Chunling Hu
A5003869193- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Health Systems, Economic Evaluations, Quality of Life
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Ovarian cancer diagnosis and treatment
- Genetic Associations and Epidemiology
- Pancreatic and Hepatic Oncology Research
- CRISPR and Genetic Engineering
- Advanced Causal Inference Techniques
- RNA modifications and cancer
- Bioinformatics and Genomic Networks
- Fibroblast Growth Factor Research
- Cardiac Fibrosis and Remodeling
- Virology and Viral Diseases
- Liver Disease Diagnosis and Treatment
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Prostate Cancer Treatment and Research
- Molecular Biology Techniques and Applications
- Science, Research, and Medicine
- Genetics, Bioinformatics, and Biomedical Research
- Epigenetics and DNA Methylation
- Respiratory viral infections research
Mayo Clinic in Arizona
2016-2025
Mayo Clinic
2015-2024
East China Normal University
2024
First Affiliated Hospital of Zhengzhou University
2016-2024
WinnMed
2012-2024
Shaanxi University of Chinese Medicine
2024
Xi'an Jiaotong University
2023
Carrier (United States)
2023
The First Affiliated Hospital, Sun Yat-sen University
2020
Mayo Clinic in Florida
2017-2020
Population-based estimates of the risk breast cancer associated with germline pathogenic variants in cancer-predisposition genes are critically needed for assessment and management women inherited variants.
Germline pathogenic variants in BRCA1 and BRCA2 predispose to an increased lifetime risk of breast cancer. However, the relevance germline other genes from multigene hereditary cancer testing panels is not well defined.To determine risks associated with predisposition genes.A study population 65 057 patients receiving genetic panels. Associations between non-BRCA1 non-BRCA2 were estimated a case-control analysis Exome Aggregation Consortium reference controls. The women underwent March 15,...
Individuals genetically predisposed to pancreatic cancer may benefit from early detection. Genes that predispose and the risks of associated with mutations in these genes are not well defined.To determine whether inherited germline predisposition increased cancer.Case-control analysis identify genes; longitudinal patients for prognosis. The study included 3030 adults diagnosed as having enrolled a Mayo Clinic registry between October 12, 2000, March 31, 2016, last follow-up on June 22, 2017....
Germline genetic testing with hereditary cancer gene panels can identify women at increased risk of breast cancer. However, those triple-negative (estrogen receptor–negative, progesterone human epidermal growth factor receptor–negative) (TNBC) cannot be identified because predisposition genes for TNBC, other than BRCA1, have not been established. The aim this study was to define the panel associated TNBC. Multigene 21 in 8753 TNBC patients performed by a clinical laboratory, and 17 2148...
PurposeDespite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications and genes to include.MethodsTo inform clinical approach MGPT, we comprehensively evaluated 32 predisposition by assessing phenotype-specific pathogenic variant (PV) frequencies, risk associations, performance genetic criteria in a cohort 165,000 patients referred MGPT.ResultsWe identified extensive heterogeneity types commonly germline...
PURPOSE To estimate the risk of contralateral breast cancer (CBC) among women with germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2. METHODS The study population included 15,104 prospectively followed within CARRIERS treated ipsilateral surgery for invasive cancer. CBC was estimated PV carriers each gene compared without PVs a multivariate proportional hazard regression analysis accounting competing death adjusting patient tumor characteristics. primary analyses...
Germline BRCA2 loss-of function variants, which can be identified through clinical genetic testing, predispose to several cancers1–5. However, variants of uncertain significance limit the utility test results. Thus, there is a need for functional characterization and classification all facilitate management individuals with these variants. Here we analysed possible single-nucleotide from exons 15 26 that encode DNA-binding domain hotspot pathogenic missense To enable this, used saturation...
The prevalence of germline pathogenic mutations in a comprehensive panel cancer predisposition genes is not well-defined for patients with pancreatic ductal adenocarcinoma (PDAC). To estimate the frequency 22 genes, 96 unselected family history who were recruited to Mayo Clinic Pancreatic Cancer patient registry over 12-month period screened by next-generation sequencing. Fourteen 13 (13.5%) identified eight genes: four ATM, two BRCA2, CHEK2, and MSH6, one BARD1, BRCA1, FANCM, NBN. These...
Sequencing tests assaying panels of genes or whole exomes are widely available for cancer risk evaluation. However, methods classification variants resulting from this testing not well studied. We evaluated the ability a variant-classification methodology based on American College Medical Genetics and Genomics (ACMG) guidelines to define rate mutations uncertain significance (VUS) in 180 medically relevant genes, including all ACMG-designated reportable non-cancer-associated individuals who...
Understanding the gene-specific risks for development of breast cancer will lead to improved clinical care those carrying germline mutations in predisposition genes. We sought detail spectrum and refine risk estimates known proposed susceptibility Targeted massively-parallel sequencing was performed identify copy number variants 26 or genes 2134 BRCA1/2-negative women with familial (proband a family history ovarian cancer) from largely European-Caucasian multi-institutional cohort....
Purpose BRCA1/2 mutations are frequent in patients with triple-negative breast cancer (TNBC). These often treated primary systemic chemotherapy. The aim of this study was to analyze the effects on pathologic complete response (pCR) and disease-free survival (DFS) a cohort TNBC anthracycline taxane–containing chemotherapy, or without bevacizumab. Patients Methods Germline DNA sequenced identify BRCA1 BRCA2 493 from GeparQuinto study. pCR rates were compared mutation, as well In addition,...
To determine the sensitivity and specificity of genetic testing criteria for detection germline pathogenic variants in women with breast cancer.
Abstract Background The germline cancer predisposition genes associated with increased risk of each clinical subtype breast cancer, defined by estrogen receptor (ER), progesterone (PR), and HER2, are not well defined. Methods A total 54 555 invasive patients 56 480 tumors were subjected to hereditary multigene panel testing. Heterogeneity for across subtypes was assessed comparing mutation frequencies gene among tumor association studies between reference controls. Results Mutations in 15...
This study assessed the joint association of pathogenic variants (PVs) in breast cancer (BC) predisposition genes and polygenic risk scores (PRS) with BC general population.
Screening mammography and magnetic resonance imaging (MRI) are recommended for women with ATM, CHEK2, PALB2 pathogenic variants. However, there few data to guide screening regimens these women.To estimate the benefits harms of breast cancer strategies using MRI at various start ages variants.This comparative modeling analysis used 2 established microsimulation models from Cancer Intervention Surveillance Modeling Network (CISNET) evaluate different strategies. Age-specific risks were...
Abstract The molecular events and transcriptional plasticity driving brain metastasis in clinically relevant breast tumor subtypes has not been determined. Here we comprehensively dissect genomic, transcriptomic clinical data patient-matched longitudinal samples, unravel distinct programs enriched metastasis. We report on subtype specific hub genes functional processes, central to disease-affected networks Importantly, luminal metastases identify homologous recombination deficiency operative...
Among patients with metastatic breast cancer (mBC), the frequency of germline mutations in susceptibility genes and clinical relevance these are unclear. In this study, a prospective cohort mBC was used to determine mutation rates for (BC) predisposition genes, evaluate characteristics mutations, assess influence on patient outcome.
Heparan sulfate proteoglycans (HSPGs) act as coreceptors or storage sites for growth factors and cytokines such fibroblast factor Wnts. Glypican 3 (GPC3) is the most highly expressed HSPG in hepatocellular carcinoma (HCC). Sulfatase 2 (SULF2), an enzyme with 6-O-desulfatase activity on HSPGs, up-regulated 60% of primary HCCs associated a worse prognosis. We have previously shown that oncogenic effect SULF2 HCC may be mediated part through up-regulation GPC3. Here we demonstrate GPC3...
Circulating tumor cells (CTCs) in blood are associated with poor survival of patients breast, prostate, or colon cancer. We hypothesized that CTCs cholangiocarcinoma (CCA). Eighty‐eight CCA were prospectively enrolled at Mayo Clinic Rochester between June 2010 and September 2014. The CellSearch system by Veridex was used for detection peripheral blood. Associations CTC, patient characteristics, examined using the Cox's proportional hazards model. Fifteen (17%) positive CTC ≥2 8 (9%) ≥5....
Breast cancer risks conferred by many germline missense variants in the
Abstract Background The risks of breast cancer in African American (AA) women associated with inherited mutations predisposition genes are not well defined. Thus, whether multigene germline hereditary testing panels applicable to this population is unknown. We assessed associations between panel-based and risk 5054 AA 4993 unaffected drawn from 10 epidemiologic studies. Methods Germline DNA samples were sequenced for 23 using a QIAseq multiplex amplicon panel. Prevalence odds ratios (ORs)...
Determination of the clinical relevance rare germline variants uncertain significance (VUSs) in BRCA2 cancer predisposition gene remains a challenge as result limited availability data for use classification models. However, laboratory-based functional derived from validated assays known sensitivity and specificity may influence interpretation VUSs. We evaluated 252 missense VUSs DNA-binding domain by using homology-directed DNA repair (HDR) assay identified 90 non-functional 162 functional....