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Academic Journal

Is the Homologous Recombination Repair Mutation Defined by a 15-Gene Panel Associated with the Prognosis of Epithelial Ovarian Cancer?

  • Authors : Liu Y; Department of Obstetrics and Gynecology, Core Facility Center, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, Anhui, China.; Chen X

Subjects: Carcinoma, Ovarian Epithelial*/Carcinoma, Ovarian Epithelial*/Carcinoma, Ovarian Epithelial*/genetics ; Carcinoma, Ovarian Epithelial*/Carcinoma, Ovarian Epithelial*/Carcinoma, Ovarian Epithelial*/mortality ; Carcinoma, Ovarian Epithelial*/Carcinoma, Ovarian Epithelial*/Carcinoma, Ovarian Epithelial*/pathology

  • Source: Molecular diagnosis & therapy [Mol Diagn Ther] 2024 Sep; Vol. 28 (5), pp. 621-632. Date of Electronic Publication: 2024 Jul 05.Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 101264260 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.

Subjects: Telangiectasia, Hereditary Hemorrhagic*/Telangiectasia, Hereditary Hemorrhagic*/Telangiectasia, Hereditary Hemorrhagic*/genetics ; Telangiectasia, Hereditary Hemorrhagic*/Telangiectasia, Hereditary Hemorrhagic*/Telangiectasia, Hereditary Hemorrhagic*/pathology ; Arteriovenous Malformations*/Arteriovenous Malformations*/Arteriovenous Malformations*/genetics

  • Source: American journal of human genetics [Am J Hum Genet] 2024 Oct 03; Vol. 111 (10), pp. 2283-2298. Date of Electronic Publication: 2024 Sep 18.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A pilot study to directly estimate radiation-induced mutation in large Japanese field mouse duo sample, mother and offspring, excluding unknown father, using ddRAD sequencing.

  • Authors : Ishiniwa H; Institute of Environmental Radioactivity Fukushima University, 1 Kanayagawa, Fukushima, Fukushima, Japan.; Endoh D

Subjects: Mutation*; Animals ; Pilot Projects

  • Source: Radiation protection dosimetry [Radiat Prot Dosimetry] 2024 Nov 13; Vol. 200 (16-18), pp. 1647-1650.Publisher: Oxford University Press Country of Publication: England NLM ID: 8109958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Differential methylation of circulating free DNA assessed through cfMeDiP as a new tool for breast cancer diagnosis and detection of BRCA1/2 mutation.

  • Authors : Grisolia P; Sylvester Comprehensive Cancer Center and Department of Public Health Sciences, Miller School of Medicine, University of Miami, Miami, FL, USA.; Laboratory of Molecular and Precision Oncology, Biogem, IRGS, Ariano Irpino, Italy.

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/blood ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/diagnosis

  • Source: Journal of translational medicine [J Transl Med] 2024 Oct 15; Vol. 22 (1), pp. 938. Date of Electronic Publication: 2024 Oct 15.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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Academic Journal

Clinical utility of BRCA and ATM mutation status in circulating tumour DNA for treatment selection in advanced pancreatic cancer.

  • Authors : Sudo K; Department of Gastroenterology, Chiba Cancer Center, Chiba, Japan.; Nakamura Y

Subjects: Ataxia Telangiectasia Mutated Proteins*/Ataxia Telangiectasia Mutated Proteins*/Ataxia Telangiectasia Mutated Proteins*/genetics ; Pancreatic Neoplasms*/Pancreatic Neoplasms*/Pancreatic Neoplasms*/genetics ; Pancreatic Neoplasms*/Pancreatic Neoplasms*/Pancreatic Neoplasms*/drug therapy

  • Source: British journal of cancer [Br J Cancer] 2024 Oct; Vol. 131 (7), pp. 1237-1245. Date of Electronic Publication: 2024 Aug 28.Publisher: Nature Publishing Group on behalf of Cancer Research UK Country of Publication: England NLM ID: 0370635 Publication Model: Print-Electronic Cited

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Academic Journal

[Characterization of 19 novel gene mutation sites associated with autosome-dominant polycystic kidney disease].

  • Authors : Yang JL; Southeast University School of Medicine, Nanjing 210009, China Department of Nephrology, Zhong Da Hospital Southeast University, Nanjing 210009, China.; Peng SQ

Subjects: Polycystic Kidney, Autosomal Dominant*/Polycystic Kidney, Autosomal Dominant*/Polycystic Kidney, Autosomal Dominant*/genetics ; Mutation*; Humans

  • Source: Zhonghua nei ke za zhi [Zhonghua Nei Ke Za Zhi] 2024 Sep 01; Vol. 63 (9), pp. 866-873.Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 16210490R Publication Model: Print Cited Medium: Print ISSN: 0578-1426

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Academic Journal

Only FLT3-ITD co-mutation did not have a deleterious effect on acute myeloid leukemia patients with NPM1 mutation, but concomitant with DNMT3A co-mutation or a < 3log reduction of MRD2 predicted poor survival.

  • Authors : Duan W; Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematology Disease, Beijing, China.; Jia J

Subjects: Nucleophosmin* ; DNA Methyltransferase 3A* ; fms-Like Tyrosine Kinase 3*/fms-Like Tyrosine Kinase 3*/fms-Like Tyrosine Kinase 3*/genetics

  • Source: Annals of hematology [Ann Hematol] 2024 Nov; Vol. 103 (11), pp. 4525-4535. Date of Electronic Publication: 2024 Sep 17.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Neurodevelopmental impact of a mutation in the RHOBTB2 gene].

Subjects: Mutation*; Humans ; Animals

  • Source: Revue medicale de Liege [Rev Med Liege] 2024 Jul; Vol. 79 (7-8), pp. 467-470.Publisher: Hopital De Baviere Country of Publication: Belgium NLM ID: 0404317 Publication Model: Print Cited Medium: Print ISSN: 0370-629X

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Academic Journal

Completely non-invasive prediction of IDH mutation status based on preoperative native CT images.

  • Authors : Musigmann M; University Clinic for Radiology, University Münster and University Hospital Münster, Albert- Schweitzer-Campus 1, 48149, Münster, Germany.; Bilgin M

Subjects: Isocitrate Dehydrogenase*/Isocitrate Dehydrogenase*/Isocitrate Dehydrogenase*/genetics ; Mutation* ; Tomography, X-Ray Computed*/Tomography, X-Ray Computed*/Tomography, X-Ray Computed*/methods

  • Source: Scientific reports [Sci Rep] 2024 Nov 05; Vol. 14 (1), pp. 26763. Date of Electronic Publication: 2024 Nov 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

KRAS G12C mutation in NSCLC in a small genetic center: insights into sotorasib therapy response potential.

  • Authors : Eser M; Department of Medical Genetics, Umraniye Education and Research Hospital, University of Health Sciences, Istanbul, Turkey.; Hekimoglu G

Subjects: Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/genetics ; Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/drug therapy ; Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/pathology

  • Source: Scientific reports [Sci Rep] 2024 Nov 04; Vol. 14 (1), pp. 26581. Date of Electronic Publication: 2024 Nov 04.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  5,152,881 results for ""Mutation""