Location matters: topography of germline CEBPA variants predicts variable outcomes in familial acute myeloid leukaemia-a rare disease perspective [0.03%]
CEBPA变异的地形预测家族急性髓系白血病的不同结局——一种罕见疾病的视角
Jinjun Yang,Xiaoqian Duan,Min Zhu et al.
Jinjun Yang et al.
Background: Familial acute myeloid leukaemia (AML) with germline CEBPA (CCAAT/enhancer-binding protein alpha) variants is a distinct hereditary entity, yet clinically meaningful genotype-phenotype correlations remain inco...
Decreasing diffuse gastric cancer risk in individuals with germline CDH1 pathogenic variants. What about prophylactic total gastrectomy? [0.03%]
CDH1基因病灶性突变降低胃癌发病风险的个体中进行预防性全胃切除术吗？
Giovanni Corso,Carlo La Vecchia
Giovanni Corso
Biallelic pathogenic variants in FLNB are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction [0.03%]
FLNB 基因双等位基因致病变异通过足细胞细胞骨架功能障碍与儿童激素抵抗性肾病综合征相关
Yueheng Gan,Xueying Yang,Han Chan et al.
Yueheng Gan et al.
Background: Steroid-resistant nephrotic syndrome (SRNS) is a severe paediatric kidney disease and a leading cause of end-stage kidney disease in children, with a high genetic contribution. While over 80 monogenic causes o...
Identification of Lynch syndrome among people newly diagnosed with endometrial cancer: a prospective audit [0.03%]
子宫内膜癌新诊断林奇综合征的识别：前瞻性审计
Jean-Ellen Johnson,Sarah Milliken,James Bolton et al.
Jean-Ellen Johnson et al.
Background: Since 2020, the UK National Institute for Health and Care Excellence (NICE) recommends screening for Lynch syndrome in all people newly diagnosed with endometrial cancer. Screening involves tumour testing for ...
Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes [0.03%]
NF1嵌合体的鉴定：光学基因组测绘在黑色素细胞中识别新的t（15;17）易位
Joséphine Blancke,Suzanne Vanhauwaert,Stijn Van de Sompele et al.
Joséphine Blancke et al.
Mosaic neurofibromatosis type 1 (NF1) poses a significant diagnostic challenge due to low-level mosaicism and the confinement of pathogenic variants to neuroectodermal lineages, frequently resulting in false-negative findings when testing i...
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages [0.03%]
ENIGMA更新了关于报告癌症易感基因种系变异的建议，并将其翻译成20种语言
Arcangela De Nicolo,Diana M Eccles,Kirsimari Aaltonen et al.
Arcangela De Nicolo et al.
Genetic testing for cancer susceptibility underpins precision cancer prevention and care. Gaps in the healthcare providers' genetic literacy and an ambiguous lexicon for variant description may hinder proper delivery and clinical applicatio...
Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction [0.03%]
DNAH10双等位基因变异与骨骼发育异常和纤毛功能障碍相关性研究
Rui Zheng,Xinrong Du,Jierui Yan et al.
Rui Zheng et al.
Background: Primary cilia are essential for skeletal development by coordinating key signalling pathways in osteoblasts and chondrocytes. While pathogenic variants in approximately 40 genes have been linked to skeletal ci...
Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection [0.03%]
子宫浆液性癌和遗传咨询检测：推荐模式、完成情况及致病基因变异检测结果
Lauren Tostrud,Simge Bagci Turkmen,Jiaqi Zhang et al.
Lauren Tostrud et al.
Background: Current guidelines recommend consideration of germline genetic testing for patients with uterine serous carcinoma (USC) but real-world data are limited on completion rates of testing and pathogenic variant (PV...
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service [0.03%]
英国国家卫生服务机构(NHS)用于罕见病和癌症诊断的高通量测序生物信息学方法的最佳实践建议
Jamie M Ellingford,Erik Waskiewicz,Ashley J Pritchard et al.
Jamie M Ellingford et al.
Background: Establishing best practice recommendations helps to increase consistency, equity and innovation in clinical genomics services. Bioinformatics approaches are a core component of clinical genomics services that ...
Pathogenic mobile element insertion in the MEN1 gene mimicking a deletion in MLPA: characterisation by long-read sequencing [0.03%]
长读序列表征的MEN1基因病原移动元件插入事件：MLPA检测中的缺失表型现象
Aleksandra Pfeifer,Jadwiga Zebracka-Gala,Agnieszka Pawlaczek et al.
Aleksandra Pfeifer et al.
Background: Mobile element insertions (MEIs) disrupting coding sequences are rare but clinically significant mutations that are often missed by standard next-generation sequencing (NGS) workflows. Multiple endocrine neopl...