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509 results

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Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR; ACMG Professional Practices and Guidelines Committee. Electronic address: documents@acmg.net. Hanson H, et al. Among authors: schmutzler r. Genet Med. 2023 Oct;25(10):100870. doi: 10.1016/j.gim.2023.100870. Epub 2023 Jul 25. Genet Med. 2023. PMID: 37490054
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.
Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, Dennis J, Tischkowitz M, Downes K, Hu D, Hahnen E, Schmutzler RK, Stockley TL, Downs GS, Zhang T, Chiarelli AM, Bojesen SE, Liu C, Chung WK, Pardo M, Feliubadaló L, Balmaña J, Simard J, Antoniou AC, Easton DF. Mavaddat N, et al. Cancer Epidemiol Biomarkers Prev. 2023 Mar 6;32(3):422-427. doi: 10.1158/1055-9965.EPI-22-0756. Cancer Epidemiol Biomarkers Prev. 2023. PMID: 36649146 Free PMC article.
Effectiveness of evidence-based decision aids for women with pathogenic BRCA1 or BRCA2 variants in the german health care context: results from a randomized controlled trial.
Kautz-Freimuth S, Redaèlli M, Shukri A, Kentenich H, Simic D, Mildenberger V, Schmutzler R, Rhiem K, Stock S. Kautz-Freimuth S, et al. Among authors: schmutzler r. BMC Med Inform Decis Mak. 2023 Oct 16;23(1):223. doi: 10.1186/s12911-023-02327-9. BMC Med Inform Decis Mak. 2023. PMID: 37845719 Free PMC article. Clinical Trial.
EBCC-13 manifesto: Balancing pros and cons for contralateral prophylactic mastectomy.
Schmidt MK, Kelly JE, Brédart A, Cameron DA, de Boniface J, Easton DF, Offersen BV, Poulakaki F, Rubio IT, Sardanelli F, Schmutzler R, Spanic T, Weigelt B, Rutgers EJT. Schmidt MK, et al. Among authors: schmutzler r. Eur J Cancer. 2023 Mar;181:79-91. doi: 10.1016/j.ejca.2022.11.036. Epub 2022 Dec 13. Eur J Cancer. 2023. PMID: 36641897 Free PMC article. Review.
Investigating the genetic relationship between Alzheimer's disease and cancer using GWAS summary statistics.
Feng YA, Cho K, Lindstrom S, Kraft P, Cormack J; IGAP Consortium, Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Transdisciplinary Research in Cancer of the Lung (TRICL); Liang L, Driver JA. Feng YA, et al. Hum Genet. 2017 Oct;136(10):1341-1351. doi: 10.1007/s00439-017-1831-6. Epub 2017 Aug 5. Hum Genet. 2017. PMID: 28780673 Free PMC article.
Decision Coaching for Healthy Women With BRCA1/2 Pathogenic Variants—Findings of the Randomized Controlled EDCP-BRCA Trial.
Stock S, Isselhard A, Shukri A, Kautz-Freimuth S, Redaèlli M, Berger-Höger B, Dikow N, Kiechle M, Köberlein-Neu J, Meisel C, Schmutzler R, Steckelberg A, van Mackelenbergh MT, Vitinius F, Wöckel A, Rhiem K. Stock S, et al. Among authors: schmutzler r. Dtsch Arztebl Int. 2024 Jun 14;(Forthcoming):arztebl.m2024.0049. doi: 10.3238/arztebl.m2024.0049. Online ahead of print. Dtsch Arztebl Int. 2024. PMID: 38629689 Free article. Clinical Trial.
Olaparib Addition to Maintenance Bevacizumab Therapy in Ovarian Carcinoma With BRCA-Like Genomic Aberrations.
Schouten PC, Schmidt S, Becker K, Thiele H, Nürnberg P, Richters L, Ernst C, Treilleux I, Medioni J, Heitz F, Pisano C, Garcia Y, Petru E, Hietanen S, Colombo N, Vergote I, Nagao S, Linn SC, Pujade-Lauraine E, Ray-Coquard I, Harter P, Hahnen E, Schmutzler RK. Schouten PC, et al. Among authors: schmutzler rk. JAMA Netw Open. 2024 Apr 1;7(4):e245552. doi: 10.1001/jamanetworkopen.2024.5552. JAMA Netw Open. 2024. PMID: 38592722 Free PMC article. Clinical Trial.
509 results