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Wyszukujesz frazę ""BRCA1 Protein"" wg kryterium: Temat


Tytuł:
Variant of uncertain significance Arg866Cys enhances disorderedness of h-BRCA1 (759-1064) region.
Autorzy:
Mishra N; Advanced Centre for Treatment, Research and Education in Cancer, Kharghar, Navi Mumbai, Maharashtra 410210, India; Homi Bhabha National Institute, Training School Complex, Anushaktinagar, Mumbai, Maharashtra 400094, India.
Dubey S; Advanced Centre for Treatment, Research and Education in Cancer, Kharghar, Navi Mumbai, Maharashtra 410210, India; Homi Bhabha National Institute, Training School Complex, Anushaktinagar, Mumbai, Maharashtra 400094, India.
Kumari A; Advanced Centre for Treatment, Research and Education in Cancer, Kharghar, Navi Mumbai, Maharashtra 410210, India.
Siddiqui MQ; Advanced Centre for Treatment, Research and Education in Cancer, Kharghar, Navi Mumbai, Maharashtra 410210, India.
Kuligina E; Laboratory of Molecular Oncology, Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, RU-197758, Pesochny-2, St.-Petersburg, Russia.
Varma AK; Advanced Centre for Treatment, Research and Education in Cancer, Kharghar, Navi Mumbai, Maharashtra 410210, India; Homi Bhabha National Institute, Training School Complex, Anushaktinagar, Mumbai, Maharashtra 400094, India. Electronic address: .
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Źródło:
The international journal of biochemistry & cell biology [Int J Biochem Cell Biol] 2024 Mar; Vol. 168, pp. 106527. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
BRCA1 Protein*/chemistry
BRCA1 Protein*/metabolism
Mutation, Missense*
DNA ; Molecular Dynamics Simulation ; Mutation ; Humans ; Female
Czasopismo naukowe
Tytuł:
NMR-identification of the interaction between BRCA1 and the intrinsically disordered monomer of the Myc-associated factor X.
Autorzy:
Epasto LM; Faculty of Chemistry, Institute for Biological Chemistry, University of Vienna, Vienna, Austria.; Vienna Doctoral School in Chemistry (DoSChem), University of Vienna, Vienna, Austria.
Pötzl C; Faculty of Chemistry, Institute for Biological Chemistry, University of Vienna, Vienna, Austria.; Vienna Doctoral School in Chemistry (DoSChem), University of Vienna, Vienna, Austria.
Peterlik H; Faculty of Physics, University of Vienna, Vienna, Austria.
Khalil M; CNRS UMR 8516, LASIRE, University of Lille, Villeneuve d'Ascq Cedex, France.
Saint-Pierre C; Universite Grenoble Alpes, Grenoble, France.
Gasparutto D; Universite Grenoble Alpes, Grenoble, France.
Sicoli G; CNRS UMR 8516, LASIRE, University of Lille, Villeneuve d'Ascq Cedex, France.
Kurzbach D; Faculty of Chemistry, Institute for Biological Chemistry, University of Vienna, Vienna, Austria.; Vienna Doctoral School in Chemistry (DoSChem), University of Vienna, Vienna, Austria.
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Źródło:
Protein science : a publication of the Protein Society [Protein Sci] 2024 Jan; Vol. 33 (1), pp. e4849.
Typ publikacji:
Journal Article
MeSH Terms:
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors*/chemistry
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors*/metabolism
BRCA1 Protein*/chemistry
BRCA1 Protein*/metabolism
Humans ; Calorimetry/methods ; Intrinsically Disordered Proteins/chemistry ; Intrinsically Disordered Proteins/metabolism ; Nuclear Magnetic Resonance, Biomolecular ; Proto-Oncogene Proteins c-myc/metabolism
Czasopismo naukowe
Tytuł:
Brca1 Mouse Models: Functional Insights and Therapeutic Opportunities.
Autorzy:
Yueh WT; Nuclear Dynamics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA.
Glass DJ; Nuclear Dynamics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA.
Johnson N; Nuclear Dynamics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA. Electronic address: .
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Źródło:
Journal of molecular biology [J Mol Biol] 2024 Jan 01; Vol. 436 (1), pp. 168372. Date of Electronic Publication: 2023 Nov 17.
Typ publikacji:
Journal Article; Review; Research Support, N.I.H., Extramural
MeSH Terms:
BRCA1 Protein*/genetics
BRCA1 Protein*/metabolism
Neoplasms, Experimental*/drug therapy
Neoplasms, Experimental*/genetics
Animals ; Humans ; Mice ; DNA Repair ; Mutation
Czasopismo naukowe
Tytuł:
Central nervous system metastases in breast cancer patients with germline BRCA pathogenic variants compared to non-carriers: a matched-pair analysis.
Autorzy:
Ben-Zion Berliner M; Breast cancer Unit, Davidoff Cancer Center, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel. .
Yust-Katz S; Neuro-Oncology Unit, Davidoff Cancer Center, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Lavie I; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Goldberg Y; The Raphael Recanati Genetics Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Kedar I; The Raphael Recanati Genetics Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Yerushalmi R; Breast cancer Unit, Davidoff Cancer Center, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
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Źródło:
BMC cancer [BMC Cancer] 2024 Feb 16; Vol. 24 (1), pp. 219. Date of Electronic Publication: 2024 Feb 16.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
BRCA2 Protein*/genetics
Breast Neoplasms*/pathology
Central Nervous System Neoplasms*/genetics
Central Nervous System Neoplasms*/secondary
Female ; Humans ; Central Nervous System ; Germ Cells/pathology ; Germ-Line Mutation ; Matched-Pair Analysis ; Prognosis ; Retrospective Studies
Czasopismo naukowe
Tytuł:
EXO1 protects BRCA1-deficient cells against toxic DNA lesions.
Autorzy:
van de Kooij B; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands; Department of Medical Oncology, University Medical Center Groningen, Groningen 9713 GZ, the Netherlands.
Schreuder A; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands; Oncode Institute, Utrecht 3521 AL, the Netherlands.
Pavani R; Laboratory of Genome Integrity, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Garzero V; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands; Oncode Institute, Utrecht 3521 AL, the Netherlands.
Uruci S; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands.
Wendel TJ; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands; Oncode Institute, Utrecht 3521 AL, the Netherlands.
van Hoeck A; Oncode Institute, Utrecht 3521 AL, the Netherlands; Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht 3584 CG, the Netherlands.
San Martin Alonso M; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands; Oncode Institute, Utrecht 3521 AL, the Netherlands.
Everts M; Department of Medical Oncology, University Medical Center Groningen, Groningen 9713 GZ, the Netherlands.
Koerse D; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands.
Callen E; Laboratory of Genome Integrity, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Boom J; Sequencing Analysis Support Core, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands.
Mei H; Sequencing Analysis Support Core, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands.
Cuppen E; Oncode Institute, Utrecht 3521 AL, the Netherlands; Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht 3584 CG, the Netherlands; Hartwig Medical Foundation, Amsterdam 1098 XH, the Netherlands.
Luijsterburg MS; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands.
van Vugt MATM; Department of Medical Oncology, University Medical Center Groningen, Groningen 9713 GZ, the Netherlands.
Nussenzweig A; Laboratory of Genome Integrity, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
van Attikum H; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands. Electronic address: .
Noordermeer SM; Department of Human Genetics, Leiden University Medical Centre, Leiden 2333 ZC, the Netherlands; Oncode Institute, Utrecht 3521 AL, the Netherlands. Electronic address: .
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Źródło:
Molecular cell [Mol Cell] 2024 Feb 15; Vol. 84 (4), pp. 659-674.e7. Date of Electronic Publication: 2024 Jan 23.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/metabolism
Neoplasms*
Humans ; BRCA2 Protein/genetics ; BRCA2 Protein/metabolism ; DNA Damage ; DNA Repair ; DNA Repair Enzymes/genetics ; DNA Repair Enzymes/metabolism ; Exodeoxyribonucleases/genetics ; Exodeoxyribonucleases/metabolism ; Homologous Recombination
Czasopismo naukowe
Tytuł:
Precision Medicine in Castration-Resistant Prostate Cancer: Advances, Challenges, and the Landscape of PARPi Therapy-A Narrative Review.
Autorzy:
Dimitrov G; Department of Medical Oncology, Medical University of Sofia, University Hospital 'Tsaritsa Yoanna', 1527 Sofia, Bulgaria.
Mangaldzhiev R; Department of Medical Oncology, Medical University of Sofia, University Hospital 'Tsaritsa Yoanna', 1527 Sofia, Bulgaria.
Slavov C; Department of Urology, Medical University of Sofia, University Hospital 'Tsaritsa Yoanna', 1527 Sofia, Bulgaria.
Popov E; Department of Urology, Medical University of Sofia, University Hospital 'Tsaritsa Yoanna', 1527 Sofia, Bulgaria.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 11; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 11.
Typ publikacji:
Journal Article; Review
MeSH Terms:
BRCA1 Protein*/genetics
Prostatic Neoplasms, Castration-Resistant*/drug therapy
Prostatic Neoplasms, Castration-Resistant*/genetics
Prostatic Neoplasms, Castration-Resistant*/pathology
Male ; Female ; Humans ; Poly(ADP-ribose) Polymerase Inhibitors/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use ; Precision Medicine ; BRCA2 Protein/genetics ; Poly(ADP-ribose) Polymerases
Czasopismo naukowe
Tytuł:
Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas.
Autorzy:
Kramer C; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Lanjouw L; Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Ruano D; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Ter Elst A; Department of Pathology and Medical Biology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Santandrea G; Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Solleveld-Westerink N; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
Werner N; Department of Pathology and Medical Biology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van der Hout AH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
de Kroon CD; Department of Gynecology, Leiden University Medical Center, Leiden, The Netherlands.
van Wezel T; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Berger L; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Jalving M; Department of Medical Oncology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Wesseling J; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.; Department of Pathology, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.; Division of Molecular Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Smit V; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
de Bock GH; Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Mourits M; Department of Obstetrics and Gynecology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Vreeswijk M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bart J; Department of Pathology and Medical Biology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Bosse T; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
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Źródło:
The Journal of pathology [J Pathol] 2024 Feb; Vol. 262 (2), pp. 137-146. Date of Electronic Publication: 2023 Oct 18.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Ovarian Neoplasms*/genetics
Ovarian Neoplasms*/pathology
Female ; Humans ; BRCA2 Protein/genetics ; BRCA2 Protein/metabolism ; Tumor Suppressor Protein p53 ; Carcinoma, Ovarian Epithelial/genetics
Czasopismo naukowe
Tytuł:
BRCA 1/2 mutations and risk of uterine cancer: a systematic review and meta-analysis.
Autorzy:
Zakerinasab F; Mashhad University of Medical Sciences, Mashhad, Iran.
Behfar Q; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Parsaee R; Master Student in Molecular Genetics, Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Zadeh RH; Student's Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Foroughi E; School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Amirbeik A; Student Research Committee, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Ahmadi G; Mashhad University of Medical Sciences, Mashhad, Iran. Ghazale_.
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Źródło:
BMC genomic data [BMC Genom Data] 2024 Jan 31; Vol. 25 (1), pp. 13. Date of Electronic Publication: 2024 Jan 31.
Typ publikacji:
Meta-Analysis; Systematic Review; Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Uterine Neoplasms*/epidemiology
Uterine Neoplasms*/genetics
Uterine Neoplasms*/prevention & control
Humans ; Female ; BRCA2 Protein/genetics ; Mutation ; Cross-Sectional Studies
Czasopismo naukowe
Tytuł:
Increased risk of contralateral breast cancer for BRCA1/2 wild-type, high-risk Korean breast cancer patients: a retrospective cohort study.
Autorzy:
Kang E; Department of Surgery, Seoul National University College of Medicine, 103, Daehak-ro, Jongno-gu, Seoul, 03080, Korea.
Jung JJ; Department of Surgery, Seoul National University College of Medicine, 103, Daehak-ro, Jongno-gu, Seoul, 03080, Korea.
Lim C; Department of Surgery, Seoul National University College of Medicine, 103, Daehak-ro, Jongno-gu, Seoul, 03080, Korea.
Kim HK; Department of Surgery, Seoul National University College of Medicine, 103, Daehak-ro, Jongno-gu, Seoul, 03080, Korea.; Genomic Medicine Institute, Seoul National University Medical Research Center, Seoul, Korea.; Cancer Research Institute, Seoul National University, Seoul, Republic of Korea.
Lee HB; Department of Surgery, Seoul National University College of Medicine, 103, Daehak-ro, Jongno-gu, Seoul, 03080, Korea.; Genomic Medicine Institute, Seoul National University Medical Research Center, Seoul, Korea.; Cancer Research Institute, Seoul National University, Seoul, Republic of Korea.
Han W; Department of Surgery, Seoul National University College of Medicine, 103, Daehak-ro, Jongno-gu, Seoul, 03080, Korea.; Genomic Medicine Institute, Seoul National University Medical Research Center, Seoul, Korea.; Cancer Research Institute, Seoul National University, Seoul, Republic of Korea.
Moon HG; Department of Surgery, Seoul National University College of Medicine, 103, Daehak-ro, Jongno-gu, Seoul, 03080, Korea. .; Genomic Medicine Institute, Seoul National University Medical Research Center, Seoul, Korea. .; Cancer Research Institute, Seoul National University, Seoul, Republic of Korea. .
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Źródło:
Breast cancer research : BCR [Breast Cancer Res] 2024 Jan 22; Vol. 26 (1), pp. 14. Date of Electronic Publication: 2024 Jan 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
BRCA1 Protein*/genetics
Breast Neoplasms*/epidemiology
Breast Neoplasms*/genetics
Humans ; Female ; Retrospective Studies ; BRCA2 Protein/genetics ; Republic of Korea/epidemiology
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Tytuł:
A novel targeted NGS panel identifies numerous homologous recombination deficiency (HRD)-associated gene mutations in addition to known BRCA mutations.
Autorzy:
Vogel A; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany.
Haupts A; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany.
Kloth M; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany.
Roth W; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany.
Hartmann N; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany. .
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Źródło:
Diagnostic pathology [Diagn Pathol] 2024 Jan 06; Vol. 19 (1), pp. 9. Date of Electronic Publication: 2024 Jan 06.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
BRCA2 Protein*/genetics
Male ; Humans ; Retrospective Studies ; Mutation ; Homologous Recombination
Czasopismo naukowe
Tytuł:
Signaling Pathway Alterations Driven by BRCA1 and BRCA2 Germline Mutations are Sufficient to Initiate Breast Tumorigenesis by the PIK3CAH1047R Oncogene.
Autorzy:
Bhat-Nakshatri P; Department of Surgery, Indiana University School of Medicine, Indianapolis, Indiana.
Khatpe AS; Department of Surgery, Indiana University School of Medicine, Indianapolis, Indiana.
Chen D; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Batic K; Department of Surgery, Indiana University School of Medicine, Indianapolis, Indiana.
Mang H; Department of Surgery, Indiana University School of Medicine, Indianapolis, Indiana.
Herodotou C; Department of Surgery, Indiana University School of Medicine, Indianapolis, Indiana.
McGuire PC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Xuei X; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Erdogan C; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Gao H; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Liu Y; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Sandusky G; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana.
Storniolo AM; Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana.
Nakshatri H; Department of Surgery, Indiana University School of Medicine, Indianapolis, Indiana.; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana.; VA Roudebush Medical Center, Indianapolis, Indiana.
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Źródło:
Cancer research communications [Cancer Res Commun] 2024 Jan 05; Vol. 4 (1), pp. 38-54.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
BRCA1 Protein*/genetics
Germ-Line Mutation*
Animals ; Mice ; BRCA2 Protein/genetics ; Nuclear Proteins/genetics ; Transcription Factors/genetics ; Proto-Oncogene Proteins c-myc/genetics ; Signal Transduction/genetics ; Oncogenes ; Carcinogenesis/genetics
Czasopismo naukowe
Tytuł:
Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study.
Autorzy:
Weizel I; The IVF Unit, Department of Obstetrics and Gynecology, Hadassah Mount Scopus- Hebrew University Medical Center, Mt Scopus, Jerusalem, 9112001, Israel.
Shavit T; The IVF unit, Assuta Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Ben Gurion University of the Negev, Beer Sheva, Israel.
Shuli Y; The Unit for Medical Genetics, Assuta Medical Center, Tel Aviv, Israel.
Adler Lazarovich C; The IVF Unit, Department of Obstetrics and Gynecology, Hadassah Mount Scopus- Hebrew University Medical Center, Mt Scopus, Jerusalem, 9112001, Israel.
Halevi R; The Unit for Medical Genetics, Assuta Medical Center, Tel Aviv, Israel.
Ben Ari T; The IVF unit, Assuta Medical Center, Tel Aviv, Israel.
Yaacobi-Artzi S; The IVF unit, Assuta Medical Center, Tel Aviv, Israel.
Bentov Y; The IVF Unit, Department of Obstetrics and Gynecology, Hadassah Mount Scopus- Hebrew University Medical Center, Mt Scopus, Jerusalem, 9112001, Israel.; Department of Obstetrics and Gynecology, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Feldman B; The Unit for Medical Genetics, Assuta Medical Center, Tel Aviv, Israel.
Hershko Klement A; The IVF Unit, Department of Obstetrics and Gynecology, Hadassah Mount Scopus- Hebrew University Medical Center, Mt Scopus, Jerusalem, 9112001, Israel. .; Department of Obstetrics and Gynecology, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. .
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Źródło:
Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2024 Jan 03; Vol. 22 (1), pp. 8. Date of Electronic Publication: 2024 Jan 03.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Preimplantation Diagnosis*/methods
Pregnancy ; Humans ; Male ; Female ; Cohort Studies ; Retrospective Studies ; BRCA2 Protein/genetics ; Genetic Testing/methods ; Fertilization in Vitro/methods ; Mutation ; Aneuploidy ; Parents
Czasopismo naukowe
Tytuł:
Recent trends in hereditary breast cancer incidence by race and age in KwaZulu-Natal, South Africa: An 11-year single-centre retrospective study (2011-2021).
Autorzy:
Makhetha M; Department of Clinical Medicine, Nelson R Mandela School of Medicine, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.
Chabilal N; Department of Genetics, Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.
Aldous C; Department of Clinical Medicine, Nelson R Mandela School of Medicine, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.
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Źródło:
International journal of cancer [Int J Cancer] 2024 Jan 01; Vol. 154 (1), pp. 65-70. Date of Electronic Publication: 2023 Aug 14.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Triple Negative Breast Neoplasms*
Humans ; Female ; Middle Aged ; South Africa/epidemiology ; Retrospective Studies ; Incidence ; BRCA2 Protein ; Neoplasm Recurrence, Local
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Tytuł:
BRCA1/2 mutations and de novo hematologic malignancies: true, true and not clearly related.
Autorzy:
Shah PD; Division of Hematology and Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia PA 19104; Basser Center for BRCA, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia PA 19104.
Nathanson KL; Basser Center for BRCA, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia PA 19104; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia PA 19104. .
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Źródło:
Haematologica [Haematologica] 2024 Jan 01; Vol. 109 (1), pp. 21-22. Date of Electronic Publication: 2024 Jan 01.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Hematologic Neoplasms*/diagnosis
Hematologic Neoplasms*/genetics
Humans ; BRCA2 Protein/genetics ; Mutation
Czasopismo naukowe
Tytuł:
Germline loss-of-function BRCA1 and BRCA2 mutations and risk of de novo hematopoietic malignancies.
Autorzy:
Stubbins RJ; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, 60637, USA; Division of Hematology, Department of Medicine, University of British Columbia, Vancouver, BC, V5N 5K9, Canada; Leukemia/BMT Program of BC, BC Cancer, Vancouver, BC, V5N 5K9.
Asom AS; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, 60637.
Wang P; Department of Pathology, The University of Chicago, Chicago, IL, 60637.
Lager AM; Department of Pathology, The University of Chicago, Chicago, IL, 60637.
Gary A; Department of Pathology, The University of Chicago, Chicago, IL, 60637.
Godley LA; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, 60637, USA; Department of Human Genetics, The University of Chicago, Chicago, IL, 60637. .
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Źródło:
Haematologica [Haematologica] 2024 Jan 01; Vol. 109 (1), pp. 351-356. Date of Electronic Publication: 2024 Jan 01.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Humans ; BRCA2 Protein/genetics ; Germ Cells/pathology ; Germ-Line Mutation ; Mutation
Czasopismo naukowe
Tytuł:
BRCA1/2 Haploinsufficiency: Exploring the Impact of Losing one Allele.
Autorzy:
Minello A; Institut Curie, PSL Research University, CNRS, UMR3348, F-91405 Orsay, France; Paris-Saclay University CNRS, UMR3348, F-91405 Orsay, France.
Carreira A; Institut Curie, PSL Research University, CNRS, UMR3348, F-91405 Orsay, France; Paris-Saclay University CNRS, UMR3348, F-91405 Orsay, France; Genome Instability and Cancer Predisposition Lab, Department of Genome Dynamics and Function, Centro de Biologia Molecular Severo Ochoa (CBMSO, CSIC-UAM), Madrid 28049, Spain. Electronic address: .
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Źródło:
Journal of molecular biology [J Mol Biol] 2024 Jan 01; Vol. 436 (1), pp. 168277. Date of Electronic Publication: 2023 Sep 14.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
BRCA1 Protein*/genetics
BRCA2 Protein*/genetics
Breast Neoplasms*/genetics
Haploinsufficiency*/genetics
Female ; Humans ; Alleles ; Animals ; Mice ; Male
Czasopismo naukowe
Tytuł:
Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival.
Autorzy:
Kahn RM; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Selenica P; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Boerner T; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Roche KL; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.
Xiao Y; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Sia TY; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Maio A; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Kemel Y; Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Sheehan M; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Salo-Mullen E; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Breen KE; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Zhou Q; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Iasonos A; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Grisham RN; Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
O'Cearbhaill RE; Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
Chi DS; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.
Berger MF; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Kundra R; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Schultz N; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Ellenson LH; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Stadler ZK; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
Offit K; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
Mandelker D; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Aghajanian C; Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
Zamarin D; Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
Sabbatini P; Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA.
Weigelt B; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Liu YL; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Medicine, Weill Cornell Medical College, New York, NY, USA. Electronic address: .
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Źródło:
Gynecologic oncology [Gynecol Oncol] 2024 Jan; Vol. 180, pp. 35-43. Date of Electronic Publication: 2023 Dec 01.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Ovarian Neoplasms*/pathology
Humans ; Female ; BRCA2 Protein/genetics ; Germ-Line Mutation ; Homologous Recombination ; Phenotype ; Germ Cells/pathology ; Genetic Predisposition to Disease
Czasopismo naukowe
Tytuł:
Repression of LSD1 potentiates homologous recombination-proficient ovarian cancer to PARP inhibitors through down-regulation of BRCA1/2 and RAD51.
Autorzy:
Tao L; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Zhou Y; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Pan X; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Luo Y; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Qiu J; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.; National Chengdu Center for Safety Evaluation of Drugs, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Zhou X; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Chen Z; State Key Laboratory of Natural and Biomimetic Drugs, School of Pharmaceutical Sciences, Peking University, 100191, Beijing, China.
Li Y; Department of Pharmacology, Shanxi Medical University, 030001, Taiyuan, China.
Xu L; Department of Pathology, Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, West China Second University Hospital, Sichuan University, 610041, Chengdu, China.
Zhou Y; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Zuo Z; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.; Laboratory of Anesthesiology & Critical Care Medicine, Department of Anesthesiology, West China Hospital, Sichuan University, 610041, Chengdu, China.
Liu C; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Wang L; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Liu X; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Tian X; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Su N; Department of Pharmacology, Key Laboratory of Drug Targeting and Drug Delivery System of the Education Ministry, Sichuan Engineering Laboratory for Plant-Sourced Drug and Sichuan Research Center for Drug Precision Industrial Technology, West China School of Pharmacy, Sichuan University, 610041, Chengdu, China.; Department of Pharmacy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Yang Z; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Zhang Y; School of Medicine, Tibet University, 850000, Lhasa, China.
Gou K; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Sang N; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Liu H; National Chengdu Center for Safety Evaluation of Drugs, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.; Department of Pharmacology, Key Laboratory of Drug Targeting and Drug Delivery System of the Education Ministry, Sichuan Engineering Laboratory for Plant-Sourced Drug and Sichuan Research Center for Drug Precision Industrial Technology, West China School of Pharmacy, Sichuan University, 610041, Chengdu, China.
Zou J; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Xiao Y; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Zhong X; Department of Pharmacology, Key Laboratory of Drug Targeting and Drug Delivery System of the Education Ministry, Sichuan Engineering Laboratory for Plant-Sourced Drug and Sichuan Research Center for Drug Precision Industrial Technology, West China School of Pharmacy, Sichuan University, 610041, Chengdu, China.
Xu J; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Yang X; Department of Pharmacology, Key Laboratory of Drug Targeting and Drug Delivery System of the Education Ministry, Sichuan Engineering Laboratory for Plant-Sourced Drug and Sichuan Research Center for Drug Precision Industrial Technology, West China School of Pharmacy, Sichuan University, 610041, Chengdu, China.
Xiao K; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Liu Y; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Yang S; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Peng Y; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Han J; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Cen X; National Chengdu Center for Safety Evaluation of Drugs, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
Zhao Y; Department of Biotherapy, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China. .
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Źródło:
Nature communications [Nat Commun] 2023 Nov 16; Vol. 14 (1), pp. 7430. Date of Electronic Publication: 2023 Nov 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
BRCA1 Protein*/genetics
BRCA1 Protein*/metabolism
Ovarian Neoplasms*/drug therapy
Ovarian Neoplasms*/genetics
Ovarian Neoplasms*/pathology
Humans ; Female ; Poly(ADP-ribose) Polymerase Inhibitors/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use ; Down-Regulation ; DNA Repair ; BRCA2 Protein/genetics ; BRCA2 Protein/metabolism ; Homologous Recombination ; Histone Demethylases/genetics ; Histone Demethylases/metabolism ; Rad51 Recombinase/genetics ; Rad51 Recombinase/metabolism
Czasopismo naukowe
Tytuł:
BRCA1-BARD1 combines multiple chromatin recognition modules to bridge nascent nucleosomes.
Autorzy:
Burdett H; Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Kings Buildings, Mayfield Road, Edinburgh EH9 3JR, UK.
Foglizzo M; Astbury Centre for Structural Molecular Biology, School of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK.
Musgrove LJ; Astbury Centre for Structural Molecular Biology, School of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK.
Kumar D; Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Kings Buildings, Mayfield Road, Edinburgh EH9 3JR, UK.
Clifford G; Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Kings Buildings, Mayfield Road, Edinburgh EH9 3JR, UK.
Campbell LJ; Astbury Centre for Structural Molecular Biology, School of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK.
Heath GR; Astbury Centre for Structural Molecular Biology, School of Physics & Astronomy and Biomedical Sciences, Faculty of Engineering & Physical Sciences and Biological Sciences, University of Leeds, Leeds LS2 9JT, UK.
Zeqiraj E; Astbury Centre for Structural Molecular Biology, School of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK.
Wilson MD; Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Kings Buildings, Mayfield Road, Edinburgh EH9 3JR, UK.
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Źródło:
Nucleic acids research [Nucleic Acids Res] 2023 Nov 10; Vol. 51 (20), pp. 11080-11103.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
BRCA1 Protein*/chemistry
BRCA1 Protein*/metabolism
Chromatin*/chemistry
Chromatin*/metabolism
Nucleosomes*
Ubiquitin-Protein Ligases*/chemistry
Ubiquitin-Protein Ligases*/metabolism
Humans ; HeLa Cells ; Histones/metabolism ; Tumor Suppressor Proteins/genetics
Czasopismo naukowe
Tytuł:
Exploiting Synthetic Lethality between Germline BRCA1 Haploinsufficiency and PARP Inhibition in JAK2V617F-Positive Myeloproliferative Neoplasms.
Autorzy:
Bermes M; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Rodriguez MJ; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
de Toledo MAS; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Ernst S; Confocal Microscopy Facility, Interdisciplinary Center for Clinical Research IZKF, RWTH Aachen University, 52074 Aachen, Germany.
Müller-Newen G; Department of Biochemistry, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.
Brümmendorf TH; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Chatain N; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Koschmieder S; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Baumeister J; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 16; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 16.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Myeloproliferative Disorders*/drug therapy
Myeloproliferative Disorders*/genetics
Neoplasms*/drug therapy
Humans ; DNA ; Germ Cells ; Haploinsufficiency ; Interferon-alpha/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use ; Recombinational DNA Repair ; Synthetic Lethal Mutations
Czasopismo naukowe

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