Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia [0.03%]
精准医疗中的低效率问题：遗传咨询师（GC）能否成为解决方案？亚洲首个GC主导的癌症遗传学服务的经验教训
Jeanette Yuen,Shao-Tzu Li,Eliza Kate Courtney et al.
Jeanette Yuen et al.
Purpose: The utility of genetic testing (GT) to guide cancer treatment, risk management and prevention has driven the demand for cancer genetic services. The global shortage of genetic counsellors (GCs) has led to the mai...
Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes [0.03%]
涉及TP53和FLCN基因的多靶位遗传性肿瘤综合征中多个早期发作的非典型皮肤纤维组织细胞瘤
Schaida Schirwani,Sylvia Ghattas,Nicholas Wilson et al.
Schaida Schirwani et al.
Li-Fraumeni syndrome and Birt-Hogg-Dubé syndrome are distinct cancer predisposition syndromes caused by germline pathogenic variants (GPVs) in TP53 and FLCN, respectively. Multilocus inherited neoplasia alleles syndrome (MINAS) describes t...
Staci Kallish,Antonia Camporeale,Robert J Hopkin et al.
Staci Kallish et al.
Background: Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. Females with Fabry disease often experience diagnostic delays and an und...
APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites [0.03%]
APC I1307K与临床管理：来自英国生物样本库的结直肠癌及其他癌症风险的病例对照分析中的见解（阿什肯纳齐犹太人和非阿什肯纳齐白人）
Sophie Allen,Charlie F Rowlands,Andrew Latchford et al.
Sophie Allen et al.
Background: APC c.3920T>A; p.Ile1307Lys (I1307K), prevalent in individuals of Ashkenazi Jewish (AJ) origin, has been associated with a modestly increased colorectal cancer (CRC) risk. Clinical recommendations for I1307K h...
Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists [0.03%]
加拿大医学遗传学院关于遗传病生殖携带者筛查立场的声明
Ritu B Aul,Karen Elizabeth Canales,Isabelle De Bie et al.
Ritu B Aul et al.
Purpose and scope: The aim of this position statement is to provide recommendations aimed at Canadian reproductive care clinicians and genetics professionals regarding the use of reproductive carrier screening for autosom...
Resolving structural variations missed by short-read sequencing uncovers their pathogenicity [0.03%]
解析短读长测序错过的结构变异以揭示其致病性
Caroline Schluth-Bolard,Laïla El Khattabi,Pierre-Antoine Rollat-Farnier et al.
Caroline Schluth-Bolard et al.
Background: Short-read genome sequencing (sr-GS) affords efficient and accurate characterisation of apparently balanced chromosomal rearrangement (ABCR) breakpoints except in 9%-11% of cases that remain undetectable. ...
Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort [0.03%]
法国出血性遗传性动脉畸形队列SMAD4变异功能测定的建立
Louane Despas,Lea Vialet,Maud Tusseau et al.
Louane Despas et al.
Background: Hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) can be caused by SMAD4 pathogenic variants. SMAD4 is a common transcription factor of the BMP/TGFβ signalling pathway. In thi...
First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked [0.03%]
CYP11B1基因内的首个内含子区倒位导致的11β-羟化酶缺陷：易被忽略的分子诊断方法
Clément Janot,Kahina Mohammedi,Delphine Mallet et al.
Clément Janot et al.
11β-hydroxylase deficiency (11βOHD) is the second most common cause (5%) of congenital adrenal hyperplasia (CAH). The CYP11B1 gene shares 95% of genomic sequence homology with CYP11B2, and therefore Sanger sequencing remains the gold stan...
Homologous recombination deficiency in unselected cases of high-grade ovarian carcinoma [0.03%]
高分级卵巢癌患者同源重组缺陷的检测（未选择病例）
Robert D Morgan,George J Burghel,Joseph Shaw et al.
Robert D Morgan et al.
New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review [0.03%]
垂体增生伴额外综合征的新患者，包括PTCH2变异型及文献综述
Kochakorn Buasri,Pattima Pakhathirathien,Thiparom Sananmuang et al.
Kochakorn Buasri et al.
Background: Duplication of the pituitary gland (DPG)-plus syndrome is an extremely rare developmental malformation of unknown aetiology. Methods: ...