Publikationen

2020

  1. Barnes, D.R., et al., Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med, 2020 Jul 15.
  2. Silvestri, V., et al., Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). JAMA Oncol, 2020 Jul 2.
  3. Feng, H., et al., Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol, 2020 Jul. 44(5): p. 442-468.
  4. Pashayan, N., et al., Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement. Nat Rev Clin Oncol, 2020 Jun 29.
  5. Pashayan, N., et al., Personalized early detection and prevention of breast cancer: ENVISION consensus statement. Nat Rev Clin Oncol, 2020 Jun 18.
  6. Rippinger, N., et al., Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey. Cancer, 2020 Jun 18.
  7. Liu, J., et al., Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. Sci Rep, 2020 Jun 16. 10(1): p. 9688.
  8. Isselhard, A., et al., Implementation and evaluation of a nurse-led decision-coaching program for healthy breast cancer susceptibility gene (BRCA1/2) mutation carriers: a study protocol for the randomized controlled EDCP-BRCA study. Trials, 2020 Jun 8. 21(1): p. 501.
  9. Zhang, H., et al., Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet, 2020 Jun. 52(6): p. 572-581.
  10. Werutsky, G., et al., Locoregional recurrence risk after neoadjuvant chemotherapy: A pooled analysis of nine prospective neoadjuvant breast cancer trials. Eur J Cancer, 2020 May. 130: p. 92-101.
  11. Wappenschmidt, B., et al., Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer. Geburtshilfe Frauenheilkd, 2020 Apr. 80(4): p. 410-429.
  12. Bredart, A., et al., How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis. Psychooncology, 2020 Mar. 29(3): p. 550-556.
  13. Pohl-Rescigno, E., et al., Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical Trial. JAMA Oncol, 2020 Mar 12.
  14. Yang, X., et al., Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol, 2020 Mar 1. 38(7): p. 674-685.
  15. Yang, X., et al., Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D. J Natl Cancer Inst, 2020 Feb 28.
  16. Mavaddat, N., et al., Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. Breast Cancer Res, 2020 Feb 26. 22(1): p. 25.
  17. 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, 2020 Feb 20. 48(3): p. 1600-1601.
  18. 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.
  19. Patel, V.L., et al., Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. Cancer Res, 2020 Feb 1. 80(3): p. 624-638.
  20. 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, 2020 Feb. 29(2): p. 368-378.
  21. Puesken, M., et al., Ex Vivo Study of Artifacts Caused by Breast Tissue Markers with Different 1.5 Tesla and 3 Tesla MRI Scanners - A Bicentric Study. Acad Radiol, 2020 Jan 30.
  22. 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), 2020 Jan. 29(1): p. e13173.
  23. Escala-Garcia, M., et al., A network analysis to identify mediators of germline-driven differences in breast cancer prognosis. Nat Commun, 2020 Jan 16. 11(1): p. 312.
  24. Mavaddat, N., et al., Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. Breast Cancer Res, 2020 Jan 16. 22(1): p. 8.
  25. Fachal, L., et al., Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet, 2020 Jan. 52(1): p. 56-73.
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.
2018

  1. Muller, 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): p. 341-353.
  2. 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 Dec. 39(12): p. 2040-2046.
  3. Terry, M.B., 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): p. pky078.
  4. 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 Dec. 172(3): p. 561-569.
  5. Cline, M.S., et al., BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genet, 2018 Dec. 14(12): p. e1007752.
  6. 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): p. 2341-2347.
  7. Wockel, 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): p. 1056-1088.
  8. 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): p. 497-503.
  9. 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, Psycho-oncological/Psychosocial Care/Rehabilitation/Patient Information and Healthcare Facilities. Geburtshilfe Frauenheilkd, 2018 Nov. 78(11): p. 1089-1109.
  10. Wockel, 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 Cancer. Geburtshilfe Frauenheilkd, 2018 Oct. 78(10): p. 927-948.
  11. 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 Endometrial Cancer. Geburtshilfe Frauenheilkd, 2018 Oct. 78(10): p. 949-971.
  12. 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): p. 5419-5430.
  13. 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): p. 7913-7923.
  14. 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): p. 968-978.
  15. Shu, X., et al., Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. Int J Epidemiol, 2019 Jun 1. 48(3): p. 795-806.
  16. Rebbeck, T.R., et al., Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat, 2018 May. 39(5): p. 593-620.
  17. 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): p. 729-741.
  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): p. 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): p. 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): p. 452-457.
  21. 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.
  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): p. 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): p. 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): p. 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): p. 265.
  26. Bredart, 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 al., Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. Br J Cancer, 2018 Jan. 118(2): p. 266-276.
  28. Bredart, A., et al., Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries. Fam Cancer, 2018 Jan. 17(1): p. 31-41.
  29. Moghadasi, S., et al., The BRCA1 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): p. 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): p. 7.
2017

  1. Harter, P., et al., Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One, 2017. 12(10): p. e0186043.
  2. Milne, R.L., et al., Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Genet, 2017 Dec. 49(12): p. 1767-1778.
  3. Grill, S., et al., Smoking and physical inactivity increase cancer prevalence in BRCA-1 and BRCA-2 mutation carriers: results from a retrospective observational analysis. Arch Gynecol Obstet, 2017 Dec. 296(6): p. 1135-1144.
  4. Jiao, X., et al., PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. Oncotarget, 2017 Nov 28. 8(61): p. 102769-102782.
  5. Kiechle, M., et al., Feasibility of structured endurance training and Mediterranean diet in BRCA1 and BRCA2 mutation carriers - an interventional randomized controlled multicenter trial (LIBRE-1). BMC Cancer, 2017 Nov 10. 17(1): p. 752.
  6. Michailidou, K., et al., Association analysis identifies 65 new breast cancer risk loci. Nature, 2017 Nov 2. 551(7678): p. 92-94.
  7. Meier, F., et al., [Entitlement to prophylactic treatment in cases of genetic predisposition for breast cancer : Interdisciplinary perspectives]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz, 2017 Oct. 60(10): p. 1102-1108.
  8. Hahnen, E., et al., Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial. JAMA Oncol, 2017 Oct 1. 3(10): p. 1378-1385.
  9. Feng, Y.A., et al., Investigating the genetic relationship between Alzheimer's disease and cancer using GWAS summary statistics. Hum Genet, 2017 Oct. 136(10): p. 1341-1351.
  10. Neidhardt, G., et al., Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol, 2017 Sep 1. 3(9): p. 1245-1248.
  11. Lecarpentier, J., et al., Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. J Clin Oncol, 2017 Jul 10. 35(20): p. 2240-2250.
  12. Kuchenbaecker, K.B., et al., Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers. J Natl Cancer Inst, 2017 Jul 1. 109(7).
  13. Kuchenbaecker, K.B., et al., Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA, 2017 Jun 20. 317(23): p. 2402-2416.
  14. Phelan, C.M., et al., Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet, 2017 May. 49(5): p. 680-691.
  15. Muranen, T.A., et al., Genetic modifiers of CHEK2*1100delC-associated breast cancer risk. Genet Med, 2017 May. 19(5): p. 599-603.
  16. Walker, L.C., et al., Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet, 2017 Apr. 25(4): p. 432-438.
  17. Neidhardt, G., et al., The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer. Eur J Cancer Prev, 2017 Mar. 26(2): p. 165-169.
  18. Hahnen, E., et al., Germline Mutations in Triple-Negative Breast Cancer. Breast Care (Basel), 2017 Mar. 12(1): p. 15-19.
  19. Yang, R., et al., The association between breast cancer and S100P methylation in peripheral blood by multicenter case-control studies. Carcinogenesis, 2017 Mar 1. 38(3): p. 312-320.
  20. Hamdi, Y., et al., Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat, 2017 Jan. 161(1): p. 117-134.
  21. Amos, C.I., et al., The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers. Cancer Epidemiol Biomarkers Prev, 2017 Jan. 26(1): p. 126-135.
2016

  1. 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. 11(7): p. e0158801.
  2. Rhiem, K., et. al., Benchmarking of the DKG check list for inclusion criteria of BRCA testing. Oncol Res Treat, 2016. 39(1): p. 59-59.
  3. Pelttari, L.M., et al., RAD51B in Familial Breast Cancer. PLoS One, 2016. 11(5): p. e0153788.
  4. Neidhardt, G., et. al., Compelling evidence for FANCM as a breast cancer susceptibility gene. Oncol Res Treat, 2016. 39(1): p. 54-54.
  5. 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): p. 194-195.
  6. Horne, H.N., et al., Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus. PLoS One, 2016. 11(8): p. e0160316.
  7. Herold, N., et. al., Evidence for oligogenetic traits in hereditary breast cancer. Oncol Res Treat, 2016. 39(1): p. 4-4.
  8. 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): p. 52-52.
  9. 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): p. 3-4.
  10. 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): p. 81-82.
  11. 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): p. 59-59.
  12. Bauer, P., et al., [Molekulargenetische Diagnostik - Was wissen die Maschinen? Was wollen wir wissen?]. Oncol Res Treat, 2016. 39 Suppl 2: p. 2-23.
  13. Rebbeck, T.R., 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): p. 112.
  14. 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): p. 903-911.
  15. 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): p. 3863-3876.
  16. 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): p. 64191-64202.
  17. 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): p. 1303-1317.
  18. 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: p. 12675.
  19. 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): p. 1052-67.
  20. 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: p. 32512.
  21. 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): p. 5103-14.
  22. 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): p. 2750-60.
  23. 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. 13(8): p. e1002105.
  24. Fackenthal, J.D., et al., Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. J Med Genet, 2016 Aug. 53(8): p. 548-58.
  25. 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: p. 368.
  26. 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): p. 465-71.
  27. 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 Jun 21. 18(1): p. 64.
  28. 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): p. 319-327.
  29. 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): p. 1157-66.
  30. 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): p. 2256-2268.
  31. 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): p. 679-93.
  32. Ovarian Cancer Association Consortium, B.C.A.C., et al., No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecol Oncol, 2016 May. 141(2): p. 386-401.
  33. 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): p. 298-309.
  34. 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): p. 374-86.
  35. Couch, F.J., et al., Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nat Commun, 2016 Apr 27. 7: p. 11375.
  36. 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): p. 866-73.
  37. Petridis, C., et al., Genetic predisposition to ductal carcinoma in situ of the breast. Breast Cancer Res, 2016 Feb 17. 18(1): p. 22.
  38. 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 Feb 9. 18(1): p. 15.
  39. Meeks, H.D., et al., BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst, 2016 Feb. 108(2).
  40. 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): p. 199-203.
  41. 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): p. 137-54.
2015

  1. Blanco, I., et al., Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS One, 2015. 10(4): p. e0120020.
  2. Orr, N., et al., Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. Hum Mol Genet, 2015 May 15. 24(10): p. 2966-84.
  3. Mavaddat, N., et al., Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst, 2015 May. 107(5).
  4. Rebbeck, T.R., et al., Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA, 2015 Apr 7. 313(13): p. 1347-61.
  5. Michailidou, K., et al., Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet, 2015 Apr. 47(4): p. 373-80.
  6. Kuchenbaecker, K.B., et al., Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet, 2015 Feb. 47(2): p. 164-71.
2014

  1. Khan, S., et al., MicroRNA related polymorphisms and breast cancer risk. PLoS One, 2014. 9(11): p. e109973.
  2. Rhiem, K. and R. Schmutzler, Impact of Prophylactic Mastectomy in BRCA1/2 Mutation Carriers. Breast Care (Basel), 2014 Dec. 9(6): p. 385-9.
  3. Kuchenbaecker, K.B., et al., Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res, 2014 Dec 31. 16(6): p. 3416.
  4. Kaufman, B., et al., Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol, 2015 Jan 20. 33(3): p. 244-50.
  5. Glubb, D.M., et al., Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. Am J Hum Genet, 2015 Jan 8. 96(1): p. 5-20.
2013

  1. Schmutzler, R.K., M.A. AGO-Mamma-Empfehlungen, 2013.
  2. Schott, S., et al., Interdisziplinäre Tumorkonferenz - Mammakarzinom nach Radiatio im Kindesalter bei Morbus Hodgkin Erkrankung. Senologie - Zeitschrift für Mammadiagnostik und –therapie, 2013. 10: p. 86-88.
  3. Reintjes, N., et al., Activating somatic FGFR2 mutations in breast cancer. PLoS One, 2013. 8(3): p. e60264.
  4. Hauke, J., et al., A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. PLoS One, 2013. 8(10): p. e76414.
  5. Gaudet, M.M., et al., Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet, 2013. 9(3): p. e1003173.
  6. Couch, F.J., et al., Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet, 2013. 9(3): p. e1003212.
  7. Schnurbein, G., et al., RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families. Breast Cancer Res, 2013 Dec 20. 15(6): p. R120.
  8. Meyer, K.B., et al., Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. Am J Hum Genet, 2013 Dec 5. 93(6): p. 1046-60.
  9. Kobow, K., et al., Deep sequencing reveals increased DNA methylation in chronic rat epilepsy. Acta Neuropathol, 2013 Nov. 126(5): p. 741-56.
  10. Fischer, C., et al., Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium. J Med Genet, 2013 Jun. 50(6): p. 360-7.
  11. Moser, C., et al., A novel Laser Navigation System reduces radiation exposure and improves accuracy and workflow of CT-guided spinal interventions: a prospective, randomized, controlled, clinical trial in comparison to conventional freehand puncture. Eur J Radiol, 2013 Apr. 82(4): p. 627-32.
  12. Michailidou, K., et al., Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet, 2013 Apr. 45(4): p. 353-61, 361e1-2.
  13. Garcia-Closas, M., et al., Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet, 2013 Apr. 45(4): p. 392-8, 398e1-2.
  14. French, J.D., et al., Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet, 2013 Apr 4. 92(4): p. 489-503.
  15. Bojesen, S.E., et al., Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet, 2013 Apr. 45(4): p. 371-84, 384e1-2.
  16. Bosse, K., et al., Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers. Arch Gynecol Obstet, 2014 Mar. 289(3): p. 663-70.
  17. Neroladaki, A., et al., Computed tomography of the chest with model-based iterative reconstruction using a radiation exposure similar to chest X-ray examination: preliminary observations. Eur Radiol, 2013 Feb. 23(2): p. 360-6.
  18. Kreuzer, M., et al., Genetic engineering of Pyrococcus furiosus to use chitin as a carbon source. BMC Biotechnol, 2013 Feb 7. 13: p. 9.
  19. Kaufman, B., et al., Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol, 2015 Jan 20. 33(3): p. 244-50.
  20. Guidugli, L., et al., A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. Cancer Res, 2013 Jan 1. 73(1): p. 265-75.
2012

  1. Couch, F.J., et al., Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet, 2013. 9(3): p. e1003212.
  2. Bojesen S.E., et al., Genetic variants within miR-126 and miR-335 are not associates with breast cancer risk. Breast Cancer Res and Treat, 2012.
  3. Hein, R., et al., Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC). PLoS One, 2012. 7(8): p. e42380.
  4. Kirchhoff, T., et al., Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. PLoS One, 2012. 7(6): p. e35706.
  5. Wappenschmidt, B., et al., Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. PLoS One, 2012. 7(12): p. e50800.
  6. Schmutzler, R.K., D.D., Jöckel K-H. Hoffnung und Fluch der Genanalyse. Deutsches Ärzteblatt, 2012. 26: p. 1371-5.
  7. Rhiem, K., Schmutzler, R.K., Hoffnung und Fluch der Genanalyse. Neue Aspekte in der Therapie des familiären Mamma- und Ovarialkarzinoms. Onkologische Pharmazie, 2012. 14: p. 10-5.
  8. Michailidou, K., et al., Large-scale genotyping identifies 38 new breast cancer susceptibility loci. Nature Genetics, 2012.
  9. Siddiq, A., et al., A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet, 2012 Dec 15. 21(24): p. 5373-84.
  10. Rhiem, K., et al., The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study. Breast Cancer Res, 2012 Dec 7. 14(6): p. R156.
  11. Fischer, C., et al., BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clin Genet, 2012 Nov. 82(5): p. 478-83.
  12. Warren, H., et al., 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev, 2012 Oct. 21(10): p. 1783-91.
  13. Rhiem, K., et al., Risk-reducing Surgery in Women at Risk for Familial Breast or Ovarian Cancer. Geburtshilfe Frauenheilkd, 2012 Sep. 72(9): p. 833-839.
  14. Spurdle, A.B., et al., BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet, 2012 Aug. 49(8): p. 525-32.
  15. Heidemann, S., et al., Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. Breast Cancer Res Treat, 2012 Aug. 134(3): p. 1229-39.
  16. Becker, A.A., et al., A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity. Breast Cancer Res Treat, 2012 Aug. 135(1): p. 167-75.
  17. Ding, Y.C., et al., A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev, 2012 Aug. 21(8): p. 1362-70.
  18. Osorio, A., et al., Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. Hum Mol Genet, 2012 Jul 1. 21(13): p. 2889-98.
  19. Lambrechts, D., et al., 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Hum Mutat, 2012 Jul. 33(7): p. 1123-32.
  20. Couch, F.J., et al., Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev, 2012 Apr. 21(4): p. 645-57.
  21. Stevens, K.N., et al., 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res, 2012 Apr 1. 72(7): p. 1795-803.
  22. Ramus, S.J., et al., Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat, 2012 Apr. 33(4): p. 690-702.
  23. Laitman, Y., et al., The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat, 2012 Apr. 132(3): p. 1119-26.
  24. Garcia-Closas, M., et al., Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet, 2013 Apr. 45(4): p. 392-8, 398e1-2.
  25. Dick, M.G., et al., Association of death receptor 4 variant (683A > C) with ovarian cancer risk in BRCA1 mutation carriers. Int J Cancer, 2012 Mar 15. 130(6): p. 1314-8.
  26. Antoniou, A.C., et al., Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res, 2012 Feb 20. 14(1): p. R33.
  27. Mavaddat, N., et al., Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev, 2012 Jan. 21(1): p. 134-47.
  28. Ghoussaini, M., et al., Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet, 2012 Jan 22. 44(3): p. 312-8.
2011

  1. Mulligan, A.M., et al., Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res, 2011. 13(6): p. R110.
  2. Kast K, M.A., Schmutzler R.K., BRCA12-BRCA2-Prävention-Früherkennung-Mammakarzinom. in Prävention und Früherkennung bei Frauen mit familiärer Krebsbelastung –Empfehlungen des Deutschen Konsortiums „Familiärer Brust- und Eierstockkrebs“, 2011.
  3. Kast K, M.A., Schmutzler R.K., Familiärer Brust- und Eierstockkrebs – Was gibt es Neues?. Onkologie, 2011. 6: p. 4-10.
  4. Rhiem, K., Schmutzler, R.K., Hereditäre Mamma- und Genitalkarzinome. Frauenheilkunde, 2011. 6: p. 369-78.
  5. Schmutzler, R.K., D.S., Preventive Surgery. Breast Care, 2011. 6: p. 153.
  6. Schmutzler, R.K., M.A., Das hereditäre Mammakarzinom: Genetik, Prävention und Therapie. Aktuelle Empfehlungen zur Therapie primärer und forteschrittener Mammakarzinome, 2011
  7. Stevens, K.N., et al., Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. Br J Cancer, 2011 Dec 6. 105(12): p. 1934-9
  8. Ozretic, L., et al., High nuclear poly(adenosine diphosphate-ribose) polymerase expression is predictive for BRCA1- and BRCA2-deficient breast cancer. J Clin Oncol, 2011 Dec 1. 29(34): p. 4586-8; author reply 4588.
  9. Cox, D.G., et al., Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet, 2011 Dec 1. 20(23): p. 4732-47.
  10. Maxwell, C.A., et al., Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. PLoS Biol, 2011 Nov. 9(11): p. e1001199.
  11. Im, K.M., et al., Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Hum Genet, 2011 Nov. 130(5): p. 685-99.
  12. Domchek, S.M., et al., Challenges to the development of new agents for molecularly defined patient subsets: lessons from BRCA1/2-associated breast cancer. J Clin Oncol, 2011 Nov 10. 29(32): p. 4224-6.
  13. von Minckwitz, G., et al., The GISS trial: a phase II prevention trial of screening plus goserelin, ibandronate, versus screening alone in premenopausal women at increased risk of breast cancer. Cancer Epidemiol Biomarkers Prev, 2011 Oct. 20(10): p. 2141-9.
  14. Antoniou, A.C., et al., Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet, 2011 Aug 15. 20(16): p. 3304-21.
  15. Yang, R., et al., Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk. Breast Cancer Res Treat, 2011 Jun. 127(2): p. 549-54.
  16. Wang, F. and Y.F. Zou, Further studies based on better design are needed to explore the association of NPAS2 gene polymorphisms with breast cancer. Breast Cancer Res Treat, 2011 Jun. 127(2): p. 565-8.
  17. Wang, F., et al., A variant affecting miRNAs binding in the circadian gene Neuronal PAS domain protein 2 (NPAS2) is not associated with breast cancer risk. Breast Cancer Res Treat, 2011 Jun. 127(3): p. 769-75.
  18. Pharoah, P.D., et al., The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res, 2011 Jun 1. 17(11): p. 3742-50.
  19. Hellebrand, H., et al., Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. Hum Mutat, 2011 Jun. 32(6): p. E2176-88.
  20. Meindl, A., et al., Hereditary breast and ovarian cancer: new genes, new treatments, new concepts. Dtsch Arztebl Int, 2011 May. 108(19): p. 323-30.
  21. Rhiem, K., et al., Risk-reducing salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers. Arch Gynecol Obstet, 2011 Mar. 283(3): p. 623-7.
  22. Ramus, S.J., et al., Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst, 2011 Jan 19. 103(2): p. 105-16.
2010

  1. Walker, L.C., et al., Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res, 2010. 12(6): p. R102.
  2. Rhiem, K., et al., Das familiäre Mammakarzinom, Der Gynäkologe, 2010. 43: p. 79-86.
  3. Schmutzler R.K., et al., Familiäres Mammakarzinom – Beratung und Betreuung betroffener Familien. Mammakarzinom Interdisziplinär, 2010.
  4. Antoniou, A.C., et al., Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res, 2010 Dec 1. 70(23): p. 9742-54.
  5. Engel, C., et al., Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev, 2010 Nov. 19(11): p. 2859-68.
  6. Gaudet, M.M., et al., Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet, 2010 Oct 28. 6(10): p. e1001183.
  7. Schmutzler, R.K., C. Engel, and I. Schreer, Screening in women at elevated risk for breast cancer. J Clin Oncol, 2010 Oct 20. 28(30): p. e607-8; author reply e609-10.
  8. Antoniou, A.C., et al., A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet, 2010 Oct. 42(10): p. 885-92.
  9. Rhiem, K., et al., Sporadic breast carcinomas with somatic BRCA1 gene deletions share genotype/phenotype features with familial breast carcinomas. Anticancer Res, 2010 Sep. 30(9): p. 3445-9.
  10. Fletcher, O., et al., Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiol Biomarkers Prev, 2010 Sep. 19(9): p. 2143-51.
  11. Tutt, A., et al., Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet, 2010 Jul 24. 376(9737): p. 235-44.
  12. Audeh, M.W., et al., Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet, 2010 Jul 24. 376(9737): p. 245-51.
  13. Wang, X., et al., Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Hum Mol Genet, 2010 Jul 15. 19(14): p. 2886-97.
  14. Yang, R., et al., A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. Breast Cancer Res Treat, 2010 Jun. 121(3): p. 693-702.
  15. Hemminki, K., et al., Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients. Int J Cancer, 2010 Jun 15. 126(12): p. 2858-62.
  16. Flucke, U., et al., Distinguishing medullary carcinoma of the breast from high-grade hormone receptor-negative invasive ductal carcinoma: an immunohistochemical approach. Histopathology, 2010 Jun. 56(7): p. 852-9.
  17. Meindl, A., et al., Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet, 2010 May. 42(5): p. 410-4.
  18. Verderio, P., et al., A BRCA1 promoter variant (rs11655505) and breast cancer risk. J Med Genet, 2010 Apr. 47(4): p. 268-70.
  19. Tchatchou, S., et al., Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity. Hum Mutat, 2010 Jan. 31(1): p. 60-6.
  20. Catucci, I., et al., Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases. Hum Mutat, 2010 Jan. 31(1): p. E1052-7.
2009

  1. Heitmann C, S.R., et al., Brustrekonstruktion durch Eigengewebe bei familiärer Disposition (BRCA1+2-Trägerinnen). Senologie, 2009. 3: p. 203-9.
  2. Kast K, D.W., et al., Risiko für Brust- und Eierstockkrebs: Bedeutung, Beratung, genetische Testung und klinische Empfehlungen zur Prävention. Der Gynäkologe, 2009. 42: p. 847-52.
  3. Schmutzler, R.K., et al., Das hereditäre Mammakarzinom: Genetik und Prävention. Aktuelle Empfehlungen zur Therapie primärer und fortgeschrittener Mammakarzinome, 2009.
  4. Schmutzler, R.K., et al., Hereditary Breast Cancer. Hereditary Tumors, 2009.
  5. Osorio, A., et al., Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). Br J Cancer, 2009 Dec 15. 101(12): p. 2048-54.
  6. Hartmaier, R.J., et al., Nuclear receptor coregulator SNP discovery and impact on breast cancer risk. BMC Cancer, 2009 Dec 14. 9: p. 438.
  7. Graeser, M.K., et al., Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol, 2009 Dec 10. 27(35): p. 5887-92.
  8. Yang, R., et al., Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk. Breast Cancer Res Treat, 2009 Nov. 118(2): p. 407-13.
  9. Antoniou, A.C., et al., Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet, 2009 Nov 15. 18(22): p. 4442-56.
  10. Sinilnikova, O.M., et al., The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Br J Cancer, 2009 Oct 20. 101(8): p. 1456-60.
  11. Rhiem, K., et al., Platinum sensitivity in a BRCA1 mutation carrier with advanced breast cancer. Clin Oncol (R Coll Radiol), 2009 Aug. 21(6): p. 448-50.
  12. Milne, R.L., et al., Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst, 2009 Jul 15. 101(14): p. 1012-8.
  13. Rebbeck, T.R., et al., No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Breast Cancer Res Treat, 2009 May. 115(1): p. 185-92.
  14. Graeser, M., et al., Association of hormone receptor status with grading, age of onset, and tumor size in BRCA1-associated breast cancer. Virchows Arch, 2009 May. 454(5): p. 519-24.
  15. Gaudet, M.M., et al., Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev, 2009 May. 18(5): p. 1610-6.
  16. Klein, A., et al., Identification of brain- and bone-specific breast cancer metastasis genes. Cancer Lett, 2009 Apr 18. 276(2): p. 212-20.
  17. Shephard, N.D., et al., A breast cancer risk haplotype in the caspase-8 gene. Cancer Res, 2009 Apr 1. 69(7): p. 2724-8.
  18. Sadr-Nabavi, A., et al., Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker. Int J Cancer, 2009 Apr 1. 124(7): p. 1727-35.
  19. Dunning, A.M., et al., Association of ESR1 gene tagging SNPs with breast cancer risk. Hum Mol Genet, 2009 Mar 15. 18(6): p. 1131-9.
  20. Tchatchou, S., et al., A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women. Carcinogenesis, 2009 Jan. 30(1): p. 59-64.
2008

  1. Kreienberg, R., et al., Interdisziplinäre S3-Leitlinie für die Diagnostik, Therapie und Nachsorge des Mammakarzinoms. 1. Aktualisierung 2008, ed. D. Krebsgesellschaft, 2008.
  2. Langer St, M.B., et. Al., Sofortrekonstruktion mit freien bilateralen Unterbauchlappen nach prophylaktischer Mastektomie. Plastische Chirurgie, 2008. 8: p. 19-21.
  3. Lüdtke-Heckenkamp K., B.N., Schmutler R.K., Familiärer Brust- und Eierstockkrebs Interdisziplinäres Betreuungskonzept in spezialisierten Zentren. Onkologie, 2008. 2: p. 6-10.
  4. Motameny S., V.B., Schmutzler, R.K. Formal concept analysis for the identification of combinatorial biomarkers in breast cancer. Formal Concept Analysis, 2008: p. 229-240.
  5. Rhiem, K., et al., Vacuum-Sealing as a Treatment Option for Severe Anthracycline Extravasation in a Breast Cancer Patient. Breast Care (Basel), 2008. 3(5): p. 347-348.
  6. Schmutzler, R.K., Hereditäre Brustkrebserkrankung. Stufe-3-Leitlinie Bustkrebs-Früherkennung in Deutschland, 2008.
  7. Schlehe, B. and R. Schmutzler, [Hereditary breast cancer]. Chirurg, 2008 Nov. 79(11): p. 1047-54.
  8. Osorio, A., et al., An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers. Br J Cancer, 2008 Sep 16. 99(6): p. 974-7.
  9. Frank, B., et al., The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study. Breast Cancer Res Treat, 2008 Sep. 111(1): p. 139-44.
  10. Engert, S., et al., MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases. Hum Mutat, 2008 Jul. 29(7): p. 948-58.
  11. Bürki N., Schmutzler, R., Hereditärer Brust- und Eierstockkrebs –Interdisziplinäre Beratung, Diagnostik und Therapie in der Schweiz. Schweizer Zeitschrift für Onkologie, 2008 Jun. 2: p. 6-12.
  12. Gossmann, A., et al., Real-time MR-guided wire localization of breast lesions by using an open 1.0-T imager: initial experience. Radiology, 2008 May. 247(2): p. 535-42.
  13. Albert, U.S., et al., [Summary of the updated stage 3 guideline for early detection of breast cancer in Germany 2008]. Rofo, 2008 May. 180(5): p. 455-65.
  14. Antoniou, A.C., et al., Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet, 2008 Apr. 82(4): p. 937-48.
  15. Frank, B., et al., Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis. J Natl Cancer Inst, 2008 Mar 19. 100(6): p. 437-42.
  16. Yang, R., et al., SNPs in ultraconserved elements and familial breast cancer risk. Carcinogenesis, 2008 Feb. 29(2): p. 351-5.
  17. Ramser, J., et al., Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet, 2008 Jan. 82(1): p. 188-93.
2007

  1. Chenevix-Trench, G., et al., An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res, 2007. 9(2): p. 104.
  2. Rhiem, K., et al., Präventives Versorgungskonzept bei erblichem Brustkrebs. Prävention und Versorgungsforschung, 2007: p. 901-911.
  3. Vaclavicek, A., et al., Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk. Breast Cancer Res Treat, 2007 Dec. 106(2): p. 205-13.
  4. Antoniou, A.C., et al., RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet, 2007 Dec. 81(6): p. 1186-200.
  5. Versmold, B., et al., Epigenetic silencing of the candidate tumor suppressor gene PROX1 in sporadic breast cancer. Int J Cancer, 2007 Aug 1. 121(3): p. 547-54.
  6. Klein, A., et al., Comparison of gene expression data from human and mouse breast cancers: identification of a conserved breast tumor gene set. Int J Cancer, 2007 Aug 1. 121(3): p. 683-8.
  7. Rhiem, K., et al., Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast. Cancer Genet Cytogenet, 2007 Jul 1. 176(1): p. 76-9.
  8. Frank, B., et al., Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk. Carcinogenesis, 2007 Jul. 28(7): p. 1442-5.
  9. Couch, F.J., et al., AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev, 2007 Jul. 16(7): p. 1416-21.
  10. Easton, D.F., et al., Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 2007 Jun 28. 447(7148): p. 1087-93.
  11. Frank, B., et al., BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. BMC Cancer, 2007 May 15. 7: p. 83.
  12. Tchatchou, S., et al., Aurora kinases A and B and familial breast cancer risk. Cancer Lett, 2007 Mar 18. 247(2): p. 266-72.
  13. Wirtenberger, M., et al., The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer. Carcinogenesis, 2007 Feb. 28(2): p. 423-6.
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