The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report.

Autor: Dinoi E; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Prete A; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Sardella C; Unit of Endocrinology, University Hospital of Pisa, Pisa, Italy., Pierotti L; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Della Valentina S; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Dal Lago A; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Borsari S; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Pardi E; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Caligo MA; Laboratory of Molecular Genetics, University Hospital of Pisa, Pisa, Italy., Michelucci A; Laboratory of Molecular Genetics, University Hospital of Pisa, Pisa, Italy., Torregrossa L; Department of Surgical, Medical, Molecular Pathology and Clinical Area, University Hospital of Pisa, Pisa, Italy., Rossi P; Radiology, Department of Translational Research on New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy., Cetani F; Unit of Endocrinology, University Hospital of Pisa, Pisa, Italy.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Oct 18; Vol. 15, pp. 1414896. Date of Electronic Publication: 2024 Oct 18 (Print Publication: 2024).

Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast.

Autor: Galli A; Yeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy., Bellè F; Yeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy., Fargnoli A; Yeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy., Caligo MA; Molecular Genetics Unit, Department of Oncology, University Hospital of Pisa, 56126 Pisa, Italy., Cervelli T; Yeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 09; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 09.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.

Autor: Barnes DR; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Tyrer JP; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Leslie G; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Lush M; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Aeilts AM; Department of Internal Medicine, Division of Human Genetics, The Ohio State University, Columbus, OH, USA., Aittomäki K; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Andrieu N; Inserm U900, Paris, France.; Institut Curie, Paris, France.; Mines ParisTech, Fontainebleau, France.; PSL Research University, Paris, France., Andrulis IL; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Canada., Anton-Culver H; Department of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA., Arason A; Department of Pathology, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland.; BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Arun BK; Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Department of Medical Oncology, University Hospital of Vall d'Hebron, Barcelona, Spain., Bandera EV; Cancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA., Barkardottir RB; Department of Pathology, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland.; BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Berger LPV; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, The Netherlands., de Gonzalez AB; Clinical Cancer Epidemiology, Institute of Cancer Research, London, UK., Berthet P; Département de Biopathologie, Centre François Baclesse, Caen, France., Białkowska K; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Bjørge L; Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway.; Centre for Cancer Biomarkers CCBIO, Department of Clinical Science, University of Bergen, Bergen, Norway., Blanco AM; Cancer Genetics and Prevention Program, University of California San Francisco, San Francisco, CA, USA., Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Bobolis KA; City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA, USA., Bogdanova NV; Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus., Brenton JD; Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK., Butz H; Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.; National Tumour Biology Laboratory, National Institute of Oncology, Budapest, Hungary.; Department of Oncology Biobank, National Institute of Oncology, Budapest, Hungary., Buys SS; Department of Medicine, Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT, USA., Caligo MA; SOD Genetica Molecolare, University Hospital, Pisa, Italy., Campbell I; Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Castillo C; Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain., Claes KBM; Centre for Medical Genetics, Ghent University, Gent, Belgium.; Department of Biomolecular Medicine, University of Ghent, Ghent, Belgium.; Cancer Research Institute Ghent, Ghent, Belgium., Colonna SV; Department of Internal Medicine, Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT, USA., Cook LS; Department of Epidemiology, Colorado School of Public Health, University of Colorado, Aurora, CO, USA., Daly MB; Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA., Dansonka-Mieszkowska A; Department of Pathology and Laboratory Medicine, Institute of Oncology and Maria Sklodowska-Curie Cancer Center, Warsaw, Poland., de la Hoya M; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., deFazio A; Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney, New South Wales, Australia.; Department of Gynaecological Oncology, Westmead Hospital, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, Sydney, New South Wales, Australia., DePersia A; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA.; The University of Chicago Pritzker School of Medicine, Chicago, IL, USA., Ding YC; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA., Domchek SM; Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA., Dörk T; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany., Einbeigi Z; Department of Oncology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Evans DG; Genomic Medicine, Division of Evolution and Genomic Sciences, The University of Manchester, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK.; Genomic Medicine, North West Genomics hub, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK., Foretova L; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic., Fortner RT; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway., Fostira F; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Foti MC; Veneto Institute of Oncology IOV-IRCSS, Italy., Friedman E; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.; The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.; Assuta Medical Center, Tel-Aviv, Israel., Frone MN; National Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA., Ganz PA; Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, UCLA, Los Angeles, CA, USA., Gentry-Maharaj A; MRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, University College London, London, UK., Glendon G; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Canada., Godwin AK; Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA., González-Neira A; Human Genotyping Unit-CeGen, Spanish National Cancer Research Centre, Madrid, Spain.; Spanish Network on Rare Diseases, Madrid, Spain., Greene MH; National Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA., Gronwald J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Guerrieri-Gonzaga A; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy., Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany., Hansen TVO; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Harris HR; Program in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA., Hauke J; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Heitz F; Department of Gynecology and Gynecologic Oncology, Kliniken Essen-Mitte, Essen, Germany., Hogervorst FBL; Family Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands., Hooning MJ; Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia., Huff CD; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Huntsman DG; British Columbia's Ovarian Cancer Research (OVCARE) Program, BC Cancer, Vancouver General Hospital, and University of British Columbia, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.; Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, BC, Canada.; Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC, Canada., Imyanitov EN; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, St. Petersburg, Russia., Izatt L; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.; Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland., James PA; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.; Parkville Familial Cancer Centre, Peter MacCallum Cancer Center and the Royal Melbourne Hospital, Melbourne, Victoria, Australia., Janavicius R; State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania.; Hematology, Oncology and Transfusion Medicine Center, Oncogenetics Unit, Vilnius University Hospital Santaros Clinics, Vilnius, Lithuania.; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., John EM; Department of Epidemiology & Population Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA.; Department of Medicine (Oncology), Stanford University School of Medicine, Stanford University, Stanford, CA, USA.; Stanford Cancer Institute, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Kar S; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Karlan BY; David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, CA, USA.; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Kennedy CJ; Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney, New South Wales, Australia.; Department of Gynaecological Oncology, Westmead Hospital, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Kiemeney LALM; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Konstantopoulou I; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Kupryjanczyk J; Department of Pathology and Laboratory Medicine, Institute of Oncology and Maria Sklodowska-Curie Cancer Center, Warsaw, Poland., Laitman Y; The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel., Lavie O; Technion-Israel Institute of Technology, Haifa, Israel.; Carmel Medical Center, Haifa, Israel., Lawrenson K; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Women's Cancer Program at the Samuel Oschin Cancer Institute Cedars-Sinai Medical Center, Los Angeles, CA, USA., Lester J; David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles, Los Angeles, CA, USA.; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Lesueur F; Inserm U900, Paris, France.; Institut Curie, Paris, France.; Mines ParisTech, Fontainebleau, France.; PSL Research University, Paris, France., Lopez-Pleguezuelos C; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.; Escola de Doutoramento Internacional, Universidade de Santiago, Santiago de Compostela, Spain., Mai PL; Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy., May T; Princess Margaret Cancer Center, Toronto, Canada., McNeish IA; Division of Cancer and Ovarian Cancer Action Research Centre, Department Surgery & Cancer, Imperial College London, London, UK.; Institute of Cancer Sciences, University of Glasgow, Glasgow, UK., Menon U; MRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, University College London, London, UK., Milne RL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Modugno F; Womens Cancer Research Center, Magee-Womens Research Institute and Hillman Cancer Center, Pittsburgh, PA, USA.; Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Mongiovi JM; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy., Moysich KB; Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA., Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA., Nielsen FC; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Noguès C; Département d'Anticipation et de Suivi des Cancers, Oncogénétique Clinique, Institut Paoli-Calmettes, Marseille, France.; Aix Marseille Université, INSERM, IRD, SESSTIM, Marseille, France., Oláh E; Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary., Olopade OI; Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA., Osorio A; Spanish Network on Rare Diseases, Madrid, Spain.; Familial Cancer Clinical Unit, Human Cancer Genetics Programme, Madrid, Spain., Papi L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy., Pathak H; Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA., Pearce CL; Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI, USA.; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA, USA., Pedersen IS; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Peixoto A; Department of Laboratory Genetics, Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center, Porto, Portugal.; Cancer Genetics Group, IPO Porto Research Center (CI-IPOP) / RISE@CI-IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center, Porto, Portugal., Pejovic T; Department of Obstetrics & Gynecology, Providence Medical Center, Medford, OR, USA.; Providence Cancer Center, Medford, OR, USA., Peng PC; Department of Computational Biomedicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Peshkin BN; Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.; Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research, Georgetown University, Washington, DC, USA., Peterlongo P; Genome Diagnostics Program, IFOM - the FIRC Institute of Molecular Oncology, Milan, Italy., Powell CB; Hereditary Cancer Program, Kaiser Permanente Northern California, San Francisco, CA, USA., Prokofyeva D; Ufa University of Science and Technology, Ufa, Russia., Pujana MA; ProCURE, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain.; ProCURE, IDIBGI (Girona Biomedical Research Institute), Catalan Institute of Oncology, Girona, Spain., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy., Rashid MU; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan., Rennert G; Technion-Israel Institute of Technology, Haifa, Israel.; The Association for Promotion of Research in Precision Medicine, Haifa, Israel., Richenberg G; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK., Sandler DP; Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Rockville, MD, USA., Sasamoto N; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.; Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, MA, USA., Setiawan VW; Department of Population and Public Health Sciences, University of Southern California, Los Angeles, CA, USA., Sharma P; Department of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, KS, USA., Sieh W; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Department of Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Singer CF; Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria., Snape K; Medical Genetics Unit, St George's, University of London, London, UK., Sokolenko AP; Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, St. Petersburg, Russia., Soucy P; Genomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, Canada., Southey MC; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.; Department of Clinical Pathology, Melbourne Medical School, University of Melbourne, Parkville, Victoria, Australia.; Cancer Epidemiology Division, Cancer Council Victoria, East Melbourne, Victoria, Australia., Stoppa-Lyonnet D; Genetics Department, Institut Curie, Paris, France.; Unité INSERM U830, Paris, France.; Université Paris Cité, Paris, France., Sutphen R; Health Informatics Institute, Morsani College of Medicine, University of South Florida, Tampa, FL, USA., Sutter C; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Teixeira MR; Department of Laboratory Genetics, Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center, Porto, Portugal.; Cancer Genetics Group, IPO Porto Research Center (CI-IPOP) / RISE@CI-IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center, Porto, Portugal.; Department of Pathology and Molecular Immunology, School of Medicine and Biomedical Sciences (ICBAS), University of Porto, Porto, Portugal., Terry KL; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Obstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Thomsen LCV; Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway.; Centre for Cancer Biomarkers CCBIO, Department of Clinical Science, University of Bergen, Bergen, Norway.; Medical Birth Registry of Norway, Norwegian Institute of Public Health, Norway., Tischkowitz M; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada.; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK., Toland AE; Department of Internal Medicine, Division of Human Genetics, The Ohio State University, Columbus, OH, USA.; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, USA., Van Gorp T; Division of Gynecologic Oncology, University Hospital Leuven, Leuven, Belgium.; Leuven Cancer Institute, University of Leuven, Leuven, Belgium., Vega A; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Velez Edwards DR; Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA., Webb PM; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Weitzel JN; Clinical Cancer Genomics, City of Hope, Duarte, CA, USA., Wentzensen N; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Whittemore AS; Department of Epidemiology & Population Sciences, Stanford University School of Medicine, Stanford University, Stanford, CA, USA.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA., Winham SJ; Department of Quantitative Health Sciences, Mayo Clinic College of Medicine, Rochester, MN, USA., Wu AH; Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Yadav S; Department of Oncology, Mayo Clinic, Rochester, MN, USA., Yu Y; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Ziogas A; Department of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA., Berchuck A; Department of Gynecologic Oncology, Duke University Hospital, Durham, NC, USA., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Goode EL; Department of Quantitative Health Sciences, Mayo Clinic College of Medicine, Rochester, MN, USA., Goodman MT; Samuel Oschin Comprehensive Cancer Institute, Cancer Prevention and Genetics Program, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Monteiro AN; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA., Offit K; Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.; Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.; AnaNeo Therapeutics, New York, NY, USA., Ramus SJ; School of Clinical Medicine, Faculty of Medicine and Health, University of NSW Sydney, Sydney, New South Wales, Australia.; Adult Cancer Program, Lowy Cancer Research Centre, University of NSW Sydney, Sydney, New South Wales, Australia., Risch HA; Chronic Disease Epidemiology, Yale School of Medicine, New Haven, CT, USA., Schildkraut JM; Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA., Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Genome Center, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Simard J; Genomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, Canada.; Department of Molecular Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada., Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Jones MR; Center for Bioinformatics and Functional Genomics, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Chenevix-Trench G; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Gayther SA; Center for Bioinformatics and Functional Genomics, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Pharoah PDP; Department of Computational Biomedicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 04. Date of Electronic Publication: 2024 Mar 04.

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 ( DMRT1 ) in an SRY -Negative Boy with a 46,XX Disorder of Sex Development.

Autor: Bertini V; Section of Cytogenetics, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Baldinotti F; Section of Molecular Genetics, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Parma P; Department of Agricultural and Environmental Sciences, University of Milan, 20133 Milano, Italy., Tyutyusheva N; Division of Pediatrics, Department of Obstretics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Sepich M; Division of Pediatrics, Department of Obstretics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Bertolucci G; Division of Pediatrics, Department of Obstretics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Rosano C; Proteomics and Mass Spectrometry Unit, Policlinico San Martino, 16132 Genova, Italy., Caligo MA; Section of Molecular Genetics, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Peroni D; Division of Pediatrics, Department of Obstretics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Valetto A; Section of Cytogenetics, Department of Laboratory Medicine, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Bertelloni S; Division of Pediatrics, Department of Obstretics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.

Publikováno v: Genes [Genes (Basel)] 2023 Nov 12; Vol. 14 (11). Date of Electronic Publication: 2023 Nov 12.

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Autor: Dareng, EO, Tyrer, JP, Barnes, DR, Jones, MR, Yang, X, Aben, KKH, Adank, MA, Agata, S, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Aravantinos, G, Arun, BK, Augustinsson, A, Balmaña, J, Bandera, EV, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Bjorge, L, Black, A, Bogdanova, NV, Bonanni, B, Borg, A, Brenton, JD, Budzilowska, A, Butzow, R, Buys, SS, Cai, H, Caligo, MA, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, SJ, Chen, K, Chiew, YE, Chung, WK, Claes, KBM, Colonna, S, Cook, LS, Couch, FJ, Daly, MB, Dao, F, Davies, E, De La Hoya, M, De Putter, R, Dennis, J, DePersia, A, Devilee, P, Diez, O, Ding, YC, Doherty, JA, Domchek, SM, Dörk, T, Du Bois, A, Dürst, M, Eccles, DM, Eliassen, HA, Engel, C, Evans, GD, Fasching, PA, Flanagan, JM, Fortner, RT, Machackova, E, Friedman, E, Ganz, PA, Garber, J, Gensini, F, Giles, GG, Glendon, G, Godwin, AK, Goodman, MT, Greene, MH, Gronwald, J, Hahnen, E, Haiman, CA, Håkansson, N, Hamann, U, Hansen, TVO, Harris, HR, Hartman, M, Heitz, F, Hildebrandt, MAT, Høgdall, E, Høgdall, CK, Hopper, JL, Huang, RY, Huff, C, Hulick, PJ, Huntsman, DG, Imyanitov, EN, Van Der Hout, AH, Isaacs, C, Jakubowska, A, James, PA

Funder: Funding details are provided in the Supplementary Material
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effect

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