Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers [0.03%]
BRCA1 185delAG突变携带者中固有免疫基因的致病错义变异与乳腺癌发病年龄提前有关
Sapir Shemesh,Rinat Bernstein-Molho,Shelley Shoval et al.
Sapir Shemesh et al.
Background: Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, suggesting the invo...
The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition [0.03%]
SINE们在这里：识别出的一例与DICER1相关肿瘤易感性患者中的致病Alu插入序列
Oluwatosin O Taiwo,Paola Angelini,Iman Awadh et al.
Oluwatosin O Taiwo et al.
DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP requires identification of a (likely) pathogen...
ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer [0.03%]
ATM c.7374_7375insAlu是一种与胰腺癌和乳腺癌易感性相关的法国加拿大人共同起源致病变异体
Yifan Wang,Celine Domecq,Adeline Cuggia et al.
Yifan Wang et al.
Founder pathogenic variants (PVs) in BRCA1, BRCA2 and PALB2 increase lifetime risk of developing breast (BC), ovarian (OC) and pancreatic (PC) cancer. They have been identified in French-Canadians (FC), a population exhibiting genetic drift...
Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care [0.03%]
青少年及年轻成人晚期癌症患者对标准肿瘤治疗中完整基因组分析的看法
Lina H Lankhorst,Milou J P Reuvers,Noor A A Giesbertz et al.
Lina H Lankhorst et al.
Purpose: Tumour genomic profiling, including whole genome sequencing (WGS), offers opportunities for refined diagnosis and personalised treatment for adolescents and young adults (AYAs) with advanced or poor prognostic ca...
Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants [0.03%]
11509例携带已知耳聋致病变异新生儿的基因型与表型相关性分析
Jianjun Li,Zijun Zhan,Xiao Zhang et al.
Jianjun Li et al.
Background: This study aimed to analyse the distribution and genotype-phenotype correlations of pathogenic variants among 11 509 newborns carrying at least one common deafness-associated variant. ...
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...