COMMENTARY
See article on page 664
Multiple HNPCC tumours: ask the family!
| The first 150 words of the full text of this article appear below. |
Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common conditions predisposing to colorectal cancer (CRC). Affecting less than 1% of the general population, HNPCC confers a lifetime risk of CRC estimated at over 80%; the risk to age 40 may exceed 30%.1 It can be caused by inherited mutations in one of the several DNA mismatch repair (MMR) genes. The resulting DNA MMR deficiency in neoplastic tissue gives rise to microsatellite alterations, a reflection of genomic instability.2 Patients with HNPCC are at increased risk of cancers other than CRC, including cancers of the endometrium, ovary, stomach, small bowel, and the upper urinary tract (renal pelvis and ureter).3
Despite recent advances in the understanding of the molecular genetic
basis of HNPCC, we are still far from the clinical ideal of being able
to identify patients with this disorder among the population we serve.
Tests for mutations in MMR genes are
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- Are relatives of patients with multiple HNPCC spectrum tumours at increased risk of cancer?
- S R Brown, P J Finan, and D T Bishop
Gut 1998 43: 664-668.[Abstract] [Full Text] [PDF]
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