Search Results - "Schmutzler, R. K."

Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results by Kuhl, C K, Schmutzler, R K, Leutner, C C, Kempe, A, Wardelmann, E, Hocke, A, Maringa, M, Pfeifer, U, Krebs, D, Schild, H H

“…To compare magnetic resonance (MR) imaging with conventional imaging in screening high-risk women. This prospective trial included 192 asymptomatic and six…”
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Neoadjuvant paclitaxel/olaparib in comparison to paclitaxel/carboplatinum in patients with HER2-negative breast cancer and homologous recombination deficiency (GeparOLA study) by Fasching, P.A., Link, T., Hauke, J., Seither, F., Jackisch, C., Klare, P., Schmatloch, S., Hanusch, C., Huober, J., Stefek, A., Seiler, S., Schmitt, W.D., Uleer, C., Doering, G., Rhiem, K., Schneeweiss, A., Engels, K., Denkert, C., Schmutzler, R.K., Hahnen, E., Untch, M., Burchardi, N., Blohmer, J.-U., Loibl, S.

“…The efficacy and toxicity of olaparib as combination therapy in early breast cancer (BC) patients with homologous recombinant deficiency (HRD) [score high…”
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Association of hormone receptor status with grading, age of onset, and tumor size in BRCA1-associated breast cancer by Graeser, M., Bosse, K., Brosig, M., Engel, C., Schmutzler, R. K.

“…BRCA1 -associated breast cancer frequently presents with estrogen-receptor (ERα) and progesterone-receptor (PR) negativity, grade 3, and early onset. In…”
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Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas by FREIHOFF, D, KEMPE, A, SCHMUTZLER, R. K, BESTE, B, WAPPENSCHMIDT, B, KREYER, E, HAYASHI, Y, MEINDL, A, KREBS, D, WIESTLER, O. D, VON DEIMLING, A

“…PTEN is a novel tumour-suppressor gene located on chromosomal band 10q23.3. This region displays frequent loss of heterozygosity (LOH) in a variety of human…”
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Risk-adapted surveillance: focus on familial breast and ovarian cancer by Rhiem, K, Schmutzler, R K

“…Breast cancer surveillance programs for the general population are not adequate for the small number of women with hereditary breast and ovarian cancer…”
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PTEN mutations do not cause nuclear β-catenin accumulation in endometrial carcinomas by Wappenschmidt, B., Wardelmann, E., Gehrig, A., Schöndorf, T., Maass, N., Bonatz, G., Gassel, A.-M., Pietsch, T., Mallmann, P., Weber, B.H.F., Schmutzler, R.K.

“…PTEN and β-catenin mutations constitute the predominant genetic alterations in endometrioid carcinomas of the endometrium. PTEN encodes a dual-specificity…”
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Germline mutation status and therapy response in patients with triple-negative breast cancer (TNBC): Results of the GeparOcto study by Pohl, E., Schneeweiss, A., Hauke, J., Moebus, V., Furlanetto, J., Denkert, C., Fasching, P.A., Hanusch, C., Tesch, H., Weber-Lassalle, N., Müller, V., Rhiem, K., Untch, M., Luebbe, K., Lederer, B., Jackisch, C., Nekljudova, V., Schmutzler, R.K., Hahnen, E., Loibl, S.

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Rolandic discharges: Clinico-neurophysiological correlation by Medeiros, L.L, Yasuda, C, Schmutzler, K.M.R, Guerreiro, M.M

“…Abstract Objective The aim of this study was to analyze neurophysiologic aspects of rolandic discharges. Methods We reviewed 45 electroencephalograms of…”
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Flächendeckende Versorgung von Familien mit erblichem Brust- und Eierstockkrebs by Rhiem, K., Schmutzler, R. K.

“…Zusammenfassung Hintergrund Vor mehr als 20 Jahren wurde das Deutsche Konsortium Familiärer Brust- und Eierstockkrebs (DK) mit Unterstützung der Deutschen…”
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Expression of the ATM gene is significantly reduced in sporadic breast carcinomas by Waha, Andreas, Sturne, Chris, Kessler, Astrid, Koch, Anke, Kreyer, Ellen, Fimmers, Rolf, Wiestler, Otmar D., von Deimling, Andreas, Krebs, Dieter, Schmutzler, Rita K.

“…The gene mutated in ataxia telangiectasia (A‐T) patients (ATM) is located on chromosome 11q22–23, a region frequently altered in mammary tumors. Patients…”
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Risk-reducing Surgery in Women at Risk for Familial Breast or Ovarian Cancer by Rhiem, K., Pfeifer, K., Schmutzler, R. K., Kiechle, M.

“…Abstract An estimated 5 % of breast cancers and 10 % of ovarian cancers may be due to inherited autosomal dominant breast and ovarian cancer alleles BRCA1 und…”
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Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype by KEMPE, A, ENGELS, H, SCHUBERT, R, MEINDL, A, VAN DER VEN, K, PLATH, H, RHIEM, K, SCHWANITZ, G, SCHMUTZLER, R. K

“…An asymptomatic woman (age 38 years) with a family history of ovarian malignancies was referred for presymptomatic genetic testing of mutations in the BRCA…”
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Platinum Sensitivity in a BRCA1 Mutation Carrier with Advanced Breast Cancer by Rhiem, K, Wappenschmidt, B, Bosse, K, Köppler, H, Tutt, A.N, Schmutzler, R.K

“…Abstract Although BRCA1 -associated breast carcinomas are frequently detected in nodal-negative stage, they typically present with an aggressive…”
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Messenger RNA Determination of Estrogen Receptor, Progesterone Receptor, pS2, and Plasminogen Activator Inhibitor-1 by Competitive Reverse Transcription-Polymerase Chain Reaction in Human Breast Cancer by DAN TONG, SCHNEEBERGER, C, CZERWENKA, K, SCHMUTZLER, R. K, SPEISER, P, KUCERA, E, CONCIN, N, KUBISTA, E, LEODOLTER, S, ZEILLINGER, R

“…Estrogen receptor (ER), progesterone receptor (PR), the estrogen-inducible protein pS2, and plasminogen activator inhibitor-1 (PAI-1) are important prognostic…”
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An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers by Osorio, A, Pollán, M, Pita, G, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Preisler-Adams, S, Niederacher, D, Hofmann, W, Gadzicki, D, Jakubowska, A, Hamann, U, Lubinski, J, Toloczko-Grabarek, A, Cybulski, C, Debniak, T, Llort, G, Yannoukakos, D, Díez, O, Peissel, B, Peterlongo, P, Radice, P, Heikkinen, T, Nevanlinna, H, Mai, P L, Loud, J T, McGuffog, L, Antoniou, A C, Benitez, J

“…The close functional relationship between p53 and the breast cancer susceptibility genes BRCA1 and BRCA2 has promoted the investigation of various…”
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A BRCA1 promoter variant (rs11655505) and breast cancer risk by Verderio, Paolo, Pizzamiglio, Sara, Southey, Melissa C, Spurdle, Amanda B, Hopper, John L, Chen, Xiaoqing, Beesley, Jonathan, Schmutzler, Rita K, Engel, Christoph, Burwinkel, Barbara, Bugert, Peter, Ficarazzi, Filomena, Manoukian, Siranoush, Barile, Monica, Wappenschmidt, Barbara, Chenevix-Trench, Georgia, Radice, Paolo, Peterlongo, Paolo

“…A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.-2265C-->T) increases promoter activity and has a…”
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An Optimized Protocol for mRNA Quantification Using Nested Competitive RT-PCR by Watzka, M., Waha, A., Koch, A., Schmutzler, R.K., Bidlingmaier, F., von Deimling, A., Klingmüller, D., Stoffel-Wagner, B.

“…Nested competitive reverse transcription polymerase chain reaction is an effective tool for the quantification of low level expressed mRNAs. Competitive RNA…”
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Genetic research in embryology by Schmutzler, R K

“…Based on findings on the molecular mechanisms of differentiation in drosophila, developmental genes have been identified in mammals similar to those in…”
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Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer by Wirtenberger, Michael, Tchatchou, Sandrine, Hemminki, Kari, Schmutzhard, Julia, Sutter, Christian, Schmutzler, Rita K., Meindl, Alfons, Wappenschmidt, Barbara, Kiechle, Marion, Arnold, Norbert, Weber, Bernhard H. F., Niederacher, Dieter, Bartram, Claus R., Burwinkel, Barbara

“…The mitogen effect of the ovarian steroid estrogen is a strong risk factor for breast cancer development. This effect is mainly mediated by the estrogen…”
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Limited relevance of the CHEK2 gene in hereditary breast cancer by Dufault, Michael R., Betz, Beate, Wappenschmidt, Barbara, Hofmann, Wera, Bandick, Katrin, Golla, Astrid, Pietschmann, Andrea, Nestle‐Krämling, Caroline, Rhiem, Kerstin, Hüttner, Christine, von Lindern, Celia, Dall, Peter, Kiechle, Marion, Untch, Michael, Jonat, Walter, Meindl, Alfons, Scherneck, Siegfried, Niederacher, Dieter, Schmutzler, Rita K., Arnold, Norbert

“…To establish the importance of CHEK2 mutations for familial breast cancer incidence in the German population, we have screened all 14 of the coding exons in…”
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