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  1. Tan KX, Lau SY, Danquah MK
    Biomed Pharmacother, 2018 May;101:996-1002.
    PMID: 29635910 DOI: 10.1016/j.biopha.2018.03.052
    Targeted drug delivery is a promising strategy to promote effective delivery of conventional and emerging pharmaceuticals. The emergence of aptamers as superior targeting ligands to direct active drug molecules specifically to desired malignant cells has created new opportunities to enhance disease therapies. The application of biodegradable polymers as delivery carriers to develop aptamer-navigated drug delivery system is a promising approach to effectively deliver desired drug dosages to target cells. This study reports the development of a layer-by-layer aptamer-mediated drug delivery system (DPAP) via a w/o/w double emulsion technique homogenized by ultrasonication or magnetic stirring. Experimental results showed no significant differences in the biophysical characteristics of DPAP nanoparticles generated using the two homogenization techniques. The DPAP formulation demonstrated a strong targeting performance and selectivity towards its target receptor molecules in the presence of non-targets. The DPAP formulation demonstrated a controlled and sustained drug release profile under the conditions of pH 7 and temperature 37 °C. Also, the drug release rate of DPAP formulation was successfully accelerated under an endosomal acidic condition of ∼pH 5.5, indicating the potential to enhance drug delivery within the endosomal micro-environment. The findings from this work are useful to understanding polymer-aptamer-drug relationship and their impact on developing effective targeted delivery systems.
  2. Razia S, Hadibarata T, Lau SY
    Bioprocess Biosyst Eng, 2023 Mar;46(3):341-358.
    PMID: 36602611 DOI: 10.1007/s00449-022-02844-3
    Acidophiles are a group of microorganisms that thrive in acidic environments where pH level is far below the neutral value 7.0. They belong to a larger family called extremophiles, which is a group that thrives in various extreme environmental conditions which are normally inhospitable to other organisms. Several human activities such as mining, construction and other industrial processes release highly acidic effluents and wastes into the environment. Those acidic wastes and wastewaters contain different types of pollutants such as heavy metals, radioactive, and organic, whose have adverse effects on human being as well as on other living organisms. To protect the whole ecosystem, those pollutants containing effluents or wastes must be clean properly before releasing into environment. Physicochemical cleanup processes under extremely acidic conditions are not always successful due to high cost and release of toxic byproducts. While in case of biological methods, except acidophiles, no other microorganisms cannot survive in highly acidic conditions. Therefore, acidophiles can be a good choice for remediation of different types of contaminants present in acidic conditions. In this review article, various roles of acidophilic microorganisms responsible for removing heavy metals and radioactive pollutants from acidic environments were discussed. Bioremediation of various acidic organic pollutants by using acidophiles was also studied. Overall, this review could be helpful to extend our knowledge as well as to do further relevant novel studies in the field of acidic pollutants remediation by applying acidophilic microorganisms.
  3. Wong LY, Lau SY, Pan S, Lam MK
    Chemosphere, 2022 Jan;287(Pt 2):132129.
    PMID: 34509009 DOI: 10.1016/j.chemosphere.2021.132129
    The suitability and efficacy of three-dimensional (3D) graphene, including its derivatives, have garnered widespread attention towards the development of novel, sustainable materials with ecological amenability. This is especially relevant towards its utilization as adsorbents of wastewater contaminants, such as heavy metals, dyes, and oil, which could be majorly attributed to its noteworthy physicochemical features, particularly elevated chemical and mechanical robustness, advanced permeability, as well as large specific surface area. In this review, we emphasize on the adsorptive elimination of oil particles from contaminated water. Specifically, we assess and collate recent literature on the conceptualization and designing stages of 3D graphene-based adsorbents (3DGBAs) towards oil adsorption, including their applications in either batch or continuous modes. In addition, we analytically evaluate the adsorption mechanism, including sorption sites, physical properties, surface chemistry of 3DGBA and interactions between the adsorbent and adsorbate involving the adsorptive removal of oil, as well as numerous effects of adsorption conditions on the adsorption performance, i.e. pH, temperature, initial concentration of oil contaminants and adsorbent dosage. Furthermore, we focus on the equilibrium isotherms and kinetic studies, in order to comprehend the oil elimination procedures. Lastly, we designate encouraging avenues and recommendations for a perpetual research thrust, and outline the associated future prospects and perspectives.
  4. Lau SY, Bee BC, Wong HS, Abdul Hameed A
    Case Rep Nephrol Dial, 2022;12(3):157-162.
    PMID: 36518359 DOI: 10.1159/000525177
    Butyricimonas virosa is a Gram-negative bacillus, which was first discovered in rat faeces in 2009. To date, only seven human infections have been reported in literature. To our knowledge, this is the first reported case of peritoneal dialysis (PD)-related peritonitis due to B. virosa. A 65-year-old Chinese man presented to the hospital with complaints of dizziness and vomiting. On admission, the drained peritoneal dialysate was cloudy. He was empirically treated as a case of PD-related peritonitis with intraperitoneal (IP) cefazolin, ceftazidime, and gentamicin. B. virosa was isolated from peritoneal fluid sample and the antibiotics were changed to IP imipenem and amikacin. Three weeks after completion of the antibiotics, the patient presented again with cloudy peritoneal dialysate and blood stained diarrhoea. IP imipenem and amikacin were recommenced. Multiple peritoneal dialysate samples were sent to the microbiology laboratory, but this time no microorganism was isolated. Colonoscopy examination revealed the presence of extensive rectosigmoidal ulcerations. IP imipenem was replaced with IP piperacillin-tazobactam when the patient developed imipenem-associated neurotoxicity at Day 9 of treatment. The patient recovered fully after completing 3 weeks of IP piperacillin-tazobactam and 2 weeks of IP amikacin. This is the first reported case of PD-related peritonitis due to B. virosa. Susceptibility data for B. virosa are scarce, but a 3-week course of IP piperacillin-tazobactam, imipenem, or meropenem could be potentially useful in treating PD-related peritonitis caused by this organism.
  5. Vani S, Lau SY, Lim BK, Omar SZ, Tan PC
    Int J Gynaecol Obstet, 2009 Jan;104(1):28-31.
    PMID: 18922525 DOI: 10.1016/j.ijgo.2008.08.014
    To evaluate the success of external cephalic version (ECV) using an adjusted bolus dose of intravenous salbutamol compared with no tocolysis.
  6. Omar B, Kurahashi H, Jeffery J, Yasohdha N, Lau SY, John MC, et al.
    Trop Biomed, 2007 Dec;24(2):99-100.
    PMID: 18209716
    Fannia pusio (Wiedemann) (Diptera: Fanniidae) is newly recorded from Malaysia. This record is based on 1male symbol 1female symbol from Sarawak, east Malaysia and 1male symbol 2female symbol from Selangor, peninsular Malaysia. It is included in the pusio group of Fannia wherein are included Fannia femoralis (Stein), Fannia howardi Malloch, Fannia trimaculata (Stein), Fannia leucosticta (Meigen) and Fannia punctiventris Malloch. The male of Fannia pusio is differentiated from other members of the group by the following features: hind femur with a swelling bearing a number of setae that are usually curled at tip; squamae creamy; tergite 1+2 broadly grey dusted at sides.
  7. Tan KX, Danquah MK, Sidhu A, Ongkudon CM, Lau SY
    Eur J Pharm Sci, 2017 Jan 01;96:8-19.
    PMID: 27593990 DOI: 10.1016/j.ejps.2016.08.061
    Cancer is a leading cause of global mortality. Whilst anticancer awareness programs have increased significantly over the years, scientific research into the development of efficient and specific drugs to target cancerous cells for enhanced therapeutic effects has not received much clinical success. Chemotherapeutic agents are incapable of acting specifically on cancerous cells, thus causing low therapeutic effects accompanied by toxicity to surrounding normal tissues. The search for smart, highly specific and efficient cancer treatments and delivery systems continues to be a significant research endeavor. Targeted cancer therapy is an evolving treatment approach with great promise in enhancing the efficacy of cancer therapies via the delivery of therapeutic agents specifically to and into desired tumor cells using viral or non-viral targeting elements. Viral oncotherapy is an advanced cancer therapy based on the use of oncolytic viruses (OV) as elements to specifically target, replicate and kill malignant cancer cells selectively without affecting surrounding healthy cells. Aptamers, on the other hand, are non-viral targeting elements that are single-stranded nucleic acids with high specificity, selectivity and binding affinity towards their cognate targets. Aptamers have emerged as a new class of bioaffinity targeting elements can be generated and molecularly engineered to selectively bind to diverse targets including proteins, cells and tissues. This article discusses, comparatively, the potentials and impacts of both viral and aptamer-mediated targeted cancer therapies in advancing conventional drug delivery systems through enhanced target specificity, therapeutic payload, bioavailability of the therapeutic agents at the target sites whilst minimizing systemic cytotoxicity. This article emphasizes on effective site-directed targeting mechanisms and efficacy issues that impact on clinical applications.
  8. Tan KX, Danquah MK, Sidhu A, Lau SY, Ongkudon CM
    Biotechnol Prog, 2018 01;34(1):249-261.
    PMID: 28699244 DOI: 10.1002/btpr.2524
    Targeted delivery of drug molecules to specific cells in mammalian systems demonstrates a great potential to enhance the efficacy of current pharmaceutical therapies. Conventional strategies for pharmaceutical delivery are often associated with poor therapeutic indices and high systemic cytotoxicity, and this result in poor disease suppression, low surviving rates, and potential contraindication of drug formulation. The emergence of aptamers has elicited new research interests into enhanced targeted drug delivery due to their unique characteristics as targeting elements. Aptamers can be engineered to bind to their cognate cellular targets with high affinity and specificity, and this is important to navigate active drug molecules and deliver sufficient dosage to targeted malignant cells. However, the targeting performance of aptamers can be impacted by several factors including endonuclease-mediated degradation, rapid renal filtration, biochemical complexation, and cell membrane electrostatic repulsion. This has subsequently led to the development of smart aptamer-immobilized biopolymer systems as delivery vehicles for controlled and sustained drug release to specific cells at effective therapeutic dosage and minimal systemic cytotoxicity. This article reports the synthesis and in vitro characterization of a novel multi-layer co-polymeric targeted drug delivery system based on drug-loaded PLGA-Aptamer-PEI (DPAP) formulation with a stage-wise delivery mechanism. A thrombin-specific DNA aptamer was used to develop the DPAP system while Bovine Serum Albumin (BSA) was used as a biopharmaceutical drug in the synthesis process by ultrasonication. Biophysical characterization of the DPAP system showed a spherical shaped particulate formulation with a unimodal particle size distribution of average size ∼0.685 µm and a zeta potential of +0.82 mV. The DPAP formulation showed a high encapsulation efficiency of 89.4 ± 3.6%, a loading capacity of 17.89 ± 0.72 mg BSA protein/100 mg PLGA polymeric particles, low cytotoxicity and a controlled drug release characteristics in 43 days. The results demonstrate a great promise in the development of DPAP formulation for enhanced in vivo cell targeting. © 2017 American Institute of Chemical Engineers Biotechnol. Prog., 34:249-261, 2018.
  9. Jeevanandam J, Kiew SF, Boakye-Ansah S, Lau SY, Barhoum A, Danquah MK, et al.
    Nanoscale, 2022 Feb 17;14(7):2534-2571.
    PMID: 35133391 DOI: 10.1039/d1nr08144f
    Green synthesis approaches are gaining significance as promising routes for the sustainable preparation of nanoparticles, offering reduced toxicity towards living organisms and the environment. Nanomaterials produced by green synthesis approaches can offer additional benefits, including reduced energy inputs and lower production costs than traditional synthesis, which bodes well for commercial-scale production. The biomolecules and phytochemicals extracted from microbes and plants, respectively, are active compounds that function as reducing and stabilizing agents for the green synthesis of nanoparticles. Microorganisms, such as bacteria, yeasts, fungi, and algae, have been used in nanomaterials' biological synthesis for some time. Furthermore, the use of plants or plant extracts for metal and metal-based hybrid nanoparticle synthesis represents a novel green synthesis approach that has attracted significant research interest. This review discusses various biosynthesis approaches via microbes and plants for the green preparation of metal and metal oxide nanoparticles and provides insights into the molecular aspects of the synthesis mechanisms and biomedical applications. The use of agriculture waste as a potential bioresource for nanoparticle synthesis and biomedical applications of biosynthesized nanoparticles is also discussed.
  10. Obayomi KS, Lau SY, Zahir A, Meunier L, Zhang J, Dada AO, et al.
    Chemosphere, 2023 Feb;313:137533.
    PMID: 36528163 DOI: 10.1016/j.chemosphere.2022.137533
    In this present study, silver (Ag) and titanium dioxide (TiO2) nanoparticles were successfully deposited on coconut shell-derived activated carbon (CSAC), to synthesize a novel nanocomposite (CSAC@AgNPs@TiO2NPs) for the adsorption of Methylene Blue (MB) dye from aqueous solution. The fabricated CSAC@AgNPs@TiO2NPs nanocomposite was analyzed by Scanning Electron Microscope (SEM), X-ray Diffraction (XRD), Fourier-Transform Infrared Spectroscopy (FTIR), Transmission Electron Microscope (TEM) equipped with Energy Dispersive X-ray spectroscopy (EDS) detector, X-ray Photoelectron Spectroscope (XPS), and Brunauer-Emmett-Teller (BET). The successful deposition of AgNPs and TiO2NPs on CSAC surface was revealed by the TEM/EDX, SEM, and XPS analysis. The mesopore structure of CSAC@AgNPs@TiO2NPs has a BET surface area of 301 m2/g. The batch adsorption studies were conducted and the influence of different parameters, i.e., adsorbent dose, adsorption time, initial dye concentration, pH and temperature were investigated. The nonlinear isotherm and kinetic modelling demonstrated that adsorption data were best fitted by Sips isotherm and pseudo-second-order models, respectively. The maximum adsorption capacity of MB onto CSAC@AgNPs@TiO2NPs by the Sips model was 184 mg/g. Thermodynamic results revealed that the adsorption was endothermic, spontaneous and physical in nature. CSAC@AgNPs@TiO2NPs revealed that MB absorption by CSAC@AgNPs@TiO2NPs was spontaneous and endothermic. The uptake capacity of MB was influenced significantly by the presence of competing ions including, NO3-, HCO3, Ca2+, and Na+. Repeated tests indicated that the CSAC@AgNPs@TiO2NPs can be regenerated and reused six times before being discarded. The primary separation mechanism between MB dye and CSAC@AgNPs@TiO2NPs was the electrostatic interaction. Thus, CSAC@AgNPs@TiO2NPs was an outstanding material, which displayed good applicability in real water with ≥ 97% removal of MB dye.
  11. Perwez M, Lau SY, Hussain D, Anboo S, Arshad M, Thakur P
    Colloids Surf B Biointerfaces, 2023 May;225:113241.
    PMID: 36893662 DOI: 10.1016/j.colsurfb.2023.113241
    Natural enzymes possess several drawbacks which limits their application in industries, wastewater remediation and biomedical field. Therefore, in recent years researchers have developed enzyme mimicking nanomaterials and enzymatic hybrid nanoflower which are alternatives of enzyme. Nanozymes and organic inorganic hybrid nanoflower have been developed which mimics natural enzymes functionalities such as diverse enzyme mimicking activities, enhanced catalytic activities, low cost, ease of preparation, stability and biocompatibility. Nanozymes include metal and metal oxide nanoparticles mimicking oxidases, peroxidases, superoxide dismutase and catalases while enzymatic and non-enzymatic biomolecules were used for preparing hybrid nanoflower. In this review nanozymes and hybrid nanoflower have been compared in terms of physiochemical properties, common synthetic routes, mechanism of action, modification, green synthesis and application in the field of disease diagnosis, imaging, environmental remediation and disease treatment. We also address the current challenges facing nanozyme and hybrid nanoflower research and the possible way to fulfil their potential in future.
  12. Obayomi KS, Lau SY, Danquah MK, Zhang J, Chiong T, Takeo M, et al.
    Materials (Basel), 2023 Jun 14;16(12).
    PMID: 37374562 DOI: 10.3390/ma16124379
    In recent years, the global population has increased significantly, resulting in elevated levels of pollution in waterways. Organic pollutants are a major source of water pollution in various parts of the world, with phenolic compounds being the most common hazardous pollutant. These compounds are released from industrial effluents, such as palm oil milling effluent (POME), and cause several environmental issues. Adsorption is known to be an efficient method for mitigating water contaminants, with the ability to eliminate phenolic contaminants even at low concentrations. Carbon-based materials have been reported to be effective composite adsorbents for phenol removal due to their excellent surface features and impressive sorption capability. However, the development of novel sorbents with higher specific sorption capabilities and faster contaminant removal rates is necessary. Graphene possesses exceptionally attractive chemical, thermal, mechanical, and optical properties, including higher chemical stability, thermal conductivity, current density, optical transmittance, and surface area. The unique features of graphene and its derivatives have gained significant attention in the application of sorbents for water decontamination. Recently, the emergence of graphene-based adsorbents with large surface areas and active surfaces has been proposed as a potential alternative to conventional sorbents. The aim of this article is to discuss novel synthesis approaches for producing graphene-based nanomaterials for the adsorptive uptake of organic pollutants from water, with a special focus on phenols associated with POME. Furthermore, this article explores adsorptive properties, experimental parameters for nanomaterial synthesis, isotherms and kinetic models, mechanisms of nanomaterial formation, and the ability of graphene-based materials as adsorbents of specific contaminants.
  13. Anboo S, Lau SY, Kansedo J, Yap PS, Hadibarata T, Kamaruddin AH
    Heliyon, 2024 Mar 30;10(6):e27348.
    PMID: 38500986 DOI: 10.1016/j.heliyon.2024.e27348
    This paper reports the synthesis of magnetic lipase/Cu3(PO4)2 hybrid nanoflowers via a rapid ultrasonication method. The enzyme immobilization and nanoflower growth mechanism can be described as the (a) Fe2+, Cu2+, and phosphate "binding", (b) metal phosphate crystals formation, (c) formation and growth of metal phosphate crystals to form plate-like structures, and (d) self-assembly of plate structures that forms a flower-like structure. Some factors contributing to the morphology of the hybrid nanoflowers structure includes the time and concentration of lipase were studied. The effect of temperature, pH, and duration on the enzyme immobilization yield were also studied. In addition, the strong magnetic property (9.73 emu g-1) of the nanoflowers resulted in higher retrievability and reusability after repeated usage. Furthermore, the catalytic activity of lipase/Cu3(PO4)2 hybrid nanoflowers was investigated and the ideal conditions were determined whereby, the maximum activity was calculated to be 1511 ± 44 U g-1, showing a catalytic enhancement of 89% in comparison to free lipase. The reusability study showed that, after 5 cycles, the magnetic lipase/Cu3(PO4)2 nanoflowers successfully retained 60% of its initial activity. From the results obtained, it is worth noting that, the magnetic lipase/Cu3(PO4)2 hybrid nanoflowers are highly efficient in industrial biocatalytic applications.
  14. Adeoye JB, Tan YH, Lau SY, Tan YY, Chiong T, Mubarak NM, et al.
    J Environ Manage, 2024 Feb 27;353:120170.
    PMID: 38308991 DOI: 10.1016/j.jenvman.2024.120170
    The stress of pharmaceutical and personal care products (PPCPs) discharging to water bodies and the environment due to increased industrialization has reduced the availability of clean water. This poses a potential health hazard to animals and human life because water contamination is a great issue to the climate, plants, humans, and aquatic habitats. Pharmaceutical compounds are quantified in concentrations ranging from ng/Lto μg/L in aquatic environments worldwide. According to (Alsubih et al., 2022), the concentrations of carbamazepine, sulfamethoxazole, Lutvastatin, ciprofloxacin, and lorazepam were 616-906 ng/L, 16,532-21635 ng/L, 694-2068 ng/L, 734-1178 ng/L, and 2742-3775 ng/L respectively. Protecting and preserving our environment must be well-driven by all sectors to sustain development. Various methods have been utilized to eliminate the emerging pollutants, such as adsorption and biological and advanced oxidation processes. These methods have their benefits and drawbacks in the removal of pharmaceuticals. Successful wastewater treatment can save the water bodies; integrating green initiatives into the main purposes of actor firms, combined with continually periodic awareness of the current and potential implications of environmental/water pollution, will play a major role in water conservation. This article reviews key publications on the adsorption, biological, and advanced oxidation processes used to remove pharmaceutical products from the aquatic environment. It also sheds light on the pharmaceutical adsorption capability of adsorption, biological and advanced oxidation methods, and their efficacy in pharmaceutical concentration removal. A research gap has been identified for researchers to explore in order to eliminate the problem associated with pharmaceutical wastes. Therefore, future study should focus on combining advanced oxidation and adsorption processes for an excellent way to eliminate pharmaceutical products, even at low concentrations. Biological processes should focus on ideal circumstances and microbial processes that enable the simultaneous removal of pharmaceutical compounds and the effects of diverse environments on removal efficiency.
  15. Lau YJ, Karri RR, Mubarak NM, Lau SY, Chua HB, Khalid M, et al.
    Environ Sci Pollut Res Int, 2020 Nov;27(32):40121-40134.
    PMID: 32656753 DOI: 10.1007/s11356-020-10045-2
    The feasibility and performance of Jicama peroxidase (JP) immobilized Buckypaper/polyvinyl alcohol (BP/PVA) membrane for methylene blue (MB) dye removal was investigated in a customized multi-stage filtration column under batch recycle mode. The effect of independent variables, such as influent flow rate, ratio of H2O2/MB dye concentration, and contact time on the dye removal efficiency, were investigated using response surface methodology (RSM). To capture the inherent characteristics and better predict the removal efficiency, a data-driven adaptive neuro-fuzzy inference system (ANFIS) is implemented. Results indicated that the optimum dye removal efficiency of 99.7% was achieved at a flow rate of 2 mL/min, 75:1 ratio of H2O2/dye concentration with contact time of 183 min. The model predictions of ANFIS are significantly good compared with RSM, thus resulting in R2 values of 0.9912 and 0.9775, respectively. The enzymatic kinetic parameters, Km and Vmax, were evaluated, which are 1.98 mg/L and 0.0219 mg/L/min, respectively. Results showed that JP-immobilized BP/PVA nanocomposite membrane can be promising and cost-effective biotechnology for the practical application in the treatment of industrial dye effluents.
  16. Maharajan MK, Rajiah K, Khoo SP, Chellappan DK, De Alwis R, Chui HC, et al.
    PLoS One, 2017;12(1):e0168863.
    PMID: 28060838 DOI: 10.1371/journal.pone.0168863
    OBJECTIVES: To evaluate the attitudes and readiness of students of healthcare professions towards interprofessional learning.

    METHODOLOGY: A cross-sectional study design was used. Two different scales were used to measure the readiness for and perception of interprofessional learning; these were the 'Readiness for Interprofessional Learning Scale' and the 'Interdisciplinary Education Perception Scale'. A convenience sampling method was employed. The sample was drawn from undergraduate students enrolled in years 1 to 5 of medical, dental, pharmacy and health sciences programme. Descriptive and inferential statistics were used to analyse the data.

    RESULTS: The overall response rate was 83%. The students mentioned that shared learning with other healthcare professional students will increase their ability to understand clinical problems. The students also mentioned that such shared learning will help them to communicate better with patients and other professionals. The students preferred to work with individuals from their own profession. Participants from medical, dental, pharmacy, and health sciences had a difference in opinion about 'negative professional identity', a domain of the Readiness for Interprofessional Learning Scale. Based on the different year of study of the students, 'team work and collaboration', 'negative professional identity' and 'roles and responsibility' were the Interdisciplinary Education Perception Scale domains where students had a difference in opinion.

    CONCLUSIONS: Attitudes and readiness towards interprofessional learning showed significant differences among students of various healthcare professions; these differences also depended on the students' year of study. Interprofessional learning should be incorporated in the curriculum of all healthcare professional programs, which may foster students to become competent healthcare providers and understand each profession's role.

  17. Yoon SYY, Ahmad Bashah NS, Wong SW, Mariapun S, Padmanabhan H, Hassan T, et al.
    Ann Oncol, 2018 Nov;29 Suppl 9:ix176.
    PMID: 32177935 DOI: 10.1093/annonc/mdy483.004
  18. Wen WX, Allen J, Lai KN, Mariapun S, Hasan SN, Ng PS, et al.
    J Med Genet, 2018 02;55(2):97-103.
    PMID: 28993434 DOI: 10.1136/jmedgenet-2017-104947
    BACKGROUND: Genetic testing for BRCA1 and BRCA2 is offered typically to selected women based on age of onset and family history of cancer. However, current internationally accepted genetic testing referral guidelines are built mostly on data from cancer genetics clinics in women of European descent. To evaluate the appropriateness of such guidelines in Asians, we have determined the prevalence of germ line variants in an unselected cohort of Asian patients with breast cancer and healthy controls.

    METHODS: Germ line DNA from a hospital-based study of 2575 unselected patients with breast cancer and 2809 healthy controls were subjected to amplicon-based targeted sequencing of exonic and proximal splice site junction regions of BRCA1 and BRCA2 using the Fluidigm Access Array system, with sequencing conducted on a Illumina HiSeq2500 platform. Variant calling was performed with GATK UnifiedGenotyper and were validated by Sanger sequencing.

    RESULTS: Fifty-five (2.1%) BRCA1 and 66 (2.6%) BRCA2 deleterious mutations were identified among patients with breast cancer and five (0.18%) BRCA1 and six (0.21%) BRCA2 mutations among controls. One thousand one hundred and eighty-six (46%) patients and 97 (80%) carriers fulfilled the National Comprehensive Cancer Network guidelines for genetic testing.

    CONCLUSION: Five per cent of unselected Asian patients with breast cancer carry deleterious variants in BRCA1 or BRCA2. While current referral guidelines identified the majority of carriers, one in two patients would be referred for genetic services. Given that such services are largely unavailable in majority of low-resource settings in Asia, our study highlights the need for more efficient guidelines to identify at-risk individuals in Asia.

  19. Yoon SY, Wong SW, Lim J, Ahmad S, Mariapun S, Padmanabhan H, et al.
    J Med Genet, 2022 Mar;59(3):220-229.
    PMID: 33526602 DOI: 10.1136/jmedgenet-2020-107416
    BACKGROUND: Identifying patients with BRCA mutations is clinically important to inform on the potential response to treatment and for risk management of patients and their relatives. However, traditional referral routes may not meet clinical needs, and therefore, mainstreaming cancer genetics has been shown to be effective in some high-income and high health-literacy settings. To date, no study has reported on the feasibility of mainstreaming in low-income and middle-income settings, where the service considerations and health literacy could detrimentally affect the feasibility of mainstreaming.

    METHODS: The Mainstreaming Genetic Counselling for Ovarian Cancer Patients (MaGiC) study is a prospective, two-arm observational study comparing oncologist-led and genetics-led counselling. This study included 790 multiethnic patients with ovarian cancer from 23 sites in Malaysia. We compared the impact of different method of delivery of genetic counselling on the uptake of genetic testing and assessed the feasibility, knowledge and satisfaction of patients with ovarian cancer.

    RESULTS: Oncologists were satisfied with the mainstreaming experience, with 95% indicating a desire to incorporate testing into their clinical practice. The uptake of genetic testing was similar in the mainstreaming and genetics arm (80% and 79%, respectively). Patient satisfaction was high, whereas decision conflict and psychological impact were low in both arms of the study. Notably, decisional conflict, although lower than threshold, was higher for the mainstreaming group compared with the genetics arm. Overall, 13.5% of patients had a pathogenic variant in BRCA1 or BRCA2, and there was no difference between psychosocial measures for carriers in both arms.

    CONCLUSION: The MaGiC study demonstrates that mainstreaming cancer genetics is feasible in low-resource and middle-resource Asian setting and increased coverage for genetic testing.

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