March 8: What every woman should know about genetic testing for breast cancer

 

March 8th is not just a day to celebrate women. It's also a time to reflect, inform, and take action. Because one of the greatest ways to honor women's lives is to talk openly about health, prevention, and the tools that exist today to protect them. At Zogen, we believe that knowledge is the first step toward early detection, and early detection can save lives.

In this article we explain what genetic testing for breast cancer is, what it's for, who should have it done, and why access to cutting-edge genomic medicine is more important than ever.


Breast cancer in Mexico: a reality we cannot ignore

According to data from the National Institute of Statistics and Geography (INEGI), in 2024 breast cancer was the leading cause of death from malignant tumors in Mexico, with 8,451 deaths, 99.2% of which were women. The mortality rate reached 18.7 deaths per 100,000 women over 20 years of age—a sustained increase compared to the rate of 15.7 recorded in 2015 (Source: INEGI, Statistics on Registered Deaths 2024, preliminary).

These figures are alarming. But they also tell us something very important: there is a huge window of opportunity to act before it's too late. The key lies in early detection and understanding each woman's individual risk—and that's where genomics comes in.

According to Claudia Arce Salinas, Head of the Medical Oncology Department at the National Cancer Institute (INCan), “when cancer is detected in its early stages, the chance of a cure is higher than 90%. However, if it is diagnosed in advanced or metastatic stages, the chances of a cure decrease considerably.”


What are genetic tests for breast cancer?

Genetic testing for breast cancer involves DNA analysis to identify whether a person has variants or mutations in specific genes that increase their risk of developing the disease during their lifetime. It is not a cancer diagnosis, but rather a powerful tool for risk assessment and personalized care.

There are two main types of tests:

Germline tests: These tests analyze inherited DNA, present in all cells of the body. They are performed using a blood or saliva sample. They are ideal for determining hereditary predisposition to cancer.

Somatic tests (for tumors): They analyze mutations present only in the cancerous cells of the tumor. They are primarily used to guide treatment in women who have already been diagnosed with breast cancer.


BRCA1 and BRCA2: the genes every woman should know about

According to the U.S. National Cancer Institute (NCI), BRCA1 and BRCA2 are genes that produce proteins responsible for repairing DNA damage. Everyone has two copies of each gene—one inherited from each parent. When a harmful variant in one of these genes is inherited, the risk of developing breast and ovarian cancer increases significantly.

The data is compelling (Source: NCI, cancer.gov):

More than 601% of women who inherit a harmful variant in BRCA1 or BRCA2 will develop breast cancer during their lifetime. In comparison, only 131% of women in the general population will. Women with a BRCA1 mutation have a cumulative risk of up to 721% for breast cancer by age 80; BRCA2 carriers, up to 691%. The risk of ovarian cancer also rises dramatically: between 391% and 581% in BRCA1 carriers, and between 131% and 291% in BRCA2 carriers (compared to 1.11% in the general population).

However, BRCA1 and BRCA2 are not the only relevant genes. There are more than 80 additional genes associated with hereditary breast cancer, including PALB2, CHEK2, ATM, CDH1, and PTEN, among others—each with specific clinical implications that modern multigene panels allow to be evaluated in a single study.


Who should get genetic testing for breast cancer?

Not all women need this type of test, but there are clinical situations in which genetic evaluation is highly recommended. Guidelines from the National Comprehensive Cancer Network (NCCN) and the US Preventive Services Task Force indicate that genetic testing should be considered when the following exist:

  • Personal diagnosis of breast cancer, especially before the age of 45.
  • Bilateral breast cancer or cancer in the contralateral breast.
  • Family history of breast, ovarian, pancreatic or prostate cancer in first or second degree relatives.
  • A relative with a known mutation in a hereditary predisposition gene.
  • Breast cancer in men within the family. Ashkenazi Jewish ancestry — group with the highest prevalence of founder variants in BRCA1 and BRCA2, with a carrier rate of up to 1 in 40 people (Source: NCI).

The evaluation should always be accompanied by genetic counseling, which helps to interpret the results and make informed decisions about surveillance, prevention, and reproductive options.


Beyond BRCA: testing for women with an active diagnosis

When breast cancer has already been diagnosed, genetic and molecular tests take on a different but equally transformative role: they guide the most effective treatment and avoid unnecessary therapies.

Liquid biopsy — ctDNA (Natera, Signatera): Through a simple blood test, it is possible to detect fragments of circulating tumor DNA. This allows for monitoring treatment response and the presence of minimal residual disease, without invasive procedures and with high accuracy.

Comprehensive tumor profiling (Tempus): It analyzes the complete molecular profile of the tumor to identify specific genomic alterations that can be targeted by therapies or immunotherapy, opening up personalized treatment options when standard regimens are not sufficient.


The power of knowledge: why genomics is changing the rules of women's healthcare

The biggest advance in the fight against breast cancer isn't just treatment—it's anticipation. Knowing your genetic profile allows you to act before the disease appears, adjust your medical monitoring, make informed reproductive decisions, and, if you already have a diagnosis, receive the most precise treatment for you—not for a statistical average.

Mexico's Ministry of Health urges all women to have an annual mammogram starting at age 40, and NCCN guidelines recommend that women with BRCA mutations begin MRI screening from age 25 — evidence that genetic knowledge not only informs: it transforms the entire care protocol.

This March 8th, we celebrate all women by reminding them that self-care is also an act of love, courage, and power. The information is yours. The technology is available.

Write to us to find out which test is most appropriate for your medical history.


Sources:

INEGI. Statistics on Registered Deaths (EDR), 2024, preliminary. inegi.org.mx

National Cancer Institute (INCan) — Ministry of Health of Mexico. incan.salud.gob.mx

National Cancer Institute (NCI). BRCA Gene Changes: Cancer Risk and Genetic Testing. cancer.gov

National Comprehensive Cancer Network (NCCN). Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. nccn.org

US Preventive Services Task Force. Recommendation on BRCA-related cancer. uspreventiveservicestaskforce.org

Ministry of Health. NOM-041-SSA2-2011 for the prevention, diagnosis, treatment, control and epidemiological surveillance of breast cancer. gob.mx/salud

women's day
March 8: What every woman should know about genetic testing for breast cancer

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