Ozcelik H, Glendon G, Toland AE, Gerdes AM, Thomassen M, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Soller M, Henriksson K, Wachenfeldt vA, Arver B, Stenmark-Askmalm M, Karlsson P, Ding YC, Neuhausen SL, Beattie M, Pharoah PD, Moysich KB, Nathanson KL, Karlan BY, Gross J, John EM, Daly MB, Buys SM, Southey MC, Hopper JL, Terry MB, Chung W, Miron AF, Goldgar D, Chenevix-Trench G, Easton DF, Andrulis IL, Antoniou AC, Breast Cancer Family Registry., EMBRACE., GEMO Study Collaborators., HEBON., kConFab Investigators., Ontario Cancer Genetics Network., SWE-BRCA., CIMBA.
  • Issue date: 2011
  • Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
  • Authors: Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L, Mulligan AM, Andrulis IL, Spurdle AB, Schmidt MK, Schmutzler RK, Engel C, Wappenschmidt B, Nevanlinna H, Thomassen M, Southey M, Radice P, Ramus SJ, Domchek SM, Nathanson KL, Lee A, Healey S, Nussbaum RL, Rebbeck TR, Arun BK, James P, Karlan BY, Lester J, Cass I, Breast Cancer Family Registry., Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, v O Hansen T, Ejlertsen B, Gerdes AM, Nielsen FC, Dennis J, Cunningham J, Hart S, Slager S, Osorio A, Benitez J, Duran M, Weitzel JN, Tafur I, Hander M, Peterlongo P, Manoukian S, Peissel B, Roversi G, Scuvera G, Bonanni B, Mariani P, Volorio S, Dolcetti R, Varesco L, Papi L, Tibiletti MG, Giannini G, Fostira F, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, EMBRACE Study., Douglas F, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Ong KR, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Ellis S, Godwin AK, Rhiem K, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Steinemann D, Bogdanova-Markov N, Kast K, Varon-Mateeva R, Wang-Gohrke S, Gehrig A, Markiefka B, Buecher B, Lefol C, Stoppa-Lyonnet D, Rouleau E, Prieur F, Damiola F, GEMO Study Collaborators., Barjhoux L, Faivre L, Longy M, Sevenet N, Sinilnikova OM, Mazoyer S, Bonadona V, Caux-Moncoutier V, Isaacs C, Van Maerken T, Claes K, Piedmonte M, Andrews L, Hays J, Rodriguez GC, Caldes T, de la Hoya M, Khan S, Hogervorst FB, Aalfs CM, de Lange JL, Meijers-Heijboer HE, van der Hout AH, Wijnen JT, van Roozendaal KE, Mensenkamp AR, van den Ouweland AM, van Deurzen CH, van der Luijt RB, HEBON., Olah E, Diez O, Lazaro C, Blanco I, Teulé A, Menendez M, Jakubowska A, Lubinski J, Cybulski C, Gronwald J, Jaworska-Bieniek K, Durda K, Arason A, Maugard C, Soucy P, Montagna M, Agata S, Teixeira MR, KConFab Investigators., Olswold C, Lindor N, Pankratz VS, Hallberg E, Wang X, Szabo CI, Vijai J, Jacobs L, Corines M, Lincoln A, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Mai PL, Greene MH, Rennert G, Imyanitov EN, Glendon G, Toland AE, Bojesen A, Pedersen IS, Jensen UB, Caligo MA, Friedman E, Berger R, Laitman Y, Rantala J, Arver B, Loman N, Borg A, Ehrencrona H, Olopade OI, Simard J, Easton DF, Chenevix-Trench G, Offit K, Couch FJ, Antoniou AC, CIMBA.
  • Issue date: 2014 Dec 31
  • An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA).
  • Authors: Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE, CIMBA.
  • Issue date: 2007
  • Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
  • Authors: Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D, EMBRACE., Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C, GEMO., Hogervorst FB, Hooning MJ, Ligtenberg MJ, HEBON., Spurdle A, Chenevix-Trench G, kConFab., Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Domchek SM, Nathanson KL, Rebbeck TR, Singer CF, Gschwantler-Kaulich D, Dressler C, Fink A, Szabo CI, Zikan M, Foretova L, Claes K, Thomas G, Hoover RN, Hunter DJ, Chanock SJ, Easton DF, Antoniou AC, Couch FJ
  • Issue date: 2010 Jul 15
  • Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
  • Authors: Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, Wang X, Eldridge RC, Tessier DC, Vincent D, Bacot F, Hogervorst FB, Peock S, Stoppa-Lyonnet D, KConFab Investigators., Peterlongo P, Schmutzler RK, Nathanson KL, Piedmonte M, Singer CF, Thomassen M, Ontario Cancer Genetics Network., Hansen Tv, Neuhausen SL, Blanco I, Greene MH, Garber J, Weitzel JN, Andrulis IL, Goldgar DE, D'Andrea E, Caldes T, Nevanlinna H, Osorio A, van Rensburg EJ, Arason A, Rennert G, van den Ouweland AM, van der Hout AH, Kets CM, Aalfs CM, Wijnen JT, Ausems MG, HEBON., EMBRACE., Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Jacobs C, Adlard J, Tischkowitz M, Porteous ME, Damiola F, GEMO Study Collaborators., Golmard L, Barjhoux L, Longy M, Belotti M, Ferrer SF, Mazoyer S, Spurdle AB, Manoukian S, Barile M, Genuardi M, Arnold N, Meindl A, Sutter C, Wappenschmidt B, Domchek SM, Pfeiler G, Friedman E, Jensen UB, Robson M, Shah S, Lazaro C, Mai PL, Benitez J, Southey MC, Schmidt MK, Fasching PA, Peto J, Humphreys MK, Wang Q, Michailidou K, Sawyer EJ, Burwinkel B, Guénel P, Bojesen SE, Milne RL, Brenner H, Lochmann M, GENICA Network., Aittomäki K, Dörk T, Margolin S, Mannermaa A, Lambrechts D, Chang-Claude J, Radice P, Giles GG, Haiman CA, Winqvist R, Devillee P, García-Closas M, Schoof N, Hooning MJ, Cox A, Pharoah PD, Jakubowska A, Orr N, González-Neira A, Pita G, Alonso MR, Hall P, Couch FJ, Simard J, Altshuler D, Easton DF, Chenevix-Trench G, Antoniou AC, Offit K
  • Issue date: 2013

DSpace software (copyright © 2002 - 2021)  DuraSpace
Quick Guide | Contact Us
Open Repository is a service operated by 
Atmire NV
 

Export search results

The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.