Sunday, June 24, 2012

Gene Mutation Is A Risk For Breast Cancer Survivors

A presentation at the CTRC-AACR San Antonio Breast Cancer Symposium, held Dec. 6-10, 2011, showed that breast cancer survivors who carry the BRCA1 or BRCA2 genetic mutation are at high risk for developing contralateral breast cancer, ie. a new primary tumor in the other breast. According to the data, certain women within this group of carriers are at an even greater risk, based on age at diagnosis and first tumor status.

Alexandra J. van den Broek, M.Sc., a doctoral candidate at the Netherlands Cancer Institute said :

"Our studies show that certain subgroups of women [with this mutation] who have already had cancers are also at risk for developing a second new cancer in their other breast, much more so than survivors who do not carry the mutation ...

Our study is, as far as we know, the first study showing that within certain carriers of BRCA mutations, subgroups with an increased or decreased risk for contralateral breast cancer (CBC) can be made."


Researchers surveyed 5,061 women diagnosed with unilateral, invasive breast cancer at 10 hospitals in the Netherlands. Two hundred and eleven women (4.2 percent) were carriers of the BRCA1 or BRCA2 mutation. Overall, at a median of 8.4 years of follow-up, 8.6 percent of participants developed CBC, while the overall 10-year risk for developing CBC in noncarriers was 6.0 percent ,and risk for carriers was 17.9 percent.

For carriers diagnosed with their first breast cancer occurring when they are younger than 40, the 10-year risk for CBC rises to an alarming 26.0 percent. From 40 to 50 years the risk was 11.6 percent.

In addition, mutation carriers with a triple-negative first tumor had a 10-year cumulative CBC risk of 18.9 percent compared with 11.2 percent among carriers with a non-triple-negative first tumor.

van den Broek cautioned that although the figures can seem shocking to cancer survivors, she pointed out that it is vital to know who is most at risk and by how much :

"Guidelines for prophylactic measures and screening in the follow-up of patients with breast cancer carrying the BRCA1 or BRCA2 mutation are important to provide patients with the best information and counseling ... If these results are confirmed, [it will be] possible to personalize the guidelines for these specific subgroups."


The next stage of van den Broek's research will be to confirm her results in a wider study with a greater number of patients, and to dig deeper into the data to define subgroups with increased or decreased risks.

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