Hereditary breast and ovarian Cancers in Hong Kong

Abstract

Mutations due to hereditary related genes such as BRCA1, BRCA2, TP53, PTEN and PALB2 confer greater risk of developing breast cancer and for BRCA mutations, and where relevant, also ovarian cancer. The risk assessment based on genetic testing allows options of high risk surveillance, prevention and may now also guide use of specific therapies for treatment such as targeted therapies and use of platinum base chemotherapy. There are known ethnic variations in mutation types, prevalence. The choice of management, once an individual has been found to carry the BRCA mutation may also vary. Moreover the availability of genetic testing, method of testing such as the transition into the use of Next Generation Sequencing techniques may also vary in different parts of the world and still have some limitations in some Areas in Asia. The Hong Kong Hereditary Breast Cancer Family Registry was establishment in 2007. High risk women based on their age and family history were recruited from both public and private hospitals and clinics of Hong Kong since March 2007. Medical information was prospectively collected from the patients and medical records. Epidemiological surveys, choice of management questionnaires were received from each individual. Local data of the Hong Kong Hereditary Breast Cancer Registry and its collaborative work with University of Hong Kong will be shared.