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在高风险的巴西患者中描述潜在的黑色素瘤倾向基因

Bianca Costa Soares de Sá¹, Luciana Facure Moredo¹, Giovana Tardin Torrezan^2,3

¹Skin Cancer Department, A.C. Camargo Cancer Center, São Paulo 01529-001, Brazil.

International journal of molecular sciences

|November 14, 2023

概括

对巴西黑色素瘤家族的基因分析显示,高透性基因变异的发病率低,但MC1R变异的发病率高. 这突出了MC1RR的特点.

科学领域:

遗传学是一个遗传学.
皮肤病学皮肤病学
在瘤学瘤学.

背景情况:

高透基因 (例如CDKN2A) 和低至中度透基因 (例如MC1R,MITF) 的生殖线致病变体增加了黑色素瘤的风险.
像ACD,TERF2IP和TERT这样的新兴基因也可能导致黑色素瘤易感性.

研究的目的:

在巴西患者中识别黑色素瘤风险基因的生殖系变异,满足家族黑色素瘤综合征的标准.
评估高和低至中度透基因对这一队列中黑色素瘤风险的贡献.

主要方法:

一组由36名巴西患有家族黑色素瘤综合征的患者组成的队列,根据个人或家族多发黑色素瘤或黑色素瘤和胰腺癌病史进行了选择.
基因测试使用9个基因小组进行,包括ACD,BAP1,CDK4,CDKN2A,POT1,TERT,TERF2IP,MC1R和MITF.

主要成果:

在5.6%的患者中发现了高透基因 (CDKN2A,BAP1) 的生殖系病原体变异,其中11.1%具有不确定的意义的变异.
与对照组相比,MC1R变异的流行率很高 (86.5%),红发颜色和未知的风险变异显著增加.
该研究观察到高透基因中致病变异的频率低,MC1R变异的流行率高.

结论:

这些发现强调了MC1R基因型在巴西易患黑色素瘤的家庭中决定黑色素瘤风险的重要作用.
已知高透基因中致病变体的低检测率表明,其他遗传因素,包括MC1R,在这个人群中至关重要.

关键词:

这是家族性黑色素瘤.生殖系病原性变体的生殖系病原性变体黑色素瘤的倾向性倾向性黑色素瘤的易感性多重原发性瘤多种主要瘤.

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