Phenotypic and genotypic epidemiological studies of Hong Kong Chinese patients with hereditary breast cancer

• Main Authors: Kwong, Ava., 鄺靄慧.
• Other Authors: Poon, RTP, Tam, PKH
• Format: Doctoral or Postdoctoral Thesis
• Language: English
• Published: The University of Hong Kong (Pokfulam, Hong Kong) 2013
• Subjects: Breast - Cancer - Patients - China - Hong Kong; Breast - Cancer - Genetic aspects; Iceland
• Online Access: https://doi.org/10.5353/th_b5053400; http://hdl.handle.net/10722/188281

Breast cancer is the most common cancer in women in most part of the world. Although there are multiple risk factors which have been reported to be related to breast factors, by far one of the highest risk of breast cancer is the inheritance of the BRCA1 and BRCA2 cancer susceptibility genes. The lifetime risk of breast cancer can be as high as 60-80% for BRCA mutation carriers. As the breast cancer epidemiology and genetic predisposition is increasingly understood, it transpires that ethnic differences exist. Although variations of genetic factors may play a role, the reasons for these differences remain unclear. Most published data are Caucasian based and there are limited publications on hereditary breast cancer in Asians available to date. This thesis hypothesizes that due to the known differences in genetic predisposition in different ethnic groups, it is likely that the mutation spectrum of BRCA mutations and breast cancer characteristics of Hong Kong Chinese, a relatively unexplored cohort, will differ to that of Caucasians. Moreover, the ancestors of local Hong Kong population migrated from Mainland China of which majority were from Southern China. They then remained in Hong Kong and populated and hence similar to smaller countries such as Iceland and Poland where founder mutations are identified, it is likely that a founder mutation will be present. Lastly due to different cultural differences and availability of screening facilities, management options of those found to carry the BRCA mutation may differ to that of other countries. The aims of this study are as follows 1) Perform a comprehensive genetic and phenotypic analysis using Full Gene Sequencing and Multiplex ligation-dependent probe amplification (MLPA) testing of Hong Kong Chinese cohort or breast cancer patients/families who are clinically high risk and to develop a registry to collect data related to this study. 2) To identify the spectrum of BRCA mutation in Hong Kong. 3) To report, any novel mutations, founder mutations, large ...