Simon S. K. Lee
A5004596401- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Genetic Associations and Epidemiology
- DNA Repair Mechanisms
- Breast Lesions and Carcinomas
- Lung Cancer Treatments and Mutations
- Cardiac electrophysiology and arrhythmias
- Breast Cancer Treatment Studies
- Cardiomyopathy and Myosin Studies
- Free Radicals and Antioxidants
- Plant Pathogens and Resistance
- Hemoglobinopathies and Related Disorders
- Cancer Diagnosis and Treatment
- Blood groups and transfusion
- Receptor Mechanisms and Signaling
- Lung Cancer Research Studies
- Cardiac Arrhythmias and Treatments
- Cardiac Valve Diseases and Treatments
- Williams Syndrome Research
- Endometrial and Cervical Cancer Treatments
- Biochemical Acid Research Studies
- Cancer Cells and Metastasis
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genomics, phytochemicals, and oxidative stress
- Liver Disease Diagnosis and Treatment
Icahn School of Medicine at Mount Sinai
2021-2025
Memorial Sloan Kettering Cancer Center
2019-2020
University of Macau
2010
Abstract Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes 1,2 and molecular mechanisms are often specific to cell type 3,4 . Here, characterize the genetic contribution these across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases T2D. We identify 1,289 independent signals at significance ( P < 5 × 10 −8 ) map 611 loci, which 145...
Abstract Background Patients with human papillomavirus–related oropharyngeal cancers have excellent outcomes but experience clinically significant toxicities when treated standard chemoradiotherapy (70 Gy). We hypothesized that functional imaging could identify patients who be safely deescalated to 30 Gy of radiotherapy. Methods In 19 patients, pre- and intratreatment dynamic fluorine-18-labeled fluoromisonidazole positron emission tomography (PET) was used assess tumor hypoxia. without...
Background: Calcific aortic stenosis (CAS) is the most common valvular heart disease in older adults and has no effective preventive therapies. Genome-wide association studies (GWAS) can identify genes influencing may help prioritize therapeutic targets for CAS. Methods: We performed a GWAS gene study of 14 451 patients with CAS 398 544 controls Million Veteran Program. Replication was Program, Penn Medicine Biobank, Mass General Brigham BioVU, BioMe, totaling 12 889 cases 348 094 controls....
Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk breast cancer development, consistent with role PALB2 homologous recombination (HR) DNA repair. Here, we sought define repertoire somatic genetic alterations PALB2-associated cancers (BCs), and whether BCs display bi-allelic inactivation and/or genomic features HR-deficiency (HRD). Twenty-four patients mutations were analyzed by whole-exome sequencing (WES, n = 16) or...
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes. To characterise the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study (GWAS) data from 2,535,601 individuals (39.7% non-European ancestry), including 428,452 T2D cases. We identify 1,289 independent signals at significance (P<5×10 − 8 ) map 611 loci, of which 145 loci are previously unreported. define eight non-overlapping...
Histologic special types of breast cancer (BC) account for ~20% BCs. Large sequencing studies metastatic BC have focused on invasive ductal carcinomas no type (IDC-NSTs). We sought to define the repertoire somatic genetic alterations histologic BC. reanalyzed targeted capture data 309 BC, including and primary lobular (ILCs;
Substantial data support a heritable basis for supraventricular tachycardias, but the genetic determinants and molecular mechanisms of these arrhythmias are poorly understood. We sought to identify loci associated with atrioventricular nodal reentrant tachycardia (AVNRT) accessory pathways or reciprocating (AVAPs/AVRT).
Objective Despite good prognosis for patients with low-risk endometrial cancer, a small subset of women low-grade/low-stage cancer experience disease recurrence and death. The aim this study was to characterize clinical features mutational profiles recurrent, low-grade, non-myoinvasive, ‘ultra-low risk’ endometrioid adenocarcinomas. Methods We retrospectively identified International Federation Gynecology Obstetrics (FIGO) stage IA cancers who underwent primary surgery at our institution,...
Much correlative evidence indicates that the oxidative modification of protein by reactive oxygen species (ROS) is involved in normal aging as well pathogenesis neurodegenerative diseases such Alzheimer's disease. In this study, we explored antioxidative and neuroprotective effects a naphthoquinone, 2-methoxy-6-acetyl-7-methyljuglone (MAM), purified from dried rhizome POLYGONUM CUSPIDATUM (Chinese name Hu-Zhang). Pretreatments with MAM (24 h) were investigated for their protective against...
Acinic cell carcinoma (ACC) of the breast is a rare histological form triple-negative cancer (TNBC). Despite its unique histology, targeted sequencing analysis has failed to identify recurrent genetic alterations other than those found in common forms TNBC. Here we subjected three ACCs whole-exome and RNA determine whether they would harbour pathognomonic alteration.DNA samples from were RNA-sequencing, respectively. Somatic mutations, copy number alterations, mutational signatures fusion...
Aims Breast neuroendocrine tumours (NETs) constitute a rare histologic subtype of oestrogen receptor (ER)-positive breast cancer, and their definition according to the WHO classification was revised in 2019. NETs display transcriptomic similarities with mucinous carcinomas (MuBCs). Here, we sought compare repertoire genetic alterations MuBCs from other anatomic origins. Methods On review applying new criteria, 18 differentiation were reclassified as (n=10) or cancers (n=8). We reanalysed...
Background/Objectives: Brain metastases (BrMs) are a common complication of non-small cell lung cancer (NSCLC), present in up to 50% patients. While the treatment BrMs requires multidisciplinary approach with surgery, radiotherapy (RT), and systemic therapy, advances molecular sequencing have improved outcomes patients targetable mutations. With push towards characterization cancers, we evaluated by modality at our institution respect prioritizing RT targeted therapies. Methods: We...
Most polygenic scores (PS) are developed based on data from persons of European (EUR) ancestry and perform poorly in non-EUR populations. To improve the performance type 2 diabetes (T2D) PS under-studied African (AFR) Hispanic (HIS) ancestries, we created more comprehensive reference panels using “Tagging Iterative single nucleotide variant multiple populations” (TagIt) method aggregated genome-wide association study (GWAS) meta-analyses 5 major continental ancestries (360K cases, 1.8M...