The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer
It is somewhat of a paradox that the BRCA1/2 gene, which increases the risk of ovarian cancer also is found to be protective, in that women who carry this gene sometimes are super survivors.
This study looked at the genome of 60 women with advanced ovarian cancer who had survived 10 years or more. Whole genome sequencing showed that these women were more likely to have genetic mutation resulting in DNA repair deficiency.
Other genetic differences included amplification of cyclin E1 and suppression of a gene; RB1. Normally both these genetic changes would have adverse effects, however in combination with BRCA positive status survival is sometimes enhanced. Reasons as to why this is so are yet to be determined.
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