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Tytuł:
Next generation sequencing of BRCA genes in glioblastoma multiform Egyptian patients: a pilot study.
Autorzy:
Nageeb AM; Biochemistry Department, Genetic Engineering and Biotechnology Research Division, National Research Centre, Dokki, Giza, Egypt.; High Throughput Molecular and Genetic Laboratory, Center for Excellences for Advanced Sciences, National Research Centre, Dokki, Giza, Egypt.
Mohamed MM; Biochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt.
Ezz El Arab LR; Clinical Oncology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Khalifa MK; Omicsense, Cairo, Egypt.
Swellam M; Biochemistry Department, Genetic Engineering and Biotechnology Research Division, National Research Centre, Dokki, Giza, Egypt.; High Throughput Molecular and Genetic Laboratory, Center for Excellences for Advanced Sciences, National Research Centre, Dokki, Giza, Egypt.
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Źródło:
Archives of physiology and biochemistry [Arch Physiol Biochem] 2022 Jun; Vol. 128 (3), pp. 809-817. Date of Electronic Publication: 2020 Feb 26.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Glioblastoma*/genetics
Egypt ; Female ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Pilot Projects
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Correlation between the number of false positive variants and the quality of results using Ion Torrent PGM™ sequencing to screen BRCA genes.
Autorzy:
Gouvêa Moreira TC; Hospital do Câncer de Muriaé, Fundação Cristiano Varella, Muriaé, Brazil; Centro Universitário UNIFAMINAS, Muriaé, Brazil. .
Da Silva Spínola P; Divisão de Genética, Instituto Nacional do Câncer, Rio de Janeiro, Brazil; Programa de Pós-Graduação em Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil. .
Campos Rezende M; Hospital do Câncer de Muriaé, Fundação Cristiano Varella, Muriaé, Brazil; Instituto de Ensino e Pesquisa Santa Casa BH, Belo Horizonte, Brazil. .
Moreira de Freitas CS; Hospital do Câncer de Muriaé, Fundação Cristiano Varella, Muriaé, Brazil; Instituto de Ensino e Pesquisa Santa Casa BH, Belo Horizonte, Brazil. .
Borges Mury F; Thermo Fisher Scientific, São Paulo, Brazil. .
Rodrigues Bonvicino C; Divisão de Genética, Instituto Nacional do Câncer, Rio de Janeiro, Brazil; Programa de Pós-Graduação em Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil. .
De Andrade Agostinho L; UNIFAMINASHospital do Câncer de Muriaé, Fundação Cristiano Varella, Muriaé, Brazil; Centro Universitário UNIFAMINAS, Muriaé, Brazil; Programa de Pós-Graduação em Neurologia, Universidade Federal do Estado do Rio de Janeiro Rio de Janeiro, Brazil. .
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Transliterated Title:
Correlación entre el número de variantes de falsos positivos y la calidad de los resultados en la secuenciación con Ion Torrent PGM™ para seleccionar genes BRCA
Źródło:
Biomedica : revista del Instituto Nacional de Salud [Biomedica] 2021 Dec 15; Vol. 41 (4), pp. 773-786. Date of Electronic Publication: 2021 Dec 15.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
High-Throughput Nucleotide Sequencing*
Polymorphism, Single Nucleotide*
False Positive Reactions ; Genetic Testing ; Humans ; Mutation ; Sensitivity and Specificity ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients.
Autorzy:
Liontos M; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Zografos E; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Zoumpourlis P; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Andrikopoulou A; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Svarna A; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Fiste O; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Kunadis E; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Papatheodoridi AM; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Kaparelou M; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Koutsoukos K; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Thomakos N; 1st Department of Obstetrics and Gyencology, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Haidopoulos D; 1st Department of Obstetrics and Gyencology, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Rodolakis A; 1st Department of Obstetrics and Gyencology, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Dimopoulos MA; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Zagouri F; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
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Źródło:
Current oncology (Toronto, Ont.) [Curr Oncol] 2021 Nov 03; Vol. 28 (6), pp. 4446-4456. Date of Electronic Publication: 2021 Nov 03.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/genetics
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Female ; Humans ; Mutation ; Prognosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Preliminary results of targeted sequencing of BRCA1 and BRCA2 in a cohort of breast cancer families: New insight into pathogenic variants in patients and at‑risk relatives.
Autorzy:
Saied MH; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria 21131, Egypt.
Elkaffash D; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria 21131, Egypt.
Fadl R; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria 21131, Egypt.
Haleem RA; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria 21131, Egypt.
Refeat A; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria 21131, Egypt.
Ibrahim I; Department of Pathology, Faculty of Medicine, Alexandria University, Alexandria 21131, Egypt.
Tahoun M; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria 21131, Egypt.
Elkayal A; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria 21131, Egypt.
Tayae E; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria 21131, Egypt.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2021 Sep; Vol. 24 (3). Date of Electronic Publication: 2021 Jul 23.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Breast Neoplasms/*genetics
Adult ; Aged ; Breast Neoplasms/blood ; Breast Neoplasms/epidemiology ; Cohort Studies ; Egypt/epidemiology ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Middle Aged ; Mutation, Missense ; Risk Factors
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso.
Autorzy:
Kiendrebeogo IT; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.; Pietro Annigoni Biomolecular Research Center, Burkina Faso.
Zoure AA; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.; Institute of Health Sciences Research, Department of Biomedical and Public Health, Burkina Faso.
Zongo FI; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.
Ouedraogo SY; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.; Pietro Annigoni Biomolecular Research Center, Burkina Faso.
Sawadogo AY; Service of Gynecology, University Hospital Center Bogodogo, University Joseph KI-ZERBO, UFR/SDS, Burkina Faso.
Amegnona J; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.
Sombie HK; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.; Pietro Annigoni Biomolecular Research Center, Burkina Faso.
Bazie JTVE; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.; Pietro Annigoni Biomolecular Research Center, Burkina Faso.
Sorgho PA; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.; Pietro Annigoni Biomolecular Research Center, Burkina Faso.
Yonli AT; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.; Pietro Annigoni Biomolecular Research Center, Burkina Faso.
Ouedraogo MNL; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.; Faculty of Health Sciences, University Saint Thomas d'Aquin.
Obiri-Yeboah D; Department of Microbiology and Immunology, School of Medical Sciences, University of Cape Coast.
Zongo N; Department of General and Digestive Surgery, University Hospital Center Yalgado Ouedraogo, University Joseph KI-ZERBO, UFR/SDS, Burkina Faso.
Bambara HA; Service of oncology, University Hospital Center Bogodogo, University Joseph KI-ZERBO, UFR/SDS, Burkina Faso.
Simpore J; Laboratory of Molecular Biology and Genetics, UFR/SVT, University Joseph KI-ZERBO, Burkina Faso.; Pietro Annigoni Biomolecular Research Center, Burkina Faso.; Faculty of Health Sciences, University Saint Thomas d'Aquin.
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Źródło:
Ethiopian journal of health sciences [Ethiop J Health Sci] 2022 Jul; Vol. 32 (4), pp. 699-708.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Neoplasms*/genetics
Genes, BRCA2*
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Burkina Faso ; Case-Control Studies ; Early Detection of Cancer ; Female ; Genes, BRCA1 ; Genetic Predisposition to Disease ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).
Autorzy:
El Ansari FZ; Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, 90000, Tangier, Morocco. .; Molecular Biology Department, ANOUAL Laboratory, Casablanca, Morocco. .
Jouali F; Molecular Biology Department, ANOUAL Laboratory, Casablanca, Morocco.
Marchoudi N; Molecular Biology Department, ANOUAL Laboratory, Casablanca, Morocco.
Bennani MM; Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, 90000, Tangier, Morocco.
Ghailani NN; Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, 90000, Tangier, Morocco.
Barakat A; Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, University Abdelmalek Essaâdi, 90000, Tangier, Morocco.
Fekkak J; Molecular Biology Department, ANOUAL Laboratory, Casablanca, Morocco.
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Źródło:
BMC cancer [BMC Cancer] 2020 Aug 10; Vol. 20 (1), pp. 747. Date of Electronic Publication: 2020 Aug 10.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Genes, BRCA1*
Genes, BRCA2*
Mutation*
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Middle Aged ; Morocco ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Implementation and evaluation of a nurse-led decision-coaching program for healthy breast cancer susceptibility gene (BRCA1/2) mutation carriers: a study protocol for the randomized controlled EDCP-BRCA study.
Autorzy:
Isselhard A; Institute of Health Economics and Clinical Epidemiology, University Hospital of Cologne, Cologne, Germany. .
Töpper M; Institute of Health Economics and Clinical Epidemiology, University Hospital of Cologne, Cologne, Germany.
Berger-Höger B; Institute for Health and Nursing Science, Faculty of Medicine, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
Steckelberg A; Institute for Health and Nursing Science, Faculty of Medicine, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
Fischer H; Department of Psychosomatics and Psychotherapy, Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany.
Vitinius F; Department of Psychosomatics and Psychotherapy, Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany.
Beifus K; Center for Health Economics and Health Services Research, Schumpeter School of Business and Economics, University of Wuppertal, Wuppertal, Germany.
Köberlein-Neu J; Center for Health Economics and Health Services Research, Schumpeter School of Business and Economics, University of Wuppertal, Wuppertal, Germany.
Wiedemann R; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Rhiem K; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Schmutzler R; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Stock S; Institute of Health Economics and Clinical Epidemiology, University Hospital of Cologne, Cologne, Germany.
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Źródło:
Trials [Trials] 2020 Jun 08; Vol. 21 (1), pp. 501. Date of Electronic Publication: 2020 Jun 08.
Typ publikacji:
Clinical Trial Protocol; Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Nurse-Patient Relations*
Breast Neoplasms/*nursing
Genetic Counseling/*methods
Breast Neoplasms/genetics ; Breast Neoplasms/prevention & control ; Decision Support Techniques ; Female ; Genetic Predisposition to Disease ; Germany ; Heterozygote ; Humans ; Multicenter Studies as Topic ; Mutation ; Randomized Controlled Trials as Topic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Managing a woman with BRCA mutations? Shared decision-making is key.
Autorzy:
Schrager S; University of Wisconsin Department of Family Medicine and Community Health, Madison, USA. Email: .
Torell E; Indian Health Board, Minneapolis, MN, USA.
Ledford K; Group Health of Wisconsin, Madison, USA.
Elezaby M; University of Wisconsin Department of Radiology, Madison, USA.
Barroleit L; University of Wisconsin Department of Obstetrics and Gynecology, Madison, USA.
Sadowski E; University of Wisconsin Department of Radiology, Madison, USA.
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Źródło:
The Journal of family practice [J Fam Pract] 2020 Jun; Vol. 69 (5), pp. 237-243.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Decision Making, Shared*
Genes, BRCA1*
Genes, BRCA2*
Breast Neoplasms/*prevention & control
Mutation/*genetics
Ovarian Neoplasms/*prevention & control
Adult ; Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Female ; Genetic Testing ; Humans ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Olaparib monotherapy for Asian patients with a germline BRCA mutation and HER2-negative metastatic breast cancer: OlympiAD randomized trial subgroup analysis.
Autorzy:
Im SA; Seoul National University Hospital, Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea. .
Xu B; National Cancer Center/National Clinical Research Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Li W; The First Hospital of Jilin University, Changchun, China.
Robson M; Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Ouyang Q; Medical Oncology Center, Hunan Tumor Hospital, Changsha, China.
Yeh DC; Cheng Ching Hospital, Taichung City, Taiwan.
Iwata H; Department of Breast Oncology, Aichi Cancer Center Hospital, Aichi, Japan.
Park YH; Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Sohn JH; Yonsei University College of Medicine, Seoul, Korea.
Tseng LM; Taipei Veterans General Hospital, National Yang-Ming University, Taipei, Taiwan.
Goessl C; AstraZeneca, Gaithersburg, MD, USA.
Wu W; AstraZeneca, Gaithersburg, MD, USA.
Masuda N; National Hospital Organization, Osaka National Hospital, Osaka, Japan.
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Źródło:
Scientific reports [Sci Rep] 2020 May 29; Vol. 10 (1), pp. 8753. Date of Electronic Publication: 2020 May 29.
Typ publikacji:
Clinical Trial, Phase III; Comparative Study; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Antineoplastic Agents/*therapeutic use
Breast Neoplasms/*drug therapy
Carcinoma/*secondary
Phthalazines/*therapeutic use
Piperazines/*therapeutic use
Poly(ADP-ribose) Polymerase Inhibitors/*therapeutic use
Adult ; Aged ; Asian People ; Breast Neoplasms/genetics ; Capecitabine/therapeutic use ; Carcinoma/drug therapy ; Carcinoma/genetics ; Female ; Furans/therapeutic use ; Gastrointestinal Diseases/chemically induced ; Genes, erbB-2 ; Germ-Line Mutation ; Hematologic Diseases/chemically induced ; Humans ; Kaplan-Meier Estimate ; Ketones/therapeutic use ; Middle Aged ; Phthalazines/adverse effects ; Piperazines/adverse effects ; Progression-Free Survival ; Single-Blind Method ; Vinorelbine/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Autorzy:
Hirotsu Y; Genome Analysis Center, Yamanashi Central Hospital, Kofu 400-8506, Japan.
Schmidt-Edelkraut U; Molecular Health GmbH, Research Department, 69115 Heidelberg, Germany.
Nakagomi H; Department of Breast Surgery, Yamanashi Central Hospital, Kofu 400-8506, Japan.
Sakamoto I; Department of Obstetrics and Gynecology, Yamanashi Central Hospital, Kofu 400-8506, Japan.
Hartenfeller M; Molecular Health GmbH, Research Department, 69115 Heidelberg, Germany.
Narang R; Molecular Health GmbH, Research Department, 69115 Heidelberg, Germany.
Soldatos TG; Molecular Health GmbH, Research Department, 69115 Heidelberg, Germany.
Kaduthanam S; Molecular Health GmbH, Research Department, 69115 Heidelberg, Germany.
Wang X; Molecular Health GmbH, Research Department, 69115 Heidelberg, Germany.
Hettich S; Molecular Health GmbH, Research Department, 69115 Heidelberg, Germany.
Brock S; Molecular Health GmbH, Research Department, 69115 Heidelberg, Germany.
Jackson DB; Molecular Health GmbH, Research Department, 69115 Heidelberg, Germany.
Omata M; Genome Analysis Center, Yamanashi Central Hospital, Kofu 400-8506, Japan.; University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 May 29; Vol. 21 (11). Date of Electronic Publication: 2020 May 29.
Typ publikacji:
Journal Article; Multicenter Study
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Breast Neoplasms/*genetics
Ovarian Neoplasms/*genetics
Poly(ADP-ribose) Polymerase Inhibitors/*pharmacology
Biomarkers, Tumor/genetics ; Breast Neoplasms/blood ; Breast Neoplasms/diagnosis ; Computational Biology ; DNA Repair ; Female ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Germ-Line Mutation ; Germany ; Humans ; Japan ; Male ; Ovarian Neoplasms/blood ; Ovarian Neoplasms/diagnosis ; Prostatic Neoplasms/blood ; Prostatic Neoplasms/genetics ; Reproducibility of Results ; Retrospective Studies
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Combined hormonal contraceptives in BRCA gene mutation carriers: why not?
Autorzy:
Grandi G; Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria Policlinico of Modena, Modena, Italy.
Sammarini M; Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria Policlinico of Modena, Modena, Italy.
Del Savio MC; Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria Policlinico of Modena, Modena, Italy.
Toss A; Department of Surgery, Medical, Dental and Morphological Sciences with Interest in Transplantation, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria Policlinico of Modena, Modena, Italy.
Facchinetti F; Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria Policlinico of Modena, Modena, Italy.
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Źródło:
The European journal of contraception & reproductive health care : the official journal of the European Society of Contraception [Eur J Contracept Reprod Health Care] 2019 Dec; Vol. 24 (6), pp. 417-419. Date of Electronic Publication: 2019 Jul 30.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Heterozygote*
Contraceptive Agents, Hormonal/*therapeutic use
Breast Neoplasms/genetics ; Contraceptive Agents, Hormonal/adverse effects ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Mutation/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.
Autorzy:
Brown A; Wellington Regional Genetics Laboratory, Wellington Hospital, Wellington, New Zealand.
Zamanpoor M; Wellington Regional Genetics Laboratory, Wellington Hospital, Wellington, New Zealand.
Love DR; Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.; Department of Pathology, Sidra Medicine, Doha, Qatar.
Prosser DO; Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.; Department of Pathology, Sidra Medicine, Doha, Qatar.
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Źródło:
Sultan Qaboos University medical journal [Sultan Qaboos Univ Med J] 2019 Nov; Vol. 19 (4), pp. e324-e334. Date of Electronic Publication: 2019 Dec 22.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Genetic Variation*
Practice Guidelines as Topic*
Breast Neoplasms/*genetics
Breast Neoplasms/*pathology
Genetic Testing/*standards
Benchmarking ; Breast Neoplasms/classification ; Female ; Humans ; New Zealand ; Reproducibility of Results ; Sequence Analysis, DNA ; Societies, Medical
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Uptake of genetic counseling among adult children of BRCA1/2 mutation carriers in France.
Autorzy:
Gauna Cristaldo FB; LPS EA 849, Aix-Marseille Université, Aix-en-Provence, France.; Aix-Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, Marseille, France.
Touzani R; Aix-Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, Marseille, France.; UMR1252, Institut Paoli-Calmettes, Marseille, France.
Apostolidis T; LPS EA 849, Aix-Marseille Université, Aix-en-Provence, France.
Mouret-Fourme E; Department of Genetics, Institut Curie, Paris, France.
Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris, France.; INSERM U830, Institut Curie, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Lasset C; Département de Santé Publique, Centre Léon Bérard, Lyon, France.; CNRS UMR 5558, Laboratoire de Biométrie et Biologie Evolutive, Lyon, France.; Université Claude Bernard Lyon 1, Lyon, France.
Fricker JP; Service d'Oncogénétique, prévention, dépistage, CLCC Paul Strauss, Strasboug, France.
Berthet P; Service d'oncologie génétique, Centre François Baclesse, Caen, France.
Julian-Reynier C; Aix-Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, Marseille, France.; UMR1252, Institut Paoli-Calmettes, Marseille, France.
Mancini J; Aix Marseille Univ, APHM, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, HopTimone, BioSTIC, Biostatistique et Technologies de l'Information et de la Communication, Marseille, France.
Noguès C; Aix-Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, Marseille, France.; Département d'Anticipation et de Suivi des Cancers, Oncogénétique clinique, Institut Paoli-Calmettes, Marseille, France.
Bouhnik AD; Aix-Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, Marseille, France.
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Źródło:
Psycho-oncology [Psychooncology] 2019 Sep; Vol. 28 (9), pp. 1894-1900. Date of Electronic Publication: 2019 Jul 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Adult Children/*psychology
Breast Neoplasms/*genetics
Genetic Counseling/*statistics & numerical data
Patient Acceptance of Health Care/*psychology
Adolescent ; Adult ; Adult Children/statistics & numerical data ; Aged ; Female ; France ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation ; Self Report ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history.
Autorzy:
Bisgin A; Faculty of Medicine, Medical Genetics Department of Balcali Clinic and Hospital, Cukurova University, Adana, Turkey.; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.
Boga I; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.; Department of Biotehnology, Institute of Science, Cukurova University, Adana, Turkey.
Yalav O; General Surgey Department of Balcali Clinis and Hospital, Faculty of Medicine, Cukurova Unversity, Adana, Turkey.
Sonmezler O; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.; Department of Biotehnology, Institute of Science, Cukurova University, Adana, Turkey.
Tug Bozdogan S; Faculty of Medicine, Medical Genetics Department of Balcali Clinic and Hospital, Cukurova University, Adana, Turkey.; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.
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Źródło:
The breast journal [Breast J] 2019 Sep; Vol. 25 (5), pp. 1029-1033. Date of Electronic Publication: 2019 Jun 22.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Mutation*
Breast Neoplasms/*genetics
Breast Neoplasms/etiology ; Female ; Genetic Predisposition to Disease ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effectiveness of decision aids for female BRCA1 and BRCA2 mutation carriers: a systematic review.
Autorzy:
Krassuski L; Institute for Health Economics and Clinical Epidemiology, The University Hospital of Cologne (AöR), Gleueler Straße 176-178, 50935, Cologne, Germany. .
Vennedey V; Institute for Health Economics and Clinical Epidemiology, The University Hospital of Cologne (AöR), Gleueler Straße 176-178, 50935, Cologne, Germany.
Stock S; Institute for Health Economics and Clinical Epidemiology, The University Hospital of Cologne (AöR), Gleueler Straße 176-178, 50935, Cologne, Germany.
Kautz-Freimuth S; Institute for Health Economics and Clinical Epidemiology, The University Hospital of Cologne (AöR), Gleueler Straße 176-178, 50935, Cologne, Germany. .
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Źródło:
BMC medical informatics and decision making [BMC Med Inform Decis Mak] 2019 Aug 01; Vol. 19 (1), pp. 154. Date of Electronic Publication: 2019 Aug 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Systematic Review
MeSH Terms:
Decision Support Techniques*
Genes, BRCA1*
Genes, BRCA2*
Genetic Predisposition to Disease*
Mutation*
Breast Neoplasms/*prevention & control
Ovarian Neoplasms/*prevention & control
Adolescent ; Adult ; Aged ; Breast Neoplasms/genetics ; Decision Making ; Female ; Genetic Counseling/methods ; Humans ; Middle Aged ; Ovarian Neoplasms/genetics ; Risk Reduction Behavior ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.
Autorzy:
Zayas-Villanueva OA; Department of Medical Oncology, Hospital Universitario 'José E. González', Monterrey, Mexico.
Campos-Acevedo LD; Department of Genetics, Hospital Universitario 'José E. González', Monterrey, Mexico.
Lugo-Trampe JJ; Department of Genetics, Hospital Universitario 'José E. González', Monterrey, Mexico.
Hernández-Barajas D; Department of Medical Oncology, Hospital Universitario 'José E. González', Monterrey, Mexico.
González-Guerrero JF; Department of Medical Oncology, Hospital Universitario 'José E. González', Monterrey, Mexico.
Noriega-Iriondo MF; Department of Medical Oncology, Hospital Universitario 'José E. González', Monterrey, Mexico.
Ramírez-Sánchez IA; Department of Genetics, Hospital Universitario 'José E. González', Monterrey, Mexico.
Martínez-de-Villarreal LE; Department of Genetics, Hospital Universitario 'José E. González', Monterrey, Mexico. .
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Źródło:
BMC cancer [BMC Cancer] 2019 Jul 22; Vol. 19 (1), pp. 722. Date of Electronic Publication: 2019 Jul 22.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Genetic Testing*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
Adult ; Case-Control Studies ; Exons/genetics ; Female ; Genetic Loci ; Germ-Line Mutation ; High-Throughput Nucleotide Sequencing ; Humans ; Mexico ; Middle Aged ; Mutation Rate
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
Autorzy:
Concolino P; Dipartimento Scienze di Laboratorio e Infettivologiche, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy. .
Gelli G; Ambulatorio Genetica Medica e Citogenetica Clinica, Poliambulatorio Sant'Anna, ASL Roma 1, Via Garigliano 55, 00198 Rome, Italy.
Rizza R; Dipartimento Scienze di Laboratorio e Infettivologiche, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy.
Costella A; Dipartimento Scienze di Laboratorio e Infettivologiche, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy.
Scambia G; Dipartimento Scienze di Laboratorio e Infettivologiche, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy.; Department Woman and Child Health Sciences, Catholic University of the Sacred Heart, 00168 Rome, Italy.
Capoluongo E; Dipartimento Scienze di Laboratorio e Infettivologiche, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy.; Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università Federico II, CEINGE Biotecnologie Avanzate, 80145 Naples, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2019 Jul 12; Vol. 20 (14). Date of Electronic Publication: 2019 Jul 12.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
High-Throughput Nucleotide Sequencing*
Breast Neoplasms/*genetics
Ovarian Neoplasms/*genetics
Adult ; Aged ; Alleles ; Amino Acid Substitution ; Biomarkers, Tumor ; Breast Neoplasms/diagnosis ; Cohort Studies ; Computational Biology/methods ; DNA Copy Number Variations ; DNA Mutational Analysis ; Female ; Genetic Testing ; Genotype ; Germ-Line Mutation ; Humans ; Italy ; Middle Aged ; Ovarian Neoplasms/diagnosis ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
BRCA germline mutation test for all woman with ovarian cancer?
Autorzy:
Paradiso AV; Experimental Oncology - Center for Study of Heredo-Familial Tumors, IRCCS-Istituto Tumori 'Giovanni Paolo II', viale Orazio Flacco, 65, 70124, Bari, Italy. .; Centro Studi Tumori Eredo-Familiari, Istituto Tumori G Paolo II IRCCS National Cancer Research Centre, Via O Flacco, 65, 70124, Bari, Italy. .
Digennaro M; Experimental Oncology - Center for Study of Heredo-Familial Tumors, IRCCS-Istituto Tumori 'Giovanni Paolo II', viale Orazio Flacco, 65, 70124, Bari, Italy.
Patruno M; Experimental Oncology - Center for Study of Heredo-Familial Tumors, IRCCS-Istituto Tumori 'Giovanni Paolo II', viale Orazio Flacco, 65, 70124, Bari, Italy.
De Summa S; Molecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-Istituto Tumori 'Giovanni Paolo II', viale Orazio Flacco, 65, 70124, Bari, Italy.
Tommasi S; Molecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-Istituto Tumori 'Giovanni Paolo II', viale Orazio Flacco, 65, 70124, Bari, Italy.
Berindan-Neagoe I; Department of Functional Genomics and Experimental Pathology, The Oncology Institute 'Prof. Dr. Ion Chiricuta', University of Medicine and Pharmacy Iuliu Hatieganu- Center for Functional Genomics and Center for Advanced Medicine Medfuture, Republicii 34th street; Marinescu 23, Pasteur 4-6, 400015, Cluj-Napoca, Romania.
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Źródło:
BMC cancer [BMC Cancer] 2019 Jun 28; Vol. 19 (1), pp. 641. Date of Electronic Publication: 2019 Jun 28.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Genetic Testing/*statistics & numerical data
Germ-Line Mutation/*genetics
Ovarian Neoplasms/*genetics
Biomarkers, Tumor/genetics ; Databases, Factual ; Female ; Humans ; Ovarian Neoplasms/pathology ; Patient Selection ; Practice Guidelines as Topic ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.
Autorzy:
Cao WM; Department of Medical Oncology, Zhejiang Cancer Hospital, 1 Banshan East Road, Hangzhou, 310022, China.
Zheng YB; Department of Medical Oncology, Zhejiang Cancer Hospital, 1 Banshan East Road, Hangzhou, 310022, China.
Gao Y; Institute of Cancer Research, Zhejiang Cancer Hospital, Hangzhou, 310022, China.
Ding XW; Department of Breast Cancer Surgery, Zhejiang Cancer Hospital, Hangzhou, 310022, China.
Sun Y; Department of Medical Oncology, Zhejiang Cancer Hospital, 1 Banshan East Road, Hangzhou, 310022, China.
Huang Y; Department of Medical Oncology, Zhejiang Cancer Hospital, 1 Banshan East Road, Hangzhou, 310022, China.
Lou CJ; Department of Medical Oncology, Zhejiang Cancer Hospital, 1 Banshan East Road, Hangzhou, 310022, China.
Pan ZW; Department of Clinical Laboratory, Zhejiang Cancer Hospital, Hangzhou, 310022, China.
Peng G; Department of Clinical Cancer Prevention, the University of Texas, MD Anderson Cancer Center, Houston, TX, 77030, USA.
Wang XJ; Department of Medical Oncology, Zhejiang Cancer Hospital, 1 Banshan East Road, Hangzhou, 310022, China. .
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Źródło:
BMC cancer [BMC Cancer] 2019 Jun 07; Vol. 19 (1), pp. 551. Date of Electronic Publication: 2019 Jun 07.
Typ publikacji:
Journal Article
MeSH Terms:
Gene Rearrangement*
Genes, BRCA1*
Genes, BRCA2*
Genetic Predisposition to Disease*
Genomics*/methods
Mutation*
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Alleles ; Amino Acid Substitution ; China ; Female ; Genotype ; Humans ; Pedigree ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer.
Autorzy:
Kim SI; Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.
Lee M; Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea. .
Kim HS; Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.
Chung HH; Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.
Kim JW; Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.
Park NH; Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.
Song YS; Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.
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Źródło:
Journal of ovarian research [J Ovarian Res] 2019 May 07; Vol. 12 (1), pp. 40. Date of Electronic Publication: 2019 May 07.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Germ-Line Mutation*
Cystadenocarcinoma, Serous/*genetics
Ovarian Neoplasms/*genetics
Cystadenocarcinoma, Serous/mortality ; Cystadenocarcinoma, Serous/pathology ; Female ; Humans ; Middle Aged ; Neoplasm Grading ; Neoplasm Staging ; Ovarian Neoplasms/mortality ; Ovarian Neoplasms/pathology ; Survival Analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 285

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