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 Online-Ressource | |
| Verfasst von: | Muranen, Taru A. [VerfasserIn]  |
| Burwinkel, Barbara [VerfasserIn] | |
| Marmé, Frederik [VerfasserIn] | |
| Brenner, Hermann [VerfasserIn] | |
| Arndt, Volker [VerfasserIn] | |
| Chang-Claude, Jenny [VerfasserIn] | |
| Titel: | Genetic modifiers of CHEK2*1100delC-associated breast cancer risk |
| Verf.angabe: | Taru A. Muranen, Dario Greco, Carl Blomqvist, Kristiina Aittomäki, Sofia Khan, Frans Hogervorst, Senno Verhoef, Paul D. P. Pharoah, Alison M. Dunning, Mitul Shah, Robert Luben, Stig E. Bojesen, Børge G. Nordestgaard, Minouk Schoemaker, Anthony Swerdlow, Montserrat García-Closas, Jonine Figueroa, Thilo Dörk, Natalia V. Bogdanova, Per Hall, Jingmei Li, Elza Khusnutdinova, Marina Bermisheva, Vessela Kristensen, Anne-Lise Borresen-Dale, Nbcs Investigators, Julian Peto, Isabel dos Santos Silva, Fergus J. Couch, Janet E. Olson, Peter Hillemans, Tjoung-Won Park-Simon, Hiltrud Brauch, Ute Hamann, Barbara Burwinkel, Frederik Marme, Alfons Meindl, Rita K. Schmutzler, Angela Cox, Simon S. Cross, Elinor J. Sawyer, Ian Tomlinson, Diether Lambrechts, Matthieu Moisse, Annika Lindblom, Sara Margolin, Antoinette Hollestelle, John W. M. Martens, Peter A. Fasching, Matthias W. Beckmann, Irene L. Andrulis, Julia A. Knight, kConFab/AOCS Investigators, Hoda Anton-Culver, Argyrios Ziogas, Graham G. Giles, Roger L. Milne, Hermann Brenner, Volker Arndt, Arto Mannermaa, Veli-Matti Kosma, Jenny Chang-Claude, Anja Rudolph, Peter Devilee, Caroline Seynaeve, John L. Hopper, Melissa C. Southey, Esther M. John, Alice S. Whittemore, Manjeet K. Bolla, Qin Wang, Kyriaki Michailidou, Joe Dennis, Douglas F. Easton, Marjanka K. Schmidt & Heli Nevanlinna, on behalf of the Breast Cancer Association Consortium |
| Jahr: | 2017 |
| Umfang: | 5 S. |
| Teil: | volume:19 |
| year:2017 | |
| number:5 | |
| pages:599-603 | |
| extent:5 | |
| Fussnoten: | Published online on 6 October 2016 ; Gesehen am 31.05.2017 |
| Titel Quelle: | Enthalten in: Genetics in medicine |
| Ort Quelle: | London, UK : Springer Nature, 1998 |
| Jahr Quelle: | 2017 |
| Band/Heft Quelle: | 19(2017), 5, Seite 599-603 |
| ISSN Quelle: | 1530-0366 |
| Abstract: | CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction.The PRS conferred odds ratios (OR) of 1.59 (95% CI: 1.21-2.09) per standard deviation for BC for CHEK2*1100delC carriers and 1.58 (1.55-1.62) for noncarriers. No evidence of deviation from the multiplicative model was found. The OR for the highest quintile of the PRS was 2.03 (0.86-4.78) for CHEK2*1100delC carriers, placing them in the high risk category according to UK NICE guidelines. The OR for the lowest quintile was 0.52 (0.16-1.74), indicating a lifetime risk close to the population average. Our results confirm the multiplicative nature of risk effects conferred by CHEK2*1100delC and the common susceptibility variants. Furthermore, the PRS could identify carriers at a high lifetime risk for clinical actions. Genet Med advance online publication 06 October 2016 |
| DOI: | doi:10.1038/gim.2016.147 |
| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt. Volltext ; Verlag: http://dx.doi.org/10.1038/gim.2016.147 |
| Volltext: http://www.nature.com/gim/journal/v19/n5/full/gim2016147a.html | |
| DOI: https://doi.org/10.1038/gim.2016.147 | |
| Datenträger: | Online-Ressource |
| Sprache: | eng |
| Sach-SW: | breast cancer |
| Breast Cancer Association Consortium | |
| CHEK2*1100delC | |
| common variants | |
| polygenic risk score | |
| K10plus-PPN: | 155919510X |
| Verknüpfungen: | → Zeitschrift |
