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How can we best detect hereditary non-polyposis colorectal cancer?

Judy A Kirk
Med J Aust 2006; 184 (5): . || doi: 10.5694/j.1326-5377.2006.tb00202.x
Published online: 6 March 2006

New tumour testing methods can improve the accuracy of diagnosis

Although a strong genetic predisposition to colorectal cancer (CRC) is rare, it is important because of its large contribution to CRC diagnosed before the age of 50 years and because mortality from CRC can be reduced by appropriate management. There are currently limitations in determining whether a case of CRC is “sporadic” or whether it might be related to an inherited predisposition. However, Australian research that examines the utility of new diagnostic tools to help diagnose genetic tendency to CRC may be showing us a way forward.1,2


  • Familial Cancer Service, Westmead Institute for Cancer Research, Westmead Hospital, Westmead, NSW.


Correspondence: 

  • 1. Southey MC, Jenkins MA, Mead L, et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 2005; 23: 6524-6532.
  • 2. Ward RL, Turner J, Williams R, et al. Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified. J Pathol 2005; 207: 377-384.
  • 3. Lynch HT, de la Chapelle A. Genomic medicine: hereditary colorectal cancer. N Engl J Med 2003; 348: 919-932.
  • 4. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999; 116: 1453-1456.
  • 5. National Health and Medical Research Council. Clinical practice guidelines. The prevention, early detection and management of colorectal cancer. Canberra: NHMRC, 1999. (Revised version will be available in 2006.)
  • 6. Australian Cancer Network. Familial aspects of bowel cancer: a guide for health professionals. 2002. Available at: http://www.cancer.org.au/documents/Familial%20aspects%20of%20bowel%20cancer.pdf (accessed Jan 2006).
  • 7. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96: 261-268.

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