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Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Wilcox N, Dumont M, González-Neira A, Carvalho S, Joly Beauparlant C, Crotti M, Luccarini C, Soucy P, Dubois S, Nuñez-Torres R, Pita G, Gardner EJ, Dennis J, Alonso MR, Álvarez N, Baynes C, Collin-Deschesnes AC, Desjardins S, Becher H, Behrens S, Bolla MK, Castelao JE, Chang-Claude J, Cornelissen S, Dörk T, Engel C, Gago-Dominguez M, Guénel P, Hadjisavvas A, Hahnen E, Hartman M, Herráez B; SGBCC Investigators; Jung A, Keeman R, Kiechle M, Li J, Loizidou MA, Lush M, Michailidou K, Panayiotidis MI, Sim X, Teo SH, Tyrer JP, van der Kolk LE, Wahlström C, Wang Q, Perry JRB, Benitez J, Schmidt MK, Schmutzler RK, Pharoah PDP, Droit A, Dunning AM, Kvist A, Devilee P, Easton DF, Simard J. Wilcox N, et al. Among authors: schmutzler rk. Nat Genet. 2023 Sep;55(9):1435-1439. doi: 10.1038/s41588-023-01466-z. Epub 2023 Aug 17. Nat Genet. 2023. PMID: 37592023 Free PMC article.
[Counselling, genetic testing and prevention in women with hereditary breast- and ovarian cancer. Interdisciplinary recommendations of the consortium "Hereditary Breast- and Ovarian Cancer" of the German Cancer AiD].
Schmutzler R, Schlegelberger B, Meindl A, Gerber WD, Kiechle M; Hereditary Breast- and Ovarian Cancer Consortium, German Cancer AiD. Schmutzler R, et al. Zentralbl Gynakol. 2003 Dec;125(12):494-506. doi: 10.1055/s-2003-44815. Zentralbl Gynakol. 2003. PMID: 14755360 German.
Limited relevance of the CHEK2 gene in hereditary breast cancer.
Dufault MR, Betz B, Wappenschmidt B, Hofmann W, Bandick K, Golla A, Pietschmann A, Nestle-Krämling C, Rhiem K, Hüttner C, von Lindern C, Dall P, Kiechle M, Untch M, Jonat W, Meindl A, Scherneck S, Niederacher D, Schmutzler RK, Arnold N. Dufault MR, et al. Among authors: schmutzler rk. Int J Cancer. 2004 Jun 20;110(3):320-5. doi: 10.1002/ijc.20073. Int J Cancer. 2004. PMID: 15095295 Free article.
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer.
Wirtenberger M, Frank B, Hemminki K, Klaes R, Schmutzler RK, Wappenschmidt B, Meindl A, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B. Wirtenberger M, et al. Among authors: schmutzler rk. Carcinogenesis. 2006 Aug;27(8):1655-60. doi: 10.1093/carcin/bgi374. Epub 2006 Feb 25. Carcinogenesis. 2006. PMID: 16501249 Clinical Trial.
Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer.
Wirtenberger M, Tchatchou S, Hemminki K, Schmutzhard J, Sutter C, Schmutzler RK, Meindl A, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B. Wirtenberger M, et al. Among authors: schmutzler rk. Carcinogenesis. 2006 Nov;27(11):2201-8. doi: 10.1093/carcin/bgl067. Epub 2006 May 15. Carcinogenesis. 2006. PMID: 16704985
Aurora kinases A and B and familial breast cancer risk.
Tchatchou S, Wirtenberger M, Hemminki K, Sutter C, Meindl A, Wappenschmidt B, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B. Tchatchou S, et al. Among authors: schmutzler rk. Cancer Lett. 2007 Mar 18;247(2):266-72. doi: 10.1016/j.canlet.2006.05.002. Epub 2006 Jun 9. Cancer Lett. 2007. PMID: 16762494
The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.
Wirtenberger M, Schmutzhard J, Hemminki K, Meindl A, Sutter C, Schmutzler RK, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B. Wirtenberger M, et al. Among authors: schmutzler rk. Carcinogenesis. 2007 Feb;28(2):423-6. doi: 10.1093/carcin/bgl164. Epub 2006 Sep 6. Carcinogenesis. 2007. PMID: 16956908
BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.
Frank B, Hemminki K, Meindl A, Wappenschmidt B, Sutter C, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B. Frank B, et al. Among authors: schmutzler rk. BMC Cancer. 2007 May 15;7:83. doi: 10.1186/1471-2407-7-83. BMC Cancer. 2007. PMID: 17504528 Free PMC article.
366 results