New guidelines for rare cancer syndromes.
作者信息
McNeill Alisdair
机构信息
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
出版信息
Eur J Hum Genet. 2024 Dec;32(12):1517. doi: 10.1038/s41431-024-01735-3.
Abstract
摘要
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本文引用的文献
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Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.在苏格兰奥克尼群岛和设得兰群岛，有两个创始变体占致病 BRCA 等位基因的 90%以上。
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Epigenomic and phenotypic characterization of DEGCAGS syndrome.DEGCAGS 综合征的表观基因组和表型特征。
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ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.ERN GENTURIS 指南：关于错配修复缺陷诊断、遗传咨询、监测、生活质量和临床管理的建议。
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Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.国家层面上对澳大利亚家族性癌症中心进行的审查中，发现了乳腺癌风险变异体的不可识别作用。
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Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.常染色体显性基质型角膜营养不良伴 SPARCL1 错义变异。
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