Genetic Syndromes

Colorectal Surgeons Sydney are experienced with a variety of Genetic Syndromes, including:

Attenuated Familial Adenomatous Polyposis
Cowden Disease
Familial Adenomatous Polyposis (FAP)
Juvenile Polyposis
Lynch Syndrome
MYH-associated polyposis (MAP)
Peutz Jeghers Syndrome

Six percent of colorectal cancers are due to inherited genetic syndromes. These genetic syndromes typically increase the risk of developing polyps. The most common of these genetic syndromes is Lynch Syndrome (also called Hereditary Non-Polypsosis Colorectal Cancer). Patients with Lynch syndrome are particularly at risk adenomatous polyps as well as sessile serrated adenomas (SSI), both of which can progress to cancer.

Other genetic syndromes associated with a large number of polyps (polyposis) and hence risk of colorectal cancer include an autosomal dominant condition Familial Adenomatous Polyposis (FAP) where there are over 100 polyps in the colon (figure 1), and a weaker version of it called attenuated Familial Adenomatous Polyposis (FAP), where there are less than 100 polyps, and an autosomal dominant condition called MYH-associated polyposis (MAP).

Less common are the hamartomatous polyposis syndromes which include Peutz Jegher’s syndrome, Juvenile polyposis, and Cowden disease, which have a slightly increased risk of colorectal cancer.


Individuals with a strong family history of colorectal cancer have an inherited genetic predisposition. The aim should therefore be to correctly assess their risk, provide genetic counselling, genetic testing, and cancer preventative strategies and surgical treatment based on the particular genetic syndrome.

Risk assessment is based on thorough history taking, identifying cancer-affected member of the family pedigree. The germ-line mutation may ultimately be made by testing an appropriate family member.

Cancer mortality is clearly reduced in individuals with an inherited cancer syndrome who actively participate in regular screening and surveillance programs such as regular colonoscopies and gastroscopies.

Multidisciplinary approach

Inherited genetic syndromes not only have an increased risk of colorectal cancer, but also have an increased risk of cancer in other extra-colonic sites. For this reason, management of these multi-system disorders does not fall within the boundaries of a single specialty, but requires involvement from surgeons as well as gastroenterologists, gynaecologists, oncologist, general practitioners, and molecular geneticists.

Multidisciplinary familial cancer services are important in coordinating care in a multidisciplinary manner by providing the following support:

  • Ascertainment of families
  • Construction of family pedigrees
  • Verification of clinical and pathological data
  • Collection of tissue and blood samples
  • Maintenance of confidential and secure database of present and future generations of a family
  • Liaison with relevant health care professionals
  • Education and support and counselling
  • Identification of at-risk family members
  • Coordination of genetic counselling and testing
  • Coordination of cancer screening
  • Facilitation of multidisciplinary clinical management
  • Documentation of extended follow up

State-based familial cancer registers have been established in Australia, including:

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