Publikationen

2018

1. Terry MB. Et al., The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations. JNCI Cancer Spectr. 2018 Dec;2(4):pky078.

2. Cline MS. et al., BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA PLoS Genet. 2018 Dec 26;14(12):e1007752.

3. Loibl S. et al., Survival analysis of carboplatin added to an anthracycline/taxane-based neoadjuvant chemotherapy and HRD score as predictor of response-final results from GeparSixto. Ann Oncol. 2018 Dec 1;29(12):2341-2347.

4. Tudini E. et al., Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val). Breast Cancer Res Treat. 2018 Nov;172(2):497-503.

5. Wöckel A. et al., Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 2 with Recommendations for the Therapy of Primary, Recurrent and Advanced Breast Cancer. Geburtshilfe Frauenheilkd. 2018 Nov;78(11): 1056-1088.

6. Emons G. et al., Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) - Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative Care, Ps. Geburtshilfe Frauenheilkd. 2018 Nov;78(11):1089-1109.

7. Emons G. et al., Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of End. Geburtshilfe Frauenheilkd. 2018 Oct;78(10):949-971.

8. Wöckel A. et al., Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 1 with Recommendations for the Screening, Diagnosis and Therapy of Breast Ca. Geburtshilfe Frauenheilkd. 2018 Oct;78(10):927-94

9. 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. 2018 Oct 12. doi: 10.1093/jnci/djy132. [Epub ahead of print]

10. Shu X. et al., Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. Int J Epidemiol. 2018 Oct 1. doi: 1093/ije/dyy201. [Epub ahead of print] PubMed PMID: 30277539.

11. Lu Y. et al., A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk. Cancer Res. 2018 Sep 15;78(18):5419-5430.

12. Weber-Lassalle K. et al., Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. Hum Mutat. 2018 Sep 14. doi: 10.1002/humu.23653. [Epub ahead of print] PubMed PMID: 30216591.

13. Du C. et al., A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome. Breast Cancer Res Treat. 2018 Sep 6. doi: 10.1007/s10549-018-4957-x. [Epub ahead of print] PubMed PMID: 30191368.

14. 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. 2018 Sep 6;46(15):7913-7923.

15. Wu L. et al., A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. Nat Genet. 2018 Jul;50(7):968-978.

16. Colombo M. et al., The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Hum Mutat. 2018 May;39(5):729-741.

17. Rebbeck TR. et al., Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 May;39(5):593-620.

18. Herold N. et al., Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature. Oncol Lett. 2018 Apr;15(4):4093-4096.

19. Hauke J. et al., Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med. 2018 Apr;7(4):1349-1358.

20. Catucci I. et al., Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. Genet Med. 2018 Apr;20(4):452-457.

21. Müller D. et al., Cost-effectiveness of different strategies to prevent breast and ovarian cancer in German women with a BRCA 1 or 2 mutation. Eur J Health Econ. 2018 Apr;19(3):341-353.

22. Ellison G. et al., An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice. Hum Mutat. 2018 Mar;39(3):394-405.

23. Ernst C. et al., Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics. BMC Med Genomics. 2018 Mar 27;11(1):35.

24. Mikropoulos C. et al., Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. Br J Cancer. 2018 Mar 20;118(6):e17.

25. Engel C. et al., Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history. BMC Cancer. 2018 Mar 7;18(1):265.

26. Brédart A. et al., Patient-Centered Care in Breast Cancer Genetic Clinics. Int J Environ Res Public Health. 2018 Feb 12;15(2).

27. Mikropoulos C. et a., Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. Br J Cancer. 2018 Jan;118(2):266-276.

28. Brédart A. et al., Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries. Fam Cancer. 2018 Jan;17(1):31-41.

29. Moghadasi S. et al., The c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. J Med Genet. 2018 Jan;55(1):15-20.

30. Weber-Lassalle N. et al., BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res. 2018 Jan 24;20(1):7.