A5067142228- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Breast Cancer Treatment Studies
- Breast Lesions and Carcinomas
- Nutrition, Genetics, and Disease
- Cancer Cells and Metastasis
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- RNA modifications and cancer
- Liver Disease and Transplantation
- Genetics, Bioinformatics, and Biomedical Research
- Cancer-related Molecular Pathways
- Eicosanoids and Hypertension Pharmacology
- Liver Disease Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Molecular Biology Techniques and Applications
- Single-cell and spatial transcriptomics
- Cancer-related gene regulation
BGI Group (China)
2019-2024
China National GeneBank
2018-2019
Tianjin Medical University
2019
Tianjin Infectious Diseases Hospital
2019
Abstract Invasive micropapillary carcinoma (IMPC) has very high rates of lymphovascular invasion and lymph node metastasis been reported in several organs. However, the genomic mechanisms underlying its are unclear. Here, we perform whole-genome sequencing tumor cell clusters from primary IMPC paired axillary metastases. Cell multiple foci arise a single subclone tumor. We find evidence that monoclonal metastatic ancestor shares frequency copy-number loss PRDM16 IGSF9 copy number gain ALDH2...
Whole-genome bisulfite sequencing (WGBS) technology can provide comprehensive DNA methylation at a single-base resolution on genome-wide scale, and is considered to be the gold standard for detection of 5-methylcytosine (5 mC). However, International Human Epigenome Consortium propose full methylome should have least 30 fold redundant coverage reference genome from single biological replicate. Therefore, it remains cost prohibitive large-scale studies. To find solution, DNBSEQ-Tx was...
Hepatic steatosis is the beginning phase of nonalcoholic fatty liver disease, and hyperhomocysteinemia (HHcy) a significant risk factor. Soluble epoxide hydrolase (sEH) hydrolyzes epoxyeicosatrienoic acids (EETs) other epoxy acids, attenuating their cardiovascular protective effects. However, involvement sEH in HHcy-induced hepatic unknown. The current study aimed to explore role lipid disorder. We fed 6-wk-old male mice chow diet or 2% (wt/wt) high-metnionine for 8 wk establish HHcy model....
Mutations in hereditary breast cancer genes play an important role the risk for cancer.Cancer susceptibility were sequenced 664 unselected cases from Guatemala. Variants annotated with ClinVar and VarSome.A total of 73 out subjects (11%) had a pathogenic variant high or moderate penetrance gene. The most frequently mutated BRCA1 (37/664, 5.6%) followed by BRCA2 (15/664, 2.3%), PALB2 (5/664, 0.8%), TP53 0.8%). Pathogenic variants also detected ATM, BARD1, CHEK2, MSH6. ratio BRCA1/BRCA2...
Pure mucinous breast cancer (PMC) is a rare histological type with favourable prognosis. However, cases recurrence have been reported and diagnosed in clinical practice. The mechanisms underlying PMC remain unknown. In this study, we aimed to identify the prognostic factors associated PMC.
Abstract Currently, over 20 genes have been defined that can confer susceptibility for high-risk breast cancer. Although research has proved the utility of multiple-gene sequencing in assessment cancer risk, there is little data from China patients. Here, we use a panel to identify variant spectrum Chinese subjects. A total 829 patients participated research. The coding regions 115 hereditary were sequenced using next generation platform. In total, 193 pathogenic variants identified 45 177...
Abstract Background Mutations in hereditary breast cancer genes play an important role the risk for cancer, however, little is known of type and frequency mutations Central American populations, including Guatemala. Methods Two separate panels susceptibility were used to sequence blood DNA from 664 unselected cases two large hospitals Variants annotated with ClinVar VarSome. Data a structured questionnaire was compare mutation carriers medium high penetrance genes. Results A total 73 out...
Abstract Hormone receptor positive and human epidermal growth factor 2 negative (HR+/HER2-) is generally associated with a more favorable outcome in breast cancer, where age may play roles the prognosis of invasive cancer. Earlier studies have found that effect on outcomes varied by tumor subtypes. Younger patients (< 40 years age) were significant increases risk cancer death HR+/HER2- tumors comparing to their older counterpart. Although it has been observed clinical setting,...
Abstract Background: Mutations in hereditary breast cancer genes play an important role the risk for cancer, however, little is known of type and frequency mutations Central American populations, including Guatemala. Methods: Two separate panels susceptibility were used to sequence blood DNA from 664 unselected cases two large hospitals Variants annotated with ClinVar VarSome. Data a structured questionnaire was compare mutation carriers medium high penetrance genes. Results: A total 73 out...
High-quality interpretation of BRCA1/2 variants plays a critical role in the clinical practice precision medicine. However, comprehensive system to evaluate quality and accuracy variant has yet be established. This study investigates performance an evaluating capacities among distinct laboratories China. The evaluation is based on reference database that contains 750 different BRCA1 / 2 . Evaluation was performed 41 We classified their into five levels. Only level A considered qualified....