Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
COPE Diagnostic and therapeutic insights into breast cancer from morphological and molecular profiling of breast tumours in patients with germline p53 mutations (Li Fraumeni Syndrome) LFS is a rare but devastating cancer predisposition syndrome characterised by a germline (hereditary) mutation in the p53 gene. This mutation causes a much higher risk of malignancies at very young ages. Typically malignancies include soft tissue sarcoma, breast, bone, adrenal and brain cancers. Inheritance of a TP53 mutation in females leads to a very high risk of breast cancer at exceptionally young ages (average age at diagnosis is less than 33 years) and breast cancer is one of the most frequently diagnosed cancers in this condition. This project aims to study a cohort of early onset breast cancer cases arising in patients with a known p53 mutation. The aim is to determine if there are typical characteristics that these breast cancers exhibit when compared to other breast cancers from the general population. Patients with p53 mutations are also potentially more susceptible to the increase in risk of developing further cancers associated with both radiotherapy and chemotherapy (late toxic effects of treatment). For these individuals the risk/benefit ratio of conventional cytotoxic cancer treatments is potentially much higher than for many other breast cancer patients. Thus, the recognition of typical characteristics of these cancers in patients would be very valuable to oncologists, and would improve targeted genetic counselling and testing. Information from this study will also provide valuable information on the behaviour of aggressive breast cancers that occur in the general population, and further molecular studies may allow new treatments to be developed in the future. CSP Ref : 29215 Principle Investigator : Kai Ren Ong Email : [email protected]