Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers

Marjanka K. Schmidt; Frans Hogervorst; Richard Van Hien; Sten Cornelissen; Annegien Broeks; Muriel A. Adank; Hanne Meijers; Quinten Waisfisz; Antoinette Hollestelle; Mieke Schutte; Ans Van Den Ouweland; Maartje Hooning; Irene L. Andrulis; Hoda Anton-Culver; Natalia N. Antonenkova; Antonis C. Antoniou; Volker Arndt; Marina Bermisheva; Natalia V. Bogdanova; Manjeet K. Bolla; Hiltrud Brauch; Hermann Brenner; Thomas Brüning; Barbara Burwinkel; Jenny Chang-Claude; Georgia Chenevix-Trench; Fergus J. Couch; Angela Cox; Simon S. Cross; Kamila Czene; Alison M. Dunning; Peter A. Fasching; Jonine Figueroa; Olivia Fletcher; Henrik Flyger; Eva Galle; Montserrat García-Closas; Graham G. Giles; Lothar Haeberle; Per Hall; Peter Hillemanns; John L. Hopper; Anna Jakubowska; Esther M. John; Michael Jones; Elza Khusnutdinova; Julia A. Knight; Veli Matti Kosma; Vessela Kristensen; Andrew Lee; Annika Lindblom; Jan Lubinski; Arto Mannermaa; Sara Margolin; Alfons Meindl; Roger L. Milne; Taru A. Muranen; Polly A. Newcomb; Kenneth Offit; Tjoung Won Park-Simon; Julian Peto; Paul D.P. Pharoah; Mark Robson; Anja Rudolph; Elinor J. Sawyer; Rita K. Schmutzler; Caroline Seynaeve; Julie Soens; Melissa C. Southey; Amanda B. Spurdle; Harald Surowy; Anthony Swerdlow; Rob A.E.M. Tollenaar; Ian Tomlinson; Amy Trentham-Dietz; Celine Vachon; Qin Wang; Alice S. Whittemore; Argyrios Ziogas; Lizet Van Der Kolk; Heli Nevanlinna; Thilo Dörk; Stig Bojesen; Douglas F. Easton

doi:10.1200/JCO.2016.66.5844

Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers

Marjanka K. Schmidt, Frans Hogervorst, Richard Van Hien, Sten Cornelissen, Annegien Broeks, Muriel A. Adank, Hanne Meijers, Quinten Waisfisz, Antoinette Hollestelle, Mieke Schutte, Ans Van Den Ouweland, Maartje Hooning, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Antonis C. Antoniou, Volker Arndt, Marina Bermisheva, Natalia V. Bogdanova, Manjeet K. BollaHiltrud Brauch, Hermann Brenner, Thomas Brüning, Barbara Burwinkel, Jenny Chang-Claude, Georgia Chenevix-Trench, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Alison M. Dunning, Peter A. Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Eva Galle, Montserrat García-Closas, Graham G. Giles, Lothar Haeberle, Per Hall, Peter Hillemanns, John L. Hopper, Anna Jakubowska, Esther M. John, Michael Jones, Elza Khusnutdinova, Julia A. Knight, Veli Matti Kosma, Vessela Kristensen, Andrew Lee, Annika Lindblom, Jan Lubinski, Arto Mannermaa, Sara Margolin, Alfons Meindl, Roger L. Milne, Taru A. Muranen, Polly A. Newcomb, Kenneth Offit, Tjoung Won Park-Simon, Julian Peto, Paul D.P. Pharoah, Mark Robson, Anja Rudolph, Elinor J. Sawyer, Rita K. Schmutzler, Caroline Seynaeve, Julie Soens, Melissa C. Southey, Amanda B. Spurdle, Harald Surowy, Anthony Swerdlow, Rob A.E.M. Tollenaar, Ian Tomlinson, Amy Trentham-Dietz, Celine Vachon, Qin Wang, Alice S. Whittemore, Argyrios Ziogas, Lizet Van Der Kolk, Heli Nevanlinna, Thilo Dörk, Stig Bojesen, Douglas F. Easton

Research output: Contribution to journal › Article › peer-review

82 Scopus citations

Abstract

Purpose CHEK2∗1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtypeand age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2∗1100delC. Patients and Methods CHEK2∗1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2∗1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population-And hospital-based studies. Results Proportions of heterozygous CHEK2∗1100delC carriers in controls, in patients with breast cancer from population-And hospital-based studies, and in patients with breast cancer from familial-And clinical genetics center-based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 3 10^-20). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 3 10^-21]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 3 10^-4). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2∗1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. Conclusion These CHEK2∗1100delC breast cancer risk estimates provide a basis for incorporating CHEK2∗1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up.

Original language	English (US)
Pages (from-to)	2750-2760
Number of pages	11
Journal	Journal of Clinical Oncology
Volume	34
Issue number	23
DOIs	https://doi.org/10.1200/JCO.2016.66.5844
State	Published - Aug 10 2016

ASJC Scopus subject areas

Oncology
Cancer Research

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10.1200/JCO.2016.66.5844

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Schmidt, M. K., Hogervorst, F., Van Hien, R., Cornelissen, S., Broeks, A., Adank, M. A., Meijers, H., Waisfisz, Q., Hollestelle, A., Schutte, M., Van Den Ouweland, A., Hooning, M., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Antoniou, A. C., Arndt, V., Bermisheva, M., Bogdanova, N. V., ... Easton, D. F. (2016). Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers. Journal of Clinical Oncology, 34(23), 2750-2760. https://doi.org/10.1200/JCO.2016.66.5844

Schmidt, MK, Hogervorst, F, Van Hien, R, Cornelissen, S, Broeks, A, Adank, MA, Meijers, H, Waisfisz, Q, Hollestelle, A, Schutte, M, Van Den Ouweland, A, Hooning, M, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Antoniou, AC, Arndt, V, Bermisheva, M, Bogdanova, NV, Bolla, MK, Brauch, H, Brenner, H, Brüning, T, Burwinkel, B, Chang-Claude, J, Chenevix-Trench, G, Couch, FJ, Cox, A, Cross, SS, Czene, K, Dunning, AM, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Galle, E, García-Closas, M, Giles, GG, Haeberle, L, Hall, P, Hillemanns, P, Hopper, JL, Jakubowska, A, John, EM, Jones, M, Khusnutdinova, E, Knight, JA, Kosma, VM, Kristensen, V, Lee, A, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Meindl, A, Milne, RL, Muranen, TA, Newcomb, PA, Offit, K, Park-Simon, TW, Peto, J, Pharoah, PDP, Robson, M, Rudolph, A, Sawyer, EJ, Schmutzler, RK, Seynaeve, C, Soens, J, Southey, MC, Spurdle, AB, Surowy, H, Swerdlow, A, Tollenaar, RAEM, Tomlinson, I, Trentham-Dietz, A, Vachon, C, Wang, Q, Whittemore, AS, Ziogas, A, Van Der Kolk, L, Nevanlinna, H, Dörk, T, Bojesen, S & Easton, DF 2016, 'Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers', Journal of Clinical Oncology, vol. 34, no. 23, pp. 2750-2760. https://doi.org/10.1200/JCO.2016.66.5844

@article{e08adc04af9f444fbe5baa4e118d451c,

title = "Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers",

abstract = "Purpose CHEK2∗1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtypeand age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2∗1100delC. Patients and Methods CHEK2∗1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2∗1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population-And hospital-based studies. Results Proportions of heterozygous CHEK2∗1100delC carriers in controls, in patients with breast cancer from population-And hospital-based studies, and in patients with breast cancer from familial-And clinical genetics center-based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 3 10-20). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 3 10-21]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 3 10-4). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2∗1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. Conclusion These CHEK2∗1100delC breast cancer risk estimates provide a basis for incorporating CHEK2∗1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up.",

author = "Schmidt, {Marjanka K.} and Frans Hogervorst and {Van Hien}, Richard and Sten Cornelissen and Annegien Broeks and Adank, {Muriel A.} and Hanne Meijers and Quinten Waisfisz and Antoinette Hollestelle and Mieke Schutte and {Van Den Ouweland}, Ans and Maartje Hooning and Andrulis, {Irene L.} and Hoda Anton-Culver and Antonenkova, {Natalia N.} and Antoniou, {Antonis C.} and Volker Arndt and Marina Bermisheva and Bogdanova, {Natalia V.} and Bolla, {Manjeet K.} and Hiltrud Brauch and Hermann Brenner and Thomas Br{\"u}ning and Barbara Burwinkel and Jenny Chang-Claude and Georgia Chenevix-Trench and Couch, {Fergus J.} and Angela Cox and Cross, {Simon S.} and Kamila Czene and Dunning, {Alison M.} and Fasching, {Peter A.} and Jonine Figueroa and Olivia Fletcher and Henrik Flyger and Eva Galle and Montserrat Garc{\'i}a-Closas and Giles, {Graham G.} and Lothar Haeberle and Per Hall and Peter Hillemanns and Hopper, {John L.} and Anna Jakubowska and John, {Esther M.} and Michael Jones and Elza Khusnutdinova and Knight, {Julia A.} and Kosma, {Veli Matti} and Vessela Kristensen and Andrew Lee and Annika Lindblom and Jan Lubinski and Arto Mannermaa and Sara Margolin and Alfons Meindl and Milne, {Roger L.} and Muranen, {Taru A.} and Newcomb, {Polly A.} and Kenneth Offit and Park-Simon, {Tjoung Won} and Julian Peto and Pharoah, {Paul D.P.} and Mark Robson and Anja Rudolph and Sawyer, {Elinor J.} and Schmutzler, {Rita K.} and Caroline Seynaeve and Julie Soens and Southey, {Melissa C.} and Spurdle, {Amanda B.} and Harald Surowy and Anthony Swerdlow and Tollenaar, {Rob A.E.M.} and Ian Tomlinson and Amy Trentham-Dietz and Celine Vachon and Qin Wang and Whittemore, {Alice S.} and Argyrios Ziogas and {Van Der Kolk}, Lizet and Heli Nevanlinna and Thilo D{\"o}rk and Stig Bojesen and Easton, {Douglas F.}",

note = "Publisher Copyright: {\textcopyright} 2016 by American Society of Clinical Oncology.",

year = "2016",

month = aug,

day = "10",

doi = "10.1200/JCO.2016.66.5844",

language = "English (US)",

volume = "34",

pages = "2750--2760",

journal = "Journal of Clinical Oncology",

issn = "0732-183X",

publisher = "American Society of Clinical Oncology",

number = "23",

}

TY - JOUR

T1 - Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers

AU - Schmidt, Marjanka K.

AU - Hogervorst, Frans

AU - Van Hien, Richard

AU - Cornelissen, Sten

AU - Broeks, Annegien

AU - Adank, Muriel A.

AU - Meijers, Hanne

AU - Waisfisz, Quinten

AU - Hollestelle, Antoinette

AU - Schutte, Mieke

AU - Van Den Ouweland, Ans

AU - Hooning, Maartje

AU - Andrulis, Irene L.

AU - Anton-Culver, Hoda

AU - Antonenkova, Natalia N.

AU - Antoniou, Antonis C.

AU - Arndt, Volker

AU - Bermisheva, Marina

AU - Bogdanova, Natalia V.

AU - Bolla, Manjeet K.

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Brüning, Thomas

AU - Burwinkel, Barbara

AU - Chang-Claude, Jenny

AU - Chenevix-Trench, Georgia

AU - Couch, Fergus J.

AU - Cox, Angela

AU - Cross, Simon S.

AU - Czene, Kamila

AU - Dunning, Alison M.

AU - Fasching, Peter A.

AU - Figueroa, Jonine

AU - Fletcher, Olivia

AU - Flyger, Henrik

AU - Galle, Eva

AU - García-Closas, Montserrat

AU - Giles, Graham G.

AU - Haeberle, Lothar

AU - Hall, Per

AU - Hillemanns, Peter

AU - Hopper, John L.

AU - Jakubowska, Anna

AU - John, Esther M.

AU - Jones, Michael

AU - Khusnutdinova, Elza

AU - Knight, Julia A.

AU - Kosma, Veli Matti

AU - Kristensen, Vessela

AU - Lee, Andrew

AU - Lindblom, Annika

AU - Lubinski, Jan

AU - Mannermaa, Arto

AU - Margolin, Sara

AU - Meindl, Alfons

AU - Milne, Roger L.

AU - Muranen, Taru A.

AU - Newcomb, Polly A.

AU - Offit, Kenneth

AU - Park-Simon, Tjoung Won

AU - Peto, Julian

AU - Pharoah, Paul D.P.

AU - Robson, Mark

AU - Rudolph, Anja

AU - Sawyer, Elinor J.

AU - Schmutzler, Rita K.

AU - Seynaeve, Caroline

AU - Soens, Julie

AU - Southey, Melissa C.

AU - Spurdle, Amanda B.

AU - Surowy, Harald

AU - Swerdlow, Anthony

AU - Tollenaar, Rob A.E.M.

AU - Tomlinson, Ian

AU - Trentham-Dietz, Amy

AU - Vachon, Celine

AU - Wang, Qin

AU - Whittemore, Alice S.

AU - Ziogas, Argyrios

AU - Van Der Kolk, Lizet

AU - Nevanlinna, Heli

AU - Dörk, Thilo

AU - Bojesen, Stig

AU - Easton, Douglas F.

PY - 2016/8/10

Y1 - 2016/8/10

N2 - Purpose CHEK2∗1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtypeand age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2∗1100delC. Patients and Methods CHEK2∗1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2∗1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population-And hospital-based studies. Results Proportions of heterozygous CHEK2∗1100delC carriers in controls, in patients with breast cancer from population-And hospital-based studies, and in patients with breast cancer from familial-And clinical genetics center-based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 3 10-20). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 3 10-21]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 3 10-4). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2∗1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. Conclusion These CHEK2∗1100delC breast cancer risk estimates provide a basis for incorporating CHEK2∗1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up.

AB - Purpose CHEK2∗1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtypeand age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2∗1100delC. Patients and Methods CHEK2∗1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2∗1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population-And hospital-based studies. Results Proportions of heterozygous CHEK2∗1100delC carriers in controls, in patients with breast cancer from population-And hospital-based studies, and in patients with breast cancer from familial-And clinical genetics center-based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 3 10-20). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 3 10-21]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 3 10-4). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2∗1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. Conclusion These CHEK2∗1100delC breast cancer risk estimates provide a basis for incorporating CHEK2∗1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up.

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UR - http://www.scopus.com/inward/citedby.url?scp=84981713294&partnerID=8YFLogxK

U2 - 10.1200/JCO.2016.66.5844

DO - 10.1200/JCO.2016.66.5844

M3 - Article

C2 - 27269948

AN - SCOPUS:84981713294

SN - 0732-183X

VL - 34

SP - 2750

EP - 2760

JO - Journal of Clinical Oncology

JF - Journal of Clinical Oncology

IS - 23

ER -

Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers

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