Anusha AMALIMatthew Khine MYINTSabna ZIHARANG Kah Yee
Our group focuses on understanding breast cancer susceptibility and the development of blood-based tests for the early detection of breast cancer. Our key findings are as follows:
• Identified new breast cancer risk loci using a novel, targeted, next-generationsequencing strategy (Cancer Res, 2017;77:5428–5437)
• Developed polygenic risk score models for the prediction of breast cancer risk(Oncotarget. 2018;9:12796–12804)
• Performed mutational analysis using a 25-gene panel of breast cancer predisposition genes for the largest Asian series of cases at the time (Genom Med. 2016;1:15003)
• Identified PALB2 mutations in our Singaporean patients and recommended that PALB2 be included in genetic testing for individuals eligible for BRCA1 and BRCA2 testing (N Engl J Med. 2014;371:1650–1652 and J Clin Oncol. 2020; 38:674-685)
• Reported the identification of a BRCA1 founder mutation among breast cancerpatients of Malay ethnicity (Hum Mut. 2003;22:178)
• Identified the first family in Singapore with Li-Fraumeni syndrome (Clin Genet.2009;75:294–297)
• Developed a comprehensive screening strategy for improved BRCA1 and BRCA2 mutation screening for patients with breast and/or ovarian cancer (Clin Genet, 2006;70:80–82; Cancer Epidemiol Biomarkers Prev, 2007;16:2276–2284; Amino Acids, 2008;35:615–626)
• Recommended that screening for the CHEK2*1100delC mutation in Asian women with a family history of breast cancer is unwarranted, in contrast to recommendations for such screening in Northern or Eastern European women with a similar history (J Clin Oncol. 2008;26:2419)
• Identified circulating microRNA signatures for breast cancer (Cancers (Basel) 2019;11(12) and Clin Cancer Res. 2013;19:4477–4487) (Figure 1)
Our research work is supported by grants from the National Medical Research Council (NMRC) of Singapore, the National Cancer Centre Singapore (Centre grant and NCC Research Fund), and the Industry Alignment Fund.
Figure 1: Receiver operating characteristics (ROC) curves for an eight-miRNA panel which was significantly differentially expressed between malignant and benign breast lesions among women with abnormal screening mammograms (Cancers (Basel) (2019) 11(12), 1872).
1. X Yang, G Leslie,…. P Ang, …..ASG Lee, ….DF Easton, WD Foulkes, AC Antoniou, M Tischkowitz. Cancer risks associated with germline PALB2 pathogenic variants - an international study of 524 families. J Clin Oncol. 2020; 38:674-685.
2. SY Loke, P Munusamy, GL Koh, CHT Chan, P Madhukumar, JL Thung, BKT Tan, KW Ong, WS Yong, YR Sim, CL Oey, SZ Lim, PMY Chan, JTS Ho, JBK Khoo, JSL Wong, CH Thng, BK Chong, EY Tan, VKM Tan, ASG Lee *. A circulating miRNA signature for stratification of breast lesions among women with abnormal screening mammograms. Cancers (Basel) 2019; 11(12):1872.
3. Chan CHT, Munusamy P, Loke SY, et al. Evaluation of three polygenic risk score models for the prediction of breast cancer risk in Singapore Chinese. Oncotarget. 2018; 9:12796–12804.
4. Chan CHT, Munusamy P, Loke SY, et al. Identification of novel breast cancer risk loci. Cancer Res. 2017; 77:5428–5437.
5. Wong ESY, Shekar S, Met-Domestici M, et al. Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore. NPJ Genom Med. 2016; 1:15003.
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