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Mapping of ovarian cancer genome

Analysis of a study published in a science journal   |   By Dr Sowmiya Moorthie   |   Published 6 July 2011
Study: Integrated genomic analyses of ovarian carcinoma
By: The Cancer Genome Atlas Research Network
In: Nature
What this study set out to do:

Carry out detailed molecular analysis of high-grade serous ovarian adenocarcinoma (HGS-OvCa) cells in order to identify and catalogue factors that influence pathophysiology of cancer and outcome of therapy, as well as identify potential therapeutic targets.

How they went about it:

The exomes of normal and tumour cells were captured and sequenced in order to identify genes mutated in the ovarian cancer cells. Microarray techniques were used to investigate gene expression, copy number changes and DNA methylation patterns in tumour cells.


Mutations in single genes as well as a large number of copy number changes contributed to disease. The majority of tumour cells had a mutation in the TP53 – a tumour suppressor gene, mutations in other genes including BRCA1 and BRCA2 are also associated with disease but were not present in all samples. The mutations present in HGS-OvCa are different from those present in other sub-types of ovarian cancer. Gene expression studies identified a number of genes are associated with survival and showed that there are distinct sub-types of the disease.


The identification of molecular sub-types of ovarian cancer is an opportunity for sub-type stratified treatment. Therapies aimed at genes involved in DNA repair may be beneficial as there are defects in the networks of genes involved in this process.

Our view:

Ovarian cancer is a leading cause of death in women and therapy is not always successful. An understanding of the underlying molecular defects that influence response to therapy can lead to better management of the disease and development of new therapies. Although further work is needed to investigate how the different molecular sub-types of cancer can be managed, this study is the initial step that could eventually lead to stratified treatment.

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