Genetic Testing For Breast Cancer

More people are exploring genetic testing for breast cancer as a way to better understand their risk. While many associate this type of testing with family history, the truth is more nuanced. Advances in genomic science and access to options like full genome sequencing allow people to examine inherited risk on a more personal level. Below are a few groups who may benefit from taking a closer look.

People With Strong Family History Of Breast Or Related Cancers

Those with a parent, sibling, or child diagnosed with breast, ovarian, or prostate cancer may want to consider a breast cancer genetic test. Some populations, including individuals of Ashkenazi Jewish ancestry, have a higher chance of carrying BRCA1 or BRCA2 mutations. That’s why identifying these variants through genetic testing for breast cancer gene mutations can help inform earlier and more frequent screening strategies.

People Diagnosed With Breast Cancer At A Young Age

Anyone diagnosed with breast cancer under age 50 may benefit from gene testing for breast cancer if the diagnosis includes triple-negative breast cancer or if there are multiple cases across generations. In these cases, test results may reveal mutations beyond BRCA1 and BRCA2, including genes like PALB2, TP53, and CHEK2. This kind of insight allows people to better understand their risk and, in some cases, may inform discussions about treatment options and preventive actions tailored to their genetic makeup.

People Interested In Personalized Cancer Therapies

While breast cancer genetic testing is often associated with risk, it also plays a growing role in how treatment decisions are made. Genetic insights can help determine whether someone may be eligible for targeted therapies, which rely on identifying specific mutations. In this context, testing becomes less about diagnosis and more about personalization. Access to full genome sequencing can uncover rare or lesser-known mutations that guide discussions with your care team, helping connect the dots between your genetic blueprint and next-step plans.

How Breast Cancer Genetic Testing Works At Dante Labs

Dante Labs uses advanced sequencing tools to make genetic testing for breast cancer gene mutations accessible, comprehensive, and easy to understand. Here's how the process works, from collection to analysis.

Step 1: Start With A Simple DNA Sample

The testing process begins with a saliva sample collected at home using a secure kit. Once received by Dante Labs, this sample undergoes DNA extraction, where technicians isolate genetic material for sequencing. This approach eliminates the need for a blood draw or clinic visit, making breast cancer genetic testing more convenient at home.

Step 2: Analyze Your Genome With Precision Tools

After DNA extraction, the lab performs high-coverage sequencing on the entire genome. This generates a complete map of your genetic code, allowing scientists to scan for variants in known breast cancer genes like BRCA1, BRCA2, PALB2, CHEK2, and others. The process compares your genome to global reference databases, highlighting rare or common mutations linked to breast cancer risk.

Step 3: Access Your Results Through A Personalized Report

Once the analysis is complete, your results are delivered through a detailed, user-friendly report. This document outlines any relevant mutations and what they may indicate about hereditary risk. In many cases, the report includes information that can support conversations with your healthcare provider or inform your next steps for screening.

For those seeking an in-depth view of their genetic landscape, we offer full genome sequencing, which goes beyond targeted panels to uncover insights across all 3.2 billion base pairs.

Other Genetic Mutations Linked To Breast Cancer

While BRCA1 and BRCA2 are often the most recognized, a broader group of genes also plays a role in breast cancer genetic testing. Here are key genes that often appear in gene testing for breast cancer.

• TP53: Mutations in this tumor suppressor gene are strongly linked with Li-Fraumeni syndrome, a rare condition associated with early-onset breast cancer and several other cancer types. TP53 helps control cell growth and triggers self-destruction in damaged cells. 
• PALB2: This gene partners with BRCA2 to help repair damaged DNA. People with genetic testing for breast cancer gene mutations in PALB2 often show a risk level similar to BRCA2 carriers.
• CHEK2: CHEK2 mutations affect the body’s ability to stop cell division and repair damage. 1100delC is known to increase breast cancer risk two- to threefold. These mutations show up across different populations and are frequently included in breast cancer gene testing panels.
• ATM: Mutations in ATM are associated with a moderate increase in breast cancer risk. ATM plays a role in repairing double-strand breaks in DNA, and variations in this gene are best known from studies on ataxia-telangiectasia. However, they’re increasingly being evaluated in genetic testing breast cancer profiles for their connection to hereditary risk.
• CDH1, PTEN, and STK11: These genes are tied to specific hereditary cancer syndromes that include breast cancer among their risks. Mutations here often appear in families with strong histories of multiple cancers.

Modern breast cancer genetic test panels and full genome sequencing go beyond BRCA-focused analysis to include these and many other variants. At Dante Labs, our sequencing technology helps capture a more complete picture, offering insight into both well-known and emerging markers of hereditary breast cancer.

How To Interpret Breast Cancer Genetic Testing Results

Receiving results from a breast cancer genetic test can feel both revealing and complex. These insights reflect your unique DNA makeup and often raise important questions about what the findings mean. Here’s how to read the most common types of outcomes.

Pathogenic Variants Signal Higher Risk

Some changes in your DNA are classified as “pathogenic,” meaning they’re backed by strong evidence linking them to a higher risk of developing certain cancers. 

Mutations in BRCA1, BRCA2, and other high-risk genes often fall into this category. For individuals who test positive for these variants during genetic testing for breast cancer gene mutations, a care team may recommend earlier screenings or different long-term planning strategies. While BRCA-related results are among the most familiar, breast cancer gene testing today includes dozens of other genes like PALB2, CHEK2, and TP53. 

Benign Results Offer Reassurance

Variants labeled as “benign” or “likely benign” are considered common and non-harmful. Current research shows they do not influence breast cancer susceptibility. In many cases, these results can offer peace of mind, although researchers continue to track new data as the science evolves. These variants are often flagged during gene testing for breast cancer but require no medical action. However, combining your results with family history and clinical input remains essential for context.

Variants Need Ongoing Context

Some genetic changes don’t yet have enough data to confirm whether they raise risk. These are called “variants of uncertain significance,” or VUS. When a VUS appears on a report, there isn’t a clear path forward—yet. This result may require future reevaluation as scientific databases grow.

Genetic testing breast cancer panels often flag VUS findings for future monitoring, especially in comprehensive formats like full genome sequencing. These insights should always be interpreted with the help of a genetics professional since personal context—including ancestry and medical history—can shape what comes next.

Personal And Family History Add Meaning

Beyond the report itself, personal factors influence how genetic results are used in care planning. A breast cancer genetic testing result gains clarity when paired with information about your family history, background, and age at diagnosis. Genetic counselors can help interpret this data, offering guidance for the next steps, from risk assessment to screening strategies.

How Genetic Testing Can Shape Treatment Paths

The results from a breast cancer genetic test can inform decisions across treatment, screening, and family planning. Below are key ways that genetic testing for breast cancer gene variants may influence care:

• Targeted therapies become accessible: For individuals with BRCA1 or BRCA2 mutations, treatments like PARP inhibitors may be recommended. These therapies work by targeting faulty DNA repair mechanisms found in certain inherited mutations. Access to these treatments depends on findings from breast cancer gene testing.
• Surgical choices can shift: Results from genetic testing breast cancer panels may influence the decision between lumpectomy and mastectomy. In some cases, individuals consider a bilateral mastectomy based on known high-risk variants. These proactive choices often align with long-term planning goals.
• Surveillance strategies evolve: Oncologists may recommend earlier or more frequent screenings for those with specific mutations. Depending on the result, that could mean beginning breast MRIs at a younger age or alternating between imaging types for better coverage.
• Family insights lead to early intervention: One person’s gene testing for breast cancer can prompt relatives to consider their genetic screening. Known mutations often lead to cascade testing, giving family members more time to consider preventive care.
• Broad testing reveals additional treatment: Choosing full genome sequencing may uncover rare or novel variants that guide future care. These findings can inform both standard treatment plans and clinical trial eligibility, depending on what’s discovered.

Sources:

1. National Breast Cancer Foundation. Genetic testing for breast cancer. https://www.nationalbreastcancer.org/genetic-testing-for-breast-cancer/
2. National Breast Cancer Foundation. Other breast cancer genes. https://www.nationalbreastcancer.org/other-breast-cancer-genes/
3. National Breast Cancer Foundation. What to do if you’ve tested positive. https://www.nationalbreastcancer.org/what-to-do-if-youve-tested-positive/
4. Susan G. Komen. Ashkenazi Jewish heritage. https://www.komen.org/breast-cancer/risk-factor/ashkenazi-jewish-heritage/