American and Canadian researchers have linked specific DNA mutations to a high risk of relapse in estrogen receptor-positive breast cancer patients in a study published in the journal Nature Communications, which may help predict which patients are more likely to relapse and metastasize.
Breast cancer affects one in eight women in the US and is one of the most prevalent forms of cancer in women worldwide. While some types of the condition are treatable, other breast cancer forms are harder to beat.
To achieve their findings, the scientists analyzed tumor samples from more than 2,500 patients with this type of breast cancer, one of the most common forms of the disease. These patients have some hormone treatment options that block the estrogen receptor to stop tumor growth, which is practical and less toxic than traditional chemotherapy and radiation.
However, some tumors develop resistance to these treatments and mutate into cancer-promoting growths, regardless of the presence of estrogen. These types of mutations are of great interest to the scientific community because they are responsible for the majority of deaths from this type of breast cancer.
American and Canadian researchers discovered three new DNA mutations involved in breast cancer development
This work has confirmed a previous study that showed that relatively common mutations in the genes called MAP3K1 and TP53 had opposite effects on tumor aggressiveness.
In this sense, patients with MAP3K1 mutations were successful in beating breast cancer, while those with TP53 gene mutations probably experienced a relapse of the disease. Additionally, the recent study, jointly conducted by American and Canadian researchers, identified three genes, DDR1, PIK3R1, and NF1, with relatively rare DNA mutations associated with cancer relapse and spread.
“These genes are now likely to be included in the genetic panel tests, particularly when clinical trials targeting these mutations are developed,” the researchers said in the study’s report, published in the journal Nature Communications.