دورية أكاديمية
أعرض في EDS

Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.

التفاصيل البيبلوغرافية
العنوان: Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.
المؤلفون: Duarte CAB; Research and Development Division, Genoprimer Diagnóstico Molecular, Curitiba, Paraná, Brazil., Dos Santos CA; Molecular Biology Clinical Laboratory, Clinimol Diagnóstico Molecular, São Paulo, São Paulo, Brazil., de Oliveira CDD; Molecular Biology Clinical Laboratory, Clinimol Diagnóstico Molecular, São Paulo, São Paulo, Brazil., Spautz CC; Department of Surgery, Hospital Nossa Senhora das Graças, Curitiba, Paraná, Brazil., Sumita LM; Molecular Biology Clinical Laboratory, Clinimol Diagnóstico Molecular, São Paulo, São Paulo, Brazil., Nakatani SM; Research and Development Division, Genoprimer Diagnóstico Molecular, Curitiba, Paraná, Brazil.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e2504.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print 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: BRCA2 Protein*/genetics , Breast Neoplasms*/genetics , Breast Neoplasms*/pathology , Checkpoint Kinase 2*/genetics , High-Throughput Nucleotide Sequencing*/methods, Humans ; Female ; Brazil ; Middle Aged ; Adult ; Genetic Testing/methods ; Genetic Testing/standards ; Genetic Predisposition to Disease
مستخلص: Background: In this article, we delineate a loosely selected cohort comprising patients with a history of early-onset breast cancer and/or a familial occurrence of cancer. The aim of this study was to gain insights into the presence of breast cancer-related gene variants in a population from a micro-region in southern Brazil, specifically the Metropolitan Region of Curitiba. This area exhibits a highly genetically mixed population, mirroring the general characteristics of the Brazilian people.
Methods: Comprehensive next-generation sequencing (NGS) multigene panel testing was conducted on 12 patients from the region, utilizing three different library preparation methods.
Results: Two pathogenic variants and one candidate pathogenic variant were identified: BRCA2 c.8878C>T, p.Gln2960Ter; CHEK2 c.1100del, p.Thr367Metfs15, and BRCA2 c.3482dup, p.Asp1161Glufs3.
Conclusion: BRCA2 c.3482dup, a novel candidate pathogenic variant, previously unpublished, is reported. The prevalence of pathogenic variants in this small cohort is similar to that described in the literature. All different library preparation methods were equally proficient in enabling the detection of these variants.
(© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
التعليقات: Update of: medRxiv. 2024 Feb 09:2024.02.08.24302195. doi: 10.1101/2024.02.08.24302195. (PMID: 38370791)
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معلومات مُعتمدة: None.
فهرسة مساهمة: Keywords: BRCA2 mutation; hereditary breast cancer; next‐generation sequencing; variant interpretation
المشرفين على المادة: 0 (BRCA2 Protein)
0 (BRCA2 protein, human)
EC 2.7.1.11 (Checkpoint Kinase 2)
EC 2.7.11.1 (CHEK2 protein, human)
SCR Disease Name: Breast Cancer, Familial
تواريخ الأحداث: Date Created: 20240810 Date Completed: 20240810 Latest Revision: 20240813
رمز التحديث: 20240813
مُعرف محوري في PubMed: PMC11316010
DOI: 10.1002/mgg3.2504
PMID: 39126233
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.2504