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Region Hovedstaden - en del af Københavns Universitetshospital
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Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  • 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
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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.

OriginalsprogEngelsk
TidsskriftJournal of clinical oncology : official journal of the American Society of Clinical Oncology
Vol/bind34
Udgave nummer23
Sider (fra-til)2750-60
Antal sider11
ISSN0732-183X
DOI
StatusUdgivet - 10 aug. 2016

ID: 49507351