Specific considerations for MUTYH carrier testing in individuals of Gujarati heritage: UK cancer genetics group recommendations [0.03%]
穆特亚基因携带者检测的特定考虑因素（具贾特人种）：英国癌症遗传学组建议
Terri Patricia McVeigh,Katie Snape,Ajith Kumar et al.
Terri Patricia McVeigh et al.
Irene Lo,Shraddha Meti,Avril Mason et al.
Irene Lo et al.
Background: Achondroplasia is the most common form of disproportionate short stature and is associated with reduced life expectancy. It is not clear to what extent cardiovascular disease (CVD) is responsible for this. The...
Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity [0.03%]
来自1型肌营养不良患者肌肉和血液RNA样本的分析发现新的疾病严重度剪接生物标志物的存在
Melissa Palma-Jiménez,Lisbeth Ramirez-Carvajal,Eyleen Corrales et al.
Melissa Palma-Jiménez et al.
Background: Myotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in DM1 is crucial for mo...
Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes [0.03%]
多中心审计：评估高致病性癌症易感基因结构异常患者的发现、报告和管理状况
Kate Richardson,Emma Douglas,Nour Elkhateeb et al.
Kate Richardson et al.
A structural aberration (SA) with secondary implications (SASIs) involving a cancer susceptibility gene is identified on chromosome microarray in approximately 0.6% tests performed on index cases. Identifying a SASI involving a high actiona...
Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meeting [0.03%]
遗传性乳腺癌和卵巢癌易感基因胚系致病突变阳性个体的再联系及随访：英国癌症遗传学小组共识会议
Joseph Christopher,Katharine Edgerley,Beth McIldowie et al.
Joseph Christopher et al.
Background: Routine genetic testing for germline pathogenic variants (GPVs) in cancer susceptibility genes (CSGs) in individuals with suspected hereditary cancer risk, and subsequent cascade testing in close relatives, ha...
Exploring the spectrum of central nervous system tumours in carriers of germline POT1 variants [0.03%]
探索POT1变异体遗传载体中枢神经系统肿瘤谱系
Emilie Neerup Nielsen,Anne Marie Jelsig,Jon Foss-Skiftesvik et al.
Emilie Neerup Nielsen et al.
Background: Pathogenic variants in the protection of telomerase 1 (POT1) gene are associated with predisposition to a broad spectrum of malignancies, although the specific genotype-phenotype correlation has not yet been f...
Dental agenesis as a novel phenotypical feature associated with hereditary diffuse gastric cancer in China [0.03%]
遗传性弥漫型胃癌的新型表型特征——牙缺失（中国病例）
Ziyue Wang,Qianwen Ding,Jiaqi Xu et al.
Ziyue Wang et al.
Background: Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant gastric cancer associated with germline CDH1 mutations. Carriers of CDH1 mutations have a higher risk of developing gastric cancer at a younger...
PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant [0.03%]
PURA蛋白核内定位异常：p.L148Wfs*77PURA突变模型中转录失调和DNA解旋缺陷的机制基础
Yan Wang,Ping Wang,Jingjing He et al.
Yan Wang et al.
Background: Heterozygous PURA (Purine-rich element-binding protein A) variants cause PURA syndrome, a neurodevelopmental disorder characterised by hypotonia, seizures and intellectual disability. Previous studies have foc...
Six at Sixty. The revised Ghent nosology for Marfan syndrome turns 15 - what we have gained, what we have missed [0.03%]
马凡综合征的根特标准修订版已满15岁——我们得到了什么，又错过了什么？
Bart Loeys,Reihaneh Asadi,Eline Vanaken et al.
Bart Loeys et al.
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature [0.03%]
ACTB基因缺失或单碱基功能丧失型变异：临床表型的扩展及文献综述
Marion Lesieur-Sebellin,Kristen Wigby,Elise Schaefer et al.
Marion Lesieur-Sebellin et al.
Background: Pathogenic gain-of-function or dominant-negative effect missense variations in ACTB are associated with a neurodevelopmental disorder characterised by intellectual disability (ID), seizures, sensorineural hear...