POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditary cutaneous melanoma.
POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditary cutaneous melanoma.
复制标题
POT1 致病性变异：并非所有端粒通路基因患遗传性皮肤黑色素瘤的风险都相同。
DOI：
10.1111/bjd.17728
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
Toland,AE
中科院分区：
文献类型：
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作者：
Toland,AE
在端粒维持中起重要作用的多个基因，包括POT 1、TERT、ACD和TERF 2 IP，与遗传性皮肤恶性黑色素瘤（CMM）相关。1在本期BJD中，Potrony等人描述了来自228个西班牙遗传性CMM家族的近2%的个体中致病性POT 1种系变异的发现。2这项工作加强了先前描述的端粒生物学重要基因中的致病性变异（PV）与CMM风险之间的联系。CDKN 2A中的PV是家族性黑色素瘤最常见的遗传原因，发生在15-40%有多个CMM个体病史的家族中。1本研究的重点是遗传性CMM家族，其中至少有两个受影响的个体对CDKN 2A PV呈阴性。这里描述的结果与以前的工作一致，包括来自英国，荷兰和澳大利亚的研究，其中在约4%的CMM家族中鉴定出POT 1致病性变体。3文献中报告的CMM家族中POT 1 PV的频率范围从荷兰研究的0%到意大利研究的12.5%。第4、5项
Multiple genes important in telomere maintenance, including POT1, TERT, ACD and TERF2IP, have been associated with hereditary cutaneous malignant melanoma (CMM). 1 In this issue of the BJD, Potrony et al. describe findings of pathogenic POT1 germline variants in nearly 2% of individuals from 228 Spanish hereditary CMM families. 2 This work strengthens previously described connections between pathogenic variants (PVs) in genes important in telomere biology and CMM risk.PVs in CDKN2A are the most common genetic cause of familial melanoma, occurring in 15–40% of families with a history of multiple individuals with CMM. 1 This study focuses on hereditary CMM families with at least two affected individuals who were negative for CDKN2A PVs. The results described here are consistent with previous work including a study from the UK, the Netherlands and Australia in which POT1 pathogenic variants were identified in about 4% of CMM families. 3 The frequency of POT1 PVs in CMM families reported in the literature ranges from 0% in a Dutch study to 12.5% in one Italian study. 4, 5