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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]