Publikationen

Publikationen

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

Bojesen, S.E., Pooley, K.A., Johnatty, S.E., Beesley, J., Michailidou, K., Tyrer, J.P., Edwards, S.L., Pickett, H.A., Shen, H.C., Smart, C.E. et al. Nature genetics, 45, 371-384.

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

Bojesen, S.E., Pooley, K.A., Johnatty, S.E., Beesley, J., Michailidou, K., Tyrer, J.P., Edwards, S.L., Pickett, H.A., Shen, H.C., Smart, C.E. et al. Nature genetics, 45, 371-384, 384e371-372.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.

Couch, F.J., Wang, X., McGuffog, L., Lee, A., Olswold, C., Kuchenbaecker, K.B., Soucy, P., Fredericksen, Z., Barrowdale, D., Dennis, J. et al. PLoS genetics, 9, e1003212.

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Couch, F.J., Wang, X., McGuffog, L., Lee, A., Olswold, C., Kuchenbaecker, K.B., Soucy, P., Fredericksen, Z., Barrowdale, D., Dennis, J. et al. PLoS genetics, 9, e1003212.

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. Journal of medical genetics, in press.

Fischer, C., Kuchenbacker, K., Engel, C., Zachariae, S., Rhiem, K., Meindl, A., Rahner, N., Dikow, N., Plendl, H., Debatin, I. 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.

Fischer, C., Kuchenbacker, K., Engel, C., Zachariae, S., Rhiem, K., Meindl, A., Rahner, N., Dikow, N., Plendl, H., Debatin, I. et al. Journal of medical genetics, 50, 360-367.

Evaluating the performance of the breast cancer risk models BOADICEA, IBIS, BRCAPRO, and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7,352 families from the German Hereditary Breast and Ovarian Cancer Consortium Journal of medical genetics, accepted.

Fischer C, K.K., Engel C, ..., Schmutzler R

Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers. American journal of human genetics, in press.

French, J.D., Ghoussaini, M., Edwards, S.L., Meyer, K.B., Michailidou, K., Ahmed, S., Khan, S., Maranian, M.J., O'Reilly, M., Hillman, K.M. et al.

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.

French, J.D., Ghoussaini, M., Edwards, S.L., Meyer, K.B., Michailidou, K., Ahmed, S., Khan, S., Maranian, M.J., O'Reilly, M., Hillman, K.M. et al. American journal of human genetics, 92, 489-503.

Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

Garcia-Closas, M., Couch, F.J., Lindstrom, S., Michailidou, K., Schmidt, M.K., Brook, M.N., Orr, N., Rhie, S.K., Riboli, E., Feigelson, H.S. et al. Nature genetics, 45, 392-398.

Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

Garcia-Closas, M., Couch, F.J., Lindstrom, S., Michailidou, K., Schmidt, M.K., Brook, M.N., Orr, N., Rhie, S.K., Riboli, E., Feigelson, H.S. et al. Nature genetics, 45, 392-398, 398e391-392.

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk.

Gaudet, M.M., Kuchenbaecker, K.B., Vijai, J., Klein, R.J., Kirchhoff, T., McGuffog, L., Barrowdale, D., Dunning, A.M., Lee, A., Dennis, J. et al. PLoS genetics, 9, e1003173.

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

Gaudet, M.M., Kuchenbaecker, K.B., Vijai, J., Klein, R.J., Kirchhoff, T., McGuffog, L., Barrowdale, D., Dunning, A.M., Lee, A., Dennis, J. et al. PLoS genetics, 9, e1003173.

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

Guidugli, L., Pankratz, V.S., Singh, N., Thompson, J., Erding, C.A., Engel, C., Schmutzler, R., Domchek, S., Nathanson, K., Radice, P. et al. Cancer research, 73, 265-275.

(2013) A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype.

Hauke, J., Schild, A., Neugebauer, A., Lappa, A., Fricke, J., Fauser, S., Rosler, S., Pannes, A., Zarrinnam, D., Altmuller, J. et al. PloS one, 8, e76414.

(2013) Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation: an open-label phase II study. ASCO 2013, submitted.

Kaufman B, S.-F.R., Schmutzler RK ... Domcheck S. 

(2013) Deep sequencing reveals increased DNA methylation in chronic rat epilepsy.

Kobow, K., Kaspi, A., Harikrishnan, K.N., Kiese, K., Ziemann, M., Khurana, I., Fritzsche, I., Hauke, J., Hahnen, E., Coras, R. et al. Acta neuropathologica, 126, 741-756.

Genetic engineering of Pyrococcus furiosus to use chitin as a carbon source.

Kreuzer, M., Schmutzler, K., Waege, I., Thomm, M. and Hausner, W. BMC biotechnology, 13, 9.

Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

Michailidou, K., Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R.L., Schmidt, M.K., Chang-Claude, J., Bojesen, S.E., Bolla, M.K. et al. Nature genetics, 45, 353-361.

Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

Michailidou, K., Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R.L., Schmidt, M.K., Chang-Claude, J., Bojesen, S.E., Bolla, M.K. et al. Nature genetics, 45, 353-361, 361e351-352.

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.

Moser, C., Becker, J., Deli, M., Busch, M., Boehme, M. and Groenemeyer, D.H. European journal of radiology, 82, 627-632.

Computed tomography of the chest with model-based iterative reconstruction using a radiation exposure similar to chest X-ray examination: preliminary observations.

Neroladaki, A., Botsikas, D., Boudabbous, S., Becker, C.D. and Montet, X. European radiology, 23, 360-366.

Activating Somatic FGFR2 Mutations in Breast Cancer.

Reintjes, N., Li, Y., Becker, A., Rohmann, E., Schmutzler, R. and Wollnik, B. PloS one, 8, e60264.

Interdisziplinäre Tumorkonferenz - Mammakarzinom nach Radiatio im Kindesalter bei Morbus Hodgkin Erkrankung.

S. Schott, J.H., A. Stieber, A. Harcos, H. Junkermann, K. Lindel, H. P. Sinn, A. Schneeweiss, G. Schellong, R. K. Schmutzler, C. Sohn, M. Golatta. Senologie - Zeitschrift für Mammadiagnostik und -therapie 10, 86-88.

Schmutzler R, M.A. (2013), In AGO-Mamma-Empfehlungen 2013, Zuckschwerdt Verlag, in press.

 

Schnurbein G, Hauke J, Wappenschmidt B, Weber-Lassalle N, Engert S, Hellebrand H, Garbes L, Becker A, Neidhardt G, Rhiem K, Meindl A, Schmutzler RK, Hahnen E. 1.

 

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.

Breast Cancer Res. 2013 Dec 20;15(6):R120. [Epub ahead of print]

Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1.

Meyer KB, O'Reilly M, Michailidou K, Carlebur S, Edwards SL, French JD, Prathalingham R, Dennis J, Bolla MK, Wang Q, de Santiago I, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Schmidt MK, Broeks A, Van 't Veer LJ, Hogervorst FB, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Lux MP, Ekici AB, Beckmann MW, Peto J, Dos Santos Silva I, Fletcher O, Johnson N, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias JI, Benitez J, Neuhausen S, Anton-Culver H, Ziogas A, Dur CC, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Schmutzler RK, Engel C, Ditsch N, Brauch H, Brüning T, Ko YD; GENICA Network, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Yatabe Y, Dörk T, Helbig S, Bogdanova NV, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G; kConFab Investigators; Australian Ovarian Cancer Study Group, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Thienpont B, Christiaens MR, Smeets A, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Bernard L, Couch FJ, Olson JE, Wang X, Purrington K, Giles GG, Severi G, Baglietto L, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, Phuah SY, Kristensen V, Grenaker Alnæs G, Børresen-Dale AL, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar RA, Seynaeve CM, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson K, Hooning MJ, Martens JW, van den Ouweland AM, van Deurzen CH, Hall P, Li J, Liu J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cox A, Reed MW, Blot W, Signorello LB, Cai Q, Pharoah PD, Ghoussaini M, Harrington P, Tyrer J, Kang D, Choi JY, Park SK, Noh DY, Hartman M, Hui M, Lim WY, Buhari SA, Hamann U, Försti A, Rüdiger T, Ulmer HU, Jakubowska A, Lubinski J, Jaworska K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Vachon C, Slager S, Fostira F, Pilarski R, Shen CY, Hsiung CN, Wu PE, Hou MF, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Ponder BA, Dunning AM, Easton DF. Am J Hum Genet. 2013 Dec 5;93(6):1046-60. doi: 10.1016/j.ajhg.2013.10.026. Epub 2013 Nov 27.

Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 carriers mutation.

Bosse K, Graeser M, Goßmann A, Hackenbroch M, Schmutzler RK, Rhiem K.. Arch Gynecol Obstet. 2013 Sep 18. [Epub ahead of print]