A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

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Antoniou, Antonis C. (author)

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

Article/chapterEnglish2010

Publisher, publication year, extent ...

2010-09-19
Springer Science and Business Media LLC,2010

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LIBRIS-ID:oai:lup.lub.lu.se:e3b8ea03-2f13-4a39-ab70-4acd450f7cad
https://lup.lub.lu.se/record/1694599URI
https://doi.org/10.1038/ng.669DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:121345334URI
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-134677URI

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Language:English
Summary in:English

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Subject category:ref swepub-contenttype

Notes

Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P-trend = 2.3 x 10(-9) to Ptrend = 3.9 x 10(-7)), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P-trend = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P-trend = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (Ptrend = 1 x 10(-7) to Ptrend = 8 x 10(-5); rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P-trend = 1.1 x 10(-7)).

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Cancer och onkologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology hsv//eng
Mutation
Humans
Genotype
Genetic Predisposition to Disease
Female
Pair 19
Human
Chromosomes
Case-Control Studies
Breast Neoplasms
Adult
BRCA1 Protein
Polymorphism
Single Nucleotide
Receptor
erbB-2
Receptors
Estrogen
Progesterone
MEDICINE

Added entries (persons, corporate bodies, meetings, titles ...)

Wang, Xianshu (author)
Fredericksen, Zachary S. (author)
McGuffog, Lesley (author)
Tarrell, Robert (author)
Sinilnikova, Olga M. (author)
Healey, Sue (author)
Morrison, Jonathan (author)
Kartsonaki, Christiana (author)
Lesnick, Timothy (author)
Ghoussaini, Maya (author)
Barrowdale, Daniel (author)
Peock, Susan (author)
Cook, Margaret (author)
Oliver, Clare (author)
Frost, Debra (author)
Eccles, Diana (author)
Evans, D. Gareth (author)
Eeles, Ros (author)
Izatt, Louise (author)
Chu, Carol (author)
Douglas, Fiona (author)
Paterson, Joan (author)
Stoppa-Lyonnet, Dominique (author)
Houdayer, Claude (author)
Mazoyer, Sylvie (author)
Giraud, Sophie (author)
Lasset, Christine (author)
Remenieras, Audrey (author)
Caron, Olivier (author)
Hardouin, Agnes (author)
Berthet, Pascaline (author)
Hogervorst, Frans B. L. (author)
Rookus, Matti A. (author)
Jager, Agnes (author)
van den Ouweland, Ans (author)
Hoogerbrugge, Nicoline (author)
van der Luijt, Rob B. (author)
Meijers-Heijboer, Hanne (author)
Garcia, Encarna B. Gomez (author)
Devilee, Peter (author)
Vreeswijk, Maaike P. G. (author)
Lubinski, Jan (author)
Jakubowska, Anna (author)
Gronwald, Jacek (author)
Huzarski, Tomasz (author)
Byrski, Tomasz (author)
Gorski, Bohdan (author)
Cybulski, Cezary (author)
Spurdle, Amanda B. (author)
Holland, Helene (author)
Goldgar, David E. (author)
John, Esther M. (author)
Hopper, John L. (author)
Southey, Melissa (author)
Buys, Saundra S. (author)
Daly, Mary B. (author)
Terry, Mary-Beth (author)
Schmutzler, Rita K. (author)
Wappenschmidt, Barbara (author)
Engel, Christoph (author)
Meindl, Alfons (author)
Preisler-Adams, Sabine (author)
Arnold, Norbert (author)
Niederacher, Dieter (author)
Sutter, Christian (author)
Domchek, Susan M. (author)
Nathanson, Katherine L. (author)
Rebbeck, Timothy (author)
Blum, Joanne L. (author)
Piedmonte, Marion (author)
Rodriguez, Gustavo C. (author)
Wakeley, Katie (author)
Boggess, John F. (author)
Basil, Jack (author)
Blank, Stephanie V. (author)
Friedman, Eitan (author)
Kaufman, Bella (author)
Laitman, Yael (author)
Milgrom, Roni (author)
Andrulis, Irene L. (author)
Glendon, Gord (author)
Ozcelik, Hilmi (author)
Kirchhoff, Tomas (author)
Vijai, Joseph (author)
Gaudet, Mia M. (author)
Altshuler, David (author)
Guiducci, Candace (author)
Loman, NiklasLund 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(Swepub:lu)onk-nlo (author)
Harbst, KatjaLund 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(Swepub:lu)med-kbn (author)
Rantala, JohannaKarolinska Institutet (author)
Ehrencrona, HansUppsala universitet,Uppsala University,Institutionen för genetik och patologi(Swepub:lu)med-hen (author)
Gerdes, Anne-Marie (author)
Thomassen, Mads (author)
Sunde, Lone (author)
Peterlongo, Paolo (author)
Manoukian, Siranoush (author)
Bonanni, Bernardo (author)
Viel, Alessandra (author)
Radice, Paolo (author)
Caldes, Trinidad (author)
de la Hoya, Miguel (author)
Singer, Christian F. (author)
Fink-Retter, Anneliese (author)
Greene, Mark H. (author)
Mai, Phuong L. (author)
Loud, Jennifer T. (author)
Guidugli, Lucia (author)
Lindor, Noralane M. (author)
Hansen, Thomas V. O. (author)
Nielsen, Finn C. (author)
Blanco, Ignacio (author)
Lazaro, Conxi (author)
Garber, Judy (author)
Ramus, Susan J. (author)
Gayther, Simon A. (author)
Phelan, Catherine (author)
Narod, Stephen (author)
Szabo, Csilla I. (author)
Benitez, Javier (author)
Osorio, Ana (author)
Nevanlinna, Heli (author)
Heikkinen, Tuomas (author)
Caligo, Maria A. (author)
Beattie, Mary S. (author)
Hamann, Ute (author)
Godwin, Andrew K. (author)
Montagna, Marco (author)
Casella, Cinzia (author)
Neuhausen, Susan L. (author)
Karlan, Beth Y. (author)
Tung, Nadine (author)
Toland, Amanda E. (author)
Weitzel, Jeffrey (author)
Olopade, Olofunmilayo (author)
Simard, Jacques (author)
Soucy, Penny (author)
Rubinstein, Wendy S. (author)
Arason, Adalgeir (author)
Rennert, Gad (author)
Martin, Nicholas G. (author)
Montgomery, Grant W. (author)
Chang-Claude, Jenny (author)
Flesch-Janys, Dieter (author)
Brauch, Hiltrud (author)
Severi, Gianluca (author)
Baglietto, Laura (author)
Cox, Angela (author)
Cross, Simon S. (author)
Miron, Penelope (author)
Gerty, Sue M. (author)
Tapper, William (author)
Yannoukakos, Drakoulis (author)
Fountzilas, George (author)
Fasching, Peter A. (author)
Beckmann, Matthias W. (author)
Silva, Isabel dos Santos (author)
Peto, Julian (author)
Lambrechts, Diether (author)
Paridaens, Robert (author)
Ruediger, Thomas (author)
Foersti, Asta (author)
Winqvist, Robert (author)
Pylkaes, Katri (author)
Diasio, Robert B. (author)
Lee, Adam M. (author)
Eckel-Passow, Jeanette (author)
Vachon, Celine (author)
Blows, Fiona (author)
Driver, Kristy (author)
Dunning, Alison (author)
Pharoah, Paul P. D. (author)
Offit, Kenneth (author)
Pankratz, V. Shane (author)
Hakonarson, Hakon (author)
Chenevix-Trench, Georgia (author)
Easton, Douglas F. (author)
Couch, Fergus J. (author)
Bröstcancer-genetikSektion I (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC42:10, s. 885-8921546-17181061-4036

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By the author/editor: Antoniou, Antoni ...; Wang, Xianshu; Fredericksen, Za ...; McGuffog, Lesley; Tarrell, Robert; Sinilnikova, Olg ...; show more...; Healey, Sue; Morrison, Jonath ...; Kartsonaki, Chri ...; Lesnick, Timothy; Ghoussaini, Maya; Barrowdale, Dani ...; Peock, Susan; Cook, Margaret; Oliver, Clare; Frost, Debra; Eccles, Diana; Evans, D. Gareth; Eeles, Ros; Izatt, Louise; Chu, Carol; Douglas, Fiona; Paterson, Joan; Stoppa-Lyonnet, ...; Houdayer, Claude; Mazoyer, Sylvie; Giraud, Sophie; Lasset, Christin ...; Remenieras, Audr ...; Caron, Olivier; Hardouin, Agnes; Berthet, Pascali ...; Hogervorst, Fran ...; Rookus, Matti A.; Jager, Agnes; van den Ouweland ...; Hoogerbrugge, Ni ...; van der Luijt, R ...; Meijers-Heijboer ...; Garcia, Encarna ...; Devilee, Peter; Vreeswijk, Maaik ...; Lubinski, Jan; Jakubowska, Anna; Gronwald, Jacek; Huzarski, Tomasz; Byrski, Tomasz; Gorski, Bohdan; Cybulski, Cezary; Spurdle, Amanda ...; Holland, Helene; Goldgar, David E ...; John, Esther M.; Hopper, John L.; Southey, Melissa; Buys, Saundra S.; Daly, Mary B.; Terry, Mary-Beth; Schmutzler, Rita ...; Wappenschmidt, B ...; Engel, Christoph; Meindl, Alfons; Preisler-Adams, ...; Arnold, Norbert; Niederacher, Die ...; Sutter, Christia ...; Domchek, Susan M ...; Nathanson, Kathe ...; Rebbeck, Timothy; Blum, Joanne L.; Piedmonte, Mario ...; Rodriguez, Gusta ...; Wakeley, Katie; Boggess, John F.; Basil, Jack; Blank, Stephanie ...; Friedman, Eitan; Kaufman, Bella; Laitman, Yael; Milgrom, Roni; Andrulis, Irene ...; Glendon, Gord; Ozcelik, Hilmi; Kirchhoff, Tomas; Vijai, Joseph; Gaudet, Mia M.; Altshuler, David; Guiducci, Candac ...; Loman, Niklas; Harbst, Katja; Rantala, Johanna; Ehrencrona, Hans; Gerdes, Anne-Mar ...; Thomassen, Mads; Sunde, Lone; Peterlongo, Paol ...; Manoukian, Siran ...; Bonanni, Bernard ...; Viel, Alessandra; Radice, Paolo; Caldes, Trinidad; de la Hoya, Migu ...; Singer, Christia ...; Fink-Retter, Ann ...; Greene, Mark H.; Mai, Phuong L.; Loud, Jennifer T ...; Guidugli, Lucia; Lindor, Noralane ...; Hansen, Thomas V ...; Nielsen, Finn C.; Blanco, Ignacio; Lazaro, Conxi; Garber, Judy; Ramus, Susan J.; Gayther, Simon A ...; Phelan, Catherin ...; Narod, Stephen; Szabo, Csilla I.; Benitez, Javier; Osorio, Ana; Nevanlinna, Heli; Heikkinen, Tuoma ...; Caligo, Maria A.; Beattie, Mary S.; Hamann, Ute; Godwin, Andrew K ...; Montagna, Marco; Casella, Cinzia; Neuhausen, Susan ...; Karlan, Beth Y.; Tung, Nadine; Toland, Amanda E ...; Weitzel, Jeffrey; Olopade, Olofunm ...; Simard, Jacques; Soucy, Penny; Rubinstein, Wend ...; Arason, Adalgeir; Rennert, Gad; Martin, Nicholas ...; Montgomery, Gran ...; Chang-Claude, Je ...; Flesch-Janys, Di ...; Brauch, Hiltrud; Severi, Gianluca; Baglietto, Laura; Cox, Angela; Cross, Simon S.; Miron, Penelope; Gerty, Sue M.; Tapper, William; Yannoukakos, Dra ...; Fountzilas, Geor ...; Fasching, Peter ...; Beckmann, Matthi ...; Silva, Isabel do ...; Peto, Julian; Lambrechts, Diet ...; Paridaens, Rober ...; Ruediger, Thomas; Foersti, Asta; Winqvist, Robert; Pylkaes, Katri; Diasio, Robert B ...; Lee, Adam M.; Eckel-Passow, Je ...; Vachon, Celine; Blows, Fiona; Driver, Kristy; Dunning, Alison; Pharoah, Paul P. ...; Offit, Kenneth; Pankratz, V. Sha ...; Hakonarson, Hako ...; Chenevix-Trench, ...; Easton, Douglas ...; Couch, Fergus J.; show less...

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