Publication:
Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers

dc.contributor.author Schmidt, Marjanka K
dc.contributor.author Hogervorst, Frans
dc.contributor.author van, Hien Richard
dc.contributor.author Cornelissen, Sten
dc.contributor.author Broeks, Annegien
dc.contributor.author Adank, Muriel
dc.contributor.author Meijers, Hanne
dc.contributor.author Waisfisz, Quinten
dc.contributor.author Hollestelle, Antoinette
dc.contributor.author Schutte, Mieke
dc.contributor.author van, den Ouweland Ans
dc.contributor.author Hooning, Maartje
dc.contributor.author Andrulis, Irene L
dc.contributor.author Anton-Culver, Hoda
dc.contributor.author Antonenkova, Natalia N
dc.contributor.author Antoniou, Antonis
dc.contributor.author Arndt, Volker
dc.contributor.author Bermisheva, Marina
dc.contributor.author Bogdanova, Natalia V
dc.contributor.author Bolla, Manjeet K
dc.contributor.author Brauch, Hiltrud
dc.contributor.author Brenner, Hermann
dc.contributor.author Br├╝ning, Thomas
dc.contributor.author Burwinkel, Barbara
dc.contributor.author Chang-Claude, Jenny
dc.contributor.author Chenevix-Trench, Georgia
dc.contributor.author Couch, Fergus J
dc.contributor.author Cox, Angela
dc.contributor.author Cross, Simon S
dc.contributor.author Czene, Kamila
dc.contributor.author Dunning, Alison
dc.contributor.author Fasching, Peter A
dc.contributor.author Figueroa, Jonine
dc.contributor.author Fletcher, Olivia
dc.contributor.author Flyger, Henrik
dc.contributor.author Galle, Eva
dc.contributor.author García-Closas, Montserrat
dc.contributor.author Giles, Graham G
dc.contributor.author Haeberle, Lothar
dc.contributor.author Hall, Per
dc.contributor.author Hillemanns, Peter
dc.contributor.author Hopper, John L
dc.contributor.author Jakubowska, Anna
dc.contributor.author John, Esther M
dc.contributor.author Jones, Michael
dc.contributor.author Khusnutdinova, Elza
dc.contributor.author Knight, Julia A
dc.contributor.author Kosma, Veli-Matti
dc.contributor.author Kristensen, Vessela
dc.contributor.author Lee, Andrew
dc.contributor.author Lindblom, Annika
dc.contributor.author Lubinski, Jan
dc.contributor.author Mannermaa, Arto
dc.contributor.author Margolin, Sara
dc.contributor.author Meindl, Alfons
dc.contributor.author Milne, Roger L
dc.contributor.author Muranen, Taru A
dc.contributor.author NBCS, Investigators
dc.contributor.author Newcomb, Polly A
dc.contributor.author Offitt, Kenneth
dc.contributor.author Park-Simon, Tjoung-Won
dc.contributor.author Peto, Julian
dc.contributor.author Pharoah, Paul
dc.contributor.author Robson, Mark
dc.contributor.author Rudolph, Anja
dc.contributor.author Sawyer, Elinor J
dc.contributor.author Schmutzler, Rita K
dc.contributor.author Seynaeve, Caroline
dc.contributor.author Soens, Julie
dc.contributor.author Southey, Melissa C
dc.contributor.author Spurdle, Amanda
dc.contributor.author Surowy, Harald
dc.contributor.author Swerdlow, Anthony
dc.contributor.author Tollenaar, Rob AEM
dc.contributor.author Tomlinson, Ian
dc.contributor.author Trentham-Dietz, Amy
dc.contributor.author Vachon, Celine
dc.contributor.author Wang, Qin
dc.contributor.author Whittemore, Alice S
dc.contributor.author Ziogas, Argyrios
dc.contributor.author van, der Kolk Lizet
dc.contributor.author Nevanlinna, Heli
dc.contributor.author D├╢rk, Thilo
dc.contributor.author Bojesen, Stig
dc.contributor.author Easton, Douglas
dc.contributor.other Law Enforcement
dc.contributor.other Law and Development
dc.contributor.other Personal Rights & Property Rights
dc.contributor.other Government & Law
dc.contributor.other Business & Law
dc.date.accessioned 2019-04-26T08:57:00Z
dc.date.available 2019-04-26T08:57:00Z
dc.date.issued 2016
dc.description CHEK2*1100delC is a well-established breast cancer risk variant, most prevalent in European populations. However, there are limited data on risk of breast cancer by age and tumor subtype, limiting its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates using data from the Breast Cancer Association Consortium, including 44,777 breast cancer patients and 42,997 controls from 33 studies genotyped for CHEK2*1100delC. CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (OR) for CHEK2*1100delC carriers versus non-carriers were estimated using logistic regression; adjusting for study (categorical) and age. Main analyses included invasive breast cancer patients from population- and hospital-based studies. The proportions of heterozygous CHEK2*1100delC carriers in controls, in breast cancer patients from population- and hospital-based studies, and in breast cancer patients from familial and clinical genetics center-based studies, were 0.5%, 1.3%, and 3.0% respectively. The estimated OR f or invasive breast cancer was 2.26 (95%CI:1.90-2.69; p=2.3x10^-20). The OR was higher f or estrogen receptor (ER)-positive disease 2.55 (95%CI:2.10-3.10; p=4.9x10^-21) than for ER-negative disease 1.32 (95%CI: 0.93-1.88; p=0.12) (p interaction=9.9x10^-4). The OR significantly declined with attained age for breast cancer overall (p=0.001) and for ER-positive tumors (p=0.001). Estimated cumulative risks for CHEK2*1100delC carriers for the development of ER-positive and ER-negative tumors by age 80 were respectively 20% and 3%, compared with 9% and 2% in the UK general population. 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.
dc.identifier.uri https://demo7.dspace.org/handle/123456789/442
dc.language en
dc.publisher American Society of Clinical Oncology
dc.title Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers
dspace.entity.type Publication
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