A5051414906- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Cancer, Hypoxia, and Metabolism
- Epigenetics and DNA Methylation
- COVID-19 and healthcare impacts
- Genetics and Neurodevelopmental Disorders
- Genetics, Bioinformatics, and Biomedical Research
- PARP inhibition in cancer therapy
- Genomic variations and chromosomal abnormalities
- Health Systems, Economic Evaluations, Quality of Life
- SARS-CoV-2 and COVID-19 Research
- Adrenal and Paraganglionic Tumors
- Cancer-related Molecular Pathways
- Ovarian cancer diagnosis and treatment
- Prenatal Screening and Diagnostics
- Immune Cell Function and Interaction
- Molecular Biology Techniques and Applications
- T-cell and B-cell Immunology
- Cancer survivorship and care
- Genetic factors in colorectal cancer
- Neuroblastoma Research and Treatments
- Ubiquitin and proteasome pathways
National Cancer Centre Singapore
2016-2025
Nanyang Technological University
2025
National University of Singapore
2015-2018
The coronavirus disease 2019 (COVID-19) pandemic has had a global impact, and Singapore seen 33,000 confirmed cases. Patients with cancer, their caregivers, health care workers (HCWs) need to balance the challenges associated COVID-19 while ensuring that cancer is not compromised. This study aimed evaluate psychological effect of on these groups prevalence burnout among HCWs.
Abstract Associations of sarcoma with inherited cancer syndromes implicate genetic predisposition in development. However, due to the apparently sporadic nature sarcomas, little attention has been paid role susceptibility sarcoma. To address this, we performed targeted-genomic sequencing investigate prevalence germline mutations known cancer-associated genes within an Asian cohort patients younger than 50 years old. We observed 13.6% (n = 9) amongst 66 harbour at least one predicted...
PURPOSE Genetic testing has clinical utility in the management of patients with hereditary cancer syndromes. However, increased likelihood encountering a variant uncertain significance individuals non-European descent such as Asians may be challenging to both clinicians and patients. This study aims evaluate impact reclassification an Asian country variants reported predisposition genes. METHODS A retrospective analysis seen at Cancer Genetics Service National Centre Singapore between...
Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness test. We report findings a pilot study that evaluates how different subsidy schemes impact uptake and total cost management.We included all patients who attended the Cancer Genetics Service at National Centre Singapore (January 2014-May 2016). Two schemes, blanket scheme (100% eligible patients), varied (patients received 50%-100% dependent on financial status) were compared....
PURPOSE Surveillance improves patient outcomes by diagnosing cancer at an early and curable stage for individuals with predisposition syndromes (CPS). Whole-body magnetic resonance imaging (WB-MRI) provides head-to-thigh in one sitting without radiation exposure is recommended increased risk of multisite tumors or cancers. In this study, we evaluated the diagnostic performance WB-MRI as a screening tool Li-Fraumeni syndrome (LFS), constitutional mismatch repair deficiency syndrome,...
Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel-Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles individual mutations. To describe neoplastic carriers pathogenic likely VHL germline mutations, our observational study recruited 1350 participants from 40 centers worldwide. 432 different mutations were observed, with p.Asn78Ser,...
PURPOSE Identifying patients with hereditary cancer syndromes through genetics referral enhances early detection and reduces healthcare costs. Despite potential benefits, rates globally, including Singapore, remain low. This study investigates the real-world of referrals in eligible at Singapore’s largest cluster using Electronic Health Records. METHODS Referral criteria for were based on international guidelines. The institution’s data repository was queried relevant diagnosis codes from...
Abstract Identifying patients with hereditary cancer syndromes through genetics referral enhances early detection and reduces healthcare costs. Despite potential benefits, rates globally, including Singapore, remain low. This study investigates the real-world of referrals in eligible at Singapore’s largest cluster using Electronic Health Records. Referral criteria for were based on international guidelines. The institution’s data repository was queried relevant diagnosis codes from 2017 to...
Growing evidence suggests a role for cancer susceptibility genes such as
BackgroundClinical management of Asian BRCA1 and BRCA2 pathogenic variants (PV) carriers remains challenging due to imprecise age-specific breast (BC) ovarian cancer (OC) risks estimates. We aimed refine these estimates using six multi-ethnic studies in Asia.MethodsData were collected on 271 301 families from Malaysia Singapore, ascertained through population/hospital-based case-series (88%) genetic clinics (12%). Age-specific estimated a modified segregation analysis method, adjusted for...
Assessment of cancer predisposition syndromes (CPS) in childhood tumours is challenging to paediatric oncologists due inconsistent recognizable clinical phenotypes and family histories, especially cohorts with unknown prevalence germline mutations. Screening checklists were developed facilitate CPS detection patients; however, their value have yet been validated. Our study aims assess the utility screening validated by genetic sequencing an Asian cohort tumours. We evaluated 102 patients...
Abstract Due to a lack of ancestry‐matched, functional, and segregation data, Asians have higher rate receiving variant uncertain significance (VUS) result following panel testing. Managing VUS results presents challenges, as it often leads increased anxiety distress among cancer patients undergoing genetic This exploratory study aims investigate the experience Asian upon result. A qualitative, semi‐structured interview was conducted, involving who had received through Cancer Genetics...
Li-Fraumeni syndrome (LFS) is a rare cancer predisposition usually associated with TP53 germline alterations. Its genetic basis in wild-type pedigrees less understood. Using whole-genome sequencing, we identified hemizygous deletion ablating CDKN2A-CDKN2B patient presenting high-grade sarcoma, laryngeal squamous cell carcinoma and family history suggestive of LFS. Patient-derived cells demonstrated reduced basal gene protein expression the CDKN2A-encoded tumour suppressors p14ARF p16INK4A...
<title>Abstract</title> Hereditary SDHB-mutant pheochromocytomas (PC) and paragangliomas (PG) are rare tumours with a high propensity to metastasize although their clinical behaviour is unpredictable. To characterize the genomic landscape of these identify metastasis biomarkers, we performed multi-omic analysis on 94 from 79 patients using seven molecular methods. Sympathetic (chromaffin cell) parasympathetic (non-chromaffin PCPG had distinct profiles reflecting cell-of-origin biochemical...
Germline pathogenic variants in BRCA1/2 account for one-third of familial breast cancers. The majority BRCA1 function requires heterodimerization with BARD1. In contrast to , BARD1 is a low-penetrance gene an unclear clinical relevance, partly because limited functional evidence. Using patient-derived lymphoblastoid cells, we functionally characterized two (c.1833dupT, c.2099delG) and three uncertain significance (VUSs) (c.73G>C, c.1217G>A, c.1918C>A). Three these patients had...
Abstract Background Fanconi anemia (FA) is a rare genetic disorder associated with hematological disorders and solid tumor predisposition. Owing to phenotypic heterogeneity, some patients remain undetected until adulthood, usually following cancer diagnoses. The uneven prevalence of FA cases different underlying gene mutations worldwide suggests variable distribution across populations. Here, we aim assess the spectrum FA-associated genes populations varying ancestries explore potential...
Abstract Gitelman syndrome is a rare, recessively inherited disease characterized by chronic hypokalemia and hypomagnesemia as result of defective electrolyte co-transport at the level distal convoluted tubule kidney. Here, we present first report patient with who developed multiple neoplasia including colorectal polyposis, synchronous cancers, recurrent breast fibroadenomata desmoid tumor. Whole-exome sequencing confirmed germline compound heterozygous mutations c.179C > T c.1326C G in...
Abstract We have identified six patients harbouring distinct germline BAP1 mutations. In this study, we functionally characterise known pathogenic and likely benign variants out of these to aid in the evaluation classification unknown variants. found that tend encode truncated proteins, show diminished expression epithelial-mesenchymal transition (EMT) markers, are localised cytosol reduced deubiquitinase capabilities. functional assays useful for variant curation may be added American...
Abstract Background: The majority of hereditary breast and ovarian cancers (HBOC) harbor defects in the homologous recombination (HR) DNA repair pathway, such as BRCA1 BRCA2 mutations, which may influence response to immune checkpoint blockade (ICB) therapy. Recent clinical trials combining poly-ADP ribose inhibitors ICB therapy advanced cancer have shown promising results. This Asian cohort study set out determine if phenotype, specifically PD-1/PD-L1 axis, was associated with germline BRCA...