دورية أكاديمية
أعرض في EDS

Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.

التفاصيل البيبلوغرافية
العنوان: Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
المؤلفون: Breen KE; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., Carlo MI; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., Kemel Y; Niehaus Center for Inherited Cancer Genomics, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., Maio A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., Chen YB; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., Zhang L; Department of Pathology and Laboratory Medicine, University of California, Los Angeles, CA, USA., Ceyhan-Birsoy O; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., Mandelker D; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Aug; Vol. 8 (8), pp. e1293. Date of Electronic Publication: 2020 May 28.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
مواضيع طبية MeSH: Fumarate Hydratase/*genetics , Leiomyomatosis/*genetics , Neoplastic Syndromes, Hereditary/*genetics , Skin Neoplasms/*genetics , Uterine Neoplasms/*genetics, Female ; Germ-Line Mutation ; Humans ; Leiomyomatosis/pathology ; Male ; Middle Aged ; Mutation, Missense ; Neoplastic Syndromes, Hereditary/pathology ; Pedigree ; Skin Neoplasms/pathology ; Uterine Neoplasms/pathology
مستخلص: Background: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC), caused by heterozygous germline pathogenic variants in the FH, confers an increased risk for cutaneous and uterine leiomyomas and renal cancer.
Methods: About 13,722 advanced cancer patients, including 560 with renal cell carcinoma, had germline analysis performed in the context of tumor-normal sequencing under an IRB approved protocol.
Results: We report two unrelated individuals with early onset kidney cancer who both carried the c.914C > T (p.Phe305Ser) germline variant in the FH. Both tumors exhibited loss of FH staining by immunohistochemistry and/or positive 2SC staining. Subsequent familial testing discovered that a daughter of a proband who carried the variant had both cutaneous and uterine leiomyomas.
Conclusion: This combination of evidence suggests that the FH c.914C > T (p.Phe305Ser) is pathogenic for HLRCC.
(© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
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معلومات مُعتمدة: P30 CA008748 United States CA NCI NIH HHS
فهرسة مساهمة: Keywords: carcinoma; fumarate hydratase; leiomyomatosis; mutation; renal cell
المشرفين على المادة: EC 4.2.1.2 (Fumarate Hydratase)
SCR Disease Name: Hereditary leiomyomatosis and renal cell cancer
تواريخ الأحداث: Date Created: 20200529 Date Completed: 20210511 Latest Revision: 20210527
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC7434728
DOI: 10.1002/mgg3.1293
PMID: 32463173
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.1293