Hereditary Breast Cancer in Selected Populations: Screening RECQL Gene in Ontario, Canada, and Exploring BRCA1/2 and PALB2 in the Caribbean
Year: 2018
Type: dissertation
Study design: Observational Study
Abstract: Hereditary breast cancer (i.e., cancer due to an inherited mutation) is imperfectly understood: while 5 to 10 % of breast cancer is hereditary, only 50 % of breast cancer susceptibility has been explained. Increased hereditary breast cancer understanding fosters high-risk patient identification, prevention, early diagnosis, and targeted treatment. To achieve increased knowledge of the hereditary breast cancer landscape, both generation of new information and implementation of prior knowledge in new settings are required. Accordingly, this project had two goals: Firstly, we screened RECQL, a new susceptibility gene candidate, among Ontario breast cancer patients. Secondly, we examined three established genes – namely, BRCA1, BRCA2, and PALB2 – among breast cancer patients in Trinidad and Tobago and Jamaica. Overall, we found that further work was needed to validate RECQL in a heterogeneous population, and that Caribbean screening and prevention could be ameliorated by the inclusion of certain susceptibility genes on gene panels.
Source: TSpace (University of Toronto)
Author: Humayun Ahmed
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funder: University of Toronto
OpenAlex ID: W2938214022