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Page 1
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E. Weber-Lassalle N, et al. Among authors: blumcke b. Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9. Breast Cancer Res. 2018. PMID: 29368626 Free PMC article.
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
Neidhardt G, Becker A, Hauke J, Horváth J, Bogdanova Markov N, Heilmann-Heimbach S, Hellebrand H, Thiele H, Altmüller J, Nürnberg P, Meindl A, Rhiem K, Blümcke B, Wappenschmidt B, Schmutzler RK, Hahnen E. Neidhardt G, et al. Among authors: blumcke b. Eur J Cancer Prev. 2017 Mar;26(2):165-169. doi: 10.1097/CEJ.0000000000000240. Eur J Cancer Prev. 2017. PMID: 27622768
Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
Engel C, Rhiem K, Hahnen E, Loibl S, Weber KE, Seiler S, Zachariae S, Hauke J, Wappenschmidt B, Waha A, Blümcke B, Kiechle M, Meindl A, Niederacher D, Bartram CR, Speiser D, Schlegelberger B, Arnold N, Wieacker P, Leinert E, Gehrig A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Engel C, et al. Among authors: blumcke b. BMC Cancer. 2018 Mar 7;18(1):265. doi: 10.1186/s12885-018-4029-y. BMC Cancer. 2018. PMID: 29514593 Free PMC article.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, K… See abstract for full author list ➔ Parsons MT, et al. Among authors: blumcke b. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.
Lepkes L, Kayali M, Blümcke B, Weber J, Suszynska M, Schmidt S, Borde J, Klonowska K, Wappenschmidt B, Hauke J, Kozlowski P, Schmutzler RK, Hahnen E, Ernst C. Lepkes L, et al. Among authors: blumcke b. Cancers (Basel). 2021 Jan 1;13(1):118. doi: 10.3390/cancers13010118. Cancers (Basel). 2021. PMID: 33401422 Free PMC article.
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
Borde J, Laitman Y, Blümcke B, Niederacher D, Weber-Lassalle K, Sutter C, Rump A, Arnold N, Wang-Gohrke S, Horváth J, Gehrig A, Schmidt G, Dutrannoy V, Ramser J, Hentschel J, Meindl A, Schroeder C, Wappenschmidt B, Engel C, Kuchenbaecker K, Schmutzler RK, Friedman E, Hahnen E, Ernst C. Borde J, et al. Among authors: blumcke b. BMC Cancer. 2022 Jun 27;22(1):706. doi: 10.1186/s12885-022-09780-1. BMC Cancer. 2022. PMID: 35761208 Free PMC article.
Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer.
Herold N, Schmolling J, Ernst C, Ataseven B, Blümcke B, Schömig-Markiefka B, Heikaus S, Göhring UJ, Engel C, Lampe B, Rhiem K, Harter P, Hauke J, Schmutzler RK, Hahnen E. Herold N, et al. Among authors: blumcke b. Cancer Med. 2023 Jul;12(14):15256-15260. doi: 10.1002/cam4.6214. Epub 2023 Jun 22. Cancer Med. 2023. PMID: 37345881 Free PMC article.
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.
Tüchler A, De Pauw A, Ernst C, Anota A, Lakeman IMM, Dick J, van der Stoep N, van Asperen CJ, Maringa M, Herold N, Blümcke B, Remy R, Westerhoff A, Stommel-Jenner DJ, Frouin E, Richters L, Golmard L, Kütting N, Colas C, Wappenschmidt B, Rhiem K, Devilee P, Stoppa-Lyonnet D, Schmutzler RK, Hahnen E. Tüchler A, et al. Among authors: blumcke b. Breast. 2024 Feb;73:103615. doi: 10.1016/j.breast.2023.103615. Epub 2023 Nov 29. Breast. 2024. PMID: 38061307 Free PMC article.
Implementing mainstream genetic counseling within the area-wide network of the German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC): Satisfaction of primary care providers with the provided state-of-the-art training by the Cologne Center.
Herold N, Bredow K, Ernst C, Tüchler A, Blümcke B, Waha A, Keser E, Hauke J, Wappenschmidt B, Hahnen E, Schmutzler RK, Rhiem K. Herold N, et al. Among authors: blumcke b. J Genet Couns. 2024 Feb;33(1):206-215. doi: 10.1002/jgc4.1870. Epub 2024 Feb 13. J Genet Couns. 2024. PMID: 38351721
12 results