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November 30, 2022 - Posted by

Breast cancer is one of the noncommunicable diseases with the highest mortality rate. The mortality rate from this cancer is approximately 21.5 per 100,000 persons in Indonesia. Early detection, screening, and gene analysis are all effective methods of breast cancer prevention.

Breast cancer prevention with genetic screening

Gene screening is an early method of detecting previously recognized genetic markers, notably breast cancer susceptibility genes 1 and 2. (BRCA 1 and BRCA 2). The BRCA 1 and BRCA 2 genes are the most extensively researched genes in relation to breast cancer.

Mutations in these two genes, which have been confirmed to be the source of hereditary breast cancer cases, contribute for 5 – 10% of cases in the United States. An increase in ovarian, fallopian tube, and prostate cancer may occur in someone with a BRCA gene mutation. Other gene mutations that are frequently related with breast cancer include ATM, CHEK, PTEN, PALB2, TP53, CDH1, and STK11.

Accordingly, the discovery of the BRCA gene was employed as chemoprophylaxis—the use of chemotherapy—to avert the development of breast cancer. The choice of medicines to be used, such as systemic and adjuvant therapies, is then influenced by the discovery of these genes.

Benefits of cancer gene screening

Breast cancer gene testing has numerous advantages for patients and their families, including risk screening and early cancer detection. Patients who have inherited genetic mutations are more likely to develop ipsilateral or contralateral breast cancer.

This is due to the fact that gene discovery can have an impact on post-therapy surveillance regimes. As a result, patients who carry this gene should get annual mammography and MRI screenings. Patients and their families who have breast cancer risk mutations are advised to get mammography and MRI every year in order to detect breast cancer early.

If the patient is found to have an inherited cancer gene, there is at least one other family member who has had early stage breast or ovarian cancer but has not been discovered.

Patients who do not have the gene mutation, on the other hand, merely need to undergo mammography. Consequently, there are many advantages to preventing breast cancer by gene screening, but it must be done with the appropriate specialist’s or genetic counselor’s consent.


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