一个案例研究PPM1D和9个其他共同的生殖系变化在一个家庭
Shristi Biswas1, Swati Manekar2, Sonal Rajiv Bakshi1
1Institute of Science, Nirma University, Ahmadabad, Gujarat India.
Asian Pacific journal of cancer prevention : APJCP
|June 28, 2023
概括
一个罕见的PPM1D基因突变在一个有多种癌症史的西印度家庭中被发现. 这一发现可能将PPM1D变化与质瘤,乳腺和卵巢癌风险联系起来.
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:
- 高通量基因型鉴定识别了影响癌症倾向的罕见生殖系变异.
- 家庭癌症病例为遗传癌症风险提供了洞察力.
- 一个西印度家庭有多代不同癌症的历史被研究.
研究的目的:
- 调查印度西部一个家族癌症病例的遗传基础.
- 识别与遗传性癌症相关的潜在生殖系遗传变异.
- 分析PPM1D基因在癌症倾向中的作用.
主要方法:
- 下一代测序-整体外基因组测序 (NGS-WES) 在一个肺癌患者身上进行.
- 使用数据库挖掘验证了结果.
- 使用I-TASSER,RasMol和PyMol进行了蛋白质结构建模.
主要成果:
- NGS-WES在第6个外基因中发现了一种PPM1D c.1654C>T (p.Arg552Ter) 突变,导致蛋白质的切断.
- 由于肺癌数据有限,该突变被归类为具有不确定意义的变异 (VUS).
- 没有受影响的兄弟姐妹缺乏致病变体;共享的变体被归类为良性.
结论:
- 宪法PPM1D遗传变异在不同族群中很罕见.
- PPM1D编码了一种酸酶,它参与了P53瘤抑制路径和DNA损伤反应.
- 在研究家庭中,PPM1D的改变可能与质瘤,乳腺癌和卵巢癌有关.
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