
Familial adenomatous polyposis (FAP)
Familial adenomatous polyposis (FAP) is a rare inherited condition. Less than 1% of all bowel cancers in the general population are due to FAP.People with FAP usually develop multiple (hundreds to thousands) small growths, called polyps, which carpet the colon. The polyps are adenomatous, which means they are immediate precursors to colon cancer. These generally appear in the teenage years and, if left untreated, inevitably progress to bowel cancer.
For those who have inherited the gene change, regular bowel surveillance is extremely important. Screening, generally by colonoscopy, is required to commence between the age of 10 to 15 years.
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Hereditary non-polyposis colorectal cancer (HNPCC)
Hereditary non-polyposis colorectal cancer (known as HNPCC) is a rare inherited bowel cancer syndrome. Less than 5% of all bowel cancer cases are HNPCC.People with HNPCC often develop large bowel cancer before the age of 50. They commonly have one or more adenomas (small polyps) in the bowel.
People not only have an increased chance of developing bowel cancer, but also cancer of the uterus and other types of cancer including ovary, kidney, ureter (tube that leads from the kidney to the bladder) small bowel, stomach and pancreas.
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Hereditary breast and ovarian cancer (BRCA1 and BRCA2)
About 5% of breast and ovarian cancers are due to an inherited faulty gene. Two genes involved in hereditary breast and ovarian cancer are often referred to as BRCA1 or BRCA2. Their names come from the abbreviation of the genes 'Breast Cancer One' and 'Breast Cancer Two'.Neurofibromatosis 2 (NF2)
Neurofibromatosis 2 (NF2) is a rare inherited disorder which causes tumours to grow on various types of nerves and which can also affect the development of non-nervous tissues such as the bone or the skin. Signs of NF2 usually appear when people are in their 20s, however may occur earlier or later in life.Further information:
NF2 and genetic testing for clinicians
NF2 and genetic testing for families
Von Hippel Lindau syndrome (VHL)
Von Hippel Lindau syndrome (VHL) is a rare inherited disease that can present in many different ways in family members. Very small blood vessels, or capillaries, knot together to form abnormal growths called angiomas. These angiomas may cause little or no problem in some family members, whereas others may have very serious health problems.
Further information:
VHL and genetic testing for clinicians
VHL and genetic testing for families
Retinoblastoma
Retinoblastoma is a very rare tumour of the immature cells of the retina in one or both eyes. This only occurs in babies or toddlers under the age of five. Some children have an inherited form of retinoblastoma.Further information:
Retinoblastoma and genetic testing for clinicians
Retinoblastoma and genetic testing for families


