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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.
The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
Bancroft EK, Page EC, Brook MN, Pope J, Thomas S, Myhill K, Helfand BT, Talaty P, Ong KR, Douglas E, Cook J, Rosario DJ, Salinas M, Buys SS, Anson J, Davidson R, Longmuir M, Side L, Eccles DM, Tischkowitz M, Taylor A, Cruellas M, Ballestero EP, Cleaver R, Varughese M, Barwell J, LeButt M, Greenhalgh L, Hart R, Azzabi A, Jobson I, Cogley L, Evans DG, Rothwell J, Taylor N, Hogben M, Saya S; IMPACT Study Steering Committee; IMPACT Collaborators; Eeles RA, Aaronson NK. Bancroft EK, et al. BJU Int. 2024 Jun 5. doi: 10.1111/bju.16432. Online ahead of print. BJU Int. 2024. PMID: 38839570
Recommended data elements for health registries: a survey from a German funding initiative.
Harkener S, Jenetzky E, Rupp R, Dell J, Engel C, von Bargen MF, Finger R, Glienke M, Heinz C, Jersch P, Martin D, Schmutzler R, Schönthaler M, Suwelack B, Wegner J, Stausberg J. Harkener S, et al. Among authors: schmutzler r. BMC Med Inform Decis Mak. 2024 May 27;24(1):136. doi: 10.1186/s12911-024-02535-x. BMC Med Inform Decis Mak. 2024. PMID: 38802886 Free PMC article.
511 results