1.Determination of the 99th percentile upper reference limit for high-sensitivity cardiac troponin I in Malaysian population
Say Min Lim ; Subashini C Thambiah ; Siti Yazmin Zahari Sham ; Roslina Omar ; Zarida Hambali ; Intan Nureslyna Samsudin
The Malaysian Journal of Pathology 2017;39(2):135-140
Introduction of high-sensitivity cardiac troponin I (hscTn I) assays for routine clinical use in
Malaysia requires determination of the 99th percentile upper reference limit (URL) for each assay to
suit local context. Hence, this study aimed to determine the 99th percentile URL for hscTn I in the
Malaysian population. A total of 250 (120 males and 130 females) healthy Malaysian blood donors
aged 18 to 60 years old were recruited. Blood samples for hscTn I were measured using Abbott
Diagnostics hscTn I assay on Architect i2000sr analyser. The 99th percentile was calculated using
a non-parametric method and gender specific results were compared. The 99th percentile URL for
hscTn I for the overall population was 23.7 ng/L, with gender specific values being 29.9 ng/L and
18.6 ng/L for male and female, respectively. Females had significantly lower hscTn I compared to
males. This study confirms the use of gender specific 99th percentile URL for hscTn I for clinical
use in a multi-ethnic Malaysian population.
2.MUTATION PROFILE OF BREAST CANCER IN MALAYSIAN PATIENTS
Farahnaz Amini ; Fu Hou Wong ; Edmond Siah Chye Ng ; Roslina Omar ; Shafinaz Mohd Rejab ; Izyan Wajiha Mohd Noor ; Baizurah Mohd. Hussain
Journal of University of Malaya Medical Centre 2021;24(1):37-44
Background:
Breast cancer (BC) is the most common cancer in women globally. In low- and middle-income countries, the use of appropriate breast cancer genetics services for screening and personalized treatments is severely lacking. This review is aimed to assess and summarize the reported mutation profiles of Malaysian BC patients.
Methods:
A literature search was performed in PubMed and Google Scholar from 2002 to 2019 using a set of keywords and MESH terms.
Results:
Data from 14 eligible studies are presented here. A total of 28 genes were studied in Malaysian BC patients in which 445 genetic alterations (229 deleterious, 209 variants with unknown clinical significance (VUC), and seven protective variants) have been reported, with 73 being novel (16% novel). The frequency ranged from 0.2% to 76% for VUC and 2.1 to 15% for deleterious variations. Only BRCA1, BRCA2, PALB2, APOBEC3B, and P53 have been associated with BC risk in Malaysian patients. Nine of these studies were conducted using the overlapped source of patients, which may limit the generalizability of the findings to the whole population of Malaysia.
Conclusion
Information on the genetic basis of BC in the Malaysian population is scant. Multidisciplinary efforts with appropriate sample selection techniques and study design with multicenter collaboration are needed to address this issue. Out of thirteen high- and moderated-penetrance pathogenic mutations for BC, only five have been linked to Malaysians’ BC susceptibility. The findings from this review is valuable for decision-makers, researchers, and physicians, to enhance the research plans and utility of genetic services for screening and prevention.
Breast Neoplasms
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