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BRCA1 and BRCA2 Mutations Can Increase a Woman’s Risk of Cancer.

Many factors can contribute to cancer in women, and genetics is one of them. However, what can be inherited through families is not cancer itself, but rather mutations in genes such as BRCA1 and BRCA2, which can increase the risk of developing breast cancer, ovarian cancer, and other cancers.

Key Takeaways

  • BRCA1 and BRCA2 are genes found in DNA that help cells repair damaged DNA correctly, acting like the body’s own DNA repair system.
  • Mutations in the BRCA1 and BRCA2 genes can significantly increase the risk of breast and ovarian cancer. These mutations may be inherited from either parent. Other factors, such as exposure to radiation or carcinogens, can also cause DNA damage and contribute to mutations.
  • Testing for BRCA1 and BRCA2 gene mutations helps assess an individual’s cancer risk and supports personalised prevention and screening plans.
  • Having a BRCA1 or BRCA2 mutation does not mean a person will definitely develop cancer, and not having these mutations does not mean there is no risk of developing cancer.

What Are BRCA1 and BRCA2 Genes?

The human body is made up of many cells, and DNA (genetic material) acts as an instruction manual that controls how cells function. DNA can become damaged over time due to normal cell division, ageing, or environmental factors.

BRCA1 and BRCA2 are genes that play an important role in repairing damaged DNA. They act like the body’s own DNA repair system, helping maintain the stability of cells and reducing the chance of abnormal changes.

Although BRCA1 and BRCA2 work together, they have different roles:

  • BRCA1 helps detect DNA damage, temporarily pauses cell division to prevent damaged cells from multiplying, and coordinates the repair process with other proteins.
  • BRCA2 helps deliver the RAD51 protein, which plays an important role in accurately repairing damaged DNA.

If DNA damage is not properly repaired, abnormal cells may develop, which can increase the risk of cancer.

When BRCA1 or BRCA2 genes have mutations, their ability to repair DNA may become less effective. Over time, accumulated DNA damage can increase the likelihood of cells developing abnormal changes and potentially becoming cancerous.

BRCA1 and BRCA2 Gene Mutations

Causes of BRCA Gene Mutations

BRCA1 and BRCA2 gene mutations can occur in two main ways:

  • Inherited Mutations (Germline Mutations)
    If a parent carries a BRCA gene mutation, there is a 50% chance of passing it on to each child, regardless of gender. These inherited mutations are present in every cell of the body from birth and remain throughout a person’s lifetime.
  • Acquired Mutations (Somatic Mutations)
    These mutations develop later in life due to errors that occur during cell division or exposure to factors such as radiation and carcinogens. They occur only in certain groups of cells and are not passed on to children.

BRCA1/BRCA2 Gene Mutations Increase Lifelong Cancer Risk

Cancer Type 

BRCA1 Gene Mutation Risk 

BRCA2 Gene Mutation Risk 

Typical risk

Female Breast Cancer 

55 – 80 %

45 – 70 %

12 %

Ovarian Cancer 

39 – 46 %

10 – 20 %

2 %

Male Breast Cancer 

1.2 %

6.8 %

0.1 %

Prostate Cancer 

Slightly increased risk

20 – 39 %

11 – 15 %

Pancreatic Cancer 

1 – 3 %

2 – 7 %

1.5 %

The table shows that BRCA1 and BRCA2 gene mutations can significantly increase the risk of certain cancers, particularly breast and ovarian cancer. Therefore, understanding these genetic risks can help women make informed decisions about screening and preventive care.

However, the level of cancer risk varies from person to person and depends on several factors, including family history, age, personal health, ethnicity, and other genetic or environmental factors.

Assessing Cancer Risk with BRCA Gene Testing

How Can BRCA Gene Testing Help?

  • Assess Long-Term Cancer Risk
    If a BRCA gene mutation is identified, doctors can use this information together with other personal risk factors to assess an individual’s cancer risk and develop a more personalised prevention plan.
  • Plan Proactive Cancer Screening
    People with BRCA gene mutations have an increased risk of certain cancers. Earlier, more frequent, or more detailed screening may be recommended by a doctor to support early detection.
  • Help Assess Cancer Risk in Family Members
    Because BRCA gene mutations can be inherited by both women and men, the results of one person’s genetic test may provide important information about potential cancer risks among family members.
  • Support Treatment Planning for Some Cancer Patients
    For individuals who have been diagnosed with cancer, BRCA gene testing may help doctors consider personalised treatment options, including targeted therapies where appropriate.

What Do Positive, Negative, and VUS BRCA Test Results Mean?

 

When the result is Positive
A positive result means that a BRCA1 or BRCA2 gene mutation has been identified. This mutation may be associated with an increased risk of certain cancers, but it does not mean that you will definitely develop cancer.

What should you do?

  • Consult your doctor to develop an appropriate plan for cancer screening, regular monitoring, and risk-reduction strategies.
  • Family members may consider genetic counselling or testing, as inherited BRCA mutations can be passed from one generation to another.

When the result is Negative
A negative result means that no BRCA1 or BRCA2 gene mutation was detected. However, this does not eliminate the possibility of developing cancer, as cancer risk can also be influenced by other genetic, lifestyle, and environmental factors.

What should you do?

  • Continue recommended cancer screening based on your age, personal risk factors, and family history.
  • Maintain a healthy lifestyle to help reduce other cancer risk factors, such as avoiding smoking, limiting alcohol consumption, maintaining a healthy weight, and exercising regularly.

When the result is VUS (Variant of Uncertain Significance)
A VUS result means that a genetic change has been identified in the BRCA gene, but current medical knowledge cannot yet determine whether this change increases cancer risk.

What should you do?

  • Discuss the results with your doctor, who will interpret them together with your personal and family medical history.
  • Your doctor may recommend appropriate follow-up based on future updates in genetic knowledge and your individual risk profile.

Who Should Consider BRCA Gene Testing?

BRCA gene testing may be considered for individuals with a higher possibility of carrying a BRCA mutation, including those with:

  • A parent, sibling, or child diagnosed with breast or ovarian cancer.
  • Multiple family members with breast or ovarian cancer.
  • A family history of pancreatic cancer or prostate cancer.
  • A family history of breast cancer diagnosed before the age of 50.
  • A male relative diagnosed with breast cancer.
  • A close relative who has been identified as carrying a BRCA1 or BRCA2 gene mutation.
  • A personal history of breast cancer affecting both breasts or multiple primary cancers.
  • A history of primary ovarian cancer, fallopian tube cancer, or primary peritoneal cancer.
Meeting these criteria does not necessarily mean that BRCA testing is required immediately. However, it may indicate that you should consult a doctor or genetic specialist to assess whether testing is appropriate for you.

The Difference with BRCA Genetic Testing at BNH Hospital

BNH Hospital excels in women’s healthcare. Our Women’s Health Centre, Gynaecology Centre, and Breast Health Centre provide holistic care, from screening and prevention to treatment and rehabilitation. Care is tailored to each individual’s needs by specialist physicians working in collaboration with multidisciplinary teams. This ensures appropriate BRCA genetic testing, as well as personalised planning based on the test results.

BNH Hospital not only offers BRCA genetic testing using advanced technology, state-of-the-art laboratories, and experienced medical teams, but also provides comprehensive and meticulous care. From pre-test assessment and selecting the most appropriate testing package to interpreting the results alongside each individual’s medical history, every step is designed to ensure the most accurate results for effective health assessment and future care planning.

Interested in BRCA Genetic Testing at BNH Hospital?

If you meet the criteria for a possible BRCA gene mutation and are interested in genetic testing or would like an assessment of your inherited cancer risk, please book an appointment with BNH Women’s Health Centre: Read More

Essential 90-Gene Expanded Panel Test (ENCODE) for hereditary cancer risk assessment at BNH Hospital
Regular Price
Special Price
25,000 Baht
19,900 Baht

Essential 90-Gene Expanded Panel (ENCODE)

This test is designed to assess cancer risks that may be associated with hereditary factors, such as breast cancer, ovarian cancer, colorectal cancer, prostate cancer, pancreatic cancer, and certain other cancers that may be linked to family history.

The results can help doctors use genetic information as part of a comprehensive risk assessment, plan preventive screening, and provide more personalized health recommendations. However, genetic testing is not a cancer diagnosis. If no genetic abnormality is found, it does not mean that there is no risk of developing cancer in the future.

Examinations 

  • Essential 90-Gene Expanded Panel (ENCODE)

Terms and Conditions 

  1. All packages are inclusive of doctor’s fee, medical supplies, and hospital and nursing services fee.
  2. Expenses for additional consultation, investigation, or treatment other than the package are not included.
  3. All packages are transferable
  4. Please make an appointment at least 2 days prior to using the services via BNH Cares at LINE @BNHhospital or contact our staff for assistance at LINE @Mbrace
  5. Services are available at the Women’s Health Centre, 4th floor, zone A, BNH Hospital. Monday – Sunday at 7 am. – 7 pm.
  6. For more information, please contact the Women’s Health Centre, BNH Hospital at 02-022-0788 and 02-022-0850
  7. Services valid until 15th September 2026. 

Preparation 

  • No fasting is required before the test.

Frequently Asked Questions

A: BRCA1 and BRCA2 are genes that play an important role in DNA repair and help maintain the stability of the body’s genetic material.

A: If the BRCA genes mutate and no longer function properly, the DNA repair system becomes less efficient. As a result, cells are more likely to develop abnormalities, increasing the risk of cancer, particularly breast, ovarian, prostate, and pancreatic cancers.

A: No, it does not. A BRCA gene test is not used to diagnose cancer; rather, it is designed to assess your genetic risk.

A: No. A negative result means that no mutation was detected in the genes included in the test. However, other factors, such as diet and lifestyle, also influence cancer risk.

A: Yes. Men can also carry BRCA gene mutations and may pass them on to their children.

A: You should also consider other factors, such as the type of cancer in your family, the number of affected relatives, and whether there is a family history of BRCA gene mutations. If you meet several of these criteria, you should seek medical advice.

In summary, BRCA genetic testing is about understanding your risk, not causing unnecessary worry.

  • BRCA1 and BRCA2 are genes involved in DNA repair. Mutations in these genes may increase the risk of breast cancer, ovarian cancer, and certain other cancers.
  • BRCA genetic testing does not tell you whether you have cancer, nor is it used to monitor treatment outcomes. Instead, it provides information to help doctors assess your risk, plan appropriate screening, and offer more personalised long-term healthcare advice.
  • If you have a family history of cancer or would like to better understand your risk, you can consult a doctor at the BNH Women’s Health Centre to determine whether BRCA genetic testing is appropriate for you.

Consult a specialist in gynaecologic cancer.

Make an appointment or contact us for more information via LINE @BNHhospital
Gynaecology Centre, 4th Floor, Zone A, BNH Hospital