Siti Nur Idayu Binti Haji Matusin

PhD Title: Mutational analysis of BRCA1, BRCA2, TP53 and PALB2 in breast cancer patients with or without family history of cancers

Supervisor(s): Dr Mas Rina Wati Haji Abdul Hamid and Dr Lu Zen Huat

About the PhD:

Breast cancer is the commonest cancer affecting women worldwide. It was amongst the top leading cause of cancer mortality in women in Brunei Darussalam. Approximately 5-10% of all breast cancer is hereditary, and 10-20% of breast cancer cases are familial, while the rest occur sporadically. Familial breast cancer refers to women who have two or more first- or second-degree relatives with breast cancer, while hereditary breast cancer refers to individuals inheriting mutations in certain parts of their gene which predispose them to breast cancer. Individuals possessing mutations in the high-risk genes associated with breast cancer, such as TP53, BRCA1 and BRCA2 have a 50-70% lifetime risk of developing breast cancer and up to 40% risk of ovarian cancer. The importance of the knowledge in genetic risk of developing breast and/or ovarian cancer is increasing. Genetic testing enables us to understand the nature of a disease, to help towards a better treatment plan and prognosis, to estimate the percentage of lifetime risk, as well as, to give information about penetrance of the disease.

The aim of this PhD project is to screen for mutations in BRCA1, BRCA2, TP53 and PALB2 in breast cancer patients in Brunei Darussalam from years 2007 to 2015. This study will help us in identifying the occurrence, prevalence and variation of BRCA1, BRCA2, TP53 and PALB2 mutations in  the Brunei population, and also in identifying high-risk individuals. The findings may help clinicians to better-informed management of breast cancer patients and their families. Germline mutations found in a family member will prompt the counselling of the risk of breast or ovarian cancer and the genetic testing on other family members due to the high familial risk.

published 01/02/2018