Genetic Connection to TNBC is Complex, Researchers Say

We know that triple-negative breast cancer is connected to the mutation of the BRCA gene. What we don’t know is why do some women with the BRCA1 mutation get breast cancer while others don’t.

Research in the journal Nature Genetics, published online this week, helps explain the genetic links to TNBC.

Those women who have the BRCA mutation and get TNBC are likely to also likely to have other genetic variants, specifically rs8170 and rs48-8611, all on chromosome 19p13.

Researchers studied 1,193 women with BRCA1 mutations diagnosed with cancer before the age of 40 and compared their genetic composition to a control group of 1900 women without breast cancer. They ten replicated their results with a new sample of 2,974 women with breast cancer and the BRCA1 mutation and 3012 without breast cancer. The results were the same.

The research

Antoniou AC, Wang X, Fredericksen ZS et al. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nature Genetics, September 19 2010 (published online)