Applications

1504 – Heritable mutations which increase risk in colorectal and endometrial cancer

Find out about the service or technology in this application and the medical condition it addresses. You can also view the application documents, the deadlines for providing consultation input and the outcome of the application when the MSAC process is complete.

  • Status Complete
  • Type New application
  • Pre-PASC consultation -
  • Pre-MSAC consultation -
  • Outcome Supported

Application details

Reason for application

New MBS item.

Service or technology in this application

Genetic testing should be considered in patients with a personal history of colorectal or endometrial cancer with potential hereditary genetic risk of >10% as assessed by their treating specialist. This would include: CRC with evidence of mismatch repair deficiency (MMR) and/or clinical evidence of a possible familial polyposis syndrome; and cascade testing of family members of patients identified with clinically actionable pathogenic mutations on the request of a medical specialist or clinical geneticist.The proposed genes for testing are as follows: APC, SMAD4, BMPR1A, MLH1, MSH2, MSH6, PMS2, STK11, GREM1, MUTYH, EPCAM* [*deletions associated with epigenic silencing of MSH2]

Type: Investigative

Medical condition this application addresses

Familial adenomatous polyposis (FAP), juvenile polyposis syndrome (JPS), Lynch syndrome (formerly known as hereditary nonpolyposis colorectal cancer (HNPCC)), Peutz-Jeghers syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and autosomal recessive colorectal adenomatous polyposis (MUTYH-associated polyposis or MAP) are all inheritable syndromes predisposing to colorectal and other epithelial cancers.

Meetings to consider this application

  • PASC meeting: -
  • ESC meeting: 8 June 2018
  • MSAC meeting: 26 - 27 July 2018