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Academic Journal

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2 -related schwannomatosis.

  • Authors : Smith MJ; Division of Evolution, Infection and Genomics, The University of Manchester, Manchester, UK .; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

Subjects: Neurilemmoma*/Neurilemmoma*/Neurilemmoma*/genetics ; Neurilemmoma*/Neurilemmoma*/Neurilemmoma*/diagnosis ; Neurilemmoma*/Neurilemmoma*/Neurilemmoma*/pathology Schwannomatosis

  • Source: Journal of medical genetics [J Med Genet] 2024 Oct 23; Vol. 61 (11), pp. 1011-1015. Date of Electronic Publication: 2024 Oct 23.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification of New Pathogenic Variants of Hereditary Diffuse Gastric Cancer.

  • Authors : Oh SY; Department of Surgery, Seoul National University College of Medicine, Seoul, Korea.; Department of Critical Care Medicine, Seoul National University Hospital, Seoul, Korea.

Subjects: Stomach Neoplasms*/Stomach Neoplasms*/Stomach Neoplasms*/genetics ; Stomach Neoplasms*/Stomach Neoplasms*/Stomach Neoplasms*/pathology ; Genetic Predisposition to Disease*

  • Source: Cancer research and treatment [Cancer Res Treat] 2024 Oct; Vol. 56 (4), pp. 1126-1135. Date of Electronic Publication: 2024 Apr 11.Publisher: Korean Cancer Association Country of Publication: Korea (South) NLM ID: 101155137 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Analysis of BRCA1 germline variants (exons 5, 11 and 20) in breast cancer families from Libya.

  • Authors : Elmaihub ES; Department of Molecular Biology, Higher Institute of Biotechnology of Monastir, Monastir University, Monastir, Tunisia.; Department of Molecular Biology and Biochemistry, Faculty of Sciences, Sabratha University, Sabratha, Libya.

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/epidemiology ; Germ-Line Mutation*

  • Source: The Libyan journal of medicine [Libyan J Med] 2024 Dec 31; Vol. 19 (1), pp. 2356906. Date of Electronic Publication: 2024 May 24.Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101299403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report.

  • Authors : Vo JN; Michigan Center for Translational Pathology, University of Michigan, Ann Arbor, MI, USA.; Department of Pathology, University of Michigan, Ann Arbor, MI, USA.

Subjects: Medulloblastoma*/Medulloblastoma*/Medulloblastoma*/genetics ; Medulloblastoma*/Medulloblastoma*/Medulloblastoma*/pathology ; Germ-Line Mutation*

  • Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Dec 20; Vol. 12 (1), pp. 195. Date of Electronic Publication: 2024 Dec 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960

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Academic Journal

DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.

  • Authors : Schultz KAP; International Pleuropulmonary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota.; International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, Minnesota.

Subjects: Ribonuclease III*/Ribonuclease III*/Ribonuclease III*/genetics ; DEAD-box RNA Helicases*/DEAD-box RNA Helicases*/DEAD-box RNA Helicases*/genetics ; Genetic Predisposition to Disease* Pleuropulmonary blastoma

  • Source: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2024 Dec 16; Vol. 30 (24), pp. 5681-5692.Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9502500 Publication Model: Print Cited Medium:

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Academic Journal

[Research progress on pathogenic germline mutations in malignant tumors].

  • Authors : Wu F; First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin 300380, China. .; Wang X

Subjects: Germ-Line Mutation* ; Neoplasms*/Neoplasms*/Neoplasms*/genetics; Humans

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Dec 10; Vol. 41 (12), pp. 1508-1515.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.

  • Authors : Sagun JP; Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; Khan SG

Subjects: Xeroderma Pigmentosum Group A Protein*/Xeroderma Pigmentosum Group A Protein*/Xeroderma Pigmentosum Group A Protein*/genetics ; Xeroderma Pigmentosum*/Xeroderma Pigmentosum*/Xeroderma Pigmentosum*/genetics ; Xeroderma Pigmentosum*/Xeroderma Pigmentosum*/Xeroderma Pigmentosum*/complications

  • Source: PLoS genetics [PLoS Genet] 2024 Dec 02; Vol. 20 (12), pp. e1011265. Date of Electronic Publication: 2024 Dec 02 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Diagnostic Challenges due to a Germline Missense MSH2 Variant in a Patient With Immunotherapy-Responsive Locally Advanced Rectal Adenocarcinoma.

  • Authors : Evaristo G; Department of Pathology, The University of Chicago, Chicago, Illinois, USA.; Harmath C

Subjects: MutS Homolog 2 Protein*/MutS Homolog 2 Protein*/MutS Homolog 2 Protein*/genetics ; Adenocarcinoma*/Adenocarcinoma*/Adenocarcinoma*/genetics ; Adenocarcinoma*/Adenocarcinoma*/Adenocarcinoma*/therapy

  • Source: Cancer reports (Hoboken, N.J.) [Cancer Rep (Hoboken)] 2024 Dec; Vol. 7 (12), pp. e70037.Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101747728 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Genetic landscape of Romanian PPGLs.

  • Authors : Lider-Burciulescu SM; 'Ana Aslan', National Institute of Geriatrics and Gerontology, Bucharest, Romania.; 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania.

Subjects: Pheochromocytoma*/Pheochromocytoma*/Pheochromocytoma*/genetics ; Pheochromocytoma*/Pheochromocytoma*/Pheochromocytoma*/pathology ; Paraganglioma*/Paraganglioma*/Paraganglioma*/genetics

  • Source: Journal of cellular and molecular medicine [J Cell Mol Med] 2024 Dec; Vol. 28 (23), pp. e70204.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101083777 Publication Model: Print Cited Medium: Internet ISSN: 1582-4934

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Academic Journal

Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer.

  • Authors : Landry KK; Division of Hematology and Oncology, Department of Medicine, University of Vermont Medical Center, Burlington, VT.; DeSarno MJ

Subjects: Neoplasms*/Neoplasms*/Neoplasms*/genetics ; Neoplasms*/Neoplasms*/Neoplasms*/epidemiology ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: JCO precision oncology [JCO Precis Oncol] 2024 Dec; Vol. 8, pp. e2400553. Date of Electronic Publication: 2024 Dec 12.Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101705370 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  23,466 results for ""Germ-Line Mutation""