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外体序列测序发现了罕见的复发拷贝数变异和遗传性乳腺癌易感性

Timo A Kumpula¹, Sandra Vorimo¹, Taneli T Mattila²

¹Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland.

|August 14, 2023

概括

在RAD52和HSD17B14中复制数变异 (CNV) 与芬兰人口遗传性乳腺癌易感性有关. 这些发现强调了分析CNV对于识别遗传性疾病遗传因素的重要性.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
分子生物学分子生物学

背景情况:

副本数变异 (CNV) 是影响基因剂量和功能的显著遗传变异.
CNVs与各种疾病有关,但它们在遗传性乳腺癌易感性中的作用需要进一步研究.
以前的研究还没有彻底探讨CNVs对遗传性乳腺癌风险的贡献.

研究的目的:

研究罕见副本数变异 (CNVs) 在遗传性乳腺癌易感性中的作用.
确定与北芬兰队列遗传性乳腺癌风险增加相关的特定CNV.
评估乳腺癌病例和对照中确定的CNV的频率和重要性.

主要方法:

整体外体测序用于分析98例高风险的芬兰北部乳腺癌病例中的罕见神经核细胞.
候选CNVs使用直角方法进行验证,包括PCR,光学基因组映射和长读测序.
鉴定变异的基因定型在一个更大的遗传性乳腺癌病例队列,未选择的乳腺癌病例和对照中进行.

主要成果:

确定了三种复发的CNV:RAD52中的一个删除插入 (delins),HSD17B14中的一个删除,RAD51C中的一个部分重复.
与对照组 (0.9%) 相比,在遗传性乳腺癌易感性 (2.5%和2.9%) 的病例中,RAD52分离和HSD17B14删除显著丰富.
RAD51C重复是罕见的,与遗传性乳腺癌风险没有显著关联.

结论:

该研究表明,RAD52和HSD17B14中的特定CNV有助于遗传性乳腺癌易感性.
芬兰人口中RAD52和HSD17B14变异的相对高频率凸显了它们在这个人口群体中的重要性.
分析单核酸变异与单核酸变异一起的CNV对于全面了解遗传性疾病倾向的遗传因素至关重要.

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