Hereditary breast and ovarian cancera disease where abnormal cells split without control and spread to other nearby body tissue and/or organs syndrome (HBOC) is a rare genetic disorder that causes the development of multiple malignantcancerous, may grow and spread to other areas of the body (cancerous) tumours throughout the body. It is most commonly caused by a mutation in either BRCA1 or BRCA2 genes (breast cancer 1 or 2 respectively), however, other genes have also been linked to the disease.
Familial cancer syndromes, also known as hereditary cancer syndromes, are rare conditions that cause an increased riskthe possibility that something bad will happen of cancer as the result of inherited genetic mutations in certain cancer-related genes. They can affect both adults and children, however they generally develop in people at a younger age than normal. While familial cancer syndromes are not classified as cancer, they are equally as severe and can be life-threatening as they are associated with the development of various tumours throughout the body. Having a familial cancer syndrome does not guarantee the development of cancer, however the risk of developing cancer is higher than those who do not have a familial cancer syndrome.
HBOC tends to affect the sexes equally, and is generally diagnosed before the age of 50. However, anyone can develop this disease.
HBOC Related Tumours
HBOC is most commonly associated with the development of breast and ovarian cancers, however it has also been linked to other types of tumours. Some examples include:
- Breast cancer.
- Breast cancer (Male).
- Ovarian cancer, most commonly epithelial ovarian cancer.
- Fallopian tube cancer.
- Peritoneal cancer.
- Pancreatic cancer.
- Prostate cancer.
Treatment
When cancers are detected, they are staged and graded based on size, metastasiswhen the cancer has spread to other parts of the body, also known as mets, and how the cancer cellsthe basic structural and functional unit of all living things look under the microscope. Stagingthe process of determining how big the cancer is, where it started and if it has spread to other areas and grading helps your doctors determine the best treatment for you. However, each patient with HBOC will present with a unique disease behaviour, with varying tumoura tissue mass that forms from groups of unhealthy cells locations and symptoms. As such, there is no one treatment method that will work for everyone, and there is no standard staging system for this disease. Instead of staging and grading, your doctor will recommend a treatment plan based on the following factors:
- Type of tumours present.
- Whether the tumours are malignant (cancerous) or benignnot cancerous, can grow but will not spread to other body parts (non-cancerous).
- Tumour location.
- Whether or not malignant tumours have metastasised.
- Your age.
- General health.
- Your treatment preferences.
Your doctor may also recommend genetic testinga procedure that analyses DNA to identify changes in genes, chromosomes and proteins, which can be used to analyse tumour DNA to help determine which treatment has the greatest chance of success, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. They will then discuss the most appropriate treatment option for you.
Treatment options for tumours associated with HBOC may include:
- Surgerytreatment involving removal of cancerous tissue and/or tumours and a margin of healthy tissue around it to reduce recurrence to remove as much of the tumour(s) as possible – these will vary based on tumour type and location.
- Chemotherapya cancer treatment that uses drugs to kill or slow the growth of cancer cells, while minimising damage to healthy cells.
- Radiation therapya treatment that uses controlled doses of radiation to damage or kill cancer cells.
- Targeted therapymedication that targets specific molecular features of cancer cells.
- Immunotherapya treatment that uses a person's immune system to fight cancer.
- Hormone therapymedication that alters the levels of certain hormones in the body, such as oestrogen and progesterone.
- Clinical trialsresearch studies performed to test new treatments, tests or procedures and evaluate their effectiveness on various diseases.
- Palliative carea variety of practices and exercises used to provide pain relief and improve quality of life without curing the disease.
Cancer Screening
Once a diagnosisthe process of identifying a disease based on signs and symptoms, patient history and medical test results of HBOC has been confirmed, implementing a targeted screeningtesting for cancer or conditions that can lead to cancer before symptoms appear, also known as cancer screening plan becomes essential due to the increased risk of developing certain cancers. The content of this plan will vary from person to person based on the genetic mutation involved, your family’s history of cancer and the types of cancers that may be present. It will also outline the routine tests you should have and how regularly you should have them. Some recommendations for HBOC may include:
- Monthly self-breast examinations in females.
- Clinical breast examination every 6-12 months in females beginning at age 25.
- Annual mammograms in females beginning at age 30.
- Annual breast MRI beginning at age 25 in females (or earlier if breast cancer was detected in a relative before the age of 30).
- Monthly self-breast examinations in males starting at age 35.
- Annual clinical breast examination in males starting at age 35.
- Annual serum prostatea walnut-shaped gland in the male reproductive system that is responsible for producing semen - a bodily fluid that acts as a vessel for sperm transport during ejaculation specific antigen (PSA) bloodthe red bodily fluid that transports oxygen and other nutrients around the body testing in males with BRCA2 mutation beginning at age 40.
- Annual digital rectal examinationan examination conducted by a urologist where a finger (or digit) is inserted into the rectum to feel the anus in males with BRCA2 mutation beginning at age 40.
Screening options for HBOC may evolve as new technologies are developed and our understanding of the condition grows. It is essential to discuss your individual circumstances with your healthcare team to determine the most appropriate screening plan for you.
Risk factors
In most cases, HBOC is caused by a genetic mutation in either BRCA1 or BRCA2 genes, which are both tumour suppressor genes found in chromosomes 17 and 13 respectively. However, other genes can potentially also cause the disease, such as:
- PALB2 (partner and localiser of BRCA2, tumour suppressor gene).
- TP53 (tumour protein P53, tumour suppressor gene).
- STK11 (serine/threonine kinase 11, tumour suppressor gene).
- PTEN (phosphatase and tensin homolog, tumour suppressor gene).
- CDH1 (cadherin 1, tumour suppressor gene).
- MSH2 (mutS homolog 2, mismatch repair gene).
- MLH1 (mutL protein homolog 1, mismatch repair gene).
- MSH6 (mutS homolog 6, mismatch repair gene).
- PMS2 (PMS1 Homolog 2, mismatch repair gene).
- EPCAM (epithelial cell adhesion molecule, produces EpCAM protein and has close proximity to MSH2 gene, which may cause MSH2 to shut off in some cases).
HBOC is an autosomal dominant disorder, which means that you have a 50% chance of developing the condition if one of your parents carries the mutation.
Symptoms
The symptoms of HBOC often vary by the type(s) of tumours present. General symptoms of HBOC may include:
- A lump or lumpiness in the breast(s).
- A change in the size and/or shape of the breast.
- Swollen breasts.
- Changes to the nipple.
- Dimpling or indentation on the skin of the breast.
- A rash and/or itchiness of the breast.
- A scaly appearance and/or changes in the colour of the breast.
- Swelling or discomfort in the armpit or near the collarbone.
- Abdominal bloating/swelling.
- Abdominal/pelvic pain and/or pressure.
- Changes in appetite, such as feeling full quickly or not feeling hungry.
- Changes in urination, such as:
- Polyuriafrequent urination.
- Feeling like your bladdera hollow, muscular sac in the pelvis that stores urine isn’t empty after urination.
- Slow urine flow.
- Weaker bladder.
- Loss of bladder control.
- Changes in bowelportion of the digestive system that digests food (small bowel) and absorbs salts and water (large bowel); also called intestines habits, such as constipationa condition where a person has difficulty passing faeces/stools and diarrhoeafrequent discharge of watery or loose stools from the body.
- Unexplained weight loss or weight gain.
- Unexplained fatiguea state of extreme tiredness or exhaustion, can be physical or mental.
- Indigestion and/or heartburn.
- Changes in menstrual periods, such as irregular periods, unusual vaginal bleeding, or vaginal bleeding post menopause.
- Pain during sex.
- Incontinenceloss of control over release of urine or faeces.
- Blood in urine and/or semen.
- Erectile dysfunctionimpaired or abnormal function; not working properly.
- Pain when ejaculating.
- Bone pain.
- Jaundiceyellowing of the skin and the whites of the eyes.
- Nauseato feel sick or likely to vomit and/or vomiting.
Symptoms related to specific tumours can be found on our knowledgebase.
Not everyone with the symptoms above will have cancer, but see your general practitioner (GP) if you are concerned.
Diagnosis
If your doctor suspects you have tumours associated with HBOC, they may order some of the following tests to confirm the diagnosis and refer you to a specialist for treatment. The tests required for diagnosis will often vary based on the symptoms present, and where the tumour(s) are suspected to be located.
- Physical examinationan examination of your current symptoms, affected area(s) and overall medical history.
- Genetic testing.
- Pelvic examinationa physical exam of the external and internal female pelvic organs.
- Digital rectal examination (DRE).
- Blood teststesting done to measure the levels of certain substances in the blood.
- Imagingtests that create detailed images of areas inside the body tests, potentially including:
- Ultrasounda type of medical imaging that uses soundwaves to create detailed images of the body .
- MRI (magnetic resonance imaging)a type of medical imaging that uses radiowaves, a strong magnet and computer technology to create detailed images of the body.
- CT (computed tomography) scana type of medical imaging that uses x-rays and computer technology to create detailed images of the body.
- PET (positron emission tomography) scana type of medical imaging that uses radioactive tracers to create detailed images of the body.
- Mammograma type of medical imaging that uses x-rays to create detailed images of breast tissue.
- Exploratory procedures, such as an endoscopya procedure that involves inserting a long, flexible tube with a light and small camera (endoscope) into the body to view internal organs.
- Diagnostic laparoscopya minimally invasive surgical procedure that uses small incisions to access the body for procedures, often used for conditions that cannot be confirmed by scans and tests alone.
- Biopsyremoval of a section of tissue to analyse for cancer cells.