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Tytuł :
How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial.
Autorzy :
Oliveira FFB; Department of Psychology, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.; Laboratory of Genetics and Molecular Biology, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.
de Barros Silva PG; Laboratory of Genetics and Molecular Biology, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.
de Sant'Ana RO; Laboratory of Genetics and Molecular Biology, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.; Department of Clinical Oncology/Oncogenetics, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.; Medical School, University of Fortaleza (UNIFOR), Fortaleza, Brazil.
de Albuquerque CGP; Laboratory of Genetics and Molecular Biology, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.
Bezerra MJB; Laboratory of Genetics and Molecular Biology, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.
Wong DVT; Laboratory of Genetics and Molecular Biology, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.
da Silveira Bitencourt F; Department of Clinical Oncology/Oncogenetics, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.
de Lima Silva-Fernandes IJ; Laboratory of Genetics and Molecular Biology, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil. .
Lima MVA; Laboratory of Genetics and Molecular Biology, Hospital Haroldo Juaçaba, the Ceará Cancer Institute, Fortaleza, Brazil.
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Źródło :
Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer [Support Care Cancer] 2021 Jul; Vol. 29 (7), pp. 3521-3530. Date of Electronic Publication: 2020 Nov 05.
Typ publikacji :
Journal Article
MeSH Terms :
Anxiety/*psychology
Depression/*psychology
Genetic Testing/*methods
Hereditary Breast and Ovarian Cancer Syndrome/*psychology
Quality of Life/*psychology
Cross-Sectional Studies ; Female ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Humans ; Middle Aged ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł :
The results of multigene panel sequencing in Slovak HBOC families.
Autorzy :
Konecny M; Laboratory of Genomic Medicine, GHC GENETICS SK, Science Park Comenius University, Bratislava, Slovakia.; Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius, Trnava, Slovakia.
Kosova K; Laboratory of Genomic Medicine, GHC GENETICS SK, Science Park Comenius University, Bratislava, Slovakia.
Tilandyova P; Laboratory of Genomic Medicine, GHC GENETICS SK, Science Park Comenius University, Bratislava, Slovakia.
Wachsmannova L; Laboratory of Genomic Medicine, GHC GENETICS SK, Science Park Comenius University, Bratislava, Slovakia.; Department of Genetics, Cancer Research Institute, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia.
Baldovic M; Laboratory of Genomic Medicine, GHC GENETICS SK, Science Park Comenius University, Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
Krajcovic J; Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius, Trnava, Slovakia.
Patlevicova A; Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius, Trnava, Slovakia.
Markus J; MatTek In Vitro Life Science Laboratories, Bratislava, Slovakia.
Ciernikova S; Department of Genetics, Cancer Research Institute, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia.
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Źródło :
Neoplasma [Neoplasma] 2021 May; Vol. 68 (3), pp. 652-664. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji :
Journal Article
MeSH Terms :
Breast Neoplasms*/genetics
Hereditary Breast and Ovarian Cancer Syndrome*
Ovarian Neoplasms*/genetics
Female ; Genes, BRCA1 ; Genetic Predisposition to Disease ; Humans ; Slovakia
Czasopismo naukowe
Tytuł :
Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.
Autorzy :
Gomes R; Genetics Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.
Spinola PDS; Programa de Pós-Graduação em Genética, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
Brant AC; Genetics Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.
Matta BP; Genetics Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.
Nascimento CM; Programa de Pós-Graduação em Genética, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
de Aquino Paes SM; Genetics Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.; Instituto Federal do Rio de Janeiro (IFRJ), Rio de Janeiro, Brazil.
Bonvicino CR; Genetics Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.
Dos Santos ACE; Genetics Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.
Moreira MAM; Genetics Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil. .
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Źródło :
Breast cancer research and treatment [Breast Cancer Res Treat] 2021 Feb; Vol. 185 (3), pp. 851-861. Date of Electronic Publication: 2020 Oct 30.
Typ publikacji :
Journal Article
MeSH Terms :
Breast Neoplasms*/epidemiology
Breast Neoplasms*/genetics
Hereditary Breast and Ovarian Cancer Syndrome*/epidemiology
Hereditary Breast and Ovarian Cancer Syndrome*/genetics
Ovarian Neoplasms*/epidemiology
Ovarian Neoplasms*/genetics
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Brazil/epidemiology ; Consensus ; Female ; Genetic Predisposition to Disease ; Germ Cells ; Germ-Line Mutation ; Humans ; Prevalence
Czasopismo naukowe
Tytuł :
The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database.
Autorzy :
Okano M; Department of Surgery, Hoshi General Hospital, Fukushima, Japan. .; Department of Breast Surgery, Fukushima Medical University School of Medicine, Fukushima, Japan. .
Nomizu T; Department of Surgery, Hoshi General Hospital, Fukushima, Japan.
Tachibana K; Department of Surgery, Hoshi General Hospital, Fukushima, Japan.; Department of Breast Surgery, Fukushima Medical University School of Medicine, Fukushima, Japan.
Nagatsuka M; Department of Surgery, Hoshi General Hospital, Fukushima, Japan.
Matsuzaki M; Department of Surgery, Hoshi General Hospital, Fukushima, Japan.
Katagata N; Department of Surgery, Hoshi General Hospital, Fukushima, Japan.
Ohtake T; Department of Breast Surgery, Fukushima Medical University School of Medicine, Fukushima, Japan.
Yokoyama S; Breast Center, Showa University, Tokyo, Japan.
Arai M; Diagnostics and Therapeutics of Intractable Diseases, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Nakamura S; Breast Center, Showa University, Tokyo, Japan.
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Źródło :
Journal of human genetics [J Hum Genet] 2021 Mar; Vol. 66 (3), pp. 307-314. Date of Electronic Publication: 2020 Oct 12.
Typ publikacji :
Journal Article
MeSH Terms :
Age of Onset*
Genes, BRCA1*
Genes, BRCA2*
Asian Continental Ancestry Group/*genetics
Breast Neoplasms/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
BRCA1 Protein ; BRCA2 Protein ; Breast Neoplasms/chemistry ; Breast Neoplasms/epidemiology ; Estrogens ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Hereditary Breast and Ovarian Cancer Syndrome/ethnology ; Humans ; Japan/epidemiology ; Neoplasms, Hormone-Dependent/chemistry ; Neoplasms, Hormone-Dependent/epidemiology ; Neoplasms, Hormone-Dependent/genetics ; Prevalence ; Progesterone ; Receptor, ErbB-2/analysis ; Receptors, Estrogen/analysis ; Receptors, Progesterone/analysis ; Triple Negative Breast Neoplasms/epidemiology ; Triple Negative Breast Neoplasms/genetics
Czasopismo naukowe
Tytuł :
A synergetic effect of BARD1 mutations on tumorigenesis.
Autorzy :
Li W; Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.; National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology (Peking University Third Hospital), Beijing, China.
Gu X; Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.; National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology (Peking University Third Hospital), Beijing, China.
Liu C; Center for Quantitative Biology, Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.
Shi Y; Research Center of Clinical Epidemiology, Peking University Third Hospital, Beijing, China.
Wang P; Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.; National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
Zhang N; Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.; National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
Wu R; Department of Pathology, Peking University Third Hospital, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.
Leng L; Key Laboratory of Beijing for Identification and Safety Evaluation of Chinese Medicine, China Academy of Chinese Medical Sciences, Institute of Chinese Materia Medica, Beijing, China.
Xie B; Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.; National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
Song C; Center for Quantitative Biology, Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.; Peking-Tsinghua Center for Life Sciences, Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.
Li M; Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. .; National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China. .; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology (Peking University Third Hospital), Beijing, China. .
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Źródło :
Nature communications [Nat Commun] 2021 Feb 23; Vol. 12 (1), pp. 1243. Date of Electronic Publication: 2021 Feb 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Carcinogenesis/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Mutation/*genetics
Tumor Suppressor Proteins/*genetics
Ubiquitin-Protein Ligases/*genetics
Adult ; Animals ; BRCA1 Protein/genetics ; Cell Line, Tumor ; Cell Nucleus/metabolism ; DNA Damage ; DNA Mutational Analysis ; Female ; Genomic Instability/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans ; Male ; Mice ; Pedigree ; Peptides/metabolism ; Protein Binding ; Tumor Suppressor Proteins/metabolism ; Ubiquitin-Protein Ligases/metabolism ; Xenograft Model Antitumor Assays
Czasopismo naukowe
Tytuł :
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Autorzy :
Rofes P; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.
Del Valle J; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.
Torres-Esquius S; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Medical Oncology Department, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain.
Feliubadaló L; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.
Stradella A; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Medical Oncology Department, Catalan Institute of Oncology, IDIBELL, 08916 Barcelona, Spain.
Moreno-Cabrera JM; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.
López-Doriga A; Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, 08916 Barcelona, Spain.; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), 28029 Madrid, Spain.
Munté E; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.
De Cid R; Genomes for Life-GCAT Lab Group, IGTP, Institut Germans Trias i Pujol (IGTP), 08916 Badalona, Spain.
Campos O; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.
Cuesta R; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.
Teulé Á; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.
Grau È; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.
Sanz J; Genetic Counselling Unit, Medical Oncology Department, Althaia Xarxa Assistencial Universitària de Manresa, 08243 Manresa, Spain.
Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.
Díez O; Catalan Health Institute, Vall d'Hebron Hospital Universitari, 08035 Barcelona, Spain.; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), 08035 Barcelona, Spain.
Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.; Medical Sciences Department, School of Medicine, University of Girona, 17007 Girona, Spain.
Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Medical Oncology Department, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain.
Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IGTP-IDIBGI, 08916 Badalona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, 08916 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain.
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Źródło :
Genes [Genes (Basel)] 2021 Jan 23; Vol. 12 (2). Date of Electronic Publication: 2021 Jan 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Genetic Variation*
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Triple Negative Breast Neoplasms/*epidemiology
Triple Negative Breast Neoplasms/*genetics
Tumor Suppressor Proteins/*genetics
Ubiquitin-Protein Ligases/*genetics
Alleles ; Biomarkers, Tumor ; Cohort Studies ; Female ; Genetic Association Studies ; Genetic Testing ; Genotype ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Humans ; Phenotype ; Population Surveillance ; Spain/epidemiology
Czasopismo naukowe
Tytuł :
Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome.
Autorzy :
Mitamura T; Department of Obstetrics and Gynecology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo.; Division of Clinical Genetics, Hokkaido University Hospital, Sapporo.
Sekine M; Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata.
Arai M; Clinical Genetics, Juntendo University, Graduate School of Medicine, Tokyo.
Shibata Y; Division of Clinical Genetics, Hokkaido University Hospital, Sapporo.
Kato M; Division of Clinical Genetics, Hokkaido University Hospital, Sapporo.
Yokoyama S; Division of Breast Surgical Oncology, Department of Surgery, Showa University School of Medicine, Tokyo.
Yamashita H; Department of Breast Surgery, Hokkaido University Hospital, Sapporo.
Watari H; Department of Obstetrics and Gynecology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo.
Yabe I; Division of Clinical Genetics, Hokkaido University Hospital, Sapporo.
Nomura H; Department of Obstetrics and Gynecology, School of Medicine, Fujita Health University, Toyoake, Aichi, Japan.
Enomoto T; Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata.
Nakamura S; Division of Breast Surgical Oncology, Department of Surgery, Showa University School of Medicine, Tokyo.
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Corporate Authors :
Registration Committee of the Japanese HBOC Consortium
Źródło :
Japanese journal of clinical oncology [Jpn J Clin Oncol] 2020 Dec 16; Vol. 50 (12), pp. 1380-1385.
Typ publikacji :
Journal Article
MeSH Terms :
Fallopian Tube Neoplasms/*pathology
Hereditary Breast and Ovarian Cancer Syndrome/*pathology
Ovarian Neoplasms/*pathology
Peritoneal Neoplasms/*pathology
Adult ; Aged ; Aged, 80 and over ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Fallopian Tube Neoplasms/genetics ; Female ; Genetic Predisposition to Disease ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Humans ; Japan/epidemiology ; Lymphatic Metastasis ; Middle Aged ; Mutation ; Ovarian Neoplasms/genetics ; Penetrance ; Peritoneal Neoplasms/genetics ; Retrospective Studies ; Risk Factors
Czasopismo naukowe
Tytuł :
Molecular Features and Clinical Management of Hereditary Gynecological Cancers.
Autorzy :
Ueki A; Center for Medical Genetics, Keio Cancer Center, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
Hirasawa A; Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Dec 14; Vol. 21 (24). Date of Electronic Publication: 2020 Dec 14.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Breast Neoplasms/*metabolism
Breast Neoplasms/*pathology
Colorectal Neoplasms, Hereditary Nonpolyposis/*metabolism
Colorectal Neoplasms, Hereditary Nonpolyposis/*pathology
Hereditary Breast and Ovarian Cancer Syndrome/*pathology
Breast Neoplasms/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/metabolism ; High-Throughput Nucleotide Sequencing ; Humans
SCR Disease Name :
Breast Cancer, Familial
Czasopismo naukowe
Tytuł :
Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland.
Autorzy :
Stefansdottir V; Department of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland. .
Thorolfsdottir E; Department of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland.
Hognason HB; Department of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland.
Patch C; Florence Nightingale Faculty, Nursing and Midwifery & Palliative Care, King's College London, London, UK.
van El C; Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics and Amsterdam Public Health Research Institute, Amsterdam, the Netherlands.
Hentze S; Praxis für Humangenetik, Mannheim, Germany.
Cordier C; Association suisse des conseillers en génétique, c/o Anne Murphy, 26 rue de la Colline, 1205, Genève, Switzerland.; Département de génétique, SYNLAB, Chemin d'Entre-Bois 21, 1018, Lausanne, Switzerland.
Mendes Á; UnIGENe and CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Jonsson JJ; Department of Genetics and Molecular Medicine, Iceland, Landspitali - the National University Hospital of Iceland, Reykjavik, Iceland.; Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, Reykjavik 101, Reykjavik, Iceland.
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Dec; Vol. 28 (12), pp. 1656-1661. Date of Electronic Publication: 2020 Jun 10.
Typ publikacji :
Journal Article
MeSH Terms :
Disclosure*
BRCA2 Protein/*genetics
Genetic Carrier Screening/*statistics & numerical data
Genetic Counseling/*psychology
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Patients/*psychology
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Emotions ; Female ; Genetic Counseling/methods ; Genetic Counseling/statistics & numerical data ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Hereditary Breast and Ovarian Cancer Syndrome/psychology ; Humans ; Iceland ; Internet ; Male ; Middle Aged ; Patient Satisfaction
Czasopismo naukowe
Tytuł :
A novel BRCA2 splice variant identified in a young woman.
Autorzy :
Nicolussi A; Department of Experimental Medicine, University of Roma 'La Sapienza', Roma, Italy.
Belardinilli F; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Ottini L; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Petroni M; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Capalbo C; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Giannini G; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.; Istituto Pasteur-Fondazione Cenci Bolognetti, Roma, Italy.
Coppa A; Department of Experimental Medicine, University of Roma 'La Sapienza', Roma, Italy.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Dec; Vol. 8 (12), pp. e1513. Date of Electronic Publication: 2020 Nov 07.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Deletion*
RNA Splice Sites*
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Conserved Sequence ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans ; Loss of Heterozygosity
Czasopismo naukowe
Tytuł :
Clinical outcomes of a genomic screening program for actionable genetic conditions.
Autorzy :
Buchanan AH; Genomic Medicine Institute, Geisinger, Danville, PA, USA. .
Lester Kirchner H; Department of Population Health Sciences, Geisinger, Danville, PA, USA.
Schwartz MLB; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Kelly MA; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Schmidlen T; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Jones LK; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Hallquist MLG; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Rocha H; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Betts M; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Schwiter R; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Butry L; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Lazzeri AL; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Frisbie LR; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Rahm AK; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Hao J; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Department of Population Health Sciences, Geisinger, Danville, PA, USA.
Willard HF; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Genome Medical, Durham, NC, USA.
Martin CL; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Ledbetter DH; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Sturm AC; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Nov; Vol. 22 (11), pp. 1874-1882. Date of Electronic Publication: 2020 Jun 30.
Typ publikacji :
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Hereditary Breast and Ovarian Cancer Syndrome*
Hyperlipoproteinemia Type II*/genetics
Early Detection of Cancer ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genomics ; Humans
Czasopismo naukowe
Tytuł :
Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation.
Autorzy :
Pinheiro M; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Peixoto A; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Santos C; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Escudeiro C; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Bizarro S; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Pinto P; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Santos R; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Pinto C; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Guerra J; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Silva J; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal.
Teixeira MR; Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal; Institute of Biomedical Sciences Abel Salazar, University of Porto, Largo Prof. Abel Salazar, Porto 4099-003, Portugal. Electronic address: .
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Źródło :
Cancer genetics [Cancer Genet] 2020 Oct; Vol. 248-249, pp. 18-24. Date of Electronic Publication: 2020 Sep 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Breakpoints*
Gene Duplication*
Germ-Line Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*classification
Hereditary Breast and Ovarian Cancer Syndrome/*pathology
Adult ; Aged ; Exons ; Female ; Follow-Up Studies ; Gene Rearrangement ; Genomics ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Humans ; Male ; Middle Aged ; Pedigree ; Prognosis
Czasopismo naukowe
Tytuł :
Clinicopathological characteristics of gene-positive breast cancer in the United Arab Emirates.
Autorzy :
Altinoz A; ACGME - Accredited General Surgery Residency Program, Tawam Hospital, Abu Dhabi, United Arab Emirates. Electronic address: .
Al Ameri M; Department of Breast Surgery, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates. Electronic address: .
Qureshi W; ACGME - Accredited General Surgery Residency Program, Tawam Hospital, Abu Dhabi, United Arab Emirates. Electronic address: .
Boush N; ACGME - Accredited General Surgery Residency Program, Tawam Hospital, Abu Dhabi, United Arab Emirates. Electronic address: .
Nair SC; Academic Affairs, Tawam Hospital, Abu Dhabi, United Arab Emirates. Electronic address: .
Abdel-Aziz A; Department of Anesthesia, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates. Electronic address: .
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Źródło :
Breast (Edinburgh, Scotland) [Breast] 2020 Oct; Vol. 53, pp. 119-124. Date of Electronic Publication: 2020 Jul 27.
Typ publikacji :
Journal Article
MeSH Terms :
Breast Neoplasms/*genetics
Genetic Predisposition to Disease/*epidemiology
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Arabs/genetics ; Breast Neoplasms/ethnology ; Breast Neoplasms/pathology ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease/ethnology ; Genetic Predisposition to Disease/genetics ; Genetic Testing/statistics & numerical data ; Hereditary Breast and Ovarian Cancer Syndrome/ethnology ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans ; Middle Aged ; Prevalence ; Retrospective Studies ; United Arab Emirates/epidemiology
SCR Disease Name :
Breast Cancer, Familial
Czasopismo naukowe
Tytuł :
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
Autorzy :
van Luttikhuizen JL; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Bublitz J; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Schubert S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Schmidt G; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Hofmann W; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Morlot S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Buurman R; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Schlegelberger B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Steinemann D; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1045. Date of Electronic Publication: 2019 Nov 13.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Duplication*
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Chromosome Breakpoints ; Female ; Genetic Testing ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; High-Throughput Nucleotide Sequencing ; Humans
Czasopismo naukowe
Tytuł :
[In Situ Ductal Carcinoma with Hereditary Breast and Ovarian Cancer Syndrome in a Patient Who Received Contralateral Risk-Reducing Mastectomy-A Case Report].
Autorzy :
Kosaka Y; Dept. of Breast and Endocrine Surgery, Kitasato University School of Medicine.
Kikuchi M
Nishimiya H
Katoh H
Kawaguchi R
Araki N
Shimazu M
Tsumura H
Waraya M
Takada F
Sengoku N
Sangai T
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Źródło :
Gan to kagaku ryoho. Cancer & chemotherapy [Gan To Kagaku Ryoho] 2020 Sep; Vol. 47 (9), pp. 1387-1389.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Breast Neoplasms*/genetics
Breast Neoplasms*/surgery
Carcinoma, Ductal*
Carcinoma, Ductal, Breast*/surgery
Carcinoma, Intraductal, Noninfiltrating*
Hereditary Breast and Ovarian Cancer Syndrome*/genetics
Hereditary Breast and Ovarian Cancer Syndrome*/surgery
Child ; Female ; Humans ; Mastectomy
Czasopismo naukowe
Tytuł :
Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.
Autorzy :
Foglietta J; Medical Oncology Division, S. Maria Hospital, 05100 Terni, Italy.
Ludovini V; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
Bianconi F; Umbria Cancer Registry, University of Perugia, 06129 Perugia, Italy.
Pistola L; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
Reda MS; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
Al-Refaie A; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
Tofanetti FR; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
Mosconi A; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
Minenza E; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
Anastasi P; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
Molica C; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
Stracci F; Department of Experimental Medicine, Public Health Section, University of Perugia, 06129 Perugia, Italy.
Roila F; Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy.
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Źródło :
Genes [Genes (Basel)] 2020 Aug 12; Vol. 11 (8). Date of Electronic Publication: 2020 Aug 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, BRCA1*
Genes, BRCA2*
Germ-Line Mutation*
Hereditary Breast and Ovarian Cancer Syndrome/*epidemiology
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Aged ; Aged, 80 and over ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Humans ; Immunohistochemistry ; Italy/epidemiology ; Male ; Middle Aged ; Mutation Rate ; Pedigree ; Population Surveillance ; Prevalence ; Risk Assessment ; Risk Factors ; Young Adult
Czasopismo naukowe
Tytuł :
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.
Autorzy :
Monteiro AN; Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA .
Bouwman P; Division of Molecular Pathology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Kousholt AN; Division of Molecular Pathology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Eccles DM; Cancer Sciences, University of Southampton Faculty of Medicine, Southampton, UK.
Millot GA; Hub-DBC, Institut Pasteur, USR 3756 CNRS, Paris, France.
Masson JY; CHU de Québec-Université Laval, Oncology Division, Laval University Cancer Research Center, Quebec City, Quebec, Canada.
Schmidt MK; Division of Molecular Pathology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Sharan SK; National Cancer Institute at Frederick, Frederick, Maryland, USA.
Scully R; Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
Wiesmüller L; Ulm University, Ulm, Baden-Württemberg, Germany.
Couch F; Mayo Clinic, Rochester, Minnesota, USA.
Vreeswijk MPG; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands .
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Źródło :
Journal of medical genetics [J Med Genet] 2020 Aug; Vol. 57 (8), pp. 509-518. Date of Electronic Publication: 2020 Mar 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genetic Predisposition to Disease*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Female ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans
Czasopismo naukowe
Tytuł :
Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
Autorzy :
Grzymski JJ; Renown Health, Reno, NV, USA. .; Desert Research Institute, Reno, NV, USA. .
Elhanan G; Desert Research Institute, Reno, NV, USA.
Morales Rosado JA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Smith E; Desert Research Institute, Reno, NV, USA.
Schlauch KA; Desert Research Institute, Reno, NV, USA.
Read R; Desert Research Institute, Reno, NV, USA.
Rowan C; Renown Health, Reno, NV, USA.
Slotnick N; Renown Health, Reno, NV, USA.
Dabe S; Desert Research Institute, Reno, NV, USA.
Metcalf WJ; Desert Research Institute, Reno, NV, USA.
Lipp B; Desert Research Institute, Reno, NV, USA.
Reed H; Desert Research Institute, Reno, NV, USA.
Sharma L; Helix, San Mateo, CA, USA.
Levin E; Helix, San Mateo, CA, USA.
Kao J; Helix, San Mateo, CA, USA.
Rashkin M; Helix, San Mateo, CA, USA.
Bowes J; Helix, San Mateo, CA, USA.
Dunaway K; Helix, San Mateo, CA, USA.
Slonim A; Renown Health, Reno, NV, USA.
Washington N; Helix, San Mateo, CA, USA.
Ferber M; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Bolze A; Helix, San Mateo, CA, USA.
Lu JT; Helix, San Mateo, CA, USA. .
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Źródło :
Nature medicine [Nat Med] 2020 Aug; Vol. 26 (8), pp. 1235-1239. Date of Electronic Publication: 2020 Jul 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Testing*
Genetics, Population*
Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Hyperlipoproteinemia Type II/*genetics
Adolescent ; Adult ; Aged ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; Female ; Genetic Carrier Screening/methods ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Heterozygote ; Humans ; Hyperlipoproteinemia Type II/diagnosis ; Hyperlipoproteinemia Type II/pathology ; Middle Aged
Czasopismo naukowe
Tytuł :
BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.
Autorzy :
Wang J; Department of General Surgery, Shanxi Provincial People's Hospital, Taiyuan, Shanxi, China.
Qin J; Department of Medical Affairs, Annoroad Gene Technology Co. Ltd, Beijing, China.
Xi C; Department of General Surgery, Shanxi Provincial People's Hospital, Taiyuan, Shanxi, China.
Zhang Y; Department of General Surgery, Shanxi Provincial People's Hospital, Taiyuan, Shanxi, China.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1411. Date of Electronic Publication: 2020 Jul 20.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Loss of Function Mutation*
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Prostatic Neoplasms/*genetics
BRCA2 Protein/metabolism ; Codon, Nonsense ; Consanguinity ; Female ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans ; Male ; Pedigree ; Prostatic Neoplasms/pathology
Czasopismo naukowe
Tytuł :
Paraneoplastic dermatomyositis in hereditary breast and ovarian cancer syndrome.
Autorzy :
Kumar N; Surgical Oncology, IRCH, All India Institute of Medical Sciences, New Delhi, India.
Deo S; Surgical Oncology, All India Institute of Medical Sciences, New Delhi, India.
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Źródło :
The breast journal [Breast J] 2020 Sep; Vol. 26 (9), pp. 1836-1837. Date of Electronic Publication: 2020 May 18.
Typ publikacji :
Journal Article
MeSH Terms :
Breast Neoplasms*/genetics
Dermatomyositis*
Hereditary Breast and Ovarian Cancer Syndrome*
Ovarian Neoplasms*/genetics
Female ; Humans
Czasopismo naukowe

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