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Items: 14

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, Faust U, Felbor U, Feroce I, Fine M, 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, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Pérez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 May 27. doi: 10.1002/humu.23818. [Epub ahead of print]

PMID:
31131967
2.

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).

Int J Cancer. 2019 May 13. doi: 10.1002/ijc.32396. [Epub ahead of print]

PMID:
31081934
3.

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.

Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29.

PMID:
30063918
4.

The association between unemployment and depression-Results from the population-based LIFE-adult-study.

Zuelke AE, Luck T, Schroeter ML, Witte AV, Hinz A, Engel C, Enzenbach C, Zachariae S, Loeffler M, Thiery J, Villringer A, Riedel-Heller SG.

J Affect Disord. 2018 Aug 1;235:399-406. doi: 10.1016/j.jad.2018.04.073. Epub 2018 Apr 10.

PMID:
29677604
5.

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).

BMC Cancer. 2018 Mar 7;18(1):265. doi: 10.1186/s12885-018-4029-y.

6.

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).

J Med Genet. 2016 Jul;53(7):465-71. doi: 10.1136/jmedgenet-2015-103672. Epub 2016 Feb 29.

PMID:
26928436
7.

Incremental value of Veterans Specific Activity Questionnaire and the YMCA-step test for the assessment of cardiorespiratory fitness in population-based studies.

Teren A, Zachariae S, Beutner F, Ubrich R, Sandri M, Engel C, Löffler M, Gielen S.

Eur J Prev Cardiol. 2016 Jul;23(11):1221-7. doi: 10.1177/2047487315621844. Epub 2015 Dec 10.

PMID:
26656282
8.

The LIFE-Adult-Study: objectives and design of a population-based cohort study with 10,000 deeply phenotyped adults in Germany.

Loeffler M, Engel C, Ahnert P, Alfermann D, Arelin K, Baber R, Beutner F, Binder H, Brähler E, Burkhardt R, Ceglarek U, Enzenbach C, Fuchs M, Glaesmer H, Girlich F, Hagendorff A, Häntzsch M, Hegerl U, Henger S, Hensch T, Hinz A, Holzendorf V, Husser D, Kersting A, Kiel A, Kirsten T, Kratzsch J, Krohn K, Luck T, Melzer S, Netto J, Nüchter M, Raschpichler M, Rauscher FG, Riedel-Heller SG, Sander C, Scholz M, Schönknecht P, Schroeter ML, Simon JC, Speer R, Stäker J, Stein R, Stöbel-Richter Y, Stumvoll M, Tarnok A, Teren A, Teupser D, Then FS, Tönjes A, Treudler R, Villringer A, Weissgerber A, Wiedemann P, Zachariae S, Wirkner K, Thiery J.

BMC Public Health. 2015 Jul 22;15:691. doi: 10.1186/s12889-015-1983-z.

9.

Association between IgE-mediated allergies and diabetes mellitus type 1 in children and adolescents.

Klamt S, Vogel M, Kapellen TM, Hiemisch A, Prenzel F, Zachariae S, Ceglarek U, Thiery J, Kiess W.

Pediatr Diabetes. 2015 Nov;16(7):493-503. doi: 10.1111/pedi.12298. Epub 2015 Jul 17.

PMID:
26189407
10.

Reference intervals for leukocyte subsets in adults: Results from a population-based study using 10-color flow cytometry.

Melzer S, Zachariae S, Bocsi J, Engel C, Löffler M, Tárnok A.

Cytometry B Clin Cytom. 2015 Jul-Aug;88(4):270-81. doi: 10.1002/cyto.b.21234. Epub 2015 Apr 29.

11.

Validation of a brief step-test protocol for estimation of peak oxygen uptake.

Beutner F, Ubrich R, Zachariae S, Engel C, Sandri M, Teren A, Gielen S.

Eur J Prev Cardiol. 2015 Apr;22(4):503-12. doi: 10.1177/2047487314533216. Epub 2014 Apr 29.

PMID:
24781201
12.

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.

J Med Genet. 2013 Jun;50(6):360-7. doi: 10.1136/jmedgenet-2012-101415. Epub 2013 Apr 6.

PMID:
23564750
13.

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.

Breast Cancer Res. 2012 Dec 7;14(6):R156. doi: 10.1186/bcr3369.

14.

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.

Clin Genet. 2012 Nov;82(5):478-83. doi: 10.1111/j.1399-0004.2011.01788.x. Epub 2011 Oct 19.

PMID:
21919902

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