Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Fergus J Couch; Mia M Gaudet; Antonis C Antoniou; Susan J Ramus; Karoline B Kuchenbaecker; Penny Soucy; Jonathan Beesley; Xiaoqing Chen; Xianshu Wang; Tomas Kirchhoff; Lesley McGuffog; Daniel Barrowdale; Andrew Roger Lee; Sue Healey; Olga M Sinilnikova; Irene L Andrulis; Hilmi Ozcelik; Anna Marie Mulligan; Mads Thomassen; Anne-Marie Gerdes; Uffe Birk Jensen; Anne-Bine Skytte; Torben A Kruse; Maria A Caligo; Anna von Wachenfeldt; Gisela Barbany-Bustinza; Niklas Loman; Maria Soller; Hans Ehrencrona; Per W. Karlsson; Katherine L Nathanson; Timothy R Rebbeck; Susan M Domchek; Ania Jakubowska; Jan Lubinski; Katarzyna Jaworska; Katarzyna Durda; Elzbieta Zlowocka; Tomasz Huzarski; Tomasz Byrski; Jacek Gronwald; Cezary Cybulski; Bohdan Górski; Ana Osorio; Mercedes Durán; María Isabel Tejada; Javier Benitez; Ute Hamann; Frans B L Hogervorst; Finn C Nielsen; OCGN

doi:10.1158/1055-9965.EPI-11-0888

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Fergus J Couch, Mia M Gaudet, Antonis C Antoniou, Susan J Ramus, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Xianshu Wang, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Andrew Roger Lee, Sue Healey, Olga M Sinilnikova, Irene L Andrulis, Hilmi Ozcelik, Anna Marie Mulligan, Mads Thomassen, Anne-Marie GerdesUffe Birk Jensen, Anne-Bine Skytte, Torben A Kruse, Maria A Caligo, Anna von Wachenfeldt, Gisela Barbany-Bustinza, Niklas Loman, Maria Soller, Hans Ehrencrona, Per W. Karlsson, Katherine L Nathanson, Timothy R Rebbeck, Susan M Domchek, Ania Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Elzbieta Zlowocka, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Cezary Cybulski, Bohdan Górski, Ana Osorio, Mercedes Durán, María Isabel Tejada, Javier Benitez, Ute Hamann, Frans B L Hogervorst, Finn C Nielsen, OCGN

39 Citationer (Scopus)

Abstract

Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10 ^-4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers.Wealso found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10 ^-4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10^-3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers.

Originalsprog	Engelsk
Tidsskrift	Cancer Epidemiology, Biomarkers & Prevention
Vol/bind	21
Udgave nummer	4
Sider (fra-til)	645-57
Antal sider	13
ISSN	1055-9965
DOI	https://doi.org/10.1158/1055-9965.EPI-11-0888
Status	Udgivet - apr. 2012

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10.1158/1055-9965.EPI-11-0888

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Couch, F. J., Gaudet, M. M., Antoniou, A. C., Ramus, S. J., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., Wang, X., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A. R., Healey, S., Sinilnikova, O. M., Andrulis, I. L., Ozcelik, H., Mulligan, A. M., Thomassen, M., ... OCGN (2012). Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers & Prevention, 21(4), 645-57. https://doi.org/10.1158/1055-9965.EPI-11-0888

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. / Couch, Fergus J; Gaudet, Mia M; Antoniou, Antonis C et al.

I: Cancer Epidemiology, Biomarkers & Prevention, Bind 21, Nr. 4, 04.2012, s. 645-57.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Couch, FJ, Gaudet, MM, Antoniou, AC, Ramus, SJ, Kuchenbaecker, KB, Soucy, P, Beesley, J, Chen, X, Wang, X, Kirchhoff, T, McGuffog, L, Barrowdale, D, Lee, AR, Healey, S, Sinilnikova, OM, Andrulis, IL, Ozcelik, H, Mulligan, AM, Thomassen, M, Gerdes, A-M, Jensen, UB, Skytte, A-B, Kruse, TA, Caligo, MA, von Wachenfeldt, A, Barbany-Bustinza, G, Loman, N, Soller, M, Ehrencrona, H, Karlsson, PW, Nathanson, KL, Rebbeck, TR, Domchek, SM, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Zlowocka, E, Huzarski, T, Byrski, T, Gronwald, J, Cybulski, C, Górski, B, Osorio, A, Durán, M, Tejada, MI, Benitez, J, Hamann, U, Hogervorst, FBL, Nielsen, FC & OCGN 2012, 'Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers', Cancer Epidemiology, Biomarkers & Prevention, bind 21, nr. 4, s. 645-57. https://doi.org/10.1158/1055-9965.EPI-11-0888

@article{27db6524ac2a46fdbab1c83149f968f9,

title = "Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers",

abstract = "Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10 -4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers.Wealso found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10 -4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10-3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers.",

author = "Couch, {Fergus J} and Gaudet, {Mia M} and Antoniou, {Antonis C} and Ramus, {Susan J} and Kuchenbaecker, {Karoline B} and Penny Soucy and Jonathan Beesley and Xiaoqing Chen and Xianshu Wang and Tomas Kirchhoff and Lesley McGuffog and Daniel Barrowdale and Lee, {Andrew Roger} and Sue Healey and Sinilnikova, {Olga M} and Andrulis, {Irene L} and Hilmi Ozcelik and Mulligan, {Anna Marie} and Mads Thomassen and Anne-Marie Gerdes and Jensen, {Uffe Birk} and Anne-Bine Skytte and Kruse, {Torben A} and Caligo, {Maria A} and {von Wachenfeldt}, Anna and Gisela Barbany-Bustinza and Niklas Loman and Maria Soller and Hans Ehrencrona and Karlsson, {Per W.} and Nathanson, {Katherine L} and Rebbeck, {Timothy R} and Domchek, {Susan M} and Ania Jakubowska and Jan Lubinski and Katarzyna Jaworska and Katarzyna Durda and Elzbieta Zlowocka and Tomasz Huzarski and Tomasz Byrski and Jacek Gronwald and Cezary Cybulski and Bohdan G{\'o}rski and Ana Osorio and Mercedes Dur{\'a}n and Tejada, {Mar{\'i}a Isabel} and Javier Benitez and Ute Hamann and Hogervorst, {Frans B L} and Nielsen, {Finn C} and Nielsen, {Finn Cilius}",

note = "{\textcopyright}2012 AACR.",

year = "2012",

month = apr,

doi = "10.1158/1055-9965.EPI-11-0888",

language = "English",

volume = "21",

pages = "645--57",

journal = "Cancer Epidemiology, Biomarkers & Prevention",

issn = "1055-9965",

publisher = "American Association for Cancer Research (A A C R)",

number = "4",

}

TY - JOUR

T1 - Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

AU - Couch, Fergus J

AU - Gaudet, Mia M

AU - Antoniou, Antonis C

AU - Ramus, Susan J

AU - Kuchenbaecker, Karoline B

AU - Soucy, Penny

AU - Beesley, Jonathan

AU - Chen, Xiaoqing

AU - Wang, Xianshu

AU - Kirchhoff, Tomas

AU - McGuffog, Lesley

AU - Barrowdale, Daniel

AU - Lee, Andrew Roger

AU - Healey, Sue

AU - Sinilnikova, Olga M

AU - Andrulis, Irene L

AU - Ozcelik, Hilmi

AU - Mulligan, Anna Marie

AU - Thomassen, Mads

AU - Gerdes, Anne-Marie

AU - Jensen, Uffe Birk

AU - Skytte, Anne-Bine

AU - Kruse, Torben A

AU - Caligo, Maria A

AU - von Wachenfeldt, Anna

AU - Barbany-Bustinza, Gisela

AU - Loman, Niklas

AU - Soller, Maria

AU - Ehrencrona, Hans

AU - Karlsson, Per W.

AU - Nathanson, Katherine L

AU - Rebbeck, Timothy R

AU - Domchek, Susan M

AU - Jakubowska, Ania

AU - Lubinski, Jan

AU - Jaworska, Katarzyna

AU - Durda, Katarzyna

AU - Zlowocka, Elzbieta

AU - Huzarski, Tomasz

AU - Byrski, Tomasz

AU - Gronwald, Jacek

AU - Cybulski, Cezary

AU - Górski, Bohdan

AU - Osorio, Ana

AU - Durán, Mercedes

AU - Tejada, María Isabel

AU - Benitez, Javier

AU - Hamann, Ute

AU - Hogervorst, Frans B L

AU - Nielsen, Finn C

AU - OCGN

PY - 2012/4

Y1 - 2012/4

N2 - Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10 -4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers.Wealso found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10 -4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10-3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers.

AB - Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10 -4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers.Wealso found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10 -4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10-3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers.

U2 - 10.1158/1055-9965.EPI-11-0888

DO - 10.1158/1055-9965.EPI-11-0888

M3 - Journal article

C2 - 22351618

SN - 1055-9965

VL - 21

SP - 645

EP - 657

JO - Cancer Epidemiology, Biomarkers & Prevention

JF - Cancer Epidemiology, Biomarkers & Prevention

IS - 4

ER -

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

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