ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum [0.03%]
一种罕见的肺类癌肿瘤分泌促肾上腺皮质激素扩大林奇综合征的范围
Kevin Van Compernolle,Jacques Van Huysse,Kathleen B M Claes et al.
Kevin Van Compernolle et al.
Neuroendocrine tumours (NETs) are increasingly associated with Lynch syndrome (LS). In this autosomal dominant cancer predisposition syndrome, a somatic mutation in addition to a germline pathogenic variant is required for tumour developmen...
Expert endoscopic surveillance in CDH1 pathogenic variant carriers seems safe, even after positive (pT1a) biopsies [0.03%]
CDH1基因病理性变异携带者的专家内镜随访似乎是安全的，即使在阳性（pT1a）活检之后也是安全的
Patrick R Benusiglio,Romain Leenhardt,Caroline Duros et al.
Patrick R Benusiglio et al.
Surveillance is increasingly considered an alternative to prophylactic total gastrectomy in asymptomatic carriers of CDH1 pathogenic variants. There are three main reasons for this paradigm shift: (1) decreasing penetrance estimates for sig...
Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome [0.03%]
通过三维面部形态学推进基因型和表型分析：克里杜夏综合症的启示
Michiel Vanneste,Harold Matthews,Yoeri Sleyp et al.
Michiel Vanneste et al.
Purpose: Facial dysmorphism is a feature of many monogenic disorders and is important in diagnostics, variant interpretation and nosology. Nevertheless, comprehensively assessing the complex facial shape changes associate...
Validation of the pathology-adjusted Manchester scoring system in over 10 000 assessments of cases with breast and/or ovarian cancer [0.03%]
评估病理调整的曼彻斯特评分系统在万余例乳腺癌和/或卵巢癌患者中的验证研究
D Gareth Evans,Robert D Morgan,Claire Forde et al.
D Gareth Evans et al.
Background: Genetic testing for (likely) pathogenic variants (PVs) in BRCA1/BRCA2 has been performed in Manchester since 1996, with molecular methods/techniques and eligibility criteria changing over time. In 2004, UK Nat...
Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome [0.03%]
基因和胚胎转录组分析揭示了MayeRokitanskyKüsterHauser综合征的分子和发育基础
Na Chen,Xi Cheng,Sen Zhao et al.
Na Chen et al.
Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterised by aplasia of the uterus, cervix and upper part of the vagina. The genetic aetiology remains incompletely understood. ...
No association of Alzheimer disease with the joint effect of HFE and TF in the mid-western Amish [0.03%]
HFE和TF的联合效应与阿米什人阿尔茨海默病无关
Yining Liu,Yeunjoo E Song,Audrey Lynn et al.
Yining Liu et al.
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...