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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

Antoniou, Antonis C. (author)
Wang, Xianshu (author)
Fredericksen, Zachary S. (author)
show more...
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, Niklas (author)
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
Harbst, Katja (author)
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
Rantala, Johanna (author)
Karolinska Institutet
Ehrencrona, Hans (author)
Uppsala universitet,Uppsala University,Institutionen för genetik och patologi
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)
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 (creator_code:org_t)
2010-09-19
2010
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:10, s. 885-892
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • 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

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Keyword

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

Publication and Content Type

art (subject category)
ref (subject category)

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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...
About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Clinical Medicin ...
and Cancer and Oncol ...
Articles in the publication
Nature Genetics
By the university
Lund University
Karolinska Institutet
Uppsala University

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