Publikationen

2019

1. Figlioli, G., et al., The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. NPJ Breast Cancer, 2019. 5: p. 38.

2. Monostori, P., et al., Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation. PLoS One, 2019. 14(2): p. e0212458.

3. Page, E.C., et al., Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers. Eur Urol, 2019 Dec. 76(6): p. 831-842.

4. Neusser, S., et al., The budgetary impact of genetic testing for hereditary breast cancer for the statutory health insurance. Curr Med Res Opin, 2019 Dec. 35(12): p. 2103-2110.

5. Leman, R., et al., Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Nucleic Acids Res, 2019 Dec 21.

6. Yang, X., et al., Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol, 2019 Dec 16: p. JCO1901907.

7. Bredart, A., et al., How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis. Psychooncology, 2019 Dec 11.

8. Li, H., et al., Alcohol consumption, cigarette smoking, and risk of breast cancer for BRCA1 and BRCA2 mutation carriers: results from The BRCA1 and BRCA2 Cohort Consortium. Cancer Epidemiol Biomarkers Prev, 2019 Dec 2.

9. Patel, V.L., et al., Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. Cancer Res, 2019 Nov 13.

10. Bredart, A., et al., Correction to: Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey. J Community Genet, 2019 Oct. 10(4): p. 531.

11. 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.

12. 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.

13. Hauke, J., et al., Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883). J Med Genet, 2019 Sep. 56(9): p. 574-580.

14. Bredart, A., et al., The "Psychosocial Aspects in Hereditary Cancer" questionnaire in women attending breast cancer genetic clinics: Psychometric validation across French-, German- and Spanish-language versions. Eur J Cancer Care (Engl), 2019 Sep 30: p. e13173.

15. 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.

16. Untch, M., et al., NAB-Paclitaxel Improves Disease-Free Survival in Early Breast Cancer: GBG 69-GeparSepto. J Clin Oncol, 2019 Sep 1. 37(25): p. 2226-2234.

17. Thill, M., et al., AGO Recommendations for the Diagnosis and Treatment of Patients with Locally Advanced and Metastatic Breast Cancer: Update 2019. Breast Care (Basel), 2019 Aug. 14(4): p. 247-255.

18. Ditsch, N., et al., AGO Recommendations for the Diagnosis and Treatment of Patients with Early Breast Cancer: Update 2019. Breast Care (Basel), 2019 Aug. 14(4): p. 224-245.

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

20. 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.

21. Loibl, S., et al., A randomised phase II study investigating durvalumab in addition to an anthracycline taxane-based neoadjuvant therapy in early triple-negative breast cancer: clinical results and biomarker analysis of GeparNuevo study. Ann Oncol, 2019 Aug 1. 30(8): p. 1279-1288.

22. 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.

23. Muller, 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 Jul. 20(5): p. 739-750.

24. Puppe, J., et al., EZH2 Is Overexpressed in BRCA1-like Breast Tumors and Predictive for Sensitivity to High-Dose Platinum-Based Chemotherapy. Clin Cancer Res, 2019 Jul 15. 25(14): p. 4351-4362.

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

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

27. 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 May. 175(1): p. 217-228.

28. 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 Res, 2019 Apr 29. 21(1): p. 55.

29. Ferreira, M.A., et al., Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nat Commun, 2019 Apr 15. 10(1): p. 1741.

30. Qian, F., et al., Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. J Natl Cancer Inst, 2019 Apr 1. 111(4): p. 350-364.

31. 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): p. 1761-1763.

32. Luczewski, L., et al., Colour Doppler sonography in the preoperative assessment of the vascular pedicle from the anterolateral thigh flap: proposal for a mathematical formula to predict pedicle length. Eur Arch Otorhinolaryngol, 2019 Mar. 276(3): p. 815-819.

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

34. Engel, C., et al., Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance. Int J Cancer, 2020 Feb 15. 146(4): p. 999-1009.

35. Walker, L.C., et al., Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet, 2019 Jan. 27(1): p. 167-168.

36. Singer, C.F., 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: p. 54-60.

37. Schneeweiss, A., et al., Intense dose-dense epirubicin, paclitaxel, cyclophosphamide versus weekly paclitaxel, liposomal doxorubicin (plus carboplatin in triple-negative breast cancer) for neoadjuvant treatment of high-risk early breast cancer (GeparOcto-GBG 84): A randomised phase III trial. Eur J Cancer, 2019 Jan. 106: p. 181-192.

38. Bredart, A., et al., Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey. J Community Genet, 2019 Jan. 10(1): p. 61-71.

39. 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): p. 21-34.