Fatigue is one of the most common and challenging symptoms experienced by people with breast cancer, yet it is often underestimated. Unlike normal tiredness, breast cancer-related fatigue can be overwhelming and persistent, affecting every part of a person’s daily life.

This article explores the differences between breast cancer-related fatigue vs normal fatigue, why these differences matter, and how patients and caregivers can better understand and manage this symptom.

What is Breast Cancer-Related Fatigue?

Breast cancer-related fatigue is a persistent, distressing sense of physical, emotional and/or mental exhaustion that is disproportionate to recent activity and is not relieved by rest or sleep.

This is one of the most common and challenging aspects of breast cancer and it often affects daily life more than people expect. Individuals experiencing this type of fatigue may notice a loss of energy that impacts their ability to concentrate, work, socialise, exercise, or even manage basic household tasks.

Unlike normal tiredness, which is usually resolved with rest, breast cancer fatigue can last for weeks or months with no real relief.

Causes of breast cancer-related fatigue include:

• Biological factors: cancer burden, inflammation and changes in metabolism caused by the breast cancer itself.
• Psychological factors: stress, anxiety, and depression can significantly contribute to exhaustion.
• Treatment-related factors: chemotherapy and immunotherapy, radiation therapy, surgery, and hormone therapy are all known to cause fatigue.

Recognising and managing fatigue is an important part of improving quality of life for people with breast cancer.  Breast Cancer Trials is dedicated to research that not only finds better treatments and prevention strategies but also improves the quality of life of patients during and after treatment.

Breast Cancer-Related Fatigue vs Normal Fatigue

Understanding the distinction between normal fatigue vs breast cancer fatigue is necessary for both patients and caregivers.

Scenario: A person with normal tiredness may feel refreshed after a weekend off. Someone with breast cancer fatigue may wake up exhausted despite sleeping for 10 hours.

Patients often share similar experiences on forums such as reddit, which helps validate these feelings for others living through it. One patient described their experience:

• “I am exhausted. This is my 3rd day off, and I still feel utterly shattered. I know not sleeping well doesn’t help, but my body feels devoid of energy.” – shared in an online support forum.

BCNA have an online network where patients share their experiences with breast cancer fatigue.

• “I remember the fatigue from radiation was overwhelming at the end. I remember sitting at the traffic lights thinking l wonder if l just put my head down on the wheel would anyone notice. Worst ever tiredness. Sleep sleep and more sleep.” – Adean.

Hearing real-life experiences like this reassures people that they are not alone – and that what they are experiencing is a recognised symptom of breast cancer, not simply a sign of “not trying hard enough.” This distinction is important for self-compassion, for seeking appropriate medical advice, and for ensuring fatigue is addressed as part of holistic breast cancer care.

Does Breast Cancer Make You Tired?

Breast cancer can cause significant tiredness, even before treatment begins. This is often surprising for patients who expect fatigue to be linked only to treatments such as chemotherapy or radiation therapy, but the cancer itself can cause profound tiredness.

Why does breast cancer cause fatigue?

Fatigue in breast cancer is often multi-factorial, meaning there are several overlapping causes:

Biological factors

• Cancer cells consume a significant amount of the body’s energy as they grow and divide.
• The presence of cancer triggers the release of chemicals called cytokines, which are part of the immune system’s inflammatory response. These chemicals can disrupt how your body produces and uses energy, leading to fatigue.

Emotional and psychological stress

• A breast cancer diagnosis can lead to heightened anxiety, stress and even depression, all of which can drain energy levels.
• Sleep is often disrupted by worry, contributing further to tiredness.

Physical changes

• Pain or discomfort caused by the tumour itself can make it harder to rest properly.
• Appetite loss, nausea or changes in eating patterns can reduce calorie intake, leaving the body with less fuel for daily activities.

What Stage of Breast Cancer Causes Fatigue?

Breast cancer fatigue can occur at any stage of breast cancer, from early diagnosis to advanced disease. It is not limited to later stages or to periods during treatment.

For many with early breast ancer, fatigue may occur even before treatment begins. This can be caused by the physical effects of the breast cancer on the body, such as:

• Inflammation and changes in metabolism
• The emotional impact of receiving a diagnosis.
• Diagnosis shock – the stress, anxiety and disrupted sleep that often follow the news can significantly drain energy and contribute to early fatigue.

With metastatic breast cancer, fatigue may become more severe due to a higher cancer burden, more intensive treatment, or complications from the disease like pain. However, it’s important to note that even when the cancer is small or localised, the body’s immune and stress responses can still trigger significant tiredness.

When considering which stage of breast cancer causes fatigue, it is less about pinpointing one phase of illness and more about understanding that fatigue is possible at any point. This knowledge helps patients and caregivers take symptoms seriously, seek support early, and manage fatigue as part of comprehensive breast cancer care.

Breast Cancer Fatigue Before Treatment Begins

Fatigue can occur at any stage of breast cancer – and for some people, it appears well before treatment begins. This early fatigue can be driven by a mix of physical changes caused by the cancer itself and the emotional impact of receiving a diagnosis.

Fatigue before breast cancer diagnosis – physiological changes

Before treatment starts, the body may respond to an emerging tumour with inflammatory changes that can disrupt metabolism, leading to loss of energy and significant tiredness. Immune system activation and hormonal disruption, such as changes in cortisol, can also cause breast cancer fatigue symptoms even before treatment begins.

In the CANcer TOxicity (CANTO) cohort study, 24.3% of women with stage I to III breast cancer reported severe fatigue at diagnosis – before any treatment had begun. This shows that early-stage breast cancer and fatigue are linked, and that early-stage breast cancer can cause fatigue.

Breast cancer fatigue before treatment – emotional impact

The period immediately after a breast cancer diagnosis can also be exhausting on an emotional level. Diagnosis shock – with its stress, anxiety, disrupted sleep, and emotional upheaval can cause a persistent “mental fog” that makes daily life feel overwhelming. For some, this emotional strain combines with existing physical tiredness, leading to breast cancer fatigue before treatment has begun.

Recognising fatigue before treatment validates patients’ experiences and ensures it is addressed early. By acknowledging that both physical and emotional factors can drive fatigue before a single treatment session has begun, patients can be offered supportive care strategies sooner, improving quality of life from the very start of their breast cancer journey.

Fatigue During and After Breast Cancer Treatment

Radiation Therapy and Fatigue

Fatigue from radiation therapy for breast cancer usually develops gradually rather than appearing suddenly. For most patients, it starts as mild fatigue in the early weeks, then peaks toward the end or even after the treatment course is completed. This is due to the body’s need to repair the healthy tissue that is also affected by radiation, alongside the effect of radiation on the cancer cells.

How long fatigue lasts after radiation for breast cancer varies from person to person. Many people notice improvement within two to four weeks after finishing treatment, but for others, fatigue can persist for several months as the body continues to recover.

Practical ways to manage radiation-related fatigue include:

• Staying well-hydrated to support overall health and energy.
• Engaging in gentle physical activity, such as walking or stretching, which research shows can help restore energy levels.
• Prioritising rest and scheduling tasks for times of day when energy is highest.

Breast Cancer Trials EXPERT trial is exploring whether the Prosigna genomic test of breast cancer tissue can identify women who can safely avoid radiation therapy after breast cancer surgery, potentially avoiding the fatigue it can cause. The PROSPECTIVE trial is another radiotherapy omission trial, examining whether MRI can detect patients who can be successfully treated with surgery without radiotherapy, reducing side effects like fatigue and lowering the overall treatment burden.

Surgery, Chemotherapy, and Hormone Therapy Fatigue

Different breast cancer treatments can cause fatigue in different ways. The type, timing, and intensity of fatigue will depend on the treatment and the individual.

Surgery

Post-surgery fatigue is common due to the body’s healing process, the lingering effects of anaesthesia, and pain medications. Recovery may take several weeks, and for some people, emotional stress can make tiredness more noticeable.

Chemotherapy

Chemotherapy often leads to intense, prolonged fatigue because it impacts healthy cells as well as cancer cells. Immune suppression, anaemia, and the body’s efforts to clear treatment toxins all contribute to low energy.

The OPTIMA trial is testing whether the Prosigna genomic test of breast cancer tissue can help identify individuals who can safely avoid chemotherapy and its potential side effects, including severe fatigue, when the treatment is unlikely to provide additional benefit.

Hormone Therapy

Hormone therapy, typically taken for years after initial treatment, can lead to ongoing low-grade fatigue due to hormone changes, particularly reduced oestrogen. These changes can affect sleep quality, mood, and overall energy balance.

Is Fatigue a Sign of Breast Cancer Recurrence?

While fatigue is a common symptom of breast cancer, fatigue alone is rarely a sign of breast cancer recurrence. However, new or worsening fatigue should be discussed with your medical practitioner.

Other symptoms to watch for include:

• New pain or lumps.
• Unexplained weight loss.
• Persistent nausea or other changes in health.

How to Manage Breast Cancer-Related Fatigue

Feeling a persistent lack of energy and motivation is one of the most frustrating aspects of breast cancer-related fatigue. For many people, it’s not just physical tiredness – it’s also the lack of motivation or energy to take part in the activities they once enjoyed. Even simple daily tasks can feel overwhelming, leaving you feeling constantly tired and unable to recharge.

Managing breast cancer-related fatigue symptoms requires a versatile approach:

• Gentle exercise (like walking or yoga) can help maintain energy.
• Prioritise quality sleep and rest.
• Maintain a balanced diet – read dietitian Dr Cindy Tan’s advice.
• Keep a fatigue diary to track patterns.
• Access emotional support and counselling.

If fatigue is persistent, worsening, or affecting the ability to carry out daily activities, it’s time to seek professional support. This is especially important if fatigue is accompanied by other symptoms like breathlessness, dizziness, or unexplained pain.

Through Breast Cancer Trials’ research program we’re exploring ways to better understand and manage side effects like fatigue, and shape future treatments.

When to Seek Help for Breast Cancer Fatigue

Fatigue is more than just tiredness. Seek medical advice if fatigue:

• Interferes with daily tasks like bathing, eating or walking.
• Is worsening over time.
• Impacts your safety (e.g. falling asleep at work or while driving).

Managing fatigue is part of holistic breast cancer care. Your doctor can help rule out other causes like anaemia or thyroid issues.

Frequently Asked Questions

Does breast cancer make you tired before treatment?

Yes, many patients report fatigue even before treatment begins. This early tiredness can be caused by the body’s immune response to the tumour, inflammation, and the stress of the diagnosis process. The emotional impact – including shock, anxiety, and disrupted sleep – can also contribute.

How long does fatigue last after radiation treatment for breast cancer?

Fatigue from radiation therapy often builds gradually during the treatment course and peaks toward the end. Most people experience tiredness for several weeks after treatment finishes, though in some cases it can persist for a few months. The length and severity of fatigue depend on factors such as treatment intensity, duration and overall health.

Can early stage breast cancer cause fatigue?

Yes, even early-stage breast cancer can cause fatigue. The cancer itself may release substances that affect metabolism and energy production, while emotional stress, anxiety, and sleep disruption around the time of diagnosis can add to the problem.

Is fatigue after surgery normal?

Yes – fatigue is very common after breast cancer surgery. It can be caused by the body’s healing process, the lingering effects of anaesthesia, pain medications, and emotional stress. For most patients, energy levels gradually improve over time, but some may continue to feel tired for weeks or even months post-surgery.

How can I tell if my fatigue is normal or breast cancer-related?

Breast cancer-related fatigue is typically persistent and not relieved by rest or sleep. It may feel overwhelming and affect concentration, emotions, and physical ability. If you are tired all day despite getting enough sleep, or if fatigue is interfering with your daily life, it could be cancer-related.

Sources:

https://forum.breastcancernow.org/t/normal-fatigue/132672?

https://onlinenetwork.bcna.org.au/discussions/side-effects/fatigue/178218

clinical-breast-cancer.com+4sciencedirect.com+4ascopost.com+4cheneyclinic.com

https://ascopost.com/news/february-2022/predictive-model-for-severe-fatigue-after-breast-cancer-diagnosis/

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On September 24, we will be discussing the side efects of treatment.

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Breast lymphoedema is the build-up of lymphatic fluid in the breast and/or chest wall. This can lead to swelling, discomfort, and changes in skin texture. This can develop when the lymphatic system is damaged or disrupted, by breast cancer itself or following breast cancer treatments such as surgery, lymph node removal, or radiation therapy that may damage or disrupt the lymphatic system. This condition is distinct from the more widely known arm lymphoedema and may occur even when arm swelling is not present.

For many, breast lymphoedema develops gradually, sometimes appearing weeks, months or even years after treatment. Lymphoedema of the breast is usually caused by treatment rather than the cancer itself. While it may not be life-threatening, it can significantly affect quality of life if not managed. People who have experienced lymphoedema after breast cancer surgery should be aware of the signs and seek early advice from their healthcare team.

At Breast Cancer Trials, we are dedicated to improving treatment outcomes and managing side effects particularly through treatment optimisation.

What Does Breast Lymphoedema Look Like?

The appearance and feel of breast lymphoedema can vary. Common breast lymphoedema symptoms include:

• Swelling or puffiness in the breast
• Feelings of heaviness or fullness
• Tightness in the skin or surrounding breast tissue
• Redness or warmth
• Tenderness when touched

Less common breast lymphoedema symptoms include:

• Skin thickening
• Dimpling
• Or changes in texture over time

These symptoms can be subtle and may fluctuate, so familiarity with what is normal for you is important for early detection.

While this guide is designed to help you recognise the signs, it is important to remember that symptoms can be confused with other conditions, such as infection, inflammation, breast cancer recurrence, or the skin effects of radiation treatment. Knowing what breast lymphoedema looks like and the symptoms can help individuals and healthcare providers distinguish it from these other concerns and seek appropriate treatment sooner. Early detection can improve comfort and reduce the risk of lymphoedema progression, reaffirming the importance of seeking medical advice promptly.

How Common is Breast Lymphoedema?

Breast lymphoedema occurs less frequently than arm lymphoedema. It is more likely after treatments that affect lymphatic drainage, including axillary surgery, radiation therapy to the chest wall, and infections or injuries in the breast area after treatment.

Australian studies and clinical experience indicate the condition is often underdiagnosed, partly because symptoms may be mild or delayed. While Breast Cancer Trials does not conduct research specifically into breast lymphoedema incidence, many of our clinical trials focus on treatment optimisation to improve quality of life and reduce treatment side effects wherever possible.

What Percentage of Breast Cancer Patients Get Lymphoedema?

An Australian survey conducted via Breast Cancer Network Australia found that 35% of women reported having lymphoedema after breast cancer treatment, with an additional 9% unsure whether they had it. This highlights the likelihood of underdiagnosis and the need for improved awareness.

In addition, Cancer Council Australia notes that one study estimated lymphoedema occurs in about 20% of people treated for cancers such as breast, melanoma, gynaecological, or prostate cancers. While this percentage includes lymphoedema in areas other than the breast, it reinforces that lymphoedema is a common side effect of cancer treatment.

Breast lymphoedema is a side effect for people treated for breast cancer, regardless of whether they have a mastectomy or breast-conserving surgery (also known as a lumpectomy). Because the risk is present across treatment types, it’s important for anyone who has undergone surgery and/or radiation to be aware of early signs and to have regular follow-up, so that any lymphoedema can be managed promptly.

Causes of Breast Lymphoedema

Breast lymphoedema develops when lymphatic drainage is disrupted, leading to fluid build-up in breast tissue. This may occur after lymph node removal (sentinel node biopsy or axillary clearance) and radiation therapy, and can be worsened by trauma to lymphatic vessels, inflammation, scar tissue, or fibrosis.

Certain chemotherapy drugs, infections, or injury to the breast or chest area post-treatment can also contribute. A related condition, known as cording after breast cancer, can sometimes occur alongside or after breast lymphoedema.

Breast Lymphoedema After Radiation

Radiation can damage lymphatic vessels, narrowing or scarring them and reducing fluid drainage. People who receive radiation to the breast, chest wall, axilla, or collarbone area may develop breast lymphoedema months or even years after treatment.

The EXPERT clinical trial, led by Breast Cancer Trials, is investigating whether some people can safely avoid radiotherapy after breast cancer surgery. By identifying those who may not need radiation, the trial aims to help them avoid potential side effects, including breast lymphoedema.

How to Avoid Lymphoedema After Lymph Node Removal

Although there is no guaranteed way to avoid breast lymphoedema, adopting certain strategies can reduce your risk. Recommendations for the prevention of breast lymphoedema include:

• Maintaining good skin health to prevent infection
• Avoiding injuries or burns to the breast or chest area
• Wearing supportive and well-fitting bras
• Keeping physically active
• Maintaining a healthy weight

For people looking at how to avoid lymphoedema after lymph node removal, gentle stretching and strengthening exercises approved by a physiotherapist can help keep lymph fluid moving. Early reporting of swelling or changes to your doctor remains the most important step.

Breast Lymphoedema Compression and Other Management Options

Breast lymphoedema compression therapy is one of the most effective ways to manage swelling and improve comfort. Compression garments for lymphoedema, such as specially designed bras or pads, apply gentle pressure to the affected area to help move lymph fluid away from the breast.

For people with both breast and arm swelling, compression arm sleeves for lymphoedema are available through hospitals, lymphoedema clinics, and medical suppliers. Management may also include:

• Manual lymph drainage by a qualified therapist
• Gentle exercise
• Skin care routines to prevent infection
• Temporary bandaging

Frequently Asked Questions

What’s the difference between primary and secondary lymphoedema?

Primary lymphoedema is caused by a genetic condition affecting the lymphatic system. Secondary lymphoedema develops after damage to the lymphatic system, such as from breast cancer treatments. Breast lymphoedema is considered to be a secondary lymphoedema.

Do compression sleeves help with breast lymphoedema?

Compression sleeves may help if swelling extends to the arm. For breast-only lymphoedema, a compression bra or pad is often more suitable to provide compression to the affected area and encourage drainage away from this area.

Is lymphoedema cancer?

No – lymphoedema is not cancer. It is a condition caused by a build-up of lymphatic fluid in tissues due to problems with the lymphatic system.

Can lymphoedema be cured?

While breast lymphoedema can’t always be permanently cured, symptoms can often be well managed. With breast lymphoedema treatment and self-care, swelling can reduce and comfort can improve.

Sources:

https://www.racgp.org.au/getattachment/5a01a899-35fd-47fe-a1c8-806be1967121/Breast-cancer-related-lymphoedema.aspx

https://www.cancer.org.au/assets/pdf/understanding-lymphoedema

Join Our Free Q&A Webinars

Don’t miss an opportunity to stay informed about the latest in breast cancer research and care. Join our FREE Q&A webinars, where we cover important topics like managing treatment side effects and supportive care.

On September 24, we will be discussing the side efects of treatment.

Breast Cancer Trials and Ongoing Research

At Breast Cancer Trials, we are committed to clinical research that optimises treatments to improve quality of life and reduce side effects, so that no lives are cut short by breast cancer.

Several of our current studies are focused on treatment optimisation, including trials like EXPERT, which is investigating whether some patients can safely avoid radiotherapy; PROSPECTIVE, which aims to find out if surgery without radiotherapy will still be effective at stopping the cancer coming back and reduce the side effects and cost of usual treatment; and OPTIMA, which is exploring how to tailor chemotherapy use more precisely. These studies aim to improve outcomes while reducing the impact of treatment side effects.

If you’d like to learn more about our current research or how to get involved, you can explore details about these  trials and other opportunities to participate, or sign up for our researcher’s newsletter via the form below to stay up to date.

A vaccine is a treatment that helps the body to develop immunity to a specific disease without causing the illness itself. Whilst vaccines traditionally target infectious disease, like chicken pox, a potential breast cancer vaccine has completed Phase 1 clinical trials, or the very first stage of testing in humans. This marks a significant development in cancer prevention research. This investigational vaccine is designed to train the body’s immune system to recognise and attack breast cancer cells before tumours can form – offering hope particularly for those at high risk of developing triple-negative breast cancer (TNBC), one of the most aggressive and difficult-to-treat subtypes.

The initial trial included women previously diagnosed with early-stage TNBC or with a strong family history of the disease. Early results suggest that the vaccine is safe and able to stimulate a strong response by the immune system. It is now progressing into Phase 2, or the next stage of research in humans, which will involve a larger and more diverse group of participants to further evaluate its efficacy in reducing breast cancer incidence.

Breast Cancer Trials’ View on the Research

Breast Cancer Trials, the largest independent clinical trials research group in Australia and New Zealand, is closely monitoring this emerging area of cancer vaccine news with keen interest.

While this vaccine appears promising in pre-clinical and very early trials in humans, previous anti-cancer vaccines in breast cancer have been ineffective. To date, the most successful vaccine to reduce cancer occurrence is the HPV, or human papillomavirus vaccine, which has dramatically reduced the number of cases of cervical as well as head and neck cancers. We look forward to the findings of further quality research into a breast cancer vaccine, which is peer reviewed and independently analysed.

Other Vaccine Research for Breast Cancer

Beyond triple-negative breast cancer, researchers are exploring vaccines for other breast cancer subtypes. For instance, the Moffitt Cancer Center has developed a dendritic cell vaccine targeting HER2-positive, oestrogen receptor-negative breast cancer. In a pilot study, this vaccine, combined with standard chemotherapy, demonstrated both safety and positive response rates, with complete tumour disappearance observed in a notable percentage of .

Additionally, mRNA vaccine platforms, accelerated by COVID-19 vaccine development, are being investigated for their potential in breast cancer treatment, offering a novel approach to stimulate the immune system against cancer cells.

While these developments are promising, it’s important to note that breast cancer vaccines are still in the early stages of clinical trials. Further research is needed to confirm their efficacy and safety across larger, more diverse groups of patients. If subsequent trials are successful, these vaccines could become a pivotal component in breast cancer prevention and treatment strategies, with the hope of transforming the landscape of cancer care in the coming years.

Research into Cancer Vaccines

The development of the human papillomavirus (HPV) vaccine was a landmark achievement in cancer prevention, with Australian researchers playing a pivotal role. Professor Ian Frazer and the late Dr Jian Zhou at the University of Queensland led the groundbreaking research in the 1990s that underpinned the creation of the first HPV vaccine. They developed a method to produce virus-like particles that mimic the HPV virus, triggering a strong immune response without using actual viral DNA. This work formed the basis for the Gardasil and Cervarix vaccines, which protect against the high-risk HPV strains responsible for the majority of cervical cancer cases, as well as several other cancers including throat, anal, and penile cancers.

Australia was also among the first countries to roll out a national HPV vaccination program in 2007, offering the vaccine free to school-aged girls and later extending it to boys. The impact has been profound: rates of HPV infection, cervical abnormalities, and genital warts have dropped significantly, and estimates predict that Australia could become the first country to effectively eliminate cervical cancer by as early as 2035. Australian researchers continue to lead in monitoring vaccine effectiveness, refining public health strategies, and expanding global access to HPV vaccination, particularly in low- and middle-income countries.

The hepatitis B vaccine is another cancer preventing vaccine. It plays a key role in preventing liver cancer caused by chronic hepatitis B infection, which is especially important in communities where the virus is more common. In Australia, the vaccine became part of the National Immunisation Program in 2000, with earlier targeted efforts for high-risk groups such as healthcare workers, Aboriginal and Torres Strait Islander communities, and migrants from countries with high hepatitis B rates. While the vaccine itself was developed internationally in the 1980s, Australian researchers and public health experts have played a significant role in improving vaccine delivery, surveillance, and community engagement.

These examples show how cancer vaccines can become a powerful tool in cancer prevention – adding to the importance of continued research into a vaccine for breast cancer.

Frequently Asked Questions

Is there a vaccine for breast cancer?

No. A breast cancer vaccine has shown encouraging results in early-stage clinical testing, particularly for triple-negative breast cancer. However, further trials are underway.

When will a breast cancer vaccine be available?

There is a breast cancer vaccine currently in early-stage clinical trials. If ongoing research confirms its safety and effectiveness, it could become available in future years. However, widespread availability will depend on further testing and regulatory approvals.

What is a cancer vaccine?

A cancer vaccine helps the immune system recognise and destroy cancer cells, either to prevent cancer from forming or to help treat it in its early stages.

Sources:

SITC 2024 Poster No 7999: Phase 1 Trial of alpha-lactalbumin vaccine in high risk operable triple negative breast cancer (TNBC) and patients at high genetic risk for TNBC.

About Breast Cancer Trials

Breast Cancer Trials is a world-leading research organisation dedicated to advancing breast cancer treatments through groundbreaking clinical trials, ensuring the most accurate and up-to-date information on skin changes and other breast cancer symptoms.

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The PALB2 (Partner and Localiser of BRCA2) gene plays an important role in maintaining the integrity of our DNA by assisting in its repair. PALB2 is considered a ‘cancer protection’ gene that helps protect against breast, ovarian, prostate and pancreatic cancers. Mutations in this gene can compromise this function, leading to an increased risk of developing breast, ovarian, prostate and pancreatic cancers.

While less common than BRCA1 and BRCA2 mutations, PALB2 mutations are considered moderate-risk factors for breast cancer. Having a good understanding of PALB2 gene is important for individuals with a strong family history of breast cancer. If the gene is detected it can inform cancer preventive measures and early cancer detection strategies.

What is the PALB2 Gene and PALB2 Mutation?

Genomic stability refers to the ability of our cells to maintain the integrity of their DNA, ensuring that cells divide safely and function properly without accumulating mutations that can lead to cancer. The PALB2 gene helps the body make a protein that works with another gene called BRCA2 to repair damaged DNA. Together, the PALB2 and BRCA genes maintain genomic stability by ensuring that DNA is properly repaired when damaged. This is crucial for keeping our cells healthy and preventing the development of cancer.

However, if there’s a mutation in the PALB2 gene, the repair process may not work properly, disrupting the normal mechanisms for DNA repair and increasing the risk of developing cancer, particularly breast cancer. This is because the loss of effective DNA repair compromises genomic stability, allowing potentially harmful mutations to accumulate in the body.

While the BRCA1 and BRCA2 genetic mutations are more widely known, PALB2 mutations can also significantly increase the risk of breast cancer, especially in those with a strong family history. These mutations are relatively uncommon, affecting up to 1.5% of individuals with a family history of breast cancer, but their impact on breast cancer risk can be substantial.

PALB2 mutations are different from BRCA1 and BRCA2 mutations in how they affect DNA repair. Normally, BRCA1 and BRCA2 work together to repair broken DNA. PALB2, on the other hand, interacts with both BRCA1 and BRCA2 to facilitate DNA repair more effectively. When there’s a mutation in PALB2, this process doesn’t work as well, which can increase the risk of developing cancer, including breast cancer.

Although PALB2 mutations don’t carry as high a risk of developing breast cancer as BRCA1 and BRCA2 mutations, they still pose a serious concern that warrants discussion with your doctor regarding appropriate cancer screening and preventative measures.

PALB2 and Breast Cancer Risk

Whilst PALB2 genetic mutations are rare, those who do have this mutation are three times more likely to develop breast cancer versus the those without the PALB2 gene mutation. PALB2 mutations also increase the average risk for ovarian, pancreatic and prostate cancer development.

Studies indicate that women with a PALB2 mutation have a substantially increased risk of developing breast cancer and a 5% risk of developing ovarian cancer over their lifetime and a 2-3% risk of developing pancreatic cancer.

PALB2 Gene Testing

Genetic testing for PALB2 mutations is recommended for individuals with a strong family history of breast cancer.

Consulting with a genetic counsellor is another factor to consider before undergoing testing, to understand the implications of the results. Testing typically involves a blood or saliva sample, and results can be positive, negative, or inconclusive where more evidence may develop in the future.

• A positive result indicates an increased risk of breast cancer.
• A negative result suggests no identified mutation and therefore no increased risk of breast cancer relating to this test.
• Inconclusive results may require further investigation or monitoring as sometimes faulty variations in genes are detected, but the significance of this variation has not been shown to increase the risk of breast cancer to date.

For more information on genetic testing and its benefits, visit Breast Cancer Trials’ Genetic Research page.

Living with a PALB2 Gene Mutation

A positive PALB2 mutation result means an individual has an increased risk of developing breast cancer compared to someone without this mutation. However, this does not mean that everyone with a PALB2 mutation will develop cancer.

Risk management strategies include:

• Increased Surveillance: Regular mammogram screenings or an MRI scan can help detect breast cancer early. In people with a faulty PALB2 gene, sometimes screening for pancreatic cancer with an MRI or ultrasound is performed. There is no reliable method of screening for ovarian cancer.
• Preventive Surgeries: Some individuals may opt for mastectomy to reduce risk of breast cancer or surgery to remove the ovaries and fallopian tubes to reduce the chance of getting ovarian cancer.
• Chemoprevention: Medications like tamoxifen may lower breast cancer risk for patients carrying faulty PALB2, BRCA1 or BRCA2 genes.

These options should be discussed with a medical professional to tailor a prevention plan that aligns with personal health and family history.

Latest Research and Clinical Trials

Breast Cancer Trials is actively involved in research to improve treatment outcomes for individuals. Participation in clinical trials can provide access to new therapies and contribute to advancing medical knowledge.

Understanding Your PALB2 Gene Status and Next Steps

Being aware of a PALB2 gene mutation is an important step in managing breast cancer risk. Individuals with a family history of breast cancer should consider genetic counselling to understand their risk and discuss appropriate preventive measures. For more information on genetic testing visit our research blog on genetic testing for breast cancer.

Breast Cancer Trials has a range of resources to explain the importance of supporting clinical trials, information on open clinical trials as well as the latest research in breast cancer prevention strategies.

Frequently Asked Questions (FAQ)

What does it mean when your PALB2 is positive?

A positive PALB2 result indicates a mutation in the gene, increasing the risk of developing breast cancer and possibly other cancers. It is essential to discuss the implications with a medical professional to determine appropriate monitoring and preventive strategies.

What is the lifetime risk of breast cancer with PALB2?

The lifetime risk of breast cancer for women with a PALB2 mutation varies. Studies suggest that women with a PALB2 mutation have a significantly increased risk of developing breast cancer, with some estimates indicating a lifetime risk of 53%. This risk is higher in younger women and those with a family history of breast cancer.

Sources:

• https://pmc.ncbi.nlm.nih.gov/articles/PMC3672826/
• https://www.eviq.org.au/cancer-genetics/adult/risk-management/1609-palb2-risk-management#lifetime-risk-of-cancer-tumour
• https://www.canceraustralia.gov.au/breast-cancer-risk-factors/risk-factors/rare-moderate-risk-genes
• https://www.inheritedcancers.org.au/i-want-to-test/genetic-mutations

About Breast Cancer Trials

Breast Cancer Trials is a world-leading research organisation dedicated to advancing breast cancer treatments through groundbreaking clinical trials, ensuring the most accurate and up-to-date information on skin changes and other breast cancer symptoms.

Sign up to our newsletter to stay up to date with the latest breakthroughs