Thursday, 8 March 2012

Breast cancer and Li Fraumeni Syndrome

For women with Li Fraumeni Syndrome (LFS), the threat of breast cancer is ever present. The life time risk of developing breast cancer before the age of 60 is 49% for women with LFS. However, as with all cancers, there are many sub-types of breast cancer, some of them more amenable to treatment than others. So for this reason discovering whether there is a correlation between LFS and particular types of breast cancer is especially important. And the good news is that the picture that a positive picture is emerging from the studies being performed.

The latest paper looks at results from the breast tumour biopsies of 39 women with LFS (and while 39 looks like a low number, this represents the largest sample that has been examined so far). The average age at diagnosis of these women was 32. In all 43 tumours were examined, and of these 32 were found to be invasive ductal carcinomas and 11 were ductal carcinomas in situ (DCIS). Of the invasive tumours, 81% were high-grade, and 84% were hormonally dependent (i.e. positive for ER and/or PR). Additionally, 63% of them were positive for HER2/neu - as were 73% of the less dangerous DCIS tumours. Furthermore, 53% of the invasive tumours were positive for both ER and HER2.

What does this all mean?

It means that the majority of breast cancers in LFS patients are of the types that are more amenable to treatment. In the words of the original paper: 
These findings suggest that modern treatments may result in improved outcomes for women with LFS-associated breast cancer.
The trick now is to take these findings and look to see what it means in terms of chemoprevention. Are there protocols out there that can be adapted to reduce the risk of breast cancer in female LFS patients?

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