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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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; Wang, Xianshu; Fredericksen Zachary, S; McGuffog, Lesley; Tarrell, Robert; Sinilnikova, Olga M; Healey, Sue; Morrison, Jonathan; Kartsonaki, Christiana; Lesnick, Timothy; Ghoussaini, Maya; Barrowdale, Daniel; EMBRACE, [Unbekannt]; 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, Dominique; Houdayer, Claude; Mazoyer, Sylvie; Giraud, Sophie; Lasset, Christine; Remenieras, Audrey; Caron, Olivier; Hardouin, Agnès; Berthet, Pascaline; Collaborators, GEMO Study; Hogervorst Frans, B L; Rookus, Matti A; Jager, Agnes; van den Ouweland, Ans; Hoogerbrugge, Nicoline; van der Luijt Rob, B; Meijers-Heijboer, Hanne; Gómez García Encarna, B; HEBON, [Unbekannt]; Devilee, Peter; Vreeswijk, Maaike P G; Lubinski, Jan; Jakubowska, Anna; Gronwald, Jacek; Huzarski, Tomasz; Byrski, Tomasz; Górski, Bohdan; Cybulski, Cezary; Spurdle Amanda, B; Holland, Helene; Goldgar, David E; John, Esther M; Hopper, John L; Southey, Melissa; Buys Saundra, S; Daly Mary, B; Terry, Mary-Beth; Schmutzler, Rita K; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Preisler-Adams, Sabine; Arnold, Norbert; Niederacher, Dieter; Sutter, Christian; Domchek, Susan M; Nathanson, Katherine L; Rebbeck, Timothy; Blum Joanne, L; Piedmonte, Marion; Rodriguez Gustavo, C; Wakeley, Katie; Boggess, John F; Basil, Jack; Blank, Stephanie V; Friedman, Eitan; Kaufman, Bella; Laitman, Yael; Milgrom, Roni; Andrulis, Irene L; Glendon, Gord; Ozcelik, Hilmi; Kirchhoff, Tomas; Vijai, Joseph; Gaudet Mia, M; Altshuler, David; Guiducci, Candace; SWE-BRCA, [Unbekannt]; Loman, Niklas; Harbst, Katja; Rantala, Johanna; Ehrencrona, Hans; Gerdes, Anne-Marie; Thomassen, Mads; Sunde, Lone; Peterlongo, Paolo; Manoukian, Siranoush; Bonanni, Bernardo; Viel, Alessandra; Radice, Paolo; Caldes, Trinidad; de La Hoya, Miguel; Singer, Christian F; Fink-Retter, Anneliese; Greene, Mark H; Mai Phuong, L; Loud, Jennifer T; Guidugli, Lucia; Lindor Noralane, M; Hansen, Thomas V O; Nielsen Finn, C; Blanco, Ignacio; Lazaro, Conxi; Garber, Judy; Ramus, Susan J; Gayther, Simon A; Phelan, Catherine; Narod, Stephen; Szabo Csilla, I; MOD, SQUAD; Benitez, Javier; Osorio, Ana; Nevanlinna, Heli; Heikkinen, Tuomas; Caligo, Maria A; Beattie Mary, S; Hamann, Ute; Godwin, Andrew K; Montagna, Marco; Casella, Cinzia; Neuhausen, Susan L; Karlan Beth, Y; Tung, Nadine; Toland Amanda, E; Weitzel, Jeffrey; Olopade, Olofunmilayo; Simard, Jacques; Soucy, Penny; Rubinstein Wendy, S; Arason, Adalgeir; Rennert, Gad; Martin, Nicholas G; Montgomery Grant, W; Chang-Claude, Jenny; Flesch-Janys, Dieter; Flesch-Janys, Dieter; GENICA, [Unbekannt]; Severi, Gianluca; Baglietto, Laura; Cox, Angela; Cross, Simon S; Miron, Penelope; Gerty Sue, M; Tapper, William; Yannoukakos, Drakoulis; Fountzilas, George; Fasching, Peter A; Beckmann, Matthias W; Isabel, Dos Santos Silva; Peto, Julian; Lambrechts, Diether; Paridaens, Robert; Rüdiger, Thomas; Försti, Asta; Winqvist, Robert; Pylkäs, Katri; Diasio, Robert B; Lee, Adam M; Eckel-Passow, Jeanette; Vachon, Celine; Blows, Fiona; Driver, Kristy; Dunning, Alison; Pharoah, Paul P D; Offit, Kenneth; Pankratz, V Shane; Hakonarson, Hakon; Chenevix-Trench, Georgia; Easton Douglas, F; Couch Fergus, J.
in: NAT GENET, Jahrgang 42, Nr. 10, 10, 2010, S. 885-892.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - 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.
AU - Antoniou Antonis, C
AU - Wang, Xianshu
AU - Fredericksen Zachary, S
AU - McGuffog, Lesley
AU - Tarrell, Robert
AU - Sinilnikova, Olga M
AU - Healey, Sue
AU - Morrison, Jonathan
AU - Kartsonaki, Christiana
AU - Lesnick, Timothy
AU - Ghoussaini, Maya
AU - Barrowdale, Daniel
AU - EMBRACE, [Unbekannt]
AU - Peock, Susan
AU - Cook, Margaret
AU - Oliver, Clare
AU - Frost, Debra
AU - Eccles, Diana
AU - Evans, D Gareth
AU - Eeles, Ros
AU - Izatt, Louise
AU - Chu, Carol
AU - Douglas, Fiona
AU - Paterson, Joan
AU - Stoppa-Lyonnet, Dominique
AU - Houdayer, Claude
AU - Mazoyer, Sylvie
AU - Giraud, Sophie
AU - Lasset, Christine
AU - Remenieras, Audrey
AU - Caron, Olivier
AU - Hardouin, Agnès
AU - Berthet, Pascaline
AU - Collaborators, GEMO Study
AU - Hogervorst Frans, B L
AU - Rookus, Matti A
AU - Jager, Agnes
AU - van den Ouweland, Ans
AU - Hoogerbrugge, Nicoline
AU - van der Luijt Rob, B
AU - Meijers-Heijboer, Hanne
AU - Gómez García Encarna, B
AU - HEBON, [Unbekannt]
AU - Devilee, Peter
AU - Vreeswijk, Maaike P G
AU - Lubinski, Jan
AU - Jakubowska, Anna
AU - Gronwald, Jacek
AU - Huzarski, Tomasz
AU - Byrski, Tomasz
AU - Górski, Bohdan
AU - Cybulski, Cezary
AU - Spurdle Amanda, B
AU - Holland, Helene
AU - Goldgar, David E
AU - John, Esther M
AU - Hopper, John L
AU - Southey, Melissa
AU - Buys Saundra, S
AU - Daly Mary, B
AU - Terry, Mary-Beth
AU - Schmutzler, Rita K
AU - Wappenschmidt, Barbara
AU - Engel, Christoph
AU - Meindl, Alfons
AU - Preisler-Adams, Sabine
AU - Arnold, Norbert
AU - Niederacher, Dieter
AU - Sutter, Christian
AU - Domchek, Susan M
AU - Nathanson, Katherine L
AU - Rebbeck, Timothy
AU - Blum Joanne, L
AU - Piedmonte, Marion
AU - Rodriguez Gustavo, C
AU - Wakeley, Katie
AU - Boggess, John F
AU - Basil, Jack
AU - Blank, Stephanie V
AU - Friedman, Eitan
AU - Kaufman, Bella
AU - Laitman, Yael
AU - Milgrom, Roni
AU - Andrulis, Irene L
AU - Glendon, Gord
AU - Ozcelik, Hilmi
AU - Kirchhoff, Tomas
AU - Vijai, Joseph
AU - Gaudet Mia, M
AU - Altshuler, David
AU - Guiducci, Candace
AU - SWE-BRCA, [Unbekannt]
AU - Loman, Niklas
AU - Harbst, Katja
AU - Rantala, Johanna
AU - Ehrencrona, Hans
AU - Gerdes, Anne-Marie
AU - Thomassen, Mads
AU - Sunde, Lone
AU - Peterlongo, Paolo
AU - Manoukian, Siranoush
AU - Bonanni, Bernardo
AU - Viel, Alessandra
AU - Radice, Paolo
AU - Caldes, Trinidad
AU - de La Hoya, Miguel
AU - Singer, Christian F
AU - Fink-Retter, Anneliese
AU - Greene, Mark H
AU - Mai Phuong, L
AU - Loud, Jennifer T
AU - Guidugli, Lucia
AU - Lindor Noralane, M
AU - Hansen, Thomas V O
AU - Nielsen Finn, C
AU - Blanco, Ignacio
AU - Lazaro, Conxi
AU - Garber, Judy
AU - Ramus, Susan J
AU - Gayther, Simon A
AU - Phelan, Catherine
AU - Narod, Stephen
AU - Szabo Csilla, I
AU - MOD, SQUAD
AU - Benitez, Javier
AU - Osorio, Ana
AU - Nevanlinna, Heli
AU - Heikkinen, Tuomas
AU - Caligo, Maria A
AU - Beattie Mary, S
AU - Hamann, Ute
AU - Godwin, Andrew K
AU - Montagna, Marco
AU - Casella, Cinzia
AU - Neuhausen, Susan L
AU - Karlan Beth, Y
AU - Tung, Nadine
AU - Toland Amanda, E
AU - Weitzel, Jeffrey
AU - Olopade, Olofunmilayo
AU - Simard, Jacques
AU - Soucy, Penny
AU - Rubinstein Wendy, S
AU - Arason, Adalgeir
AU - Rennert, Gad
AU - Martin, Nicholas G
AU - Montgomery Grant, W
AU - Chang-Claude, Jenny
AU - Flesch-Janys, Dieter
AU - Flesch-Janys, Dieter
AU - GENICA, [Unbekannt]
AU - Severi, Gianluca
AU - Baglietto, Laura
AU - Cox, Angela
AU - Cross, Simon S
AU - Miron, Penelope
AU - Gerty Sue, M
AU - Tapper, William
AU - Yannoukakos, Drakoulis
AU - Fountzilas, George
AU - Fasching, Peter A
AU - Beckmann, Matthias W
AU - Isabel, Dos Santos Silva
AU - Peto, Julian
AU - Lambrechts, Diether
AU - Paridaens, Robert
AU - Rüdiger, Thomas
AU - Försti, Asta
AU - Winqvist, Robert
AU - Pylkäs, Katri
AU - Diasio, Robert B
AU - Lee, Adam M
AU - Eckel-Passow, Jeanette
AU - Vachon, Celine
AU - Blows, Fiona
AU - Driver, Kristy
AU - Dunning, Alison
AU - Pharoah, Paul P D
AU - Offit, Kenneth
AU - Pankratz, V Shane
AU - Hakonarson, Hakon
AU - Chenevix-Trench, Georgia
AU - Easton Douglas, F
AU - Couch Fergus, J
PY - 2010
Y1 - 2010
N2 - 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 × 10 ? ? to P(trend) = 3.9 × 10 ? ? ), 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 (P(trend) = 1 × 10 ? ? ) to P(trend) = 8 × 10 ? ? ; rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P(trend) = 1.1 × 10 ? ?
AB - 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 × 10 ? ? to P(trend) = 3.9 × 10 ? ? ), 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 (P(trend) = 1 × 10 ? ? ) to P(trend) = 8 × 10 ? ? ; rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P(trend) = 1.1 × 10 ? ?
KW - Adult
KW - Humans
KW - Female
KW - Genotype
KW - Genetic Predisposition to Disease
KW - Mutation genetics
KW - BRCA1 Protein genetics
KW - Case-Control Studies
KW - Polymorphism, Single Nucleotide genetics
KW - Receptor, erbB-2 genetics
KW - Breast Neoplasms genetics
KW - Chromosomes, Human, Pair 19 genetics
KW - Receptors, Estrogen genetics
KW - Receptors, Progesterone genetics
KW - Adult
KW - Humans
KW - Female
KW - Genotype
KW - Genetic Predisposition to Disease
KW - Mutation genetics
KW - BRCA1 Protein genetics
KW - Case-Control Studies
KW - Polymorphism, Single Nucleotide genetics
KW - Receptor, erbB-2 genetics
KW - Breast Neoplasms genetics
KW - Chromosomes, Human, Pair 19 genetics
KW - Receptors, Estrogen genetics
KW - Receptors, Progesterone genetics
M3 - SCORING: Zeitschriftenaufsatz
VL - 42
SP - 885
EP - 892
JO - NAT GENET
JF - NAT GENET
SN - 1061-4036
IS - 10
M1 - 10
ER -