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

Page last updated: 18 September 2019

Application Detail

Description of Medical Service

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]

Description of Medical Condition

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.

Reason for Application

New MBS item

Medical Service Type


Previous Application Number

Not Applicable

Associated Documentation

Application Form

Application Form (PDF 1000 KB)
Application Form (Word 132 KB)

PICO Confirmation


Assessment Report


Public Summary Document

Public Summary Document (PDF 280 KB)
Public Summary Document (Word 100 KB)

Meetings for this Application




8 June 2018


26-27 July 2018