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.

Autor: Moghadasi S; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Meeks HD; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA., Vreeswijk MP; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Janssen LA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Borg Å; Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden., Ehrencrona H; Department of Clinical Genetics, Lund University, Lund, Sweden.; Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services, Lund University, Lund, Sweden., Paulsson-Karlsson Y; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Wappenschmidt B; Centre of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.; Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.; Centre for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, Cologne, Germany., Engel C; Institute for Medical Informatics, University of Leipzig, Leipzig, Germany.; Department of Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Gehrig A; Centre of Familial Breast and Ovarian Cancer, University Würzburg, Würzburg, Germany.; Department of Medical Genetics, University Würzburg, Würzburg, Germany.; Institute of Human Genetics, University Würzburg, Würzburg, Germany., Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Hansen TVO; Center for Genomic Medicine, University of Copenhagen, Copenhagen, DenmarK.; Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK., Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Kruse TA; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Ejlertsen B; Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.; Department of Oncology, University of Copenhagen, Copenhagen, Denmark., Gerdes AM; Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.; Department of Clinical Genetics, University of Copenhagen, Copenhagen, Denmark., Pedersen IS; Section of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark., Caputo SM; Institut Curie, Service de génétique, Paris, France., Couch F; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Hallberg EJ; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA., van den Ouweland AM; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Collée MJ; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Teugels E; Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Belgium., Adank MA; Department of Clinical Genetics, VU Medical Centre, Amsterdam, The Netherlands., van der Luijt RB; Division of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboudumc Nijmegen, The Netherlands., Oosterwijk JC; Department of Genetics, University of Groningen, University Medical Centre, Groningen, The Netherlands., Blok MJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Janin N; Department of Service de Génétique, Cliniques universitaires Saint-Luc, Bruxelles, Belgium., Claes KB; Centre for Medical Genetics, Ghent University Hospital, Belgium., Tucker K; Hereditary Cancer Service, Prince of Wales (and St George Hospitals) Hospital, Randwick, New South Wales, Australia., Viassolo V; Department of Oncogenetics and Cancer Prevention Unit, Geneva University Hospitals, Geneva, Switzerland.; Division of Oncology, Geneva University Hospitals, Geneva, Switzerland., Toland AE; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA., Eccles DE; Faculty of Medicine, University of Southampton, Southampton, UK., Devilee P; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Spurdle AB; Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Australia., Goldgar DE; Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine Salt Lake City, Salt Lake City, Utah, USA., García EG; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.

Publikováno v: Journal of medical genetics [J Med Genet] 2018 Jan; Vol. 55 (1), pp. 15-20. Date of Electronic Publication: 2017 May 10.

BRCA1/2 Mutations and Breast/Ovarian Cancer Risk: A New Insights Review.

Autor: Pourmasoumi P; Department of Biomedical Engineering, Central Tehran Branch, Islamic Azad University, Tehran, Iran., Moradi A; Department of Biology and Anatomical Sciences, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Bayat M; Department of Biology and Anatomical Sciences, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. bayat_m@yahoo.com.; Price Institute of Surgical Research, University of Louisville, Louisville, KY, USA. bayat_m@yahoo.com.; Noveratech LLC of Louisville, Louisville, KY, USA. bayat_m@yahoo.com.

Publikováno v: Reproductive sciences (Thousand Oaks, Calif.) [Reprod Sci] 2024 Dec; Vol. 31 (12), pp. 3624-3634. Date of Electronic Publication: 2024 Aug 06.

Mindfulness, cognitive behavioural and behaviour‐based therapy for natural and treatment‐induced menopausal symptoms: a systematic review and meta‐analysis.

Autor: Driel, CM, Stuursma, A, Schroevers, MJ, Mourits, MJ, Bock, GH

Publikováno v: BJOG: An International Journal of Obstetrics & Gynaecology; Feb2019, Vol. 126 Issue 3, p330-339, 10p, 1 Diagram, 3 Charts

Long-Term Morbidity and Health After Early Menopause Due to Oophorectomy in Women at Increased Risk of Ovarian Cancer: Protocol for a Nationwide Cross-Sectional Study With Prospective Follow-Up (HARMOny Study).

Autor: Terra, Lara¹ (AUTHOR), Hooning, Maartje J² (AUTHOR), Heemskerk-Gerritsen, Bernadette A M² (AUTHOR), Beurden, Marc van³ (AUTHOR), Lennep, Jeanine E Roeters van⁴ (AUTHOR), Doorn, Helena C van⁵ (AUTHOR), Hullu, Joanne A de⁶ (AUTHOR), Mom, Constantijne⁷ (AUTHOR), Dorst, Eleonora B L van⁸ (AUTHOR), Mourits, Marian J E⁹ (AUTHOR), Slangen, Brigitte F M¹⁰ (AUTHOR), Gaarenstroom, Katja N¹¹ (AUTHOR), Zillikens, M Carola⁴ (AUTHOR), Leiner, Tim¹² (AUTHOR), van der Kolk, Lizet¹³ (AUTHOR), Collee, Margriet¹⁴ (AUTHOR), Wevers, Marijke¹⁵ (AUTHOR), Ausems, Margreet G E M¹⁶ (AUTHOR), Engelen, Klaartje van¹⁷ (AUTHOR), Berger, Lieke PV¹⁸ (AUTHOR)

Publikováno v: Journal of Medical Internet Research. Jan2021, Vol. 23 Issue 1, pN.PAG-N.PAG. 1p. 3 Charts.

Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.

Autor: Gietel-Habets, J. J. G., de Die-Smulders, C. E. M., Derks-Smeets, I. A. P., Tibben, A., Tjan-Heijnen, V. C. G., van Golde, R., Gomez-Garcia, E., Kets, C. M., van Osch, L. A. D. M.

Publikováno v: Human Reproduction; Mar2017, Vol. 32 Issue 3, p588-597, 10p, 6 Charts