Publikationen

2016

1. Ghoussaini M., et al., Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation. Am J Hum Genet. 2016 Oct 6;99(4):903-911. doi: 10.1016/j.ajhg.2016.07.017. Epub 2016 Sep 15.

https://www.ncbi.nlm.nih.gov/pubmed/27640304

2. Petridis C., et. al., Genetic predisposition to ductal carcinoma in situ of the breast. Breast Cancer Res. 2016 Feb 17;18(1):22. doi: 10.1186/s13058-016-0675-7. 

https://www.ncbi.nlm.nih.gov/pubmed/26884359

3. Rebbeck TR., et. al., Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast Cancer Res. 2016 Nov 11;18(1):112. 

https://www.ncbi.nlm.nih.gov/pubmed/27836010

4. Silvestri V., et. al., Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016; 18: 15. Published online 2016 Feb 9. doi: 10.1186/s13058-016-0671-y

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746828/

5. Zeng C., et. al., Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Res. 2016; 18: 64. Published online 2016 Jun 21. doi:  10.1186/s13058-016-0718-0

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962376/

6. Madorsky-Feldman D., et. al., An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2016 Jun;157(2):319-327. doi: 10.1007/s10549-016-3805-0. Epub 2016 Apr 27. 

https://www.ncbi.nlm.nih.gov/pubmed/27117159

7. Zhao Z., et. al., Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry. Cancer Causes Control. 2016 May;27(5):679-93. doi: 10.1007/s10552-016-0741-6. Epub 2016 Apr 6. 

https://www.ncbi.nlm.nih.gov/pubmed/27053251

8. Kar S. P., et. al., Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. Cancer Discov. 2016 Sep; 6(9): 1052–1067. Published online 2016 Jul 17. doi:  10.1158/2159-8290.CD-15-1227

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010513/

9. Fehringer G., et. al., Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. Cancer Res. 2016 Sep 1;76(17):5103-14. doi: 10.1158/0008-5472.CAN-15-2980. Epub 2016 Apr 20. 

https://www.ncbi.nlm.nih.gov/pubmed/27197191

10. Krug B., et. al., Vacuum-assisted breast biopsies (VAB) carried out on an open 1.0T MR imager: Influence of patient and target characteristics on the procedural and clinical results. Eur J Radiol. 2016 Jun;85(6):1157-66. doi: 10.1016/j.ejrad.2016.02.030. Epub 2016 Mar 16. 

https://www.ncbi.nlm.nih.gov/pubmed/27161066

11. Domchek S. M., et. al., Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy. Gynecol Oncol. 2016 Feb;140(2):199-203. doi: 10.1016/j.ygyno.2015.12.020. Epub 2015 Dec 23. 

https://www.ncbi.nlm.nih.gov/pubmed/26723501

12. Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, Hollestelle A., et. al., No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecol Oncol. 2016 May;141(2):386-401. doi: 10.1016/j.ygyno.2015.04.034. Epub 2015 May 2. 

https://www.ncbi.nlm.nih.gov/pubmed/25940428

13. Lei J., et. al., Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium. Hum Genet. 2016 Jan;135(1):137-54. doi: 10.1007/s00439-015-1616-8. Epub 2015 Nov 30. 

https://www.ncbi.nlm.nih.gov/pubmed/26621531

14. Wyszynski A., et. al., An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression. Hum Mol Genet. 2016 Sep 1;25(17):3863-3876. doi: 10.1093/hmg/ddw223. Epub 2016 Jul 11. 

https://www.ncbi.nlm.nih.gov/pubmed/27402876

15. de la Hoya M., et. al., Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. Epub 2016 Mar 23. 

https://www.ncbi.nlm.nih.gov/pubmed/27008870

16. Shi J., et. al., Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer. Int J Cancer. 2016 Sep 15;139(6):1303-1317. doi: 10.1002/ijc.30150. Epub 2016 Jun 17. 

https://www.ncbi.nlm.nih.gov/pubmed/27087578

17. Harter P., et. al., Mutations of risk genes for ovarian cancer in consecutive ovarian cancer patients (AGO TR-1 study). Int J Gynecol Cancer. 2016;26 3: 81-82.  

18. Marme F., et. al., Incidence of germline mutations in risk genes including BRCA1/2 in consecutive ovarian cancer (OC) patients (AGO TR-1). Int J Gynecol Cancer. 2016;26 3: 194-195. 

19. Schmidt M. K., et. al., Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers. J Clin Oncol. 2016 Aug 10;34(23):2750-60. doi: 10.1200/JCO.2016.66.5844. Epub 2016 Jun 6. 

https://www.ncbi.nlm.nih.gov/pubmed/27269948

20. Easton D. F., et. al., No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26. 

https://www.ncbi.nlm.nih.gov/pubmed/26921362

21. Fackenthal J. D., et. al., Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. J Med Genet. 2016 Aug;53(8):548-58. doi: 10.1136/jmedgenet-2015-103570. Epub 2016 Apr 8. 

https://www.ncbi.nlm.nih.gov/pubmed/27060066

22. Kast K., et. al., Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet. 2016 Jul;53(7):465-71. doi: 10.1136/jmedgenet-2015-103672. Epub 2016 Feb 29. 

https://www.ncbi.nlm.nih.gov/pubmed/26928436

23. Meeks H. D., et. al., BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst. 2015 Nov 19;108(2). pii: djv315. doi: 10.1093/jnci/djv315. Print 2016 Feb. 

https://www.ncbi.nlm.nih.gov/pubmed/26586665

24. Forbes J. F., et. al., Anastrozole versus tamoxifen for the prevention of locoregional and contralateral breast cancer in postmenopausal women with locally excised ductal carcinoma in situ (IBIS-II DCIS): a double-blind, randomised controlled trial. Lancet. 2016 Feb 27;387(10021):866-73. doi: 10.1016/S0140-6736(15)01129-0. Epub 2015 Dec 11. 

https://www.ncbi.nlm.nih.gov/pubmed/26686313

25. Couch F. J., et. al., Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nat Commun. 2016 Apr 27;7:11375. doi: 10.1038/ncomms11375. 

https://www.ncbi.nlm.nih.gov/pubmed/27117709

26. Lawrenson K., et. al., Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nat Commun. 2016 Sep 7;7:12675. doi: 10.1038/ncomms12675. 

https://www.ncbi.nlm.nih.gov/pubmed/27601076

27. Dunning A. M., et. al., Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016 Apr;48(4):374-86. doi: 10.1038/ng.3521. Epub 2016 Feb 29. 

https://www.ncbi.nlm.nih.gov/pubmed/26928228

28. Bauer P., et. al., Molecular Genetic Diagnosis - What we do know about Machines? What we do want to know? Oncol Res Treat. 2016;39 2: 3-24.  

29. Dukatz R., et. al., Feasibility assessment on a lifestyle intervention in healthy and diseased BRCA 1/2 mutation carriers. Oncol Res Treat. 2016;39 1: 59-59.  

30. Hauke J., et. al., Performance of prediction programs on clearly pathogenic or neutral BRCA1/2 missense variants from GC-HBOC. Oncol Res Treat. 2016;39 1: 3-4. 

31. Heimbach A., et. al., TruRisk® based next-generation sequencing reveals a high prevalence of deleterious ATM mutations in BRCA1/2-negative breast and ovarian cancer families. Oncol Res Treat. 2016;39 1: 52-52.  

32. Herold N., et. al., Evidence for oligogenetic traits in hereditary breast cancer. Oncol Res Treat. 2016;39 1: 4-4.

33. Neidhardt G., et. al., Compelling evidence for FANCM as a breast cancer susceptibility gene. Oncol Res Treat. 2016;39 1: 54-54.

34. Rhiem K., et. al., Benchmarking of the DKG check list for inclusion criteria of BRCA testing. Oncol Res Treat. 2016;39 1: 59-59.  

35. Tang Q., et. al., DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA. Oncotarget. 2016 Sep 27;7(39):64191-64202. doi: 10.18632/oncotarget.11640. 

https://www.ncbi.nlm.nih.gov/pubmed/27577081

36. Guo Y., et. al., Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent. PLoS Med. 2016 Aug 23;13(8):e1002105. doi: 10.1371/journal.pmed.1002105. eCollection 2016 Aug. 

https://www.ncbi.nlm.nih.gov/pubmed/27551723

37. Horne H. N., et. al., Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus. PLoS One. 2016 Aug 24;11(8):e0160316. doi: 10.1371/journal.pone.0160316. eCollection 2016. 

https://www.ncbi.nlm.nih.gov/pubmed/27556229

38. Pelttari L. M., et. al., RAD51B in Familial Breast Cancer. PLoS One. 2016 May 5;11(5):e0153788. doi: 10.1371/journal.pone.0153788. eCollection 2016. 

https://www.ncbi.nlm.nih.gov/pubmed/27149063

39. Vigorito E., et. al., Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLoS One. 2016 Jul 27;11(7):e0158801. doi: 10.1371/journal.pone.0158801. eCollection 2016. 

https://www.ncbi.nlm.nih.gov/pubmed/27463617

40. Darabi H., et. al., Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). Sci Rep. 2016 Sep 7;6:32512. doi: 10.1038/srep32512. 

https://www.ncbi.nlm.nih.gov/pubmed/27600471

41. Kiechle M., et. al., Effects of lifestyle intervention in BRCA1/2 mutation carriers on nutrition, BMI, and physical fitness (LIBRE study): study protocol for a randomized controlled trial. Trials. 2016 Jul 29;17:368. doi: 10.1186/s13063-016-1504-0.  

https://www.ncbi.nlm.nih.gov/pubmed/27473440