Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

Marjanka K Schmidt; Frans Hogervorst; Richard R van Hien; Sten Cornelissen; Annegien Broeks; Muriel A Adank; Hanne Meijers-Heijboer; Quinten Waisfisz; Antoinette Hollestelle; Mieke Schutte; Ans van den Ouweland; Maartje Hooning; Irene L Andrulis; Hoda Anton-Culver; Natalia 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 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 P D Pharoah; Mark Robson; Anja Rudolph; Elinor J Sawyer; Rita K Schmutzler; Caroline Seynaeve; Julie Soens; Melissa C Southey; Amanda B Spurdle; Harald M 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 Doerk; 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 R van Hien, Sten Cornelissen, Annegien Broeks, Muriel A Adank, Hanne Meijers-Heijboer, Quinten Waisfisz, Antoinette Hollestelle, Mieke Schutte, Ans van den Ouweland, Maartje Hooning, Irene L Andrulis, Hoda Anton-Culver, Natalia 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 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 P D Pharoah, Mark Robson, Anja Rudolph, Elinor J Sawyer, Rita K Schmutzler, Caroline Seynaeve, Julie Soens, Melissa C Southey, Amanda B Spurdle, Harald M 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 Doerk, Stig Bojesen, Douglas F Easton

Department of Clinical Medicine

82 Citations (Scopus)

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
Journal	Journal of Clinical Oncology
Volume	34
Issue number	23
Pages (from-to)	2750-60
Number of pages	11
ISSN	0732-183X
DOIs	https://doi.org/10.1200/JCO.2016.66.5844
Publication status	Published - 10 Aug 2016

Keywords

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UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1200/JCO.2016.66.5844

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Schmidt, M. K., Hogervorst, F., van Hien, R. R., Cornelissen, S., Broeks, A., Adank, M. A., Meijers-Heijboer, H., Waisfisz, Q., Hollestelle, A., Schutte, M., van den Ouweland, A., Hooning, M., Andrulis, I. L., Anton-Culver, H., Antonenkova, 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), 2750-60. https://doi.org/10.1200/JCO.2016.66.5844

Schmidt, MK, Hogervorst, F, van Hien, RR, Cornelissen, S, Broeks, A, Adank, MA, Meijers-Heijboer, H, Waisfisz, Q, Hollestelle, A, Schutte, M, van den Ouweland, A, Hooning, M, Andrulis, IL, Anton-Culver, H, Antonenkova, N, 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, G, Haeberle, L, Hall, P, Hillemanns, P, Hopper, JL, Jakubowska, A, John, EM, Jones, M, Khusnutdinova, E, Knight, JA, Kosma, V-M, Kristensen, V, Lee, A, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Meindl, A, Milne, RL, Muranen, TA, Newcomb, PA, Offit, K, Park-Simon, T-W, Peto, J, Pharoah, PPD, Robson, M, Rudolph, A, Sawyer, EJ, Schmutzler, RK, Seynaeve, C, Soens, J, Southey, MC, Spurdle, AB, Surowy, HM, Swerdlow, A, Tollenaar, RAEM, Tomlinson, I, Trentham-Dietz, A, Vachon, C, Wang, Q, Whittemore, AS, Ziogas, A, van der Kolk, L, Nevanlinna, H, Doerk, 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. 2750-60. https://doi.org/10.1200/JCO.2016.66.5844

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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.",

keywords = "Journal Article",

author = "Schmidt, {Marjanka K} and Frans Hogervorst and {van Hien}, {Richard R} and Sten Cornelissen and Annegien Broeks and Adank, {Muriel A} and Hanne Meijers-Heijboer 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 Natalia Antonenkova 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 Graham Giles 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 Veli-Matti Kosma 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 Tjoung-Won Park-Simon and Julian Peto and Pharoah, {Paul P D} 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 Surowy, {Harald M} 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 Doerk and Stig Bojesen and Easton, {Douglas F}",

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

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month = aug,

day = "10",

doi = "10.1200/JCO.2016.66.5844",

language = "English",

volume = "34",

pages = "2750--60",

journal = "Journal of Clinical Oncology",

issn = "0732-183X",

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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 R

AU - Cornelissen, Sten

AU - Broeks, Annegien

AU - Adank, Muriel A

AU - Meijers-Heijboer, 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

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

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 P D

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 M

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 - Doerk, 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.

KW - Journal Article

U2 - 10.1200/JCO.2016.66.5844

DO - 10.1200/JCO.2016.66.5844

M3 - Journal article

C2 - 27269948

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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