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Page 1
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, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: zachariae s. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T; German Consortium for Hereditary Breast and Ovarian Cancer. Fischer C, et al. Among authors: zachariae s. Clin Genet. 2012 Nov;82(5):478-83. doi: 10.1111/j.1399-0004.2011.01788.x. Epub 2011 Oct 19. Clin Genet. 2012. PMID: 21919902
The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study.
Rhiem K, Engel C, Graeser M, Zachariae S, Kast K, Kiechle M, Ditsch N, Janni W, Mundhenke C, Golatta M, Varga D, Preisler-Adams S, Heinrich T, Bick U, Gadzicki D, Briest S, Meindl A, Schmutzler RK. Rhiem K, et al. Among authors: zachariae s. Breast Cancer Res. 2012 Dec 7;14(6):R156. doi: 10.1186/bcr3369. Breast Cancer Res. 2012. PMID: 23216834 Free PMC article.
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
Fischer C, Kuchenbäcker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flöttmann R, Horvath J, Schröck E, Stock F, Schäfer D, Schwaab I, Kartsonaki C, Mavaddat N, Schlegelberger B, Antoniou AC, Schmutzler R; German Consortium for Hereditary Breast and Ovarian Cancer. Fischer C, et al. Among authors: zachariae s. J Med Genet. 2013 Jun;50(6):360-7. doi: 10.1136/jmedgenet-2012-101415. Epub 2013 Apr 6. J Med Genet. 2013. PMID: 23564750
Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer.
Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B, Zarghooni V, Herold N, Ditsch N, Kiechle M, Braun M, Fischer C, Dikow N, Schott S, Rahner N, Niederacher D, Fehm T, Gehrig A, Mueller-Reible C, Arnold N, Maass N, Borck G, de Gregorio N, Scholz C, Auber B, Varon-Manteeva R, Speiser D, Horvath J, Lichey N, Wimberger P, Stark S, Faust U, Weber BH, Emons G, Zachariae S, Meindl A, Schmutzler RK, Engel C; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Kast K, et al. Among authors: zachariae s. J Med Genet. 2016 Jul;53(7):465-71. doi: 10.1136/jmedgenet-2015-103672. Epub 2016 Feb 29. J Med Genet. 2016. PMID: 26928436
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: zachariae s. BMC Cancer. 2018 Mar 7;18(1):265. doi: 10.1186/s12885-018-4029-y. BMC Cancer. 2018. PMID: 29514593 Free PMC article.
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
Engel C, Vasen HF, Seppälä T, Aretz S, Bigirwamungu-Bargeman M, de Boer SY, Bucksch K, Büttner R, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Järvinen H, Kloor M, von Knebel Doeberitz M, Koornstra JJ, van Kouwen M, Langers AM, van de Meeberg PC, Morak M, Möslein G, Nagengast FM, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Sanduleanu S, Schackert HK, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vecht J, Verhulst ML, de Vos Tot Nederveen Cappel W, Zachariae S, Mecklin JP, Loeffler M; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry. Engel C, et al. Among authors: zachariae s. Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29. Gastroenterology. 2018. PMID: 30063918
Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.
Engel C, Fischer C, Zachariae S, Bucksch K, Rhiem K, Giesecke J, Herold N, Wappenschmidt B, Hübbel V, Maringa M, Reichstein-Gnielinski S, Hahnen E, Bartram CR, Dikow N, Schott S, Speiser D, Horn D, Fallenberg EM, Kiechle M, Quante AS, Vesper AS, Fehm T, Mundhenke C, Arnold N, Leinert E, Just W, Siebers-Renelt U, Weigel S, Gehrig A, Wöckel A, Schlegelberger B, Pertschy S, Kast K, Wimberger P, Briest S, Loeffler M, Bick U, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Engel C, et al. Among authors: zachariae s. Int J Cancer. 2020 Feb 15;146(4):999-1009. doi: 10.1002/ijc.32396. Epub 2019 May 22. Int J Cancer. 2020. PMID: 31081934 Free article.
29 results