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Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Wappenschmidt B, Becker AA, Hauke J, Weber U, Engert S, Köhler J, Kast K, Arnold N, Rhiem K, Hahnen E, Meindl A, Schmutzler RK. Wappenschmidt B, et al. Among authors: schmutzler rk. PLoS One. 2012;7(12):e50800. doi: 10.1371/journal.pone.0050800. Epub 2012 Dec 11. PLoS One. 2012. PMID: 23239986 Free PMC article.
Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas.
Freihoff D, Kempe A, Beste B, Wappenschmidt B, Kreyer E, Hayashi Y, Meindl A, Krebs D, Wiestler OD, von Deimling A, Schmutzler RK. Freihoff D, et al. Among authors: schmutzler rk. Br J Cancer. 1999 Feb;79(5-6):754-8. doi: 10.1038/sj.bjc.6690121. Br J Cancer. 1999. PMID: 10070865 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.
411 results