Displaying publications 61 - 79 of 79 in total

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  1. Pahlevan Sharif S, Lehto RH, Amiri M, Ahadzadeh AS, Sharif Nia H, Haghdoost AA, et al.
    Palliat Support Care, 2021 02;19(1):55-61.
    PMID: 32580795 DOI: 10.1017/S1478951520000383
    OBJECTIVE: This study investigated relationships among spirituality, hope, and overall quality of life in Muslim women with breast cancer in Malaysia.

    METHOD: A cross-sectional descriptive design with a convenience sample of 145 Malay patients was used. The mediating role of hope in the relationship between spirituality and quality of life as well as the moderating effect of education level on the spirituality hope link were examined.

    RESULTS: Participants with higher self-reported spirituality reported more hope (b = 6.345, p < 0.001) and higher levels of quality of life (b = 1.065, p < 0.001). Higher educational attainment weakened relationships between spirituality and hope (b = -1.460, p < 0.001).

    SIGNIFICANCE OF RESULTS: The role of advanced education in contributing to lessened hope in relation to spirituality emphasizes the importance of skilled and personalized spiritual counseling in the respective socio-cultural religious context.

  2. Sharif Nia H, Pahlevan Sharif S, Koocher GP, Yaghoobzadeh A, Haghdoost AA, Mar Win MT, et al.
    Omega (Westport), 2020 Feb;80(3):380-396.
    PMID: 28982272 DOI: 10.1177/0030222817733220
    This study aimed to evaluate the validity and reliability of the Persian version of Death Anxiety Scale-Extended (DAS-E). A total of 507 patients with end-stage renal disease completed the DAS-E. The factor structure of the scale was evaluated using exploratory factor analysis with an oblique rotation and confirmatory factor analysis. The content and construct validity of the DAS-E were assessed. Average variance extracted, maximum shared squared variance, and average shared squared variance were estimated to assess discriminant and convergent validity. Reliability was assessed using Cronbach's alpha coefficient (α = .839 and .831), composite reliability (CR = .845 and .832), Theta (θ = .893 and .867), and McDonald Omega (Ω = .796 and .743). The analysis indicated a two-factor solution. Reliability and discriminant validity of the factors was established. Findings revealed that the present scale was a valid and reliable instrument that can be used in assessment of death anxiety in Iranian patients with end-stage renal disease.
  3. Swarna Nantha Y, Kalasivan A, Ponnusamy Pillai M, Suppiah P, Md Sharif S, Krishnan SG, et al.
    Public Health Nutr, 2020 Feb;23(3):402-409.
    PMID: 31538554 DOI: 10.1017/S1368980019002684
    OBJECTIVE: The development of a second version of the Yale Food Addiction Scale (YFAS) coincides with the latest updates in the diagnosis of addiction as documented in the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders. The objective of the present study was to translate the YFAS 2.0 into the Malay language and test its psychometric properties in a primary-care population.

    DESIGN: Patients were assessed for food addiction utilizing the Malay YFAS 2.0. The participants were also assessed for eating disorder using the validated Malay Binge Eating Scale. The psychometric properties of the YFAS 2.0 were determined by analysing factor structure, overall item statistics, internal consistency and construct validity.

    SETTING: Between 2017 and 2018, participants were chosen from a regional primary-care clinic in the district of Seremban, Malaysia.

    PARTICIPANTS: Patients (n 382) from a regional primary-care clinic.

    RESULTS: The prevalence of food addiction was 5·0%. A two-factor structure of the YFAS was confirmed as the most optimal solution for the scale via confirmatory factor analysis. In both its diagnostic and symptom count version, the YFAS 2.0 had good internal consistency (Kuder-Richardson α > 0·80 and McDonald's ω > 0·9).

    CONCLUSIONS: We validated a psychometrically sound Malay version of the YFAS 2.0 in a primary-care population. Both diagnostic and symptom count versions of the scale had robust psychometric properties. The questionnaire can be used to develop health promotion strategies to detect food addiction tendencies in a general population.

  4. Md Sharif S, Yap WS, Fun WH, Yoon EL, Abd Razak NF, Sararaks S, et al.
    Nurs Rep, 2021 Oct 26;11(4):859-880.
    PMID: 34968274 DOI: 10.3390/nursrep11040080
    BACKGROUND: While the global maternal mortality ratio (MMR) shows a decreasing trend, there is room for improvement. Midwifery education has been under scrutiny to ensure that graduates acquire knowledge and skills relevant to the local context.

    OBJECTIVE: To review the basic professional midwifery qualification and pre-practice requirements in countries with lower MMR compared with Malaysia.

    METHODS: A rapid review of country-specific Ministry of Health and Midwifery Association websites and Advanced Google using standardised key words. English-language documents reporting the qualifications of midwives or other requirements to practise midwifery from countries with a lower MMR than Malaysia were included.

    RESULTS: Sixty-three documents from 35 countries were included. The minimum qualification required to become a midwife was a bachelor's degree. Most countries require registration or licensing to practise, and 35.5% have implemented preregistration national midwifery examinations. In addition, 13 countries require midwives to have nursing backgrounds.

    CONCLUSION: In countries achieving better maternal outcomes than Malaysia, midwifes often have a degree or higher qualification. As such, there is a need to reinvestigate and revise the midwifery qualification requirements in Malaysia.

  5. Mohd Hanid MH, Abd Rahim SZ, Gondro J, Sharif S, Al Bakri Abdullah MM, Zain AM, et al.
    Materials (Basel), 2021 Mar 10;14(6).
    PMID: 33802032 DOI: 10.3390/ma14061326
    It is quite challenging to control both quality and productivity of products produced using injection molding process. Although many previous researchers have used different types of optimisation approaches to obtain the best configuration of parameters setting to control the quality of the molded part, optimisation approaches in maximising the performance of cooling channels to enhance the process productivity by decreasing the mould cycle time remain lacking. In this study, optimisation approaches namely Response Surface Methodology (RSM), Genetic Algorithm (GA) and Glowworm Swarm Optimisation (GSO) were employed on front panel housing moulded using Acrylonitrile Butadiene Styrene (ABS). Each optimisation method was analysed for both straight drilled and Milled Groove Square Shape (MGSS) conformal cooling channel moulds. Results from experimental works showed that, the performance of MGSS conformal cooling channels could be enhanced by employing the optimisation approach. Therefore, this research provides useful scientific knowledge and an alternative solution for the plastic injection moulding industry to improve the quality of moulded parts in terms of deformation using the proposed optimisation approaches in the used of conformal cooling channels mould.
  6. Hussin R, Sharif S, Nabiałek M, Zamree Abd Rahim S, Khushairi MTM, Suhaimi MA, et al.
    Materials (Basel), 2021 Feb 01;14(3).
    PMID: 33535504 DOI: 10.3390/ma14030665
    The mold-making industry is currently facing several challenges, including new competitors in the market as well as the increasing demand for a low volume of precision moldings. The purpose of this research is to appraise a new formulation of Metal Epoxy Composite (MEC) materials as a mold insert. The fabrication of mold inserts using MEC provided commercial opportunities and an alternative rapid tooling method for injection molding application. It is hypothesized that the addition of filler particles such as brass and copper powders would be able to further increase mold performance such as compression strength and thermal properties, which are essential in the production of plastic parts for the new product development. This study involved four phases, which are epoxy matrix design, material properties characterization, mold design, and finally the fabrication of the mold insert. Epoxy resins filled with brass (EB) and copper (EC) powders were mixed separately into 10 wt% until 30 wt% of the mass composition ratio. Control factors such as degassing time, curing temperature, and mixing time to increase physical and mechanical properties were optimized using the Response Surface Method (RSM). The study provided optimum parameters for mixing epoxy resin with fillers, where the degassing time was found to be the critical factor with 35.91%, followed by curing temperature with 3.53% and mixing time with 2.08%. The mold inserts were fabricated for EB and EC at 30 wt% based on the optimization outcome from RSM and statistical ANOVA results. It was also revealed that the EC mold insert offers better cycle time compared to EB mold insert material.
  7. Pahlevan Sharif S, Amiri M, Allen KA, Sharif Nia H, Khoshnavay Fomani F, Hatef Matbue Y, et al.
    Health Qual Life Outcomes, 2021 Feb 15;19(1):57.
    PMID: 33588858 DOI: 10.1186/s12955-021-01695-y
    BACKGROUND: Attachment and support from family and friends are core to the experiences of ageing for older adults. The purpose of this study is to examine the relationships between attachment styles and hope, religiosity, and life satisfaction and provide new knowledge that may assist future planning for a rapidly ageing global population.

    METHODS: In this cross-sectional study, 504 Iranian older adult participants from Qazvin province were recruited between December 2015 and April 2016. They completed a questionnaire that included the Revised Adult Attachment Scale, the Life Satisfaction Index-Z, and the Herth Hope Index.

    RESULTS: Participants in the study had a mean age of 66.20 years (SD: 5.76) and most of them were women (57.5%). A mediation model testing the direct relationships between attachment, hope, religiosity, and life satisfaction showed a positive relationship between close attachment and religiosity (β = .226, p 

  8. Sharif Nia H, Chan YH, Froelicher ES, Pahlevan Sharif S, Yaghoobzadeh A, Jafari A, et al.
    Health Promot Perspect, 2019;9(2):123-130.
    PMID: 31249799 DOI: 10.15171/hpp.2019.17
    Background: Meteorological parameters and seasonal changes can play an important role in the occurrence of acute coronary syndrome (ACS). However, there is almost no evidence on a national level to suggest the associations between these variables and ACS in Iran. We aim to identify the meteorological parameters and seasonal changes in relationship to ACS. Methods: This retrospective cross-sectional study was conducted between 03/19/2015 to 03/18/2016 and used documents and records of patients with ACS in Mazandaran ProvinceHeart Center, Iran. The following definitive diagnostic criteria for ACS were used: (1) existence of cardiac enzymes (CK or CK-MB) above the normal range; (2) Greater than 1 mm ST-segment elevation or depression; (3) abnormal Q waves; and (4) manifestation of troponin enzyme in the blood. Data were collected daily, such as temperature (Celsius) changes, wind speed and its direction, rainfall, daily evaporation rate; number of sunny days, and relative humidity were provided by the Meteorological Organization of Iran. Results: A sample of 2,054 patients with ACS were recruited. The results indicated the highest ACS events from March to May. Generally, wind speed (18 PM) [IRR = 1.051 (95% CI: 1.019 to1.083), P=0.001], daily evaporation [IRR = 1.039 (95% CI: 1.003 to 1.077), P=0.032], daily maximum (P<0.001) and minimum (P=0.003) relative humidity was positively correlated withACS events. Also, negatively correlated variables were daily relative humidity (18 PM) [IRR =0.985 (95% CI: 0.978 to 0.992), P<0.001], and daily minimum temperature [IRR = 0.942 (95%CI: 0.927 to 0.958), P<0.001]. Conclusion: Climate changes were found to be significantly associated with ACS; especially from cold weather to hot weather in March, April and May. Further research is needed to fully understand the specific conditions and cold exposures.
  9. Amirzade-Iranaq MT, Omidi M, Bakhsheshi-Rad HR, Saberi A, Abazari S, Teymouri N, et al.
    Materials (Basel), 2023 Feb 25;16(5).
    PMID: 36903033 DOI: 10.3390/ma16051919
    This study attempts to synthesize MgZn/TiO2-MWCNTs composites with varying TiO2-MWCNT concentrations using mechanical alloying and a semi-powder metallurgy process coupled with spark plasma sintering. It also aims to investigate the mechanical, corrosion, and antibacterial properties of these composites. When compared to the MgZn composite, the microhardness and compressive strength of the MgZn/TiO2-MWCNTs composites were enhanced to 79 HV and 269 MPa, respectively. The results of cell culture and viability experiments revealed that incorporating TiO2-MWCNTs increased osteoblast proliferation and attachment and enhanced the biocompatibility of the TiO2-MWCNTs nanocomposite. It was observed that the corrosion resistance of the Mg-based composite was improved and the corrosion rate was reduced to about 2.1 mm/y with the addition of 10 wt% TiO2-1 wt% MWCNTs. In vitro testing for up to 14 days revealed a reduced degradation rate following the incorporation of TiO2-MWCNTs reinforcement into a MgZn matrix alloy. Antibacterial evaluations revealed that the composite had antibacterial activity, with an inhibition zone of 3.7 mm against Staphylococcus aureus. The MgZn/TiO2-MWCNTs composite structure has great potential for use in orthopedic fracture fixation devices.
  10. Sharif S, Arshad SS, Hair-Bejo M, Omar AR, Zeenathul NA, Fong LS, et al.
    Acta Vet Scand, 2010 Jan 06;52(1):1.
    PMID: 20053278 DOI: 10.1186/1751-0147-52-1
    The descriptive distribution and phylogeny of feline coronaviruses (FCoVs) were studied in cats suspected of having feline infectious peritonitis (FIP) in Malaysia. Ascitic fluids and/or biopsy samples were subjected to a reverse transcription polymerase chain reaction (RT-PCR) targeted for a conserved region of 3'untranslated region (3'UTR) of the FCoV genome. Eighty nine percent of the sampled animals were positive for the presence of FCoV. Among the FCoV positive cats, 80% of cats were males and 64% were below 2 years of age. The FCoV positive cases included 56% domestic short hair (DSH), 40% Persian, and 4% Siamese cats. The nucleotide sequences of 10 selected amplified products from FIP cases were determined. The sequence comparison revealed that the field isolates had 96% homology with a few point mutations. The extent of homology decreased to 93% when compared with reference strains. The overall branching pattern of phylogenetic tree showed two distinct clusters, where all Malaysian isolates fall into one main genetic cluster. These findings provided the first genetic information of FCoV in Malaysia.
  11. Jairoun AA, Al-Hemyari SS, Abdulla NM, El-Dahiyat F, Shahwan M, Hassan N, et al.
    J Infect Public Health, 2022 Oct;15(10):1065-1071.
    PMID: 36087548 DOI: 10.1016/j.jiph.2022.08.015
    BACKGROUND: The growing number of human monkeypox cases worldwide illustrates the importance of early detection, prevention, management and quick action from healthcare authorities. The WHO confirmed a hundred of Monkeypox cases worldwide and disclosed Monkdypox as a worldwide emergency situation OBJECTIVES: To assess the knowledge about human monkeypox' source, signs/symptoms, transmission, prevention and treatment among Al Ain university students in the UAE.

    METHODS: This descriptive cross-sectional study aimed to assess Al Ain University students' knowledge of Human Monkeypox. A validated questionnaire was distributed to students between lectures. The respondents' knowledge of human Monkeypox was assessed by 21 questions that examined the participants' knowledge of Monkeypox as follows: 5 items examined knowledge of the source, definition, and incubation time; 2items assessed the mechanism of transmission of human Monkeypox, 7 items assessed the signs and symptoms; 7 items assessed the preventative measures; and 6 items assessed the treatment modalities. A multivariate logistic regression model was used to identify the factors influencing respondents' knowledge of human Monkeypox among university students.

    RESULTS: A total of five hundred and fifty-eight (558) students participated in the study. The average knowledge score was 70.1%, with a 95% confidence interval (CI) of 68.9 - 71.3. Of the total participants, 111 (19.9%) had poor knowledge about human Monkeypox, 320 (57.3%) had moderate knowledge, and 127 (22.8%) had good knowledge. The results of the statistical modelling showed that Old age (OR 0.681; 95% CI 1.005-1.016), female gender (OR 1.26; 95% CI 0.813 -0.961), participants from medical colleges (OR 1.22; 95% CI 1.13 -1.32) having a history of human chickenpox infection (OR 2.6; 95% CI 2.3-2.9) and receiving information on human Monkeypox during education (OR 1.14; 95% CI 1.05-1.2) were strong determinants for good knowledge about human Monkeypox.

    CONCLUSION: knowledge of Monkeypox among the participants is relatively low, particularly regarding the epidemiology, symptoms and treatments. Therefore, increasing knowledge of Monkeypox will be key to enhancing the capacity to respond to human monkeypox cases and to relay pertinent data to a disease surveillance system.

  12. Sharif Nia H, Gorgulu O, Naghavi N, Robles-Bello MA, Sánchez-Teruel D, Khoshnavay Fomani F, et al.
    Front Psychiatry, 2021;12:754831.
    PMID: 34777060 DOI: 10.3389/fpsyt.2021.754831
    This study investigates the relationship between spiritual well-being, social support, and financial distress with depressive symptoms due to the COVID-19 pandemic. A path analysis was used to analyze data collected from 1,156 Iranian participants via an online survey. The results showed that spiritual well-being and social support were negatively related to depressive symptoms and financial distress. The impact of COVID-19 events showed negative associations with depressive symptoms. In addition, the link between spiritual well-being and financial distress with depressive symptoms was partially mediated by the impact of events.
  13. Sharif Nia H, Gorgulu O, Pahlevan Sharif S, Froelicher ES, Haghdoost AA, Golshani S, et al.
    Iran J Public Health, 2020 May;49(5):923-930.
    PMID: 32953680
    Background: The prevalence of Acute Myocardial Infarction (AMI) varies from region to region caused by seasonal climate changes and temperature variation. This study aimed to assess the relationship between changing meteorological conditions and incidence of AMI in Iran.

    Methods: This retrospective prevalence study was based on medical records of the heart center of Mazandaran Province on all patients diagnosed with AMI in Mazandaran, northern Iran between 2013 and 2015. Patients' sex and the day, month, year and time of hospital admission were extracted from patients' records. Moreover, the meteorological reports were gathered.

    Results: A statistically significant difference was found between the distributions of AMI cases across 12 months of the year (P < 0.01). Fuzzy clustering analysis using 16 different climatic variables showed that March, April, and May were in the same cluster together. The other 9 months were in different clusters.

    Conclusion: Significant increase in AMI was seen in March, April and May (cold to hot weather).

  14. Sharif Nia H, Marôco J, She L, Khoshnavay Fomani F, Rahmatpour P, Stepanovic Ilic I, et al.
    PLoS One, 2023;18(10):e0285315.
    PMID: 37792853 DOI: 10.1371/journal.pone.0285315
    The COVID-19 pandemic caused unprecedented changes to educational institutions, forcing their closure and a subsequent shift to online education to cater to student learning requirements. However, successful online learning depends on several factors and may also vary between countries. As such, this cross-sectional study sought to investigate how engagement of university students, a major driver of online learning, was influenced by course content, online interaction, student acceptance, and satisfaction with online learning, as well as self-efficacy across nine countries (China, India, Iran, Italy, Malaysia, Portugal, Serbia, Turkey, and the United Arab Emirates) during the COVID-19 pandemic. Using a questionnaire-based approach, data collected from 6,489 university students showed that student engagement was strongly linked to perception of the quality of the course content and online interactions (p < .001). The current study also indicated that online interactions are a major determinant of academic efficacy but only if mediated by engagement within the online learning context. A negative correlation between student engagement and satisfaction with online learning was found, demonstrating the importance of students being engaged behaviorally, emotionally, and cognitively to feel satisfied with learning. Academic efficacy and student satisfaction were explained by course content, online interaction, and online learning acceptance, being mediated by student engagement. Student satisfaction and, to a lesser degree academic efficacy, were also associated with online learning acceptance. Overall, the structural equation model was a good fit for the data collected from all nine countries (CFI = .947, TLI = .943; RMSEA = .068; SRMR = .048), despite differences in the percentage variations explained by each factor (no invariance), likely due to differences in levels of technology use, learning management systems, and the preparedness of teachers to migrate to full online instruction. Despite limitations, the results of this study highlight the most important factors affecting online learning, providing insight into potential approaches for improving student experiences in online learning environments.
  15. Robson RC, Thomas SM, Langlois ÉV, Mijumbi R, Kawooya I, Antony J, et al.
    Health Res Policy Syst, 2023 Jun 06;21(1):45.
    PMID: 37280697 DOI: 10.1186/s12961-023-00992-w
    BACKGROUND: Demand for rapid evidence-based syntheses to inform health policy and systems decision-making has increased worldwide, including in low- and middle-income countries (LMICs). To promote use of rapid syntheses in LMICs, the WHO's Alliance for Health Policy and Systems Research (AHPSR) created the Embedding Rapid Reviews in Health Systems Decision-Making (ERA) Initiative. Following a call for proposals, four LMICs were selected (Georgia, India, Malaysia and Zimbabwe) and supported for 1 year to embed rapid response platforms within a public institution with a health policy or systems decision-making mandate.

    METHODS: While the selected platforms had experience in health policy and systems research and evidence syntheses, platforms were less confident conducting rapid evidence syntheses. A technical assistance centre (TAC) was created from the outset to develop and lead a capacity-strengthening program for rapid syntheses, tailored to the platforms based on their original proposals and needs as assessed in a baseline questionnaire. The program included training in rapid synthesis methods, as well as generating synthesis demand, engaging knowledge users and ensuring knowledge uptake. Modalities included live training webinars, in-country workshops and support through phone, email and an online platform. LMICs provided regular updates on policy-makers' requests and the rapid products provided, as well as barriers, facilitators and impacts. Post-initiative, platforms were surveyed.

    RESULTS: Platforms provided rapid syntheses across a range of AHPSR themes, and successfully engaged national- and state-level policy-makers. Examples of substantial policy impact were observed, including for COVID-19. Although the post-initiative survey response rate was low, three quarters of those responding felt confident in their ability to conduct a rapid evidence synthesis. Lessons learned coalesced around three themes - the importance of context-specific expertise in conducting reviews, facilitating cross-platform learning, and planning for platform sustainability.

    CONCLUSIONS: The ERA initiative successfully established rapid response platforms in four LMICs. The short timeframe limited the number of rapid products produced, but there were examples of substantial impact and growing demand. We emphasize that LMICs can and should be involved not only in identifying and articulating needs but as co-designers in their own capacity-strengthening programs. More time is required to assess whether these platforms will be sustained for the long-term.

  16. Haidary AM, Saadaat R, Abdul-Ghafar J, Rahmani S, Noor S, Noor S, et al.
    EJHaem, 2022 Aug;3(3):1013-1017.
    PMID: 36051042 DOI: 10.1002/jha2.483
    Clonal evolution in acute leukemias is one of the most important factors that leads to therapeutic failure and disease relapse. Delay in therapeutic intervention is one of the reasons that leads toward clonal evolution. In this report, we present a case of acute lymphoblastic leukemia in which therapeutic delay resulted in clonal evolution that was detected by conventional karyotyping and was responsible for non-responsiveness of the disease to conventional chemotherapy. A 17-year-old boy presented with generalized body aches, rapidly progressive pallor and lethargy. Bone marrow analysis was consistent with the diagnosis of B-cell ALL. Karyotypic analysis revealed 46, XY male karyotype. The patient left the hospital due to financial reasons and after 40 days came back to the hospital. Repeated bone marrow analysis including cytogenetic studies revealed presence of three different clones of blast cells: one clone showed 46, XY with del(9p) and t (11;14), second clone showed 46, XY with del(7q) and del(9p), and the third clone showed 46, XY normal karyotype. The patient did not respond to chemotherapy and died within 1 week of induction chemotherapy (HyperCVAD-A). Timely diagnosis and institution of chemotherapy in acute leukemias patients is the key to prevent clonal evolution and thus resistance of the disease to therapeutic interventions.
  17. Kato Y, Liew BS, Sufianov AA, Rasulic L, Arnautovic KI, Dong VH, et al.
    PMID: 32922948 DOI: 10.1186/s41016-020-00194-1
    Globally, the discipline of neurosurgery has evolved remarkably fast. Despite being one of the latest medical specialties, which appeared only around hundred years ago, it has witnessed innovations in the aspects of diagnostics methods, macro and micro surgical techniques, and treatment modalities. Unfortunately, this development is not evenly distributed between developed and developing countries. The same is the case with neurosurgical education and training, which developed from only traditional apprentice programs in the past to more structured, competence-based programs with various teaching methods being utilized, in recent times. A similar gap can be observed between developed and developing counties when it comes to neurosurgical education. Fortunately, most of the scholars working in this field do understand the coherent relationship between neurosurgical education and neurosurgical practice. In context to this understanding, a symposium was organized during the World Federation of Neurological Surgeons (WFNS) Special World Congress Beijing 2019. This symposium was the brain child of Prof. Yoko Kato-one of the eminent leaders in neurosurgery and an inspiration for female neurosurgeons. Invited speakers from different continents presented the stages of development of neurosurgical education in their respective countries. This paper summarizes the outcome of these presentations, with particular emphasis on and the challenges faced by developing countries in terms of neurosurgical education and strategies to cope with these challenges.
  18. Kato Y, Liew BS, Sufianov AA, Rasulic L, Arnautovic KI, Dong VH, et al.
    PMID: 32925985 DOI: 10.1186/s41016-020-00209-x
    [This corrects the article DOI: 10.1186/s41016-020-00194-1.].
  19. Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, et al.
    Commun Biol, 2022 Oct 06;5(1):1061.
    PMID: 36203093 DOI: 10.1038/s42003-022-03978-6
    The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.
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