Publikationen

2019

1. Bredart, A., et al., Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study. BMJ Open, 2019 Sep 24. 9(9): p. e029926.

2. Keupp, K., et al., Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. Mol Genet Genomic Med, 2019 Sep. 7(9): p. e863.

3. Parsons, M.T., et al., 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): p. 1557-1578.

4. Page, E.C., et al., Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers. Eur Urol, 2019 Sep 12.

5. Neusser, S., et al., The budgetary impact of genetic testing for hereditary breast cancer for the statutory health insurance. Curr Med Res Opin, 2019 Sep 9: p. 1-8.

6. Dork, T., et al., Two truncating variants in FANCC and breast cancer risk. Sci Rep, 2019 Aug 29. 9(1): p. 12524.

7. Sepahi, I., et al., Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. BMC Cancer, 2019 Aug 8. 19(1): p. 787.

8. Qian, F., et al., Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. Br J Cancer, 2019 Jul. 121(2): p. 180-192.

9. Grinstein O, et al. Residual glandular tissue (RGT) in BRCA1/2 germline mutation carriers with unilateral and bilateral prophylactic mastectomies. Surgical oncology. 2019 Jun;29:126-133.

10. Parsons MT, et al. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Human mutation. 2019 May 27.

11. Rhiem K, et al. Benchmarking of a checklist for the identification of familial risk for breast and ovarian cancers in a prospective cohort. The breast journal. 2019 May;25(3):455-460.

12. Engel C, et al. Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance. International journal of cancer. 2019 May 13.

13. Weber-Lassalle N, et al. Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast cancer research : BCR. 2019 Apr 29;21(1):55.

14. Puppe J, et al. EZH2 Is Overexpressed in BRCA1-like Breast Tumors and Predictive for Sensitivity to High-Dose Platinum-Based Chemotherapy. Clinical cancer research : an official journal of the American Association for Cancer Research. 2019 Apr 29.

15. Ferreira MA, et al. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature communications. 2019 Apr 15;10(1):1741.

16. Hauke J, et al. Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). Journal of medical genetics. 2019 Apr 12.

17. Klaschik K. et al., The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers. Int J Cancer. 2019 Apr 1;144(7):1761-1763.

18. Escala-Garcia M. et al., Genome-wide association study of germline variants and breast cancer-specific mortality. Br J Cancer. 2019 Mar;120(6):647-657.

19. Müller D. et al., Economic modeling of risk-adapted screen-and-treat strategies in women at high risk for breast or ovarian cancer. Eur J Health Econ. 2019 Feb 21. doi: 10.1007/s10198-019-01038-1.

20. Bick U. et al., High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer. Breast Cancer Res Treat. 2019 Feb 6. doi: 10.1007/s10549-019-05152-9.

21. Singer CF. Et al., Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations. Eur J Cancer. 2019 Jan;106:54-60.

22. Mavaddat N. et al., Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. Am J Hum Genet. 2019 Jan 3;104(1):21-34.