Corporation name: Redacted ABN: Redacted Business trading name: Redacted Primary contact name: Redacted Primary contact numbers Business: Redacted Mobile: Redacted Email: Redacted Alternative contact name: Redacted Alternative contact numbers Business: Redacted Mobile: Redacted Email: Redacted (a) Are you a lobbyist acting on behalf of an Applicant? Yes No If yes, are you listed on the Register of Lobbyists? Yes No PART 2 – INFORMATION ABOUT THE PROPOSED MEDICAL SERVICE Application title Heritable mutations which increase risk in colorectal and endometrial cancer. Provide a succinct description of the medical condition relevant to the proposed service (no more than 150 words – further information will be requested at Part F of the Application Form) 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 polyposis or MAP) are all inheritable syndromes predisposing to colorectal and other epithelial cancers. Provide a succinct description of the proposed medical service (no more than 150 words – further information will be requested at Part 6 of the Application Form) 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.
PART 4 – SUMMARY OF EVIDENCE Provide an overview of all key journal articles or research published in the public domain related to the proposed service that is for your application (limiting these to the English language only). Please do not attach full text articles, this is just intended to be a summary. Type of study design* Title of journal article or research project (including any trial identifier or study lead if relevant) Short description of research (max 50 words)** Website link to journal article or research (if available) Date of publication*** For each key journal article or published research relating to your proposed service, insert the type of study design in this column and columns below Genetic testing for hereditary mutations in the mismatch repairs genes (MMR genes) For each key journal article or published research relating to your proposed service, insert a short description of research in this column and columns below For each key journal article or published research relating to your proposed service, insert the date of publication in this column and columns below 1 Clinical practice guidelines Clinical guidelines for the genetic testing for heritable mutations in the APC gene (requires user to register and create login, pdf available if preferred) 30 Sep 2015
4. Clinical practice guidelines Molecular testing strategies for Lynch syndrome in people with colorectal cancer Clinical practice guidelines for molecular testing strategies for Lynch syndrome Feb 2017 5. Study of diagnostic accuracy Population-based screening for Lynch Syndrome in Western Australia Results of screening for LS in Western Australia (WA) during 1994-2012. . 29 Jan 2014 6. Study of diagnostic accuracy Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database Collaborative study by International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to develop a standardised classification scheme for LS associated genes. . Feb 2014 7. Literature review Integrating personalised genomics into risk stratification models of population screening for colorectal cancer Review of literature relating to colorectal cancer including genetic risk stratification for CRC screening in younger individuals not included in the NBCSP. 2016
10. Clinical practice guidelines Familial colorectal cancer syndromes: an overview of clinical management Summary of the most common familial CRC syndromes and their medical and surgical management, with specific emphasis on evidence-based interventions that improve patient outcome. 16 Mar 2015 11. study Cancer risks for MLH1 and MSH2 mutation carriers Study of 17,576 members of 166 MLH1 and 224 MSH2 families from the Colon Cancer Family Registry in Australia. Results demonstrated the average CRC cumulative risks at the age of 70 years (95% confidence intervals) for MLH1 and MSH2 mutation carriers, respectively, were estimated to be 34% and 47% for male carriers and 36% and 37% for female carriers. Corresponding EC risks were 18% and 30%. Mar 2013 carrying
14. study The clinical phenotype of Lynch syndrome due to germline PMS2 mutations PMS2 mutation analysis using long range PCR and MLPA for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Results demonstrated that PMS2 mutations contribute significantly to Lynch syndrome but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Aug 2008 15. study Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome Families with Lynch syndrome from 40 French cancer genetics clinics participating in the ERISCAM (study; 537 families with segregating mutated genes (248 with MLH1; 256 with MSH2; and 33 with MSH6) were analysed for age-specific cumulative cancer risks. 8 Jun 2011
20. Cost benefit study A model-based assessment of the of strategies to identify Lynch syndrome in early-onset colorectal cancer patients Study of the cost–utility of strategies to identify Lynch syndrome in individuals with early-onset colorectal cancer in the UK National Health Service. . 25 Apr 2015 21. Clinical practice guidelines Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and the American Society of Clinical Oncology Clinical practice guidelines for the evaluation of CRC. . May 2017 22. Letter to the Editor Universal screening for microsatellite instability in colorectal cancer in the clinical genomics era: new recommendations, methods, and considerations Discussion of Clinical Practice Guidelines for testing of MMR MSI with summary of advantages and drawbacks of different conventional and NGS based methods for testing. 12 Apr 2017 utility