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

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Molecular Genetics & Genomic Medicine Pub Date : 2024-08-01 DOI:10.1002/mgg3.2504

Cesar Augusto B Duarte, Carlos Alberto Dos Santos, Cristine Domingues D de Oliveira, Cleverton César Spautz, Laura Masami Sumita, Sueli Massumi Nakatani

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引用次数: 0

Abstract

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Conclusion: BRCA2 c.3482dup, a novel candidate pathogenic variant, previously unpublished, is reported.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.

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巴西南部地区遗传性乳腺癌新一代测序面板评估：报告了一种新型 BRCA2 候选致病变体。

背景：在这篇文章中，我们描述了一个经过松散筛选的队列，其中包括有早发乳腺癌病史和/或家族性癌症病史的患者。这项研究的目的是深入了解巴西南部一个微型地区（特别是库里提巴大都会区）人群中存在的乳腺癌相关基因变异。该地区的人口基因高度混杂，反映了巴西人的总体特征：方法：采用三种不同的文库制备方法，对该地区的 12 名患者进行了全面的下一代测序（NGS）多基因面板测试：结果：发现了两个致病变体和一个候选致病变体：BRCA2 c.8878C>T，p.Gln2960Ter；CHEK2 c.1100del，p.Thr367Metfs15；BRCA2 c.3482dup，p.Asp1161Glufs3：BRCA2 c.3482dup是一种新的候选致病变体，以前未曾发表过。这一小型群体中致病变异的发生率与文献中描述的情况相似。所有不同的文库制备方法都能检测到这些变异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.