I want to know

Inherited cancer risk is cancer risk that is passed on through generations of a family via a gene mutation. The prevalence of carrying a gene mutation is detailed on this page.

We all have many different ‘cancer protection’ genes that control the growth and division of the cells in our bodies throughout our lives and stop normal functioning cells from developing into cancer.

However, changes or pathogenic variants in these cancer protection genes may cause cells to grow and divide in an uncontrolled way that becomes a tumour. For a cell to become cancerous, multiple changes must build up in a number of different ‘cancer protection’ genes within a cell over time.

Over time, as we age, our cancer protection genes accumulate changes that may increase the ‘burden’ or risk for developing cancer. If enough of these gene changes arise over time, the cell becomes cancerous (a ‘cancer cell’). This is the reason why the risk of cancer increases with age and most cancers occur in older people. The reason why these changes occur is thought to be a combination of genetic factors, environmental factors, and the process of aging.

People who have inherited a change in a cancer protection gene are more likely to have cancer develop in their lifetime compared to people who have not inherited this type of gene change. They often develop cancers at younger ages than the general population. This is because this gene change is present from birth and so their cells each start with a change in a cancer protection gene. This means that fewer additional changes need to happen to the cells’ protective genes for a cancer to develop.

The terms ‘gene mutations’, ‘gene faults’ and ‘gene changes’ are commonly used to describe inherited pathogenic variants in these cancer protection genes, and you may see and hear them used interchangeably.

Family health factors that can affect your risk of cancer include a relative or multiple relatives:

• diagnosed with certain types of cancer
• with a known gene mutation
• with cancers occurring at young ages (e.g. before age 40 years for breast or before age 50 for ovarian cancer) with cancer in both breasts
• who are male with breast cancer
• who have had both breast and ovarian cancer

Also having an ethnic background from a population where some mutations are more common e.g. Eastern European (Ashkenazi) Jewish ancestry.

iPrevent is a breast cancer assessment tool you can use if you have any of these factors in your family history. It helps understand whether you or your family may benefit from an assessment by a family cancer centre. If you have not had cancer and have a family history of cancer, you can use this online risk assessment.

There are personal lifestyle factors that impact your risk of cancer .

Our Family Health History Mapping Form is a simple tool to help you collect your family health history to discuss with your GP and understand more about your personal level of cancer risk.

The answers to these questions can help your GP assess your risk of cancer:

• Have you or any of your close relatives had cancer?
• What is their name, date of birth, what type of cancer did they have and how old were they when they were told they had cancer?
• Did any relatives have a genetic test? What was the result?
• Do you or your relatives have lifestyle risks for cancer? (e.g. Type-2 diabetes, smoking, or being overweight)

If possible, write down details about your parents, children, brothers, sisters, grandparents, aunts, uncles and cousins on both sides of the family, even if they don’t have cancer. If you have a pattern of certain types of cancer in many relatives, your GP may recommend you see a genetic counsellor. A genetic counsellor can help you to understand your risk and may be able to arrange genetic testing.

For more information and tips for talking to your family about their health history and what type of family health history you should record head to our ‘Resources’ centre.

Cancer is common – many people have someone in their family who has or had cancer. Sometimes more than one family member has experienced cancer.

Inherited cancer is uncommon. Approximately 5 - 10% of certain cancers are due to a gene mutation inherited from either a father or mother. A gene mutation increases the risk of cancer, but even then, it does not mean every family member will develop the cancer.

The prevalence and risks related to carrying a gene mutation is detailed on this page.

Click on the links below to read about specific cancers associated with inherited gene mutations:

• Breast cancer
• Ovarian cancer
  
• Prostate cancer
  
• Pancreatic cancer
  
• Melanoma
  
• Bowel Cancer

Know your risk. Change your future.

Take the online risk assessment

Head to our Resources Centre for more information 

Risk-reducing medication may be considered for use by people who have been assessed as being at increased risk of breast cancer (such as those who carry a gene mutation). These medications include Selective Estrogen Receptor Modulators (SERMs) such as Tamoxifen (which can work in women before and after menopause) and Raloxifene which has only been tested in postmenopausal women. The decision to take risk-reducing medication should only be made after a discussion with your medical team about all relevant risk management options, including screening, and risk-reducing surgery (if appropriate).

A mastectomy is the medical term for the surgical removal of one breast and is usually done to treat breast cancer.

‘Risk-reducing mastectomy’ is the term for the removal of both breasts to minimise the risk of cancer developing in healthy breast tissue that does not have cancer. This can also be called a bilateral prophylactic mastectomy.

When deciding whether risk-reducing mastectomy are right for you, it is important to know what is involved. Talking to a breast surgeon and (if required) a reconstructive surgeon about your situation is the best way of finding out what the surgery may involve and what it means for you. There are several different types of mastectomies.

Total mastectomy – A total mastectomy involves removing as much of the breast tissue as possible. The nipple, the areola and most of the skin covering the breast is also removed.

Skin-sparing mastectomy – This approach involves removing as much of the breast tissue as possible, as well as the nipple and areola. The skin that was covering the breast is preserved, making it easier to maintain the contour of the breast when reconstruction is done.

Nipple-sparing mastectomy – In this procedure, as much of the breast tissue as possible is removed while leaving in place all the skin, the nipple (which contains breast ducts) and the areola. This can leave slightly more tissue behind than with total or skin-sparing mastectomies.

Sometimes, a procedure called ‘nipple delay’ is done 1-3 weeks before the mastectomies. In this procedure, the blood supply to the nipple from the underlying breast tissue is cut so that the nipple gets used to being supplied by blood vessels from the surrounding skin instead. This can help reduce the risk of tissue death in the nipple when the mastectomies are done. A biopsy of the tissue under the nipple can be done at the same time as the nipple delay surgery to check that there are no cancer cells in the nipple.

In theory, if all the breast tissue is removed, your risk of developing breast cancer should be eliminated. In practice, all the breast tissue that can be seen by the surgeon is removed. Unfortunately, it is not possible to remove every single breast cell, so there is still a small risk (2-5%) of developing breast cancer after risk-reducing mastectomies. As with any surgery, everyone responds differently to mastectomies.

Breast reconstruction is a procedure where the breast is rebuilt either using implants, tissue from another part of the body or a combination of both techniques. It is performed by a breast and/or plastic surgeon with expertise in breast reconstruction. Reconstruction after mastectomies to reduce cancer risk is not the same as having surgery to enlarge the breasts for cosmetic reasons. There are different types of reconstruction procedures available, and your preference may depend on the amount of time you have to allow for being in hospital and recovery time. Although your preference is important, the type of surgery and method used will depend on many additional factors, some of which include your weight, body shape (and whether you’re a smoker, as this affects tissue healing). Other health issues such as diabetes or auto-immune conditions can also affect tissue healing. In addition to talking to your surgeon about reconstructive options, you may also find it useful to talk to other women who have had surgery to have a realistic expectation about the procedure. Reach out to the Inherited Cancers Australia community. 

Breast implants – Involves rebuilding a breast shape by inserting a breast implant under the skin and muscle on the chest. There are two main types of implant surgery: tissue expanders and direct to implant.

• Tissue expanders – Before inserting the implant, a special bag called a ‘tissue expander,’ is inserted underneath the muscles on the chest wall at the mastectomy surgery. Over the next few weeks or months, fluid is injected into the bag about once a week to stretch the muscle and skin. When the expander bag has reached the right size, a second operation is performed to remove the bag, and the permanent implant is inserted.
• Direct to implant – This procedure involves inserting an implant at the time of the mastectomy surgery. This involves shorter hospital stays and recovery periods and scarring only in and around the breast area. However, reconstructed breasts may not be as natural looking (when unclothed) as with other types of breast reconstruction. There are possible risks and complications with breast implants and they may have to be replaced or removed if there is an infection. Breast implants are not lifetime devices.

DIEP Flap – This technique is generally preferred for tissue reconstruction. A Deep Inferior Epigastric Perforator (DIEP) flap breast reconstruction rebuilds a breast shape by moving skin and fatty tissue from the abdomen to the chest. The term ‘DIEP’ is the name of the blood vessels that provide blood supply to the tissue that is moved. You must have enough abdominal fat but also not too much. This produces the most natural looking breast. The reconstructed breast will change in size if you gain or lose weight. There is less risk of abdominal wall weakness and hernia compared to the TRAM procedure as the abdominal muscle is not used for reconstruction. A quicker recovery than the TRAM procedure is expected as the abdominal muscle remains intact.

This procedure will result in a scar across the stomach, and there is a small risk the tissue moved to the chest will not ‘take’, meaning the tissue will die and if this happens another operation will be needed. The hospital stay and recovery time will be longer than with implant-only reconstruction and you won’t be able to drive or lift heavy objects for several weeks after surgery.

TRAM Flap – Transverse Rectus Abdominis Myocutaneous (TRAM) flap breast reconstruction involves rebuilding a breast shape by moving skin, fatty tissue and part of the rectus abdominis muscles from the abdomen to the chest. The rectus abdominis muscles run from the waist to the pubic bone (and are sometimes called ‘6 pack’ muscles). This will result in natural looking breasts that will change in size if you gain or lose weight.

You can expect a scar across the stomach, possible loss of strength in stomach muscles and risk of developing a hernia. There is also a small risk the tissue moved to the chest will not ‘take’ which will require further surgery.

Latissimus Dorsi Flap – This involves rebuilding a breast shape by moving skin, fatty tissue and muscle from the back (where the LD muscles are below the shoulder blades) to the chest. Tissue expanders (which are later replaced with permanent implants) are sometimes also used to create sufficient breast size. This results in a more natural looking breast than implant-only reconstructions and will change in size if you gain or lose weight.

You will have scar on your back and possible loss of strength in your arm. There is a small risk the tissue moved to the chest will not ‘take’ which will require further surgery.

Nipple and areola reconstruction – This can be done using skin from the breast or tissue from another part of the body. The area around the nipple can be coloured to match the other breast using a tattoo. The reconstructed nipple usually does not have any feeling. Some prefer to use a nipple prosthesis, which can be attached to the reconstructed breast using a special glue.

Fat grafting – In this approach, also called ‘autologous fat transfer’, fat tissue is removed from other body parts, usually thighs, belly and buttocks, by liposuction and injected into the breast area. This procedure is relatively new, so no large studies have been done on this technique and it is not widely offered.

You can choose not to have a breast reconstruction after a risk-reducing mastectomy, you have the option to go flat and if you choose to, you can wear a breast prosthesis. This is a personal decision and is one only you can make.

Reach out to the Inherited Cancers Australia community to learn about other people’s experiences in living with or without breast reconstruction.

To help with decision-making about breast reconstruction, BRECONDA is an online breast reconstruction decision aid that has been developed to help you through the decision-making process.

For women who have a gene mutation that increases their risk of ovarian cancer, the most effective way to reduce risk is to have surgery which may involve the following:

• Oophorectomy is a surgery to remove one or both of your ovaries.
• Unilateral oophorectomy is surgery to remove one ovary.
• Bilateral oophorectomy is surgery to remove both ovaries.
• Salpingo-oophorectomy is when the surgery is extended to remove the fallopian tubes as well as the ovaries.

This kind of surgery can be used to treat several problems related to a woman's reproductive organs, including ovarian cysts, abscesses, endometriosis, ovarian cancer and prevention of ovarian and fallopian tube cancer.

Sometimes, removal of the uterus (hysterectomy) may be done at the same time. This might be considered in specific situations, for example, if you have uterine problems that are causing symptoms.

Your surgeon will be able to talk you through the different options for surgery and the potential risks and complications.

There is also an option to remove the fallopian tubes, followed by the removal of ovaries at a later time, this is called a Risk Reducing Early Salpingectomy with Delayed Oophorectomy (RRESDO)

RRESDO requires a woman to undergo two operations, which of course means meeting the potential costs of two operations, and it is important to also consider the risk of complications during both surgeries. Although the surgeries are both uncomplicated, the risk of a complication is not zero and your surgeon will discuss this with you in detail during your consultation.

Removal of the Fallopian tubes alone (salpingectomies) is not an adequate long-term cancer risk reduction treatment. If you have had your Fallopian tubes removed and have a high ovarian cancer risk (because of a family history of ovarian cancer or a mutation), you may still be advised to have your ovaries removed.

Risk reducing bilateral salpingo-oophorectomy is the most effective way to reduce cancer risk in the ovaries and fallopian tubes to levels of less than 5%. There is no effective way to screen for ovarian or fallopian tube cancer. Risk-reducing surgery is usually recommended at around age 35 - 40 years, as risk before then is considered low.

Once the ovaries are removed, there is only a small amount of oestrogen still produced outside the ovaries, in other tissues. This means that you will be in menopause, but it is not possible to predict who will have symptoms and who will not. It is important to know that there are options to manage symptoms, including hormone replacement therapy (HRT).

Advice on HRT may vary with your level of breast cancer risk and history, whether you have had hormone-positive breast cancer, breast risk-reducing surgery, the type of HRT and the number of years it is used. HRT can help manage symptoms of menopause, in particular, hot flushes. Other major benefits of HRT use include protection against osteoporosis, cardiovascular disease and cognitive function. Other medications can assist with symptoms and there are specialist menopause clinics and other resources that can be accessed to support you. Talk to your GP or specialist and ask for a referral to a menopause clinic or endocrinologist for more support.

You can still have a healthy, vigorous life after risk-reducing gynaecological surgery, but it is important to know how you can deal with any side effects if they happen.

It is important to discuss this with your specialist before surgery and understand the options available to you and their impact on surgical menopause.

Please see our Resources Centre for more information on menopause.

Clinical breast examination – These are physical examinations done by physicians, nurse practitioners and other trained medical staff. The exams involve checking the look and feel of the breasts and underarm for any changes.

Mammography – This is a technique that uses X-rays to provide an image of inside the breast. Mammograms are used to find potential signs of breast cancer including tumours, small clusters of calcium (micro calcifications) and abnormal changes in the skin. For most people, mammography is the best screening tool available today for breast cancer.

For women over the age of 40, BreastScreen provides a free mammogram every two years, if you contact them to request one. For some women who have certain risk factors such as particular types of past breast disorders, annual screening is also available. One of the latest methods for diagnostic testing is the 3D MAMMOGRAPHY™ which helps to eliminate most detection challenges associated with conventional 2D mammography in a diagnostic setting. This may be performed in conjunction with an ultrasound and/or MRI. The following high-risk groups may be more suited to one:

• Have very dense breasts;
• Have a first degree relative with breast cancer;
• Have previously had radiotherapy that could increase their risk;
• Carry a gene mutation that increases the risk of breast cancer;
• Is of Ashkenazi Jewish heritage;
• And anyone who does not have a known genetic variant but has a significant family history of breast cancer (2 or 3 people in their wider family).

Ultrasound – This uses the same high frequency sound technology used to visualise the foetus in a pregnant woman but is applied to the breast tissue using equipment specific to the breast. The ultrasound examination does not use x-rays. Not all women are recommended to have a breast ultrasound as part of a standard breast cancer screening program - your doctor can advise whether there is any potential benefit to you in having an ultrasound alongside your mammogram.

Magnetic Resonance Imaging (MRI) – This uses magnetic fields to create an image of the breast that can be meticulously examined for abnormalities. It can also detect changes in the image that require more investigation (sometimes with ultrasound or a biopsy).

An MRI will provide the greatest benefit for high-risk people and people with a gene mutation. Women who have a very high risk of breast cancer may be eligible for an abbreviated MRI that provides even more detailed images. Abbreviated MRIs are not part of the standard routine screening offered by BreastScreen and are carried out elsewhere. Those eligible may have the cost subsidised by Medicare until they are 60.

While there is no set age to stop routine screening, it’s important to discuss with your GP or specialist who can carry out a breast assessment based on your individual circumstances As guidelines for high-risk breast screening can change, it is recommended you visit the EviQ website to check you are aware of the current recommendations. If you carry a gene mutation which predisposes you to breast cancer (such as BRCA), the best way to manage your risk is to be on a high-risk breast screening program. You can talk to your Genetic Service provider or GP for help accessing this service.

Not everyone who carries a gene mutation related to breast cancer will develop cancer. Breast cancer symptoms can vary for everyone, and some instances of cancer may not have any obvious signs, but below are the most common symptoms of breast cancer:

• Lump or thickening in the breast or underarm area – Often the first symptom of breast cancer, and it may feel like a hard/firm area of the breast. It is often painless
• Changes in the breast size or shape – May include swelling, redness (that lasts a while despite possible use of antibiotics), or skin irritation
• Nipple discharge – May be clear or blood-stained fluid that leaks from one or both nipples generally spontaneously (without pressing the nipple) and comes from a single nipple duct
• Inverted nipple – The nipple may turn inward instead of sticking out. This can be normal, however, any recent nipple inversion should be further investigated by your GP
• Changes in the breast’s skin texture – May include dimpling, puckering, or a rash on the nipple or surrounding breast area and may resemble the same texture as an orange peel (this is uncommon and usually presents with more advanced changes within the breast)
• Swelling in all or part of the breast – May occur even if there is no distinct lump.

Early detection can lead to the best possible outcome. Make sure you incorporate regular self-breast checks into your self-care routine and see your doctor immediately if you see or feel any unusual changes in your breasts.

Take the time to get to know the normal look and feel of your breasts as part of your daily routine, such as when you shower or look in the mirror. By knowing what is normal for you, you will be able to detect any new or unusual changes if they arise. By feeling your breasts once a month, you will get to know them and any changes that occur. If you notice a change make an appointment to see your doctor.

Follow this simple step by step guide on how to do a self-breast check:

1. Mirror check – Begin by looking at your breasts in the mirror with your shoulders straight and your arms pressing firmly on your hips to flex your chest muscles. Look for changes in your breasts’ size, shape, or contour. You want to look for dimpling, puckering, or skin bulging.
2. Raised arms – Raise your arms above your head and look for the same changes.
3. Fluid check – Look in the mirror for any signs of fluid coming out of one or both nipples (this could be a watery, milky, or yellow fluid or blood).
4. Lie down and get comfy – Lie flat on your back with a pillow under your right shoulder and your right arm behind your head. With your left hand, use the pads of your three middle fingers (keep them flat and together) to feel for lumps or thickening. Repeat on the left breast using your right hand. Make sure to check the entire breast and armpit area, pressing down with light, medium, and firm pressure to check the different levels of breast tissue while moving in a circular motion from the outer breast to the nipple.
5. Stand up or sit down – To complete the checking process, feel for any changes while standing up (you can also sit down if it’s more comfortable and accessible for you.) Many women find the easiest way to feel their breasts is when their skin is wet and slippery, so they like to do this step in the shower. Lather up the girls and repeat the same steps as above.

There isn’t a screening test for ovarian cancer, so the best thing you can do is know your body. Several risk factors may increase your risk of ovarian cancer and symptoms that can alert you to the presence of ovarian cancer. Carrying a gene mutation such as BRCA, PALB2, RAD51C or Lynch Syndrome, increases your risk of ovarian cancer. The best thing you can do is familiarise yourself with the risk factors and symptoms, so you know when something is not normal.

These usually occur suddenly and persistently get worse over time:

• Abdominal or pelvic pain
• Difficulty eating or filling more quickly than usual
• Loss of appetite
• Sudden or persistent bloating, this might feel like pressure from the inside
• Urinary abnormalities like using the bathroom more
• frequently or needing to go more urgently than usual
• Abnormal vaginal bleeding or discharge
• Persistent fatigue
• Pain during intercourse.

These symptoms may seem hard to differentiate from other less serious problems (such as digestion issues or a urinary tract infection). However, if you know your body and what kind of pain is normal, you will be able to identify when these kinds of symptoms are occurring in an unusual combination or are abnormally persistent.

If any of these symptoms occur in a way that is unusual for you, contact your GP as soon as possible.

Click on the links below to read about how breast and ovarian cancer are diagnosed:

Breast cancer
Ovarian cancer