BRCA2 c.156_157insAlu Founder Variant in Northern Portugal: An Insight Into Hereditary Breast and Ovarian Cancer Genetic Risk and Management.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Sílvia A C Duarte, Regina Arantes, Márcia Martins, Osvaldo Moutinho, Felisbina L Queiroga, Rosário Pinto-Leite
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引用次数: 0

Abstract

The BRCA2 c.156_157insAlu variant is a Portuguese founder mutation implicated in hereditary breast and ovarian cancer (HBOC). This study aims to determine its occurrence and clinical implications in the northern interior region of Portugal. A retrospective study of 571 individuals referred for HBOC genetic counseling and testing between 2021 and 2024 was conducted. Genetic screening was performed using next-generation sequencing of 27 hereditary cancer genes, with confirmatory PCR for BRCA2 c.156_157insAlu. Pathogenic or likely pathogenic variants were detected in 19.8% of participants, with BRCA1/2 variants accounting for 5.4%. The BRCA2 c.156_157insAlu variant was identified in 6 individuals (25% of all BRCA2 pathogenic variants identified), including breast cancer patients and asymptomatic carriers. Clinically, it was associated with early onset and contralateral breast cancer. Cascade testing and genetic counseling were offered to at-risk relatives. The BRCA2 c.156_157insAlu variant remains a significant contributor to HBOC in northern Portugal. Its high local proportion among BRCA2 variants supports the implementation of targeted genetic testing strategies, enhancing early detection and personalized cancer risk management.

葡萄牙北部BRCA2 c.156_157insAlu创始人变异:对遗传性乳腺癌和卵巢癌遗传风险和管理的洞察。
BRCA2 c.156_157insAlu变异是一种葡萄牙创始突变,与遗传性乳腺癌和卵巢癌(HBOC)有关。本研究旨在确定其在葡萄牙北部内陆地区的发生和临床意义。对571名在2021年至2024年间接受HBOC遗传咨询和检测的个体进行了回顾性研究。采用新一代测序对27个遗传性癌症基因进行遗传筛查,并对BRCA2 c.156_157insAlu进行验证性PCR。19.8%的参与者检测到致病或可能致病的变异,其中BRCA1/2变异占5.4%。BRCA2 c.156_157insAlu变异在6个个体中被发现(占所有BRCA2致病变异的25%),包括乳腺癌患者和无症状携带者。临床上,它与早期发病和对侧乳腺癌有关。向有风险的亲属提供级联检测和遗传咨询。BRCA2 c.156_157insAlu变体仍然是葡萄牙北部HBOC的重要贡献者。它在BRCA2变异中的高局部比例支持有针对性的基因检测策略的实施,加强早期发现和个性化的癌症风险管理。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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