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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 15717naa a2202437 4500 | |
| 001 | oai:lup.lub.lu.se:de205e2a-c0eb-4400-a4ac-d4c9a2c26b2d | |
| 003 | SwePub | |
| 008 | 161116s2017 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:135054892 | |
| 024 | 7 | a https://lup.lub.lu.se/record/de205e2a-c0eb-4400-a4ac-d4c9a2c26b2d2 URI |
| 024 | 7 | a https://doi.org/10.1007/s10549-016-4018-22 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1350548922 URI |
| 040 | a (SwePub)lud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Hamdi, Yosru Laval University4 aut |
| 245 | 1 0 | a 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 |
| 264 | c 2016-10-28 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2017 |
| 520 | a Purpose: 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. Methods: 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. Results: 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. Conclusion: 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 653 | a BRCA1 and BRCA2 mutation carriers | |
| 653 | a Breast cancer | |
| 653 | a Cis-regulatory variants | |
| 653 | a Differential allelic expression | |
| 653 | a Genetic modifiers | |
| 653 | a Genetic susceptibility | |
| 700 | 1 | a Soucy, Pennyu Laval University4 aut |
| 700 | 1 | a Kuchenbaeker, Karoline B.u Wellcome Trust Sanger Institute4 aut |
| 700 | 1 | a Pastinen, Tomiu McGill University4 aut |
| 700 | 1 | a Droit, Arnaudu Laval University4 aut |
| 700 | 1 | a Lemaçon, Audreyu Laval University4 aut |
| 700 | 1 | a Adlard, Julianu Chapel Allerton Hospital4 aut |
| 700 | 1 | a Aittomäki, Kristiinau Helsinki University Central Hospital4 aut |
| 700 | 1 | a Andrulis, Irene L.u Karolinska Institutet4 aut |
| 700 | 1 | a Arason, Adalgeiru University of Iceland4 aut |
| 700 | 1 | a Arnold, Norbertu University of Kiel4 aut |
| 700 | 1 | a Arun, Banu K.u University of Texas4 aut |
| 700 | 1 | a Azzollini, Jacopou Istituto Nazionale dei Tumori4 aut |
| 700 | 1 | a Bane, Anitau McMaster University4 aut |
| 700 | 1 | a Barjhoux, Laureu Centre Léon Bérard4 aut |
| 700 | 1 | a Barrowdale, Danielu University of Cambridge4 aut |
| 700 | 1 | a Benitez, Javieru Spanish National Cancer Research Center (CNIO)4 aut |
| 700 | 1 | a Berthet, Pascalineu Centre François Baclesse4 aut |
| 700 | 1 | a Blok, Marinus J.u Yukioka Hospital4 aut |
| 700 | 1 | a Bobolis, Kristieu City of Hope National Medical Center4 aut |
| 700 | 1 | a Bonadona, Valérieu Centre Léon Bérard4 aut |
| 700 | 1 | a Bonanni, Bernardou European Institute of Oncology4 aut |
| 700 | 1 | a Bradbury, Angela R.u Cochin Hospital4 aut |
| 700 | 1 | a Brewer, Caroleu Royal Devon & Exeter Hospital4 aut |
| 700 | 1 | a Buecher, Brunou Curie Institute, Paris4 aut |
| 700 | 1 | a Buys, Saundra S.u Huntsman Cancer Institute4 aut |
| 700 | 1 | a Caligo, Maria A.u University Hospital of Pisa4 aut |
| 700 | 1 | a Chiquette, Jocelyneu Hôpital du Saint-Sacrement4 aut |
| 700 | 1 | a Chung, Wendy K.u Columbia University4 aut |
| 700 | 1 | a Claes, Kathleen B Mu Ghent University Hospital4 aut |
| 700 | 1 | a Daly, Mary B.u Fox Chase Cancer Center4 aut |
| 700 | 1 | a Damiola, Francescau Centre Léon Bérard4 aut |
| 700 | 1 | a Davidson, Rosemarieu University of Glasgow4 aut |
| 700 | 1 | a de la Hoya, Miguelu Hospital Clinico San Carlos de Madrid4 aut |
| 700 | 1 | a de Leeneer, Kimu Ghent University Hospital4 aut |
| 700 | 1 | a Diez, Orlandu Vall d'Hebron University Hospital4 aut |
| 700 | 1 | a Ding, Yuan Chunu City of Hope National Medical Center4 aut |
| 700 | 1 | a Dolcetti, Riccardou University of Queensland4 aut |
| 700 | 1 | a Domchek, Susan M.u Cochin Hospital4 aut |
| 700 | 1 | a Dorfling, Cecilia M.u University of Pretoria4 aut |
| 700 | 1 | a Eccles, Dianau University Hospital Southampton4 aut |
| 700 | 1 | a Eeles, Rosu Royal Marsden NHS Foundation Trust4 aut |
| 700 | 1 | a Einbeigi, Zakariau Sahlgrenska University Hospital4 aut |
| 700 | 1 | a Ejlertsen, Bentu Copenhagen University Hospital4 aut |
| 700 | 1 | a Engel, Christophu Leipzig University4 aut |
| 700 | 1 | a Gareth Evans, D.u University of Manchester,Manchester University NHS Foundation Trust4 aut |
| 700 | 1 | a Feliubadalo, Lidiau Catalan Institute of Oncology4 aut |
| 700 | 1 | a Foretova, Lenkau Masaryk Memorial Cancer Institute4 aut |
| 700 | 1 | a Fostira, Florentiau National Centre for Scientific Research Demokritos4 aut |
| 700 | 1 | a Foulkes, William D.u McGill University4 aut |
| 700 | 1 | a Fountzilas, Georgeu Aristotle University of Thessaloniki4 aut |
| 700 | 1 | a Friedman, Eitanu Tel-Aviv University4 aut |
| 700 | 1 | a Frost, Debrau University of Cambridge4 aut |
| 700 | 1 | a Ganschow, Pamelau City of Hope National Medical Center4 aut |
| 700 | 1 | a Ganz, Patricia A.u Jonsson Comprehensive Cancer Center4 aut |
| 700 | 1 | a Garber, Judyu Dana-Farber Cancer Institute4 aut |
| 700 | 1 | a Gayther, Simon A.u University of Southern California4 aut |
| 700 | 1 | a Gemo Study Collaborators, Study Collaboratorsu Paris Descartes University4 aut |
| 700 | 1 | a Gerdes, Anne Marieu Copenhagen University Hospital4 aut |
| 700 | 1 | a Glendon, Gordu Mount Sinai Hospital of University of Toronto4 aut |
| 700 | 1 | a Godwin, Andrew K.u University of Kansas Medical Center4 aut |
| 700 | 1 | a Goldgar, David E.u University of Utah4 aut |
| 700 | 1 | a Greene, Mark H.u National Cancer Institute, USA4 aut |
| 700 | 1 | a Gronwald, Jaceku Pomeranian Medical University4 aut |
| 700 | 1 | a Hahnen, Ericu University Hospital of Cologne4 aut |
| 700 | 1 | a Hamann, Uteu German Cancer Research Centre4 aut |
| 700 | 1 | a Hansen, Thomas V Ou Copenhagen University Hospital4 aut |
| 700 | 1 | a Hart, Stevenu Mayo Clinic Minnesota4 aut |
| 700 | 1 | a Hays, John L.4 aut |
| 700 | 1 | a Hogervorst, Frans B Lu Netherlands Cancer Institute4 aut |
| 700 | 1 | a Hulick, Peter J.u NorthShore University HealthSystem4 aut |
| 700 | 1 | a Imyanitov, Evgeny N.u N. N. Petrov Institute of Oncology4 aut |
| 700 | 1 | a Isaacs, Claudineu Lombardi Comprehensive Cancer Center4 aut |
| 700 | 1 | a Izatt, Louiseu Guy's and St Thomas' NHS Foundation Trust4 aut |
| 700 | 1 | a Jakubowska, Annau Pomeranian Medical University4 aut |
| 700 | 1 | a James, Paulu University of Melbourne4 aut |
| 700 | 1 | a Janavicius, Ramunasu State Research Institute Centre for Innovative Medicine4 aut |
| 700 | 1 | a Jensen, Uffe Birku Aarhus University Hospital4 aut |
| 700 | 1 | a John, Esther M.u Stanford University4 aut |
| 700 | 1 | a Joseph, Vijaiu Memorial Sloan-Kettering Cancer Center4 aut |
| 700 | 1 | a Just, Walteru University of Ulm4 aut |
| 700 | 1 | a Kaczmarek, Katarzynau Pomeranian Medical University4 aut |
| 700 | 1 | a Karlan, Beth Y.u Cedars-Sinai Medical Center4 aut |
| 700 | 1 | a Kconfab Investigators, Investigatorsu Peter MacCallum Cancer Centre4 aut |
| 700 | 1 | a Kets, Carolien M.u Radboud University Nijmegen4 aut |
| 700 | 1 | a Kirk, Judyu Westmead Hospital4 aut |
| 700 | 1 | a Kriege, Miekeu Erasmus University Medical Center4 aut |
| 700 | 1 | a Laitman, Yaelu Sheba Medical Center4 aut |
| 700 | 1 | a Laurent, Maïtéu Curie Institute, Paris4 aut |
| 700 | 1 | a Lazaro, Conxiu Catalan Institute of Oncology4 aut |
| 700 | 1 | a Leslie, Goskau University of Cambridge4 aut |
| 700 | 1 | a Lester, Jennyu Cedars-Sinai Medical Center4 aut |
| 700 | 1 | a Lesueur, Fabienneu PSL University4 aut |
| 700 | 1 | a Liljegren, Annelieu Karolinska University Hospital4 aut |
| 700 | 1 | a Loman, Niklasu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital4 aut0 (Swepub:lu)onk-nlo |
| 700 | 1 | a Loud, Jennifer T.u National Cancer Institute, USA4 aut |
| 700 | 1 | a Manoukian, Siranoushu Istituto Nazionale dei Tumori4 aut |
| 700 | 1 | a Mariani, Milenau Istituto Nazionale dei Tumori4 aut |
| 700 | 1 | a Mazoyer, Sylvieu Centre de Recherche en Cancérologie de Lyon4 aut |
| 700 | 1 | a McGuffog, Lesleyu University of Cambridge4 aut |
| 700 | 1 | a Meijers-Heijboer, Hanne E Ju Amsterdam UMC - Vrije Universiteit Amsterdam4 aut |
| 700 | 1 | a Meindl, Alfonsu University of Kiel4 aut |
| 700 | 1 | a Miller, Austinu Roswell Park Cancer Institute4 aut |
| 700 | 1 | a Montagna, Marcou Veneto Institute of Oncology4 aut |
| 700 | 1 | a Mulligan, Anna Marieu Saint Michael's Hospital4 aut |
| 700 | 1 | a Nathanson, Katherine L.u Cochin Hospital4 aut |
| 700 | 1 | a Neuhausen, Susan L.u City of Hope National Medical Center4 aut |
| 700 | 1 | a Nevanlinna, Heliu Helsinki University Central Hospital4 aut |
| 700 | 1 | a Nussbaum, Robert L.u University of Texas Health Science Centre4 aut |
| 700 | 1 | a Olah, Edithu National Institute of Oncology, Budapest4 aut |
| 700 | 1 | a Olopade, Olufunmilayo I.u University of Chicago4 aut |
| 700 | 1 | a Ong, Kai renu Birmingham Women’s Hospital Healthcare NHS Trust4 aut |
| 700 | 1 | a Oosterwijk, Jan C.u University of Groningen4 aut |
| 700 | 1 | a Osorio, Anau Biomedical Network on Rare Diseases (CIBERER)4 aut |
| 700 | 1 | a Papi, Laurau University of Florence4 aut |
| 700 | 1 | a Park, Sue Kyungu Seoul National University4 aut |
| 700 | 1 | a Pedersen, Inge Sokildeu Aalborg University Hospital4 aut |
| 700 | 1 | a Peissel, Bernardu Istituto Nazionale dei Tumori4 aut |
| 700 | 1 | a Segura, Pedro Perezu Hospital Clinico San Carlos de Madrid4 aut |
| 700 | 1 | a Peterlongo, Paolou IFOM - The FIRC Institute of Molecular Oncology4 aut |
| 700 | 1 | a Phelan, Catherine M.u H. Lee Moffitt Cancer Center & Research Institute4 aut |
| 700 | 1 | a Radice, Paolou Istituto Nazionale dei Tumori4 aut |
| 700 | 1 | a Rantala, Johannau Karolinska Institutet4 aut |
| 700 | 1 | a Rappaport-Fuerhauser, Christineu Medical University of Vienna4 aut |
| 700 | 1 | a Rennert, Gadu Carmel Medical Center4 aut |
| 700 | 1 | a Richardson, Andreau Johns Hopkins University School of Medicine4 aut |
| 700 | 1 | a Robson, Marku Memorial Sloan-Kettering Cancer Center4 aut |
| 700 | 1 | a Rodriguez, Gustavo C.u NorthShore University HealthSystem4 aut |
| 700 | 1 | a Rookus, Matti A.u Netherlands Cancer Institute4 aut |
| 700 | 1 | a Schmutzler, Rita Katharinau University Hospital of Cologne4 aut |
| 700 | 1 | a Sevenet, Nicolasu Institut Bergoníe4 aut |
| 700 | 1 | a Shah, Payal D.u Cochin Hospital4 aut |
| 700 | 1 | a Singer, Christian F.u Medical University of Vienna4 aut |
| 700 | 1 | a Slavin, Thomas P.u City of Hope National Medical Center4 aut |
| 700 | 1 | a Snape, Katieu University of London4 aut |
| 700 | 1 | a Sokolowska, Johannau University Hospital of Nancy4 aut |
| 700 | 1 | a Sønderstrup, Ida Marie Heeholmu Slagelse Hospital4 aut |
| 700 | 1 | a Southey, Melissau University of Melbourne4 aut |
| 700 | 1 | a Spurdle, Amanda B.u QIMR Berghofer Medical Research Institute4 aut |
| 700 | 1 | a Stadler, Zsofiau Memorial Sloan-Kettering Cancer Center4 aut |
| 700 | 1 | a Stoppa-Lyonnet, Dominiqueu Curie Institute, Paris4 aut |
| 700 | 1 | a Sukiennicki, Grzegorzu Pomeranian Medical University4 aut |
| 700 | 1 | a Sutter, Christianu University Hospital Heidelberg4 aut |
| 700 | 1 | a Tan, Yenu Medical University of Vienna4 aut |
| 700 | 1 | a Tea, Muy Khengu Medical University of Vienna4 aut |
| 700 | 1 | a Teixeira, Manuel R.u University of Porto4 aut |
| 700 | 1 | a Teulé, Alexu Catalan Institute of Oncology4 aut |
| 700 | 1 | a Teo, Soo Hwangu University of Malaya4 aut |
| 700 | 1 | a Terry, Mary Bethu Columbia University4 aut |
| 700 | 1 | a Thomassen, Madsu Odense University Hospital4 aut |
| 700 | 1 | a Tihomirova, Laimau Latvian Biomedical Research and Study Centre4 aut |
| 700 | 1 | a Tischkowitz, Marcu Addenbrooke's Hospital4 aut |
| 700 | 1 | a Tognazzo, Silviau Veneto Institute of Oncology4 aut |
| 700 | 1 | a Toland, Amanda Ewartu Ohio State University4 aut |
| 700 | 1 | a Tung, Nadineu Beth Israel Deaconess Medical Center4 aut |
| 700 | 1 | a van Den Ouweland, Ans M Wu Erasmus University Medical Center4 aut |
| 700 | 1 | a van der Luijt, Rob B.u University Medical Center Utrecht4 aut |
| 700 | 1 | a van Engelen, Klaartjeu Academic Medical Center of University of Amsterdam (AMC)4 aut |
| 700 | 1 | a van Rensburg, Elizabeth J.u University of Pretoria4 aut |
| 700 | 1 | a Varon-Mateeva, Raymondau Charité - University Medicine Berlin4 aut |
| 700 | 1 | a Wappenschmidt, Barbarau University Hospital of Cologne4 aut |
| 700 | 1 | a Wijnen, Juul T.u Leiden University Medical Centre4 aut |
| 700 | 1 | a Rebbeck, Timothyu University of Pennsylvania4 aut |
| 700 | 1 | a Chenevix-Trench, Georgiau QIMR Berghofer Medical Research Institute4 aut |
| 700 | 1 | a Offit, Kennethu Memorial Sloan-Kettering Cancer Center4 aut |
| 700 | 1 | a Couch, Fergus J.u Mayo Clinic Minnesota4 aut |
| 700 | 1 | a Nord, Siljeu Oslo university hospital4 aut |
| 700 | 1 | a Easton, Douglas F.u University of Cambridge4 aut |
| 700 | 1 | a Antoniou, Antonis C.u University of Cambridge4 aut |
| 700 | 1 | a Simard, Jacquesu Laval University4 aut |
| 710 | 2 | a Laval Universityb Wellcome Trust Sanger Institute4 org |
| 773 | 0 | t Breast Cancer Research and Treatmentd : Springer Science and Business Media LLCg 161:1, s. 117-134q 161:1<117-134x 0167-6806x 1573-7217 |
| 856 | 4 | u http://dx.doi.org/10.1007/s10549-016-4018-2x freey FULLTEXT |
| 856 | 4 | u https://link.springer.com/content/pdf/10.1007%2Fs10549-016-4018-2.pdf |
| 856 | 4 8 | u https://lup.lub.lu.se/record/de205e2a-c0eb-4400-a4ac-d4c9a2c26b2d |
| 856 | 4 8 | u https://doi.org/10.1007/s10549-016-4018-2 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:135054892 |
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