A5077266000- Ovarian cancer diagnosis and treatment
- Prenatal Screening and Diagnostics
- Endometrial and Cervical Cancer Treatments
- Chromatin Remodeling and Cancer
- Sarcoma Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Cervical Cancer and HPV Research
- Parvovirus B19 Infection Studies
- Testicular diseases and treatments
- Fetal and Pediatric Neurological Disorders
- Cancer-related molecular mechanisms research
- Epigenetics and DNA Methylation
- Breast Lesions and Carcinomas
- RNA modifications and cancer
- Uterine Myomas and Treatments
- Congenital Anomalies and Fetal Surgery
- MRI in cancer diagnosis
- Lung Cancer Treatments and Mutations
- Gastric Cancer Management and Outcomes
- Cancer Genomics and Diagnostics
- Neuroendocrine Tumor Research Advances
- Intraperitoneal and Appendiceal Malignancies
- Cholangiocarcinoma and Gallbladder Cancer Studies
- FOXO transcription factor regulation
- Radiomics and Machine Learning in Medical Imaging
Fudan University Shanghai Cancer Center
2014-2025
Shanghai Medical College of Fudan University
2014-2023
Fudan University
2022
University of Chinese Academy of Sciences
2016
BGI Group (China)
2013-2015
Shenzhen Municipal People's Government
2013-2014
Key Laboratory of Guangdong Province
2014
China Medical University
2014
First Hospital of China Medical University
2014
The First Affiliated Hospital, Sun Yat-sen University
2013
This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne muscular dystrophy (DMD) using a newly developed haplotype-based approach.Eight families at risk DMD were recruited this study. Parental haplotypes constructed target-region sequencing data from the parents and probands. Fetal hidden Markov model through maternal plasma DNA sequencing. The presence of linked to mutant alleles in males indicated affected fetuses. method was further validated by comparing inferred...
ABSTRACT Objective The objective of this study is to assess the performance noninvasive prenatal testing for trisomies 21 and 18 on basis massively parallel sequencing cell‐free DNA from maternal plasma in twin pregnancies. Method A double‐blind was performed over 12 months. total 189 pregnant women carrying twins were recruited seven hospitals. Maternal detect 18. fetal karyotype used as gold standard estimate sensitivity specificity sequencing‐based test. Results There nine cases trisomy...
Uterine tumor resembling ovarian sex cord (UTROSCT) is a rare mesenchymal neoplasm that mainly harbors NCOA1-3 rearrangements with partner genes ESR1 or GREB1 . Here, we explored 23 UTROSCTs by targeted RNA sequencing. The association between molecular diversity and clinicopathologic features was investigated. mean age of our cohort 43 years (23-65 y). Only 15 patients (65%) were originally diagnosed UTROSCTs. Mitotic figures ranged from 1 to 7/10 high power fields, primary tumors increased...
Abstract Background Several studies have reported the association of SNP rs2414096 in CYP19 gene with hyperandrogenism, which is one clinical manifestations polycystic ovary syndrome (PCOS). These suggest that may be involved etiopathogenisis PCOS. To investigate whetherthe polymorphism associated susceptibility to PCOS, we designed a case-controlled study including 684 individuals. Methods A individuals (386 PCOS patients and 298 controls) was performed assess Genotyping conducted by...
The applications of massively parallel sequencing technology to fetal cell-free DNA (cff-DNA) have brought new insight non-invasive prenatal diagnosis. However, most previous research based on maternal plasma has been restricted aneuploidies. To detect specific parentally inherited mutations, invasive approaches obtain are the current standard in clinic because experimental complexity and resource consumption previously reported approaches.Here, we present a simple effective method for...
Background Copy number variations (CNVs) represent an important type of genetic variation that deeply impact phenotypic polymorphisms and human diseases. The advent high-throughput sequencing technologies provides opportunity to revolutionize the discovery CNVs explore their relationship with However, most existing methods depend on depth show instability low sequence coverage. In this study, using coverage whole-genome (LCS) we have developed effective population-scale CNV calling (PSCC)...
Liquid biopsy is a promising approach for early detection of gynecological malignancies. In the PERCEIVE-I study, Cancer cases (n = 249) and age-matched non-cancer controls are randomly divided into training test sets at 1:1 ratio. Data derived from multi-omics assays obtained including cell-free DNA methylation panel targeting ≈490 000 CpG sites, mutation comprising 168 genes, eight tumor protein markers. The results showed that model outperformed models, demonstrating higher sensitivity...
Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently technologies were PCR followed by capillary electrophoresis SNP typing array, respectively. Here, we developed a (NIPAT) based on with DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), number of total SNP, fetal fraction effective sequencing depth) designed three different...
Background The discovery of cell free fetal DNA (cff-DNA) in maternal plasma has brought new insight for noninvasive prenatal diagnosis. Combining with the rapidly developed massively parallel sequencing technology, detection chromosome aneuploidy and single base variation been successfully validated. However, few studies discussed possibility pathogenic CNVs detection. Methodology/Principal Findings A novel algorithm was firstly tested 5 pairs parents heterozygote α-thalassemia Southeast...
Ovarian metastatic tumors from lung adenocarcinoma are rare, and a serial study of these is lacking to date. Additionally, better understanding the clinicopathological molecular characteristics needed. Seven cases ovarian metastasis 2013 2017 at our institute were investigated. The results combined with those found in literature review. A total 16 analyzed present study. We examined immunohistochemical characteristics, further detected ALK rearrangement by FISH (fluorescence situ...
To assess the ability of preoperative positron emission tomography/computed tomography (PET/CT) scans to predict postoperative residual disease in advanced epithelial ovarian cancer (AEOC).Thirty-one women with suspected AEOC were enrolled our prospective study before surgery from July 2016 December 2017. Complete resection was determined as no (R0) after surgery. A PET/CT scan obtained within 2 weeks hospital. The PET score sum each radiological criteria Suidan's model. correlations between...
Ovarian clear cell carcinoma (OCCC) is the second subtype of ovarian epithelial reported to be closely related Lynch syndrome (LS). ARID1A mutation an important pathogenetic mechanism in OCCC that leads loss expression approximately half OCCCs. However, correlation MMR status and deficiency unclear. The current study aimed identify clinical histopathological characteristics associated with dMMR further explore association between deficiency.A cohort 176 primary patients was enrolled review...
The aim of this study was to compare the surgical and pathological outcomes for patients with early-stage cervical cancer after abdominal radical trachelectomy (ART) hysterectomy (ARH).A prospective database ART ARH procedures performed in a standardized manner by same group analyzed. 3-segment technique used accurate analysis parametrial lymph nodes (PMLNs), measurements were recorded pathologist. Standard statistical tests used.Between August 2012 2013, attempted 39 (28.6%), 90 (71.4%)....
To develop a fetal sex determination method based on maternal plasma sequencing (MPS), assess its performance and potential use in X-linked disorder counseling.900 cases of MPS data from previous study were reviewed, which 100 800 used as training validation set, respectively. The percentage uniquely mapped reads Y chromosome was calculated to classify male female cases. Eight pregnant women who are carriers Duchenne muscular dystrophy (DMD) mutations recruited, whose subjected multiplex...