Breast cancer, the disease that affects millions of women globally and is responsible for about 11.7% of cancer deaths, has been a subject of research for decades.

Despite numerous treatments, surgeries, and therapies, the cancer recurrence rate is still high, making cancer a residual threat. However, recent studies have shown there is some hope in uncovering the genetic cause of breast cancer resurgence.

What is Breast Cancer?

Breast cancer occurs when cells in the breasts start to grow abnormally, leading to the formation of tumors and other abnormalities. It is the most common cancer among women globally, with about 2.3 million women diagnosed with the disease each year.

Factors that increase the risk of breast cancer include genetic mutations, family history, and certain lifestyle habits like consuming excessive alcohol or obesity.

Breast Cancer Resurgence

Breast cancer resurgence, or the recurrence of breast cancer, is when breast cancer comes back after treatment.

Many factors can cause the reappearance of cancer cells, including an increase in the number of cancer cells that survived after treatment, stray cancer cells that have migrated to other parts of the body, or genetic mutations that are resistant to treatment. Breast cancer that has recurrence is frequently more aggressive than the original cancer, posing a severe threat to patients.

The Study of Genetic Cause of Breast Cancer’s Resurgence

A recent study conducted by the researchers from the University of Melbourne has been successful in identifying the genetic cause of breast cancer recurrence.

The study found two genes that, when mutated, could cause breast cancer to return after treatment, making up about 10% of breast cancer recurrence cases.

The researchers performed whole-genome sequencing on 170 breast cancer patients that had either relapsed or had progressive cancer.

They analyzed the differences in the genomic DNA of the relapsed cases and the primary tumors to check for any fundamental genetic causes of recurrence. The study revealed that mutations in two genes, ARID1A and KMT2D, increased the risk of cancer relapse.

The Impact of ARID1A and KMT2D Genes

The ARID1A gene, responsible for encoding proteins that guide DNA repair and DNA transcription, is found to be mutated frequently in many cancers, including breast cancer.

The mutation in this gene leads to abnormal activity that results in rapid tumor growth and metastasis.

KMT2D, on the other hand, is responsible for encoding histone methyltransferase, a protein that plays a crucial role in controlling gene expression.

It helps to maintain the expression levels of tumor suppressor genes responsible for preventing cancer growth. Mutations in this gene can lead to a loss of control over gene expression and hence promote tumor growth.

The Future of Breast Cancer Treatment

The study is a significant breakthrough in preventing breast cancer recurrence, and it has immense potential in improving treatment outcomes for breast cancer patients.

The discovery of the ARID1A and KMT2D genes’ impact in causing cancer recurrence will enable physicians to develop personalized treatment strategies for patients accordingly.

Targeted therapy can be used to inhibit the abnormal activity of the two genes to prevent tumor growth and metastasis and prevent recurrence.

Additionally, genetic testing can be employed to identify the presence of mutations in the genes responsible for the cancer recurrence risk. By identifying the genetic cause of the disease, physicians can use this information to establish an effective treatment plan and develop new treatments and therapies that mitigate the risk of breast cancer recurrence.

Conclusion

Breast cancer recurrence is a severe threat to patients globally. A recent study conducted by the researchers from the University of Melbourne has identified the genetic cause of breast cancer recurrence, the ARID1A and KMT2D genes.

This discovery will enable physicians to develop personalized treatment strategies and develop new treatments and therapies that mitigate the risk of breast cancer recurrence, ultimately improving treatment outcomes for patients.