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在BARD1中对基因变异的表征在接受遗传瘤生殖系检测的受试者中

Elena Marino¹, Elena Belloni², Matteo Dal Molin¹

¹Laboratory of Medical Genetics, Cytogenetics and Molecular Genetics, IEO, European Institute of Oncology, IRCCS, 20141 Milan, Italy.

|November 27, 2025

概括

与遗传性乳腺癌和卵巢癌 (HBOC) 风险相关的BARD1 c.1518_1519delinsCA变种在17.28%的患者中被发现. 它的高频率挑战了参考基因组数据,并强调了在遗传测试中需要准确的变异注释的需要.

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:

遗传性乳腺和卵巢癌 (HBOC) 综合征主要与BRCA1和BRCA2突变有关.
像BARD1这样的低透基因越来越多地被认为是导致癌症倾向的因素.
作为一种潜在的风险因素,BARD1变种c.1518_1519delinsCA (p.Val507Met) 已被提出.

研究的目的:

确定BARD1 c.1518_1519delinsCA变种在接受基因测试的队列中的频率和分布.
分析与参考基因组预期相关的BARD1变异的等位基因频率.
评估BARD1复杂变异在遗传性癌症倾向中的临床相关性.

主要方法:

使用28基因小组对920名患者进行了下一代测序 (NGS).
分析了BARD1基因的等位基因频率,特别是c.1518_1519delinsCA变体.
观察到的频率与ALFA数据库中的人口数据进行了比较.

主要成果:

在920名患者中,BARD1 c.1518_1519delinsCA变种在159名患者 (17.28%) 中被发现.
在c.1518T>C和c.1519G>A之间观察到强烈的联系,其中联合二核酸替代是普遍存在的.
观察到的等位基因频率 (34.51%的A在c.1519,77.88%的C在c.1518) 偏离参考基因组预期,并与人口数据保持一致.
这些发现表明,在c.1518的参考等位基因可能不代表真正的野生类型序列.

结论:

BARD1 c.1518_1519delinsCA变种的高频率和联系需要进一步调查其临床意义.
准确的变异注释和特定人群的频率数据对于解释NGS结果至关重要.
虽然BARD1是HBOC的低频贡献者,但其复杂变体可能与纳入多基因面板有关.

关键词:

在BARD1中,BARD1是第1位.在 HBOC HBOC HBOC 没有NGS,没有NGS.

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