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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.
Hum Mutat. 2019.
PMID: 31131967
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: debatin i.
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
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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: debatin i.
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
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A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.
Dong J, Chang-Claude J, Wu Y, Schumacher V, Debatin I, Tonin P, Royer-Pokora B.
Dong J, et al. Among authors: debatin i.
Hum Genet. 1998 Aug;103(2):154-61. doi: 10.1007/s004390050799.
Hum Genet. 1998.
PMID: 9760198
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Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C.
Frank V, et al. Among authors: debatin i.
Hum Mutat. 2007 Jun;28(6):638-9. doi: 10.1002/humu.9496.
Hum Mutat. 2007.
PMID: 17437276
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Communicating BRCA1 and BRCA2 genetic test results.
Gadzicki D, Wingen LU, Teige B, Horn D, Bosse K, Kreuz F, Goecke T, Schäfer D, Voigtländer T, Fischer B, Froster U, Welling B, Debatin I, Weber BH, Schönbuchner I, Nippert I, Schlegelberger B; German Cancer Aid Consortium on Hereditary Breast and Ovarian Cancer.
Gadzicki D, et al. Among authors: debatin i.
J Clin Oncol. 2006 Jun 20;24(18):2969-70; author reply 2970-1. doi: 10.1200/JCO.2006.06.3750.
J Clin Oncol. 2006.
PMID: 16782939
No abstract available.
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