Gene testing - Breast Cancer 

There is much interest in genetic testing to identify genetic mutations (pathogenic variants) that are associated with breast cancer risk. The most well known genes are BRCA1 (Angelina Jolie and Christina Applegate had a pathogenic variant in BRCA1), BRCA2 (Michelle Heaton from Liberty X had a pathogenic variant in BRCA2). 
Anyone considering a genetic test should have access to appropriate genetic counselling by an expert who understands genetic assessment, breast cancer risk, the multiple treatments for breast cancer and risk reducing strategies including a “double mastectomy”. There is growing concern amongst breast cancer experts of some of the potential harm of accessing home gene testing as some tests can be wrongly reassuring or lead to unnecessary worry. 
 
An article in the BMJ by leading geneticists in the UK cautioned the public about some of the available tests as they may prioritise “breadth over detail”. This is because available tests may only screen for a small number of mutations in genes like BRCA1 and BRCA2 when in actual fact there are many more. 
 
Genetic testing is very useful in the setting of a new breast cancer diagnosis. It can make an impact on type of surgery considered (lumpectomy vs mastectomy), surgical risk reduction (is a double mastectomy necessary), access to chemotherapy (PARP inhibitors may be considered for some patients) and surveillance strategies (should MRI follow up be considered). 
 
Our Family History clinic draws on Naren’s clinical and scientific expertise on breast cancer genetics and is supported by an internationally reputed genetics team who Naren has already undertaken breast cancer genetics research with. There is also access to the clinical psychology team and genetic counsellors for any further input. 
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