Genetic Determinants of Sporadic Breast Cancer in Sri Lankan Women

This is the first study to investigate the association of genetic polymorphisms in breast cancer-related genes and the haplotypes defined by them with the risk and clinicopathological profile of sporadic breast cancer among Sri Lankan postmenopausal women. Identifying genetic variations that could be used to detect women destined to develop postmenopausal breast cancer later in their lives, might provide useful predictive markers as well as identify molecular targets for preventive intervention. Such knowledge could improve risk reduction and screening strategies by targeting those most likely to benefit and facilitate both the primary and secondary prevention of the disease.
Identification and functional characterization of such genetic polymorphisms will increase the current insights into the pathophysiology of sporadic breast cancer and facilitate composing genetic risk profiles for sporadic breast cancer to improve early detection and to implement surveillance and/or risk-reducing measures to prevent this condition. Such genetic markers could potentially be used as a screening tool to identify individuals who would benefit from further conventional diagnostic assessment and follow-up.
In the present study, we carried out a comprehensive evaluation of common genetic variants associated with the risk and clinicopathological profile of sporadic breast cancer in Sri Lankan women. Using a case-control approach, we conducted association testing on 700 women using single variant and haplotype association testing strategies on 56 single nucleotide polymorphisms in 36 breast cancer-related genes.
The next phase of work in this study will include investigating the functional effects of a few selected variants with the strongest evidence for association with breast cancer. This research was supported by a PhD scholarship awarded to Dr Sirisena from the University of Colombo [AP/3/2/2015/PG/07] and the University Grants Commission, Sri Lanka [UGC/DRIC/PG/2015(i)/CMB/01]. Ethical Approval for the study was obtained from the Ethics Review Committee of the Faculty of Medicine, University of Colombo [EC-15-082].

Name of the Researchers

1. Dr Nirmala D. Sirisena
2. Dr Nilakshi Samaranayake
3. Prof Vajira H. W. Dissanayake

Related Publication & Communications

1. Nirmala D. Sirisena, Anchala Kuruppu, Adebowale Adeyemo, Nilaksha Neththikumara, Nilakshi Samaranayake, Vajira H. W. Dissanayake. Genetic determinants of sporadic breast cancer in a cohort of Sri Lankan postmenopausal women: The paper won the Korean Breast Cancer Foundation Scholarship award for outstanding oral presentation at the Global Breast Cancer Conference 2017 at Jeju Island, South Korea from 20th – 22nd April 2017 for the paper (Abstracted in the proceedings of the conference, p.112).
2. Sirisena UND, Adeyemo A, Kuruppu AI, Neththikumara N, Samaranayake N, Dissanayake VHW. Genetic determinants of sporadic breast cancer in Sri Lankan women. Paper selected for oral presentation at the 130th Anniversary International Medical Congress of the Sri Lanka Medical Association. Ceylon Medical Journal, Vol 62 Supplement 1, July 2017; p. 77.
3. Based on the preliminary findings obtained so far in the study, a research article titled “Genetic Determinants of Sporadic Breast Cancer in Sri Lankan Women” was submitted to BMC Cancer for publication. The paper is currently under peer review by the journal

Abstract of the Research