What is high risk screening for inherited cancer risk

What is high-risk screening?

Screening is one of the most effective ways to detect early signs of cancer. You can help manage your cancer risk by doing regular screenings and understanding the symptoms to look out for.

Screening is looking for cancer before a person has any symptoms. Finding cancer at an early stage increases the chances of successful treatment, improved survival and quality of life.

Breast screening for gene mutation carriers is more frequent and comprehensive than in the general population so it is important to be on a high-risk breast screening program. This can be organised through your Genetics Service.

What are the different types of breast screening?

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.

What are common breast cancer symptoms?

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.

How can I do a self-breast check?

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.

Can I screen for ovarian cancer?

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.

What are the common symptoms of ovarian cancer?

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

Learn more

What is my risk?

How can I reduce my risk?

What are lifestyle risk factors