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Actionable Genotypes and Life Span in Iceland
The New England Journal of Medicine ( IF 158.5 ) Pub Date : 2024-03-07 , DOI: 10.1056/nejmc2314021


To the Editor: Jensson et al. (Nov. 9 issue)1 report the results of a population-based genotyping study involving 57,933 Icelanders, focusing on the analysis of pathogenic variants in 73 genes for which effective medical interventions are available (i.e., actionable genotypes). The most notable finding was the considerably shorter survival among persons who were heterozygous for pathogenic variants in cancer-susceptibility genes. A strikingly inferior outcome was observed in male participants heterozygous for the pathogenic Icelandic p.Asn257LysfsTer17 founder variant in BRCA2, among whom survival was 4.6 years shorter than among noncarriers. This variant was reported in 1996,2 and soon after, it was . . .



中文翻译:

冰岛可行的基因型和寿命

致编辑: Jensson 等人。(11 月 9 日)1报告了一项涉及 57,933 名冰岛人的基于人群的基因分型研究的结果,重点分析了 73 个可采取有效医疗干预措施的基因的致病变异(即可操作的基因型)。最显着的发现是癌症易感基因致病变异杂合的人的生存期要短得多。在BRCA2致病性冰岛 p.Asn257LysfsTer17 创始人变异杂合子的男性参与者中观察到结果明显较差,其中生存期比非携带者短 4.6 年。该变体于 1996 年被报道,2不久之后,它被报道为 . 。。

更新日期:2024-03-07
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