A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes [0.03%]
已知IRD基因中隐藏的结构变异：两个新疾病候选基因的警示故事
Hilary A Scott,Anna Larson,Shi Song Rong et al.
Hilary A Scott et al.
Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is an inherited condition leading to vision loss, affecting 1 in 3500 people. More than 270 genes are known to be implicated in the inherited retinal degenerations (IRDs), yet ge...
Somatic variation as an incidental finding in the pediatric next-generation sequencing era [0.03%]
儿童下一代测序时代作为偶然发现的体细胞变异
Marilena Melas,Mariam T Mathew,Mari Mori et al.
Marilena Melas et al.
The methodologic approach used in next-generation sequencing (NGS) affords a high depth of coverage in genomic analysis. Inherent in the nature of genomic testing, there exists potential for identifying genomic findings that are incidental ...
Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity [0.03%]
携带有常染色体隐性SLC30A9变异并且双亲无亲缘婚配的一个病例的脑肾综合征研究
Robert Kleyner,Mohammad Arif,Elaine Marchi et al.
Robert Kleyner et al.
An SLC30A9-associated cerebrorenal syndrome was first reported in consanguineous Bedouin kindred by Perez et al. in 2017. Although the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling and nuclear...
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data [0.03%]
基于RNA和临床数据，对规范的剪接改变MUTYH c.934-2A> G进行良性的可能性分类
Felicia Hernandez,Blair R Conner,Marcy E Richardson et al.
Felicia Hernandez et al.
MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterized by the development of multiple adenomatous colonic polyps and an increased lifetime risk of colorectal cancer. Germline biallelic pathogenic variants in MUTYH...
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications [0.03%]
通过基因组测序在500个疑似遗传疾病亲子 trio 中检测体细胞嵌合体：临床和遗传咨询意义
Courtney B Cook,Linlea Armstrong,Cornelius F Boerkoel et al.
Courtney B Cook et al.
Identifying genetic mosaicism is important in establishing a diagnosis, assessing recurrence risk, and providing accurate genetic counseling. Next-generation sequencing has allowed for the identification of mosaicism at levels below those d...
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2 [0.03%]
Beckwith-魏德曼综合征的表观遗传嵌合和细胞负荷因印记控制区2失去甲基化引起
Kelly A Duffy,Evan R Hathaway,Steven D Klein et al.
Kelly A Duffy et al.
Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth disorder caused by epigenetic alterations on Chromosome 11p15.5. Most molecular changes are sporadic and are thought to occur in a mosaic pattern. Thereby, the distribution of affected ...
PIK3CA mutation in a case of CTNNB1-mutant sinonasal glomangiopericytoma [0.03%]
CTNNB1突变的鼻窦巩膜血管周细胞瘤中PIK3CA基因的一个突变
Christopher S Hong,Mohammad Khan,Jordan M Sukys et al.
Christopher S Hong et al.
Glomangiopericytomas are rare, primary sinonasal tumors. The existing literature is mostly limited to reports describing the clinicopathologic characteristics of these tumors. Comprehensive genetic characterization of glomangiopericytomas r...
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome [0.03%]
导致Snyder-Robinson综合征的SMS基因错义变异的母系嵌合体现象
Mohammad Marhabaie,Scott E Hickey,Katherine Miller et al.
Mohammad Marhabaie et al.
There is increasing recognition for the contribution of genetic mosaicism to human disease, particularly as high-throughput sequencing has enabled detection of sequence variants at very low allele frequencies. Here, we describe an infant ma...
Clinical outcomes and longitudinal circulating tumor DNA changes after treatment with nivolumab and olaparib in immunotherapy relapsed melanoma with detected homologous recombination deficiency [0.03%]
免疫治疗复发且检测到同源重组缺陷的黑色素瘤患者使用尼伏鲁单抗和奥拉帕利治疗后的临床结局及纵向循环肿瘤DNA变化
Karam Khaddour,Michael Ansstas,George Ansstas
Karam Khaddour
The treatment of immunotherapy relapsed cutaneous melanoma constitutes a challenge in both research and clinical practice fields given the lack of effective therapeutic options. Homologous recombination deficiency (HRD) has been identified ...
Potential benefit of treatment with MEK inhibitors and chemotherapy in BRAF-mutated KRAS wild-type pancreatic ductal adenocarcinoma patients: a case report [0.03%]
BRAF突变KRAS野生型胰腺导管腺癌患者使用MEK抑制剂和化疗治疗的潜在益处：病例报告
Bach Ardalan,Jose Ignacio Azqueta,Jonathan England et al.
Bach Ardalan et al.
This is the first case report of a 60-yr-old female who underwent therapy for metastatic pancreatic cancer with fluorouracil, leucovorin, irinotecan, and oxaliplatin (FOLFIRINOX). Upon the progression of her disease, she was switched to gem...