Angelina Jolie, who has never had cancer before, decided to have a preventive double mastectomy because she has a BRCA1 gene mutation, which puts her at increased risk for breast cancer. Photo: Filepic/AFP
In 2013, American actress Angelina Jolie, who has never had cancer before, decided to have a preventive double mastectomy because she has a BRCA1 gene mutation, which puts her at increased risk (87%) of developing breast cancer. And, in 2015, she had her ovaries and fallopian tubes removed to reduce her risk of developing ovarian cancer, the disease that killed her mother at the age of just 56.
During that time, there were only two genes that were usually tested for cancer risk in an individual – BRCA1 and BRCA2.
Using gene testing to assess the risk of breast cancer
Clinicians will soon be able to use gene panel testing to identify those most at risk from developing breast cancer, thanks to 2,000 DNA samples gathered in Ireland and which were used as part of an international study involving more than 113,000 women,
Peter Doyle reports
There are nine specific genes associated with breast cancer risk, according to the results of an international project with significant Irish involvement. The University of Cambridge-led BRIDGES (Breast Cancer Risk after Diagnostic Gene Sequencing) study aimed to identify women at high risk of breast cancer and to develop sensitive and informative gene panel testing for the prediction of breast cancer risk.
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IMAGE: From left to right, CNIO researchers Belén Herráez, Anna González-Neira, Rosario Alonso, Nuria Álvarez, Ana Osorio, Rocío Núñez, Guillermo Pita, and Javier Benítez. view more
Credit: A. Garrido, CNIO
Genetic inheritance affects the likelihood of developing breast cancer. Some genes are already known to increase cancer risk; other genes are suspected to be involved, but not to what extent. It is crucial to clarify this issue to improve prevention since it opens the way to more personalised follow-up and screening programs. A large international consortium, which includes the Spanish National Cancer Research Centre (CNIO), has studied 34 putative susceptibility genes on samples from 113,000 female breast cancer cases and controls, and its results confirm the importance of nine of them.