I have been diagnosed with

Most people do not develop breast cancer. 

There are three major risk categories for breast cancer: low, moderate and high risk.

Low-Risk – Also referred to as ‘general population risk’, most people fall into this category and will not develop breast cancer in their lifetime. About 1 in 7 women and 1 in 542 men will develop breast cancer. The majority of breast cancers occur in women after age 50.

Moderate-Risk – In this category, the risk of breast cancer up to age 75 is between 1 in 8 and 1 in 4, although most people in this category will not develop breast cancer. This risk is 1.5 to 3 times the population average. 

High-Risk – Less than 1% of the population have a high risk of breast cancer. The risk of breast cancer up to age 75 is between 1 in 4 and 1 in 2. The individual risk may be higher or lower than this if genetic test results are known. 

For more information about breast cancer risk due to an inherited gene mutation read more here.

Breast cancer symptoms can vary for everyone, and some cancer may not have any obvious signs. 

The most common symptoms of breast cancer are:

Lump or thickening in the breast or underarm area – is often the first symptom of breast cancer. It may feel like a hard or firm area of the breast. It is often painless

Changes in the breast size or shape – may include swelling, skin irritation or redness that lasts a while despite possible use of antibiotics

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 – when 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.

Learn more about self-breast checks and breast screening.

Breast cancer can be classified into different types and subtypes based on the characteristics of the cancer cells and how they look under a microscope.

Ductal carcinoma In Situ (DCIS) – Non-invasive; starts in the cells that line the breast milk ducts. This type is an early form of breast cancer and is highly treatable. However, if it is untreated or left undetected, it may become a more invasive form of breast cancer – 

Invasive ductal carcinoma (IDC) – A common breast cancer that starts in the milk ducts and spreads to other parts of healthy breast tissue

Lobular carcinoma (LCIS) – Occurs in the lobules (the glands that produce milk) and does not spread into surrounding breast tissue. This type does not always need treatment and rarely becomes invasive

Invasive Lobular carcinoma (ILC) – The second most common type of breast cancer begins in the lobules. This type can sometimes be difficult to detect early with a mammogram

Inflammatory breast cancer – A rare and aggressive type of breast cancer that may not present with a noticeable lump but can cause swelling and redness in the breast due to the cancer cells spreading into the skin and lymphatics of the breast. Symptoms of this type may be similar to mastitis: skin redness and swelling, thickening of breast tissue, fever, and breast tenderness. These symptoms generally persist despite the use of oral antibiotics to treat a possible breast infection/mastitis.

Metastatic Breast Cancer (MBC) – This type of breast cancer is also categorised as Stage IV and has spread to other body parts, such as the lungs, liver, brain, or bones. Metastases can happen when:

• Cancer cells invade into nearby healthy lymph or blood vessels
• Cancer cells can migrate to a distant area where it gets lodged and invade the surrounding healthy tissue. There is a new (smaller) tumour growth at a distant site.

Paget's disease of the breast or nipple (mammary Paget's disease) – Paget’s disease is a rare type of cancer that affects the skin around the nipple and the areola, causing redness, scaling, and discharge from the nipple. These symptoms may initially be misdiagnosed with other infections or other skin conditions. This tends to present in older women.

Subtypes are based on the presence of specific proteins (biomarkers), and genes found in the tumour biology. Knowing this information, can help work out which treatments might be best suited for a particular cancer. There are three main subtypes of breast cancer:

Hormone receptor-positive (HR+) – This breast cancer subtype is fuelled by hormones such as estrogen and progesterone. HR+ breast cancer is often treated with hormonal therapy to block the effects of these hormones on the cancer cells. Breast cancers with these hormone receptors bind to estrogen and/or progesterone which facilitate the proliferation of the cancer cells.

Estrogen positive (ER+) and progesterone positive (PR+) – ER+ breast cancers make up about 80% of all breast cancers and have estrogen receptors on the surface of the cancer cells that can attach to the hormone estrogen. PR+ breast cancers have progesterone receptors on the surface of the cancer cells that can attach to the hormone progesterone. Sometimes, breast cancer cells can have estrogen and progesterone receptors on their surface, referred to as ER+/PR+. Both hormones play a vital role in developing and regulating the female reproductive system, helping maintain bone density, and affecting the skin, brain, and other organs.

The strength of hormone receptor positivity, meaning the number of estrogen or progesterone receptors on the surface of cancer cells, can vary between different breast cancers. All positive results – for either estrogen or progesterone receptors – will be classed as HR+ breast cancers and tend to be more responsive to hormonal therapy, whereas breast cancers that are hormone-receptor-negative with an Allred score of 0 will have little to no effect from hormonal therapy.

The strength of hormone receptor positivity can also affect the prognosis and treatment approach, which is why it is important for your doctor to test for both hormone receptors after your biopsy to get the most accurate diagnosis and treatment plan.

There are two types of hormone receptor positive breast cancers. Luminal A and Luminal B subtypes.

• Luminal A subtype – These are ER positive breast cancers that are low grade, slow growing and generally strongly ER and PR receptor positive. These cancers are not very aggressive and carry a good prognosis with complete treatment including endocrine treatment (hormone blocking drugs).
• Luminal B subtype – These are ER positive breast cancers that can be high grade, can grow more rapidly and are generally PR receptor weakly positive or negative. These cancers are often treated with chemotherapy and endocrine treatment.

HER2-positive breast cancers – These cancers test positive for a protein called human epidermal growth factor receptor 2 (HER2). This protein promotes the growth of cancer cells. HER2-positive breast cancers tend to be more aggressive than other types of breast cancer. With treatments including chemotherapy and targeted therapy that now specifically target HER2, the prognosis is good. HER2-positive breast cancers can be triple positive where ER and PR receptors are also positive in which case endocrine treatment (hormone blocking drugs) are often used.

Triple-negative breast cancer (TNBC) – TNBCs are breast cancers that are ER, PR and HER2 negative. They can be aggressive with sometimes a higher chance of recurrence after initial treatment. They can be fast-growing and therefore often first diagnosed when it has reached the later stages.

This subtype is characterised by the absence of the three main proteins that drive most types of breast cancer (HER2, estrogen receptors, and progesterone receptors). Triple-negative breast cancers do not respond to hormonal or targeted therapies. They are often treated with chemotherapy. Younger women with this subtype may have a genetic predisposition (that is, they may have a gene mutation such as BRCA) for their cancer but not always.

With many ongoing breast cancer trials and new drugs available, TNBCs are now also being treated effectively with a combination of chemotherapy and other systemic drugs.

Because of the complex nature of breast cancer, the severity and progression are categorised by stages and grades to help make a more accurate diagnosis and determine the most effective treatment plan. It is important to note that different stages and grades of breast cancer can affect treatment options and prognosis, but early detection and treatment can improve outcomes.

Your doctor will use the TNM system to determine your staging:

T - relates to the primary tumour, its size, and whether it has spread to nearby tissue
N - identifies if the cancer is in the lymph nodes
M - explains if the cancer has spread beyond the breast into other organs of the body

The different stages specify the size of tumours and if cancer cells have spread to other areas of your body.

Early breast cancer (also described as localised)

• Stage 0: Non-invasive breast cancer, where the abnormal cells are contained within the ducts or lobules (such as ductal carcinoma in situ)
• Stage I: Invasive; the cancer is small, around 2cm or less, and is confined to the breast.
• Stage II (may be divided into IIA or IIB): Invasive; the tumour is between 2-5cm and has likely spread to the nearby lymph nodes under the armpit.

Locally advanced breast cancer (also described as regional)

• Stage III (may be divided into IIIA, IIIB, IIIC): In this stage, cancer may be larger than 5cm and has spread to regional lymph nodes, or into the chest wall including the underlying muscle or overlying skin.

Metastatic breast cancer

• Stage IV: In this stage, the cancer has spread to distant organs, such as the bones, brain or lungs.

The pathologist will use the Nottingham Grading system to describe the abnormality of the tumour cells and discover how quickly the tumour cells are growing. The grading system looks at:

1. The size and shape of the nucleus (the “brain” of the cell)
2. The organisation of the cells and if they look like they are working together.
3. How many of the cells are dividing and growing.

Based upon the above criteria. The cancer is then graded from 1-3:

• Grade 1 (low): The cancer cells are growing slowly and do not look very disorganised compared to normal cells.
• Grade 2 (intermediate): The cancer cells are abnormal and look a bit more disorganised, but not as much as Grade 3 cells and grow at a moderate rate.
• Grade 3 (high): The cancer cells are highly abnormal, look very disorganised and growing rapidly.

A patient will be recommended treatment options for breast cancer based on many factors including the stage of cancer, the molecular subtype of cancer, overall health and personal preferences. 

For more information about your treatment plan, team and options click here

Learn more about the different surgery options available. 

Learn more about ‘Tumour Testing’ and if this should be considered after your diagnosis 

The road to good health following breast cancer is not always easy and is often difficult to navigate. Unfortunately the risk of recurrence for any person who has had a breast cancer diagnosis is never going to be zero. The risk of breast cancer recurrence is at its highest within the first two years after an initial diagnosis. As time passes, the risk of recurrence steadily decreases. For those who have had five-years cancer free, there is a relatively low risk of recurrence at allThe risk of recurrence of breast cancer after five years, also known as late-stage recurrence, is incredibly low. It is generally related to age, the stage of diagnosis, hormone receptor status, genetic information and lymph node involvement. 

When a late recurrence of breast cancer is found, your healthcare team will evaluate and categorise all the details for you to help you plan your treatment pathway. While breast cancer recurrences tend to be the same type and have the same hormone receptor status, for some people, it can change. This critical information will help to determine your treatment plan and give you the best chance for a successful outcome.For more information on cancer survivorship, see our Resources Centre.

Most women do not develop ovarian cancer. People who have a BRCA1/2, PALB2, BRIP1 or RAD51C gene mutation or who have Lynch Syndrome, have an increased risk of developing ovarian cancer. Still, even then, it does not mean every family member will develop cancer.

There are three major risk categories for ovarian cancer: low, moderate and high risk.

Low-Risk – Also known as ‘general population risk’, most women fall into this category, and they will not develop ovarian cancer in their lifetime. Fewer than 1 in 80 women will develop ovarian cancer with the majority of ovarian cancers occurring in women after age 50.

Moderate-Risk – Most women in this group will have an ovarian cancer risk up to the age of 75 of between 1 in 100 and 1 in 30. This risk is no more than 3 times the population average. If a woman has one immediate relative who has or has had ovarian cancer, then her ovarian risk may be slightly increased to about 4 in 100.

High-Risk – Less than 1% of the population have a high risk of ovarian cancer. The risk of ovarian cancer up to age 75 is between 1 in 30 and 1 in 2. The individual risk may be higher or lower than this if genetic test results are known.

The three main types of ovarian cancer are related to which ovarian cells are affected:

• Epithelial cells which form the outer layer of tissues around the ovary
• Sex cord-stromal cells which form the structural tissue cells in the ovaries 
• Germ cells which form the eggs.

Epithelial tumours

Epithelial is the most common type of ovarian cancer and accounts for approximately 90% of all ovarian cancer. 

Epithelial cancer occurs in the surface layer of cells covering the uterus. It is most common in women over the age of 50. Within this category of ovarian cancer, there are subgroups, with serous tumours being the most common. Traditionally, epithelial ovarian cancer is treated with a combination of surgery and chemotherapy. Hormone therapy may also be prescribed if required. 

Another type of epithelial ovarian cancer is called endometrioid, which is the same kind of cancer that can be found in the lining of the uterus. This type of tumour can occasionally be associated with endometriosis, although most women with endometriosis do not have this malignancy.

The third type of epithelial ovarian is called mucinous which makes mucus-like fluid and is believed to develop from the glands around the ovary.

Sex cord-stromal tumours

Sex cord-stromal tumours come from the stroma, which is the supporting structure around the ovary and affect the hormone-producing cells in the ovary. These types of cancers account for approximately 3%-5% of all primary ovarian cancers, and most are diagnosed at an early stage. They can be treated with surgery alone when caught early enough.

The most common type of sex cord-stromal tumours is called a granulosa or theca cell tumour. Sex cord-stromal tumours usually develop in women in their 30s and 40s but can occasionally develop in older women and young girls. 

When a woman has both a mass (growth) and bleeding, doctors consider the possibility of this type of ovarian tumour. A blood test will reveal whether a woman is producing a high level of a substance called inhibin, which in turn indicates a sex cord-stromal tumour.

Germ cell tumours

Germ cell tumours account for about 4% of all primary ovarian cancer diagnoses. These tumours arise in the ovarian cells that develop eggs and tend to develop in younger girls and women in their early 20s. 

Most germ cell ovarian tumours are diagnosed early and treated with surgery. Chemotherapy is not generally necessary unless the cancer is at a later stage.

Ovarian cancer is staged according to the International Federation of Gynaecology and Obstetrics (FIGO) system. There are 4 stages:

Stage I: cancer found in one or both ovaries or in the fallopian tubes.

Stage II: cancer in one or both ovaries or fallopian tubes as well as other organs in the pelvis, such as the uterus, bladder or bowel.

Stage III: cancer in one or both ovaries or fallopian tubes that has spread to the lining of the abdomen (peritoneum) or lymph nodes.

Stage IV: cancer has spread outside the abdomen to other organs such as lungs or liver.

There is no 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. It is important to familiarise yourself with the risk factors and symptoms to know when something is not normal.

The following symptoms are common of ovarian cancer and 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. If you know your body and what is normal, you can 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. To learn more about the signs and symptoms of ovarian cancer, visit Ovarian Cancer Australia’s website.

To assess any persistent symptoms associated with ovarian cancer, GPs have several options to determine if there is evidence of ovarian cancer depending on the age of the patient. 

Ultrasound
A transvaginal ultrasound is minimally invasive and does not include radiation. An ultrasound can be used as an initial screening test if a woman has persistent symptoms. If the ovary looks unusual, then additional assessments will be undertaken.

CA 125 test
For women who are menopausal, CA 125 test can be useful to measure the amount of cancer antigen 125 protein in the blood, which can indicate ovarian cancer. 

In younger women, the CA 125 test is not as reliable, as the blood test marker can be influenced by other factors such as having a period. 

Risk of malignancy index

If the ultrasound and CA 125 test indicate there is something unusual, the risk of malignancy index (RMI) will be used to help plan the patient’s next steps. The RMI is an algorithm which uses the results from the ultrasound, CA 125 test and menopausal status to predict ovarian cancer. 

If you have a family history of ovarian cancer and receive unusual ultrasound and CA 125 test results, you should be referred to a gynae-oncologist to discuss next steps to confirm if cancer is present. 

If you have been diagnosed with ovarian cancer, your doctor will recommend treatment based on:

• the location, type and stage of your cancer 
• your age and general health
• the severity of your symptoms
• if your cancer is related to a particular gene mutation
• if you plan to have children in the future, and 
• your own wishes.

If you have ovarian cancer, you may wish to undertake tumour testing as this could impact your treatment pathway. Learn more about ‘Tumour Testing’ and if this should be considered after your diagnosis

For more information about your treatment plan, team and options click here.

Learn more about the different surgery options available. 

The prostate, a small gland found only in men, is located at the base of the bladder. As men grow older, especially over the age of 50, the prostate normally gets bigger. This enlargement can block the passage of urine, causing problems. While this is commonly due to a non-cancerous enlargement, prostate cancer may also cause these problems.

Prostate cancer is a common disease with about 1 in 6 (17%) Australian men expected to develop prostate cancer before the age of 70. Prostate cancer is the most common cancer for men over 55 years of age and rarely occurs before the age of 50.

There is no single cause for prostate cancer. There are several risk factors which can influence someone’s chance of developing prostate cancer. The most important are:

• Being a man
• Getting older. More than two-thirds (70%) of men newly diagnosed with prostate cancer are over the age of 65
• Having a strong or significant family history of prostate, breast or ovarian cancer.

Approximately 5 - 10% of prostate cancers are due to a gene mutation inherited from either the 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.

A family history of prostate cancer means having one or more close blood relatives who have or have had prostate cancer.

Relatives could be on either the father’s or the mother’s side of the family.

The closest male blood relatives (not relatives by marriage) are fathers, brothers and sons and are called first-degree relatives. Uncles, nephews and grandfathers are second-degree relatives.

A family history of cancer can be due to:

• Chance, because cancer is common
• Common environmental and lifestyle factors among family members
• Having shared genetic factors such as a gene mutation which is related to cancer.

Prostate cancer is common with many men having relatives who have or had prostate cancer. Such men may be only slightly above the average risk. Some men have a ‘stronger’ family history where a number of their close male blood relatives have or had prostate cancer. Depending on the strength of the family history, the man may be at moderate or potentially high risk of developing prostate cancer.

Prostate cancer screening involves a PSA test usually every two years starting from age 50 however for those with a significant family history of cancer or known gene mutation, it is recommended to start from age 40. It’s best to discuss your personal situation with your doctor to work out a screening plan for your individual circumstances. 

For more information on family history and prostate cancer see the Prostate Cancer Foundation Australia’s website.

Read more about genetic testing here.

Pancreatic cancer occurs when abnormal cells in the pancreas grow uncontrollably, forming tumours. There are two main types of pancreatic cancer: exocrine and endocrine tumours.

Exocrine tumours make up about 95% of all pancreatic cancers and originate from enzyme-producing cells, commonly known as pancreatic ductal adenocarcinoma (PDAC). These aggressive tumours are difficult to treat and have a poor prognosis. They often begin in the cells lining the pancreas' ducts.

Endocrine tumours, also called neuroendocrine tumours, account for approximately 5% of all pancreatic cancers. They start in hormone-producing cells and tend to be less aggressive than exocrine tumours, resulting in a better prognosis overall.

Most cancers occur by chance when our cells become damaged. About 1 out of every 100 people (1%) will get pancreatic cancer. Some lifestyle habits like smoking, drinking a lot of alcohol, and being overweight increase the chance of getting pancreatic cancer. 

A small number (about 5-10%) of all pancreatic cancers have a genetic cause. Sometimes a gene mutation is found that explains why these families get cancer. 

Other families have “familial pancreatic cancer”, which means that they have a strong family history of pancreatic cancer, but genetic testing has not been done, or a gene mutation has not been found.

The majority of pancreatic cancer cases are considered to be random, or ‘sporadic’ occurrences. However, having a strong family history of pancreatic cancer is one of the few known risk factors. 

It is estimated that 5-10% of all cases of pancreatic cancer are hereditary. In some cases, this is attributed to established inherited cancer syndromes, where a known gene mutation is present in the family. 

The underlying genetic cause of pancreatic cancer in most families remains unknown, and this is termed Familial Pancreatic Cancer (FPC). FPC is defined by family history and describes kindreds with at least one pair of first-degree relatives affected (i.e. parent-child or sibling relationship). 

The Australian Pancreatic Genome Initiative has further information on the different inheritable aspects of pancreatic cancer. You can access it here Inherited Pancreatic Cancer. 

You can also read about the Pancreatic Cancer Familial Screening Program here.

If you are concerned about your family history of pancreatic cancer, talk to your GP about obtaining a referral to your local Genetic Service. 

Read more about genetic testing here.

Melanoma is a type of skin cancer which usually develops when moles become cancerous. In Australia, about 1 in 20 (5%) people will develop melanoma by the age of about 80 years. The chance of developing melanoma increases with age, but it affects people of all age groups. Melanoma is one of the most common forms of cancer in young adults.

A very small number (estimated at 1% - 2%) of the cases of melanoma in Australia involve an inherited gene mutation which stops the cancer protection gene working properly. 

Melanoma can occur anywhere on the skin – even areas that do not get exposed to the sun. In men, it is often found on the trunk (the area from the shoulders to the hips) or the head and neck and in women, on the lower legs.

When skin is exposed to the sun, the skin produces more pigment, causing the skin to tan, or darken. When these spots and surrounding tissue form benign (non-cancerous) growths they are called moles. Most moles will remain benign (harmless) and not develop into melanoma.

There is no single cause for melanoma. There are, however, several risk factors which can influence someone’s chance of developing melanoma.
The most important are:

• Sun exposure
• The number of moles a person has
• The colour of a person’s skin. A person who is fair-skinned is much more susceptible to skin damage and melanoma from sun exposure than someone with darker skin
• Having a family history of melanoma.

Can melanoma be inherited?

A family history of melanoma means having one or more close blood relatives who have or have had melanoma. Relatives could be on either the father’s or the mother’s side of the family

The closest blood relatives (not relatives by marriage) are parents, siblings and children and are called first-degree relatives. Aunts, uncles, nephews, nieces and grandparents are second-degree relatives.

A family history of melanoma can be due to:

• Chance
• Common environmental and lifestyle factors among family members including where a family lives, sun exposure and lifestyle.
• Having shared genetic factors, such as having the same skin colouring. 
• Inherited risk may also be due to an inherited gene mutation in the family which increases the risk of melanoma.

The Centre for Genetics Information has more information on Inherited Susceptibility of Melanoma 

Read more about genetic testing.

A family history of melanoma means having one or more close blood relatives who have or have had melanoma. Relatives could be on either the father’s or the mother’s side of the family

The closest blood relatives (not relatives by marriage) are parents, siblings and children and are called first-degree relatives. Aunts, uncles, nephews, nieces and grandparents are second-degree relatives.

A family history of melanoma can be due to:

• Chance
• Common environmental and lifestyle factors among family members including where a family lives, sun exposure and lifestyle.
• Having shared genetic factors, such as having the same skin colouring. 
• Inherited risk may also be due to an inherited gene mutation in the family which increases the risk of melanoma.

The Centre for Genetics Information has more information on Inherited Susceptibility of Melanoma 

Read more about genetic testing here

Bowel cancer generally refers to cancer of the large bowel, which is made up of the colon and rectum, and is therefore also known as colorectal cancer. Bowel cancer develops from the inner lining of the bowel and is usually preceded by growths called polyps, which may become invasive cancer if undetected. Bowel cancer is a common disease in the community. About 1 in 14 (7%) men and women will develop bowel cancer by the age of 85 years. 

A small number of cases (about 5%-10%) in Australia involve an inherited risk in developing bowel cancer. 

There is no single cause of bowel cancer. There are, however, several risk factors which can influence someone’s chance of developing bowel cancer. The risk is greater if you:  

• Are over 50 years, although bowel cancer can occur at any age
• Have had an inflammatory bowel disease, such as Crohn’s disease or ulcerative colitis 
• Have previously had special types of polyps, called adenomas, in the bowel 
• Have previously had any type of bowel cancer 
• Have a family history of bowel cancer.

A family history of bowel cancer means having one or more close blood relatives who have, or have had, bowel cancer. The closest blood relatives (not relatives by marriage) are parents, siblings and children and are called first-degree relatives. Aunts, uncles, nephews, nieces and grandparents are second degree relatives.

A family history of cancer can be due to:

• Chance
• Common environmental and lifestyle factors among family members
• Having shared genetic factors, such as an inherited mutated gene in the family which increases the risk of bowel cancer.

Many people know of a relative with bowel cancer just because bowel cancer is common. Such people may still be at average or slightly above the average risk for developing bowel cancer.  Some people have a stronger family history where a number of their close blood relatives have had bowel cancer, and /or they were diagnosed at a young age.

Depending on the pattern of cancers in the family, these people may be considered at moderate or potentially high risk of developing bowel cancer. If you have a strong family history of bowel cancer, it is good to speak to your GP who can refer you to a Genetic Service for assessment should it be warranted. 

Inherited gene mutations related to increased risk of bowel cancer

There are several gene mutations which can increase your risk of bowel cancer. It is recommended that people and their relatives with the inherited gene mutations outlined below seek management advice from a Genetic Service or medical specialist. National guidelines for healthcare professionals exist at the Cancer Institute NSW eviQ website.

• FAP (Familial adenomatous polyposis)
  

  People who have an adenomatous polyposis coli (APC) gene variant need regular bowel check-ups by having a colonoscopy from their early teenage years. Eventually they will need an operation to remove their bowel to prevent bowel cancer. It is also important for the upper gastrointestinal tract to be checked (called an endoscopy) from the age of 25 years.

• Lynch syndrome
  

  It is strongly recommended that people who have a mismatch repair (MMR) gene mutation (such as EPCAM, MLH1, MSH2 or MSH6) have regular check-ups, including a bowel test called colonoscopy. 

• MAP (MUTYH-Associated polyposis)
  

  People with MAP need regular bowel check-ups (colonoscopy) from the age of 20 years. If a large number of polyps are found and these cannot be managed by regular colonoscopy screening, an operation to remove the bowel and prevent cancer may be considered. From the age of 35 years, a check of the upper gastrointestinal tract (called an endoscopy) is required to check for polyps in the duodenum.

It is recommended that people with FAP, Lynch syndrome and MAP are referred by their doctor to a local Genetic Service for information and surveillance reminders. 

The Centre for Genetics Information has more information on Inherited Susceptibility of Bowel Cancer.

Read more about genetic testing here

Treatment options for your metastatic cancer will depend on several factors, including the type of cancer, the extent and location of metastasis, your overall health, and your own preferences. 

The main goal of treatment for metastatic disease is to slow the growth of the cancer, increase survival length and improve the quality of your life by managing symptoms.

All treatment decisions for metastatic cancer should be made in close consultation with your medical oncologist and multidisciplinary team. What treatment you are offered will be based on personalised recommendations given your specific diagnosis, stage, and overall health.

Cancer treatment research is constantly evolving with new treatments and interventions being developed and tested regularly. Over time or as the cancer responds or progresses new therapies and treatments might become available. Therefore, Inherited Cancers Australia encourages ongoing communication with your healthcare team to help make informed decisions and adjust treatment as needed.

Read more here about the common options for cancer treatment

It can take some time to process a diagnosis and treatment plan so often it can help to connect with support to help you come to terms with your diagnosis, learn how to live well with metastatic disease and to understand what your future holds.

There are many places you can turn to for support, including your medical team, cancer nurse, GP and of course, the Inherited Cancers Australia community. It is important to be gentle with yourself and reach out for support when you need it and ask your medical team anything you are unsure about.

For people with a metastatic or advanced diagnosis, being part of a clinical trial can provide you with access to novel treatment options and offer hope by providing treatments and therapies that can potentially allow you to live well for longer. It also provides you with the opportunity to contribute to ongoing cancer research efforts and support others who have had a similar diagnosis.

Click here to view our page on trials and research.

De novo cancer means you are diagnosed with stage IV or metastatic cancer from the very beginning. At your first diagnosis, the cancer has already spread beyond its initial site (e.g. breast, ovary, prostate) and into more distant parts of the body (e.g lung, liver, bone).

Getting a cancer diagnosis can be scary and for those with a de novo diagnosis, it can be completely overwhelming and cause a lot of anxiety. It is best to speak to your doctor about how you are feeling as they can provide referrals to other health professionals who specialise in supporting people through a difficult cancer diagnosis.

You can connect with the Inherited Cancers Australia community to learn about other people’s experiences in living through and managing an advanced cancer diagnosis.

One benefit of being new to the cancer health care system is that there might be more treatment options available to you as your cancer and body has not been exposed to any anti-cancer treatments before. 

The main goal of treatment for de novo cancer is to control the cancer. Treatment options for de novo cancer can vary widely depending on the type and stage of cancer, as well as the patient's overall health and individual circumstances.

To help you live well and live longer, it is likely that treatment for de novo cancer will be continuous. Similar to someone with a chronic disease who needs lifelong treatment to manage the condition, so too does someone with de novo metastatic cancer. 

If one treatment is no longer working effectively, your treatment team may switch to a new treatment and this will likely continue. With support from your treatment team, your cancer may never go away completely, but you can live well for longer with a de novo diagnosis. 

Read more here about the common options for cancer treatment

Advanced care planning is the process of having conversations and making plans about your future healthcare and treatment. Advanced care planning lets you have your say should you become seriously ill, unable to communicate your wishes or in the context of end-of-life situations. 

The goal of advanced care planning is to ensure that any medical care you receive aligns with your values, wishes and the medical outcomes you deem acceptable. 

Advanced care planning is important for several reasons:

• Empowerment – It empowers you to have a say in your medical care. Allowing you to remain autonomous and have your dignity respected even in challenging circumstances
• Helps support loved ones – Having a clear Advanced Care Plan can aid your loved ones to become more accepting of the care and treatment you receive. It can also help alleviate some of the stress and uncertainty that they may face when having to make difficult medical decisions on your behalf
• Ensures treatment alignment – An Advanced Care Plan helps ensure that medical treatments and interventions align with your personal beliefs and preferences, helping improve satisfaction with the end-of-life care you receive by ensuring that healthcare professionals are not providing unwanted treatment. 
• Promotes communication – Open conversations about end-of-life preferences can improve communication among family members and healthcare providers. It can help your wider support team understand your preferences and how to meet these.

Key components of advanced care planning include:

• Discussion of values and preferences – An Advanced Care Plan begins with open and honest conversations about your values, beliefs, and personal preferences about medical treatments, life-sustaining interventions, and your quality of life. This can include topics such as resuscitation (CPR), mechanical ventilation, ongoing treatment and hospice care
• Pick a healthcare proxy – A proxy is someone who you nominate to make decisions on your behalf should you become unable to do so yourself. Decide on a person (often a family member or close friend) who you would like to make medical decisions on your behalf.
• Creating advance directives – In order for your preferences to be legally binding an Advanced Care Directive is required. This is a legal document that specifies the types of treatment you would like to receive or avoid in relation to your cancer or any other medical condition you may have. See Advanced Care Planning Australia for information about what is legally binding in your state or territory. [https://www.advancecareplanning.org.au]
• Documenting preferences – Ensure your preferences are discussed with your healthcare team and documented in your medical records. This makes sure your treatment wishes are honoured by your medical team
• Review and updates – As your treatment or disease progresses or goes into remission, ensure your Advanced Care Plan represents any changes in your preferences or values accordingly.

Any adult, regardless of age or health status, can engage in discussions about healthcare treatment and end-of-life care to be better prepared for the unexpected. For those with a cancer diagnosis, it can be something that you should start considering from the outset of your initial diagnosis. These conversations can be hard and take some time to work through.

Advanced Care Planning Australia provides more information about how to think and talk about advance care planning, including information about how to ensure advance care planning documents are legal in your state or territory. 

For more information on metastatic cancer, see our Resources Hub.