Two different, mutually exclusively distributed, TP53 mutations in ovarian and peritoneal tumor tissues of a serous ovarian cancer patient: indicative for tumor origin? [0.03%]
卵巢癌患者的卵巢和腹膜肿瘤组织中两种不同的相互排斥的TP53突变：指示肿瘤起源？
Nyamdelger Sukhbaatar,Anna Bachmayr-Heyda,Katharina Auer et al.
Nyamdelger Sukhbaatar et al.
High-grade serous ovarian cancer (HGSOC) is characterized by a TP53 mutation rate of up to 96.7% and associated with a more aggressive tumor biology. The origin of HGSOC is thought to arise either from fallopian tube secretory cells or the ...
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome [0.03%]
CLUAP1（纤毛内转运蛋白）复合杂合变异导致的一种新的小脑回肠畸形和颜面齿槽骨骼畸形综合征重叠综合症病例报告
Jennifer J Johnston,Chanjae Lee,Ingrid M Wentzensen et al.
Jennifer J Johnston et al.
Disruption of normal ciliary function results in a range of diseases collectively referred to as ciliopathies. Here we report a child with a phenotype that overlapped with Joubert, oral-facial-digital, and Pallister-Hall syndromes including...
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia [0.03%]
全外显子组测序鉴定出一个α-珠蛋白三重复簇，导致β-地中海贫血临床症状加重
Orna Steinberg-Shemer,Jacob C Ulirsch,Sharon Noy-Lotan et al.
Orna Steinberg-Shemer et al.
Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical clinical presentation or targeted genotyping approaches are inconclusive. Here, we de...
Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care [0.03%]
儿科测序研究中检测到的胚系BRCA2突变会影响父母的评估和治疗
Michael F Walsh,Jennifer Kennedy,Megan Harlan et al.
Michael F Walsh et al.
There has been no indication to test for BRCA1/2 in children (with the rare exception of Fanconi anemia) as screening begins in adult years and there is a potential to induce anxiety related to adult-onset cancers. However, in the setting o...
Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia [0.03%]
APTX基因的新突变与共济失调-眼动障碍关联性的鉴定
Jingga Inlora,M Reza Sailani,Hamidreza Khodadadi et al.
Jingga Inlora et al.
Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on m...
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features [0.03%]
ALPK3基因突变致一例先天性心肌病伴畸形表现患者
Ahmet Okay Çağlayan,Rabia Gonul Sezer,Hande Kaymakçalan et al.
Ahmet Okay Çağlayan et al.
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in re...
Successful immune checkpoint blockade in a patient with advanced stage microsatellite-unstable biliary tract cancer [0.03%]
一例微卫星不稳定性胆道癌成功应用免疫检查点抑制剂治疗的病例报告
Elena Czink,Matthias Kloor,Benjamin Goeppert et al.
Elena Czink et al.
Cancers acquire multiple somatic mutations that can lead to the generation of immunogenic mutation-induced neoantigens. These neoantigens can be recognized by the host's immune system. However, continuous stimulation of immune cells against...
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis [0.03%]
快速全基因组序列分析鉴别出新的NPC1纯合变异型与一个7周大的男婴胆汁郁积性尼曼-匹克病C1型相关
Amber Hildreth,Kristen Wigby,Shimul Chowdhury et al.
Amber Hildreth et al.
Niemann-Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1 Although characterized as a progressive neurologica...
Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an STK11 variant [0.03%]
STK11变异型双表型乳腺癌患者接受依维莫司治疗获得持续应答的病例报告
Christine A Parachoniak,Andrew Rankin,Bernadette Gaffney et al.
Christine A Parachoniak et al.
Metastatic triple-negative breast cancer comprises 12%-17% of breast cancers and carries a poor prognosis relative to other breast cancer subtypes. Treatment options in this disease are largely limited to systemic chemotherapy. A majority o...
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma [0.03%]
携带CHEK2:c.1100delC胚系突变的盆腔粘膜型平滑肌肉瘤的基因组分析及同时发生的转移性浸润性导管乳腺癌的诊断
My Linh Thibodeau,Caralyn Reisle,Eric Zhao et al.
My Linh Thibodeau et al.
We describe a woman with the known pathogenic germline variant CHEK2:c.1100delC and synchronous diagnoses of both pelvic genital type leiomyosarcoma (LMS) and metastatic invasive ductal breast carcinoma. CHEK2 (checkpoint kinase 2) is a tum...