Research ExplorerPublicationsA locus on 19p13 modifies risk of breast cancer in BRCA1 mut...

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, Vol. 42, No. 10, 10, 2010, p. 885-892.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Antoniou Antonis, C, Wang, X, Fredericksen Zachary, S, McGuffog, L, Tarrell, R, Sinilnikova, OM, Healey, S, Morrison, J, Kartsonaki, C, Lesnick, T, Ghoussaini, M, Barrowdale, D, EMBRACE, U, Peock, S, Cook, M, Oliver, C, Frost, D, Eccles, D, Evans, DG, Eeles, R, Izatt, L, Chu, C, Douglas, F, Paterson, J, Stoppa-Lyonnet, D, Houdayer, C, Mazoyer, S, Giraud, S, Lasset, C, Remenieras, A, Caron, O, Hardouin, A, Berthet, P, Collaborators, GEMOS, Hogervorst Frans, BL, Rookus, MA, Jager, A, van den Ouweland, A, Hoogerbrugge, N, van der Luijt Rob, B, Meijers-Heijboer, H, Gómez García Encarna, B, HEBON, U, Devilee, P, Vreeswijk, MPG, Lubinski, J, Jakubowska, A, Gronwald, J, Huzarski, T, Byrski, T, Górski, B, Cybulski, C, Spurdle Amanda, B, Holland, H, Goldgar, DE, John, EM, Hopper, JL, Southey, M, Buys Saundra, S, Daly Mary, B, Terry, M-B, Schmutzler, RK, Wappenschmidt, B, Engel, C, Meindl, A, Preisler-Adams, S, Arnold, N, Niederacher, D, Sutter, C, Domchek, SM, Nathanson, KL, Rebbeck, T, Blum Joanne, L, Piedmonte, M, Rodriguez Gustavo, C, Wakeley, K, Boggess, JF, Basil, J, Blank, SV, Friedman, E, Kaufman, B, Laitman, Y, Milgrom, R, Andrulis, IL, Glendon, G, Ozcelik, H, Kirchhoff, T, Vijai, J, Gaudet Mia, M, Altshuler, D, Guiducci, C, SWE-BRCA, U, Loman, N, Harbst, K, Rantala, J, Ehrencrona, H, Gerdes, A-M, Thomassen, M, Sunde, L, Peterlongo, P, Manoukian, S, Bonanni, B, Viel, A, Radice, P, Caldes, T, de La Hoya, M, Singer, CF, Fink-Retter, A, Greene, MH, Mai Phuong, L, Loud, JT, Guidugli, L, Lindor Noralane, M, Hansen, TVO, Nielsen Finn, C, Blanco, I, Lazaro, C, Garber, J, Ramus, SJ, Gayther, SA, Phelan, C, Narod, S, Szabo Csilla, I, MOD, SQUAD, Benitez, J, Osorio, A, Nevanlinna, H, Heikkinen, T, Caligo, MA, Beattie Mary, S, Hamann, U, Godwin, AK, Montagna, M, Casella, C, Neuhausen, SL, Karlan Beth, Y, Tung, N, Toland Amanda, E, Weitzel, J, Olopade, O, Simard, J, Soucy, P, Rubinstein Wendy, S, Arason, A, Rennert, G, Martin, NG, Montgomery Grant, W, Chang-Claude, J, Flesch-Janys, D, Flesch-Janys, D, GENICA, U, Severi, G, Baglietto, L, Cox, A, Cross, SS, Miron, P, Gerty Sue, M, Tapper, W, Yannoukakos, D, Fountzilas, G, Fasching, PA, Beckmann, MW, Isabel, DSS, Peto, J, Lambrechts, D, Paridaens, R, Rüdiger, T, Försti, A, Winqvist, R, Pylkäs, K, Diasio, RB, Lee, AM, Eckel-Passow, J, Vachon, C, Blows, F, Driver, K, Dunning, A, Pharoah, PPD, Offit, K, Pankratz, VS, Hakonarson, H, Chenevix-Trench, G, Easton Douglas, F & Couch Fergus, J 2010, '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.', NAT GENET, vol. 42, no. 10, 10, pp. 885-892. <http://www.ncbi.nlm.nih.gov/pubmed/20852631?dopt=Citation>

APA

Antoniou Antonis, C., Wang, X., Fredericksen Zachary, S., McGuffog, L., Tarrell, R., Sinilnikova, O. M., Healey, S., Morrison, J., Kartsonaki, C., Lesnick, T., Ghoussaini, M., Barrowdale, D., EMBRACE, U., Peock, S., Cook, M., Oliver, C., Frost, D., Eccles, D., Evans, D. G., ... Couch Fergus, J. (2010). 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. NAT GENET, 42(10), 885-892. [10]. http://www.ncbi.nlm.nih.gov/pubmed/20852631?dopt=Citation

Vancouver

Antoniou Antonis C, Wang X, Fredericksen Zachary S, McGuffog L, Tarrell R, Sinilnikova OM et al. 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. NAT GENET. 2010;42(10):885-892. 10.

Bibtex

@article{ef22ab49bddc445aa693594743ce8f41,
title = "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.",
abstract = "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 ? ?",
keywords = "Adult, Humans, Female, Genotype, Genetic Predisposition to Disease, Mutation genetics, BRCA1 Protein genetics, Case-Control Studies, Polymorphism, Single Nucleotide genetics, Receptor, erbB-2 genetics, Breast Neoplasms genetics, Chromosomes, Human, Pair 19 genetics, Receptors, Estrogen genetics, Receptors, Progesterone genetics, Adult, Humans, Female, Genotype, Genetic Predisposition to Disease, Mutation genetics, BRCA1 Protein genetics, Case-Control Studies, Polymorphism, Single Nucleotide genetics, Receptor, erbB-2 genetics, Breast Neoplasms genetics, Chromosomes, Human, Pair 19 genetics, Receptors, Estrogen genetics, Receptors, Progesterone genetics",
author = "{Antoniou Antonis}, C and Xianshu Wang and {Fredericksen Zachary}, S and Lesley McGuffog and Robert Tarrell and Sinilnikova, {Olga M} and Sue Healey and Jonathan Morrison and Christiana Kartsonaki and Timothy Lesnick and Maya Ghoussaini and Daniel Barrowdale and [Unbekannt] EMBRACE and Susan Peock and Margaret Cook and Clare Oliver and Debra Frost and Diana Eccles and Evans, {D Gareth} and Ros Eeles and Louise Izatt and Carol Chu and Fiona Douglas and Joan Paterson and Dominique Stoppa-Lyonnet and Claude Houdayer and Sylvie Mazoyer and Sophie Giraud and Christine Lasset and Audrey Remenieras and Olivier Caron and Agn{\`e}s Hardouin and Pascaline Berthet and Collaborators, {GEMO Study} and {Hogervorst Frans}, {B L} and Rookus, {Matti A} and Agnes Jager and {van den Ouweland}, Ans and Nicoline Hoogerbrugge and {van der Luijt Rob}, B and Hanne Meijers-Heijboer and {G{\'o}mez Garc{\'i}a Encarna}, B and [Unbekannt] HEBON and Peter Devilee and Vreeswijk, {Maaike P G} and Jan Lubinski and Anna Jakubowska and Jacek Gronwald and Tomasz Huzarski and Tomasz Byrski and Bohdan G{\'o}rski and Cezary Cybulski and {Spurdle Amanda}, B and Helene Holland and Goldgar, {David E} and John, {Esther M} and Hopper, {John L} and Melissa Southey and {Buys Saundra}, S and {Daly Mary}, B and Mary-Beth Terry and Schmutzler, {Rita K} and Barbara Wappenschmidt and Christoph Engel and Alfons Meindl and Sabine Preisler-Adams and Norbert Arnold and Dieter Niederacher and Christian Sutter and Domchek, {Susan M} and Nathanson, {Katherine L} and Timothy Rebbeck and {Blum Joanne}, L and Marion Piedmonte and {Rodriguez Gustavo}, C and Katie Wakeley and Boggess, {John F} and Jack Basil and Blank, {Stephanie V} and Eitan Friedman and Bella Kaufman and Yael Laitman and Roni Milgrom and Andrulis, {Irene L} and Gord Glendon and Hilmi Ozcelik and Tomas Kirchhoff and Joseph Vijai and {Gaudet Mia}, M and David Altshuler and Candace Guiducci and [Unbekannt] SWE-BRCA and Niklas Loman and Katja Harbst and Johanna Rantala and Hans Ehrencrona and Anne-Marie Gerdes and Mads Thomassen and Lone Sunde and Paolo Peterlongo and Siranoush Manoukian and Bernardo Bonanni and Alessandra Viel and Paolo Radice and Trinidad Caldes and {de La Hoya}, Miguel and Singer, {Christian F} and Anneliese Fink-Retter and Greene, {Mark H} and {Mai Phuong}, L and Loud, {Jennifer T} and Lucia Guidugli and {Lindor Noralane}, M and Hansen, {Thomas V O} and {Nielsen Finn}, C and Ignacio Blanco and Conxi Lazaro and Judy Garber and Ramus, {Susan J} and Gayther, {Simon A} and Catherine Phelan and Stephen Narod and {Szabo Csilla}, I and SQUAD MOD and Javier Benitez and Ana Osorio and Heli Nevanlinna and Tuomas Heikkinen and Caligo, {Maria A} and {Beattie Mary}, S and Ute Hamann and Godwin, {Andrew K} and Marco Montagna and Cinzia Casella and Neuhausen, {Susan L} and {Karlan Beth}, Y and Nadine Tung and {Toland Amanda}, E and Jeffrey Weitzel and Olofunmilayo Olopade and Jacques Simard and Penny Soucy and {Rubinstein Wendy}, S and Adalgeir Arason and Gad Rennert and Martin, {Nicholas G} and {Montgomery Grant}, W and Jenny Chang-Claude and Dieter Flesch-Janys and Dieter Flesch-Janys and [Unbekannt] GENICA and Gianluca Severi and Laura Baglietto and Angela Cox and Cross, {Simon S} and Penelope Miron and {Gerty Sue}, M and William Tapper and Drakoulis Yannoukakos and George Fountzilas and Fasching, {Peter A} and Beckmann, {Matthias W} and Isabel, {Dos Santos Silva} and Julian Peto and Diether Lambrechts and Robert Paridaens and Thomas R{\"u}diger and Asta F{\"o}rsti and Robert Winqvist and Katri Pylk{\"a}s and Diasio, {Robert B} and Lee, {Adam M} and Jeanette Eckel-Passow and Celine Vachon and Fiona Blows and Kristy Driver and Alison Dunning and Pharoah, {Paul P D} and Kenneth Offit and Pankratz, {V Shane} and Hakon Hakonarson and Georgia Chenevix-Trench and {Easton Douglas}, F and {Couch Fergus}, J",
year = "2010",
language = "Deutsch",
volume = "42",
pages = "885--892",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "10",

}

RIS

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 -