Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population [0.03%]
BRCA2 c.7847C>T(p.Ser2616Phe)基因变异与日本人乳腺癌和卵巢癌易感性的相关性研究的证据汇总及风险度测算
Kazuki Yamazawa,Arisa Ueki,Asami Kuga et al.
Kazuki Yamazawa et al.
Background: The BRCA2 c.7847C>T (p.Ser2616Phe) variant is specific to the Japanese population and has long remained a variant of uncertain significance. Because BRCA1/2 genetic testing serves as a companion diagnostic for...
Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome [0.03%]
单基因突变与复合型基因突变VHL病肾癌的临床特征对比研究：115例von Hippel-Lindau综合征患者的回顾性分析
Tao Liu,Haode Liu,Ruiyi Deng et al.
Tao Liu et al.
Purpose: von Hippel-Lindau (VHL) syndrome-related renal cell carcinoma (RCC) is the most prevalent hereditary RCC and exhibits clinical heterogeneity, complicating patient management. While VHL gene inactivation is the pr...
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis [0.03%]
CDK4和CDK6变异导致原发性小头畸形患者细胞周期缺陷和线粒体介导的细胞凋亡
Esra Isik,Mohammad Faraz Zafeer,Guney Bademci et al.
Esra Isik et al.
Background: The disruption of neural progenitor proliferation is a key mechanism underlying primary microcephaly, yet how cell cycle arrest leads to progenitor loss remains only partially understood. Cyclin-dependent kina...
Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies [0.03%]
II型、IX型和XI型胶原病的诊断遗传检测指征和结果分析
Alexis Ceecee Britten-Jones,Rosie C H Dawkins,Brianna Bucknor et al.
Alexis Ceecee Britten-Jones et al.
Background: Type II, IX and XI collagenopathies encompass Stickler syndrome and a spectrum of related connective tissue disorders with diverse and overlapping phenotypes. This study evaluated outcomes of commercial gene p...
Colonoscopy surveillance in Lynch syndrome: what it prevents and what it does not [0.03%]
林奇综合征的结肠镜监测：预防什么以及不预防什么
Richard S Houlston,Malcolm G Dunlop
Richard S Houlston
Lynch syndrome (LS), synonymous with hereditary non-polyposis colorectal cancer (HNPCC), is caused by germline pathogenic variants in MLH1, MSH2, MSH6 or PMS2, which confer an elevated lifetime risk of colorectal cancer (CRC). Since the ear...
Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants [0.03%]
DSPP基因变异型导致的牙本质发育不全的诊断复杂性
Gaétan Caravello,Alexandra Jiménez-Armijo,Marzena Kawczynski et al.
Gaétan Caravello et al.
Background: Variants in the dentin sialophosphoprotein (DSPP) gene are associated with dentin dysplasia type II (DD-II; OMIM # 125420) and dentinogenesis imperfecta (DI) types II (OMIM # 125490) and III (OMIM # 125500). D...
MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans [0.03%]
MGRN1与心脏和左右异位缺陷相关联：人类中的首个基因型-表型报告
Laura Kasak,Kristiina Rull,Anu Valkna et al.
Laura Kasak et al.
Recurrent idiopathic severe fetal structural anomalies present major challenges for reproductive decision-making and genetic counselling. A non-consanguineous healthy Estonian couple had experienced two electively terminated pregnancies at ...
Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies [0.03%]
来自GENCOV和HostSeq的COVID-19基因组测序研究的重要DNA变异
Erika Frangione,Radhika Mahajan,Juan De Los Rios et al.
Erika Frangione et al.
Background: Vast amounts of genome sequencing data generated from large-scale research studies like HostSeq provide an opportunity to summarise the spectrum of pathogenic variation in a subset of the Canadian population. ...
Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation [0.03%]
纳米孔自适应采样测序检测平衡易位效率评估
Meng Gao,Jun Ren,Cuiting Peng et al.
Meng Gao et al.
Background: Balanced translocation (BT) carriers have a high risk of recurrent miscarriage and abnormal offspring due to unbalanced gamete production. Clinical genetic testing often fails to detect BTs that fall below mic...
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome [0.03%]
对一组较大的法国患者Potocki-Lupski综合征表型的描述
Alicia Coudert,Pauline Le Tanno,William Dufour et al.
Alicia Coudert et al.
Background: Potocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the RAI1 gene establishes the diagnosis. Deletion ...