Heritable mutations which increase risk in colorectal and endometrial cancer

Mittal, R, Kessels, S, Morona, J, Newton, S, Vogan, A, Schubert, C.
Record ID 32018000549
Original Title: Clinical Utility Card 1504
Authors' results and conclusions: Comparative safety - The relative safety of performing the proposed gene testing versus the main comparator primarily focused on the presentation of 'flow on' safety consequences that arise as a result of conducting the proposed services. It did not consider the immediate or delayed safety consequences of physically performing the service given the low risk nature of the blood collection to obtain a sample to conduct the test. Comparative effectiveness - In broad terms, the following benefits are expected through offering the proposed gene testing (primarily the benefits to mutation positive family members of the two more common conditions are presented)- 1) Lynch syndrome: a) Colorectal - increased life expectancy, significant reduction of bowel cancer risk equivalent to general population risk through more intensive surveillance; b) Endometrial and ovarian - hysterectomy and risk reducing salpingo-oophorectomy are interventions which significantly reduce the risk of both endometrial and ovarian cancer. 2) Familial adenomatous polyposis: systematic reviews have found that registration in dedicated registers, surveillance and colectomy are associated with a consistent and significant reduction in incidence and colorectal cancer-related mortality.
Project Status: Completed
Year Published: 2018
English language abstract: An English language summary is available
Publication Type: Other
Country: Australia
MeSH Terms
  • Genetic Predisposition to Disease
  • Colorectal Neoplasms
  • Endometrial Neoplasms
  • Lynch Syndrome II
  • Adenomatous Polyps
Organisation Name: Adelaide Health Technology Assessment
Contact Address: School of Public Health, Mail Drop 545, University of Adelaide, Adelaide SA 5005, AUSTRALIA, Tel: +61 8 8313 4617
Contact Name: ahta@adelaide.edu.au
Contact Email: ahta@adelaide.edu.au
Copyright: Adelaide Health Technology Assessment (AHTA)
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