Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers
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Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers. / Schmidt, Marjanka K; Hogervorst, Frans; van Hien, Richard R; Cornelissen, Sten; Broeks, Annegien; Adank, Muriel A; Meijers-Heijboer, Hanne; Waisfisz, Quinten; Hollestelle, Antoinette; Schutte, Mieke; van den Ouweland, Ans; Hooning, Maartje; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia; Antoniou, Antonis C; Arndt, Volker; Bermisheva, Marina; Bogdanova, Natalia V; Bolla, Manjeet K; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Dunning, Alison M; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham; Haeberle, Lothar; Hall, Per; Hillemanns, Peter; Hopper, John L; Jakubowska, Anna; John, Esther M; Jones, Michael; Khusnutdinova, Elza; Knight, Julia A; Kosma, Veli-Matti; Kristensen, Vessela; Lee, Andrew; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Meindl, Alfons; Milne, Roger L; Muranen, Taru A; Newcomb, Polly A; Offit, Kenneth; Park-Simon, Tjoung-Won; Peto, Julian; Pharoah, Paul P D; Robson, Mark; Rudolph, Anja; Sawyer, Elinor J; Schmutzler, Rita K; Seynaeve, Caroline; Soens, Julie; Southey, Melissa C; Spurdle, Amanda B; Surowy, Harald M; Swerdlow, Anthony; Tollenaar, Rob A E M; Tomlinson, Ian; Trentham-Dietz, Amy; Vachon, Celine; Wang, Qin; Whittemore, Alice S; Ziogas, Argyrios; van der Kolk, Lizet; Nevanlinna, Heli; Doerk, Thilo; Bojesen, Stig; Easton, Douglas F.
In: Journal of Clinical Oncology, Vol. 34, No. 23, 10.08.2016, p. 2750-60.Research output: Contribution to journal › Journal article › Research › peer-review
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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
N1 - © 2016 by American Society of Clinical Oncology.
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 subtype- and 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 × 10(-20)). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10(-21)]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 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 subtype- and 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 × 10(-20)). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10(-21)]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 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
VL - 34
SP - 2750
EP - 2760
JO - Journal of Clinical Oncology
JF - Journal of Clinical Oncology
SN - 0732-183X
IS - 23
ER -
ID: 176955144