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المؤلفون: Raymonda Varon-Manteeva, Bernhard H. F. Weber, Michael Braun, C Scholz, N Herold, Kerstin Rhiem, Britta Bluemcke, Verena Zarghooni, Christoph Engel, Judit Horvath, Dieter Niederacher, Dorothee Speiser, Ulrike Faust, Nicolai Maass, Silke Zachariae, Pauline Wimberger, Nils Rahner, Rita K. Schmutzler, Karin Kast, Nicola Dikow, Eric Hahnen, Barbara Wappenschmidt, Günter Emons, Clemens Mueller-Reible, Norbert Arnold, Marion Kiechle, Nadine Lichey, Guntram Borck, Sarah Schott, Sylvia Stark, Bernd Auber, Christine Fischer, Jan Hauke, Nikolaus de Gregorio, Andrea Gehrig, Tanja Fehm, Alfons Meindl, Nina Ditsch
المصدر: Journal of Medical Genetics. 53:465-471
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Breast Neoplasms, Pedigree chart, Breast Neoplasms, Male, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Germline mutation, Prevalence, Genetics, medicine, Humans, Genetic Predisposition to Disease, Mutation detection, Genetic Testing, Germ-Line Mutation, Genetics (clinical), Genetic testing, BRCA2 Protein, Ovarian Neoplasms, Gynecology, medicine.diagnostic_test, BRCA1 Protein, business.industry, Cancer, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female, Ovarian cancer, business
الوصف: Purpose To characterise the prevalence of pathogenic germline mutations in BRCA1 and BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Patients and methods Data from 21 401 families were gathered between 1996 and 2014 in a clinical setting in the German Consortium for Hereditary Breast and Ovarian Cancer, comprising full pedigrees with cancer status of all individual members at the time of first counselling, and BRCA1/2 mutation status of the index patient. Results The overall BRCA1/2 mutation prevalence was 24.0% (95% CI 23.4% to 24.6%). Highest mutation frequencies were observed in families with at least two OCs (41.9%, 95% CI 36.1% to 48.0%) and families with at least one breast and one OC (41.6%, 95% CI 40.3% to 43.0%), followed by male BC with at least one female BC or OC (35.8%; 95% CI 32.2% to 39.6%). In families with a single case of early BC (
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المؤلفون: N Herold, Rita K. Schmutzler, Verena Zarghooni, Jutta Giesecke, Kirsten Wassermann, M Maringa, Kerstin Rhiem, Simone Reichstein-Gnielinski
المصدر: Journal of Clinical Oncology. 34:1589-1589
مصطلحات موضوعية: Gynecology, Cancer Research, medicine.medical_specialty, education.field_of_study, medicine.diagnostic_test, business.industry, Population, Prophylactic Mastectomy, medicine.disease, Preference, Distress, Breast cancer, Oncology, Family medicine, medicine, Anxiety, medicine.symptom, education, business, Psychosocial, Genetic testing
الوصف: 1589Background: Rates of prophylactic mastectomy (PM) have increased since the 1990ies and particularly after the outing of Angelina Jolie. Sensitive diagnostic tests such as magnetic resonance imaging and genetic testing have been cited as justification for the surgical procedure. However, psychosocial factors influencing patients´ preferences concerning preventive options are still unknown. Methods: From June 2013 to December 2014 BRCA1/2-mutation carriers (n = 159) were investigated in terms of distress (HADS), personality factors (FPI), calculated breast cancer risk and sociodemographic factors concerning their decision about preventive options (intensified breast cancer surveillance and PM) (funded: German Federal Ministry of Health, grant no. IIA5-2512 FSB 002). Results: We identified a significantly increased percentage of healthy and diseased BRCA1/2-mutation carriers with pathologic anxiety levels (HADS-A > 10) (27%) compared to the general population (7%). Moreover, we found a clear association ...
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9fe9172f59dee8e515891989dbf8422b
https://doi.org/10.1200/jco.2016.34.15_suppl.1589 -
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المؤلفون: Christian, Eichler, Annette, Hübbel, Verena, Zarghooni, Anke, Thomas, Oleg, Gluz, Mariam, Stoff-Khalili, Mathias, Warm
المصدر: Anticancer research. 32(3)
مصطلحات موضوعية: Intraoperative Care, Humans, Breast Neoplasms, Female, Mastectomy, Retrospective Studies, Ultrasonography
الوصف: The objective of this study was the investigation of a possible improvement of tumor resection rate, i.e. R0 vs. R1 resection when intraoperative ultrasound evaluation of tissue margins is used during breast-conserving surgery (BCS).A total of 250 cases were evaluated retrospectively. The impact of ultrasound analysis onto clean margin rates was evaluated. A subgroup analysis assessed histology, stage, and neoadjuvant therapy with respect to R0 resection rate and ultrasound evaluation.Of 250 BCS cases 84, (33.6%) underwent intraoperative ultrasound and 166 (66.4%) did not. Clean primary surgical margins (R0) were demonstrated for 218 (87.2%) patients after histological analysis. R0 resection was achieved in 81 (96.4%) patients in the ultrasound group compared to 137 (82.5%) in the control group. The difference between the two groups is significant.This study revealed a significant increase in R0 resection rates when intraoperative ultrasound was used to evaluate surgical margins.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c7a3f7586d1a7e55a317cc6ff4722869
https://pubmed.ncbi.nlm.nih.gov/22399631
