Research Center, King Faisal Specialist Hospital and Research Center, Jeddah, Kingdom of Saudi Arabia.
College of Medicine, Al-Faisal University, Riyadh, Kingdom of Saudi Arabia.
Mol Genet Genomic Med. 2019 Sep;7(9):e879. doi: 10.1002/mgg3.879. Epub 2019 Jul 17.
BRCA1/2 pathogenic variants have become associated with familial breast and ovarian cancers, and hereditary cancer-predisposition syndrome. With advances in molecular biology, BRCA profiling facilitates early diagnosis and the implementation of preventive and therapeutic strategies. The genes exhibit variable prevalence among different individuals and moderate interpretation complexity. BRCA deficiency is instrumental in cancer development, affects therapeutic options and is instrumental in drug resistance. In addition, BRCA1/2 profile is diverse across different groups and has been associated with the "founder effect" in certain populations.
In this review, we aim to detail the spectrum of BRCA1/2 variants and their associated risk estimates.
The relationship between BRCA1/2 and hereditary and familial cancers is indisputable, yet BRCA screening methods are beset with limitations and lack clinical confidence.
This review emphasizes the importance of screening BRCA genetics, in addition to their clinical utility. Furthermore, founder variants are anticipated in the Saudi population.
BRCA1/2 致病变体与家族性乳腺癌和卵巢癌以及遗传性癌症易感性综合征相关。随着分子生物学的进步，BRCA 分析有助于早期诊断和实施预防和治疗策略。这些基因在不同个体中的流行率不同，且具有中等的解释复杂性。BRCA 缺陷有助于癌症的发展，影响治疗选择，并有助于耐药性的产生。此外，BRCA1/2 谱在不同群体中存在差异，并与某些人群中的“创始效应”有关。
在这篇综述中，我们旨在详细描述 BRCA1/2 变体及其相关风险估计。
BRCA1/2 与遗传性和家族性癌症之间的关系是不容置疑的，但 BRCA 筛查方法存在局限性且缺乏临床信心。
本综述强调了筛查 BRCA 遗传学的重要性，以及其临床实用性。此外，预计沙特人群中存在创始变体。
