For women diagnosed with abnormal breast changes at an early stage, a new study suggests that genetic analysis can help answer a crucial question: will these cells progress towards invasive breast cancer?
DCIs and LCIs are abnormal cells confined to milk canals or lobules (milk producing milk in breast canals).
Predict which women with DCIS or LCI are the most likely to develop invasive breast cancer is vital to provide the best possible treatment options, because all cases of breast cancer of stadium 0 do not take place in this way, says the first author, Jasmine Timbres, clinical information analyst at King’s College in London.
Because it is currently impossible to know which women will end up developing invasive breast cancer, many are undergoing treatments they may not need, according to study authors, including surgery, radiotherapy or hormone therapy.
Researchers behind the new study hope that a genetic test to identify the most at risk will finally open the way to more personalized treatment decisions.
The genetic risk score has helped predict the trajectory of DCIs and LCIs
The study followed more than 2,000 women in the United Kingdom who had been diagnosed with preinvasive breast cancers. About 90% had a DCIS and the rest had LCIs.
The researchers used DNA analysis to examine these cancers for 313 current genetic variants, combining the results in what is called a genetic risk score.
Women with higher scores were more likely to develop invasive breast cancer later. Above all, the genetic score predicted the risk independently of other factors such as age or type of treatment.
“Until now, treatment decisions are mainly based on the appearance of these cells under a microscope,” said stamps. But these results suggest that predicting women more likely to develop invasive breast cancer should not simply count on these methods, she said.
“We must also consider genetic risks, family history and a woman’s lifestyle. By examining the full image, we can give women more precise information on their personal risk of recurrence. This will help them make more informed choices on their treatment options and what suits them, ”explains stamps.
A step towards more personalized treatments
The risk score can identify those which are more at risk of developing new breast cancers, whether in the same breast or the opposite breast, explains Dr. Roy, which has not been involved in research. “It highlights the potential for genetic risk scores to guide more personalized care in this context,” she says.
What would it look like in practice? If the results are confirmed, the risk score could help doctors to adapt the recommendations for surveillance intensity and risk reduction strategies, including drugs such as tamoxifen or aromatase inhibitors, especially for high -risk women, explains Roy.
“At the same time, women who were at a lower risk could be able to avoid unnecessary treatments and the side effects that accompany them.
The study has certain limits
May Chen, MD, medical oncologist at Stanford Medicine in California, says that the study is promising, but its results should not be used to stimulate treatment decisions for patients, at least not yet.
It says that it is possible that the genetic risk score can help determine the risk level for women’s breast cancer 0, and potentially be used to guide women who do not otherwise consider the treatment of their DCIS or LCI lesions.
“It is difficult to know if it could influence the results of the treatment, as it is a retrospective study and not based on prospective information,” explains Dr. Chen, who was not involved in the new research. In other words, this study looked back over time in the existing patients of patients, instead of following people over time to see what happened.
This means that the results can show a possible link, but they cannot prove that using the genetic test would change treatment decisions or improve cancer results.
These results must be validated in other studies and with a larger sample size, especially in women with LIS, explains Chen.
Future studies must include women of different breeds and ethnicities to see if the results would apply more widely-the British and European population of this study was almost completely white, she notes.
Should women with stadium breast cancer are asking for genetic tests?
If a woman has been diagnosed with preinvasive breast cancer, genetic tests can sometimes give more information on the risk of developing invasive breast cancer in the future, Roy explains.
“Genetic tests can provide useful information, but the decision is personalized and must be taken with a health care team,” she said.
If a woman with stadium breast cancer considers genetic tests, Roy offers the following considerations:
- Genetic tests can seek changes in hereditary genes (such as BRCA1, BRCA2 or other gene variants) which can increase the risk of breast cancer.
- Knowing the results can help guide screening decisions, preventive measures or processing options.
- Not all women with DCIS or LCIS do not need genetic tests. It is very useful for people with solid family history of breast or ovary cancer, a younger age during diagnosis or other risk factors.
- A genetic advisor can examine personal and family history, explain the advantages and disadvantages of tests and help interpret the results.
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