A case control study was carried out to investigate associations between breast cancer risk, antioxidant status and oxidative stress among women in Klang Valley and Selangor. A total of 57 newly diagnosed cases aged 30 to 66 years old participated and were matched for age and ethnicity with 139 controls with no diagnosis of cancer or other chronic diseases. An interview based questionnaire designed to collect information on demographic and socioeconomic status, as well as reproductive, medical and dietary history was used. Anthropometric measurements including weight, height, waist and hip circumference were made and a 10 ml fasting venous blood sample was taken for glucose testing and analysis of plasma vitamin antioxidants and malondialdehyde. Hair and toenail samples were taken for selenium analysis. Results showed that the mean intake of vitamin A, vitamin E and selenium among cases (606.8 +/- 334.8 microg/d, 6.1 +/- 2.4 g/d, 56.9 +/- 16.2 microg/d) was lower than controls (724.7 +/- 414 microg/day, 6.9 +/- 3.0 g/d, 60.8 +/- 17.5 microg/d, respectively) (p<0.05 for all parameters). A similar trend was noted for plasma vitamin A and E and also selenium in hair and toenails. Poor antioxidant status as indicated by low plasma vitamin A (<284.3 microg/l or <366.3 microg/l) increased risk of breast cancer by approximately two fold, whilst low plasma vitamin E (<2.5 mg/dl, <2.8 mg/dl and <3.1 mg/dl) increased the risk by two to three fold [Adjusted OR 2.97 (95% CI 1.38-3.48), 2.32 (95% CI 1.07-2.41) and 2.12 (95% CI 1.00-4.21)]. Cases had a greater level of malondialdehyde 4.4 +/- 1.1 mmol/g protein), an indicator of oxidative stress, as compared to controls (3.2 +/- 1.7 mmol/g protein) (p<0.05). A high level of MDA (> or = 4.8 mmol/g protein) was associated with breast cancer [Adjusted OR 6.82 (95% CI 1.95-23.9)]. It is concluded that a poor antioxidant status and high oxidative stress are associated with breast cancer risk. Thus, it is essential for Malaysian women to obtain a good antioxidant status by consuming a diet rich in vitamins A and E as well as selenium and adopt healthy behaviour to reduce oxidative stress in order to prevent breast cancer.
Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322× to 798×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism.
The Professional Society of Genetic Counselors in Asia (PSGCA) was recently established as a special interest group of the Asia Pacific Society of Human Genetics. Fostering partnerships across the globe, the PSGCA's vision is to be the lead organization that advances and mainstreams the genetic counseling profession in Asia and ensures individuals have access to genetic counseling services. Its mission is to promote quality genetic counseling services in the region by enhancing practice and curricular standards, research and continuing education. The PSGCA was formally launched during the Genetic Counseling Pre-Conference Workshop held at the 11th Asia-Pacific Conference on Human Genetics in Hanoi, Viet Nam, September 16, 2015. The pre-conference workshop provided an opportunity for medical geneticists and genetic counselors from across 10 Asia Pacific countries to learn about the varied genetic counseling practices and strategies for genetic counseling training. This paper provides an overview of the current status and challenges in these countries, and proposed course of unified actions for the future of the genetic counseling profession.