LETTER TO JMG

Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated

J Carayol¹, M Khlat², J Maccario³, C Bonaïti-Pellié¹

¹ Unité de Recherches en Epidémiologie des Cancers (INSERM U521), Institut Gustave Roussy, 39 rue Camille Desmoulins, 94805 Villejuif Cedex, France
² Unité de Recherches en Génétique Epidémiologie et Structure des Populations Humaines (INSERM U535), Bâtiment Grégory Pincus, CHU du Kremlin-Bicêtre, 80 rue du Général Leclerc, 94276 Le Kremlin-Bicêtre Cedex, France
³ Unité de Recherches en Epidémiologie (INSERM U472), Paris, France

Correspondence to:
Correspondence to:
Dr C Bonaïti-Pellié, INSERM U535, Bâtiment Grégory Pincus, CHU du Kremlin-Bicêtre, 80 rue du Général Leclerc, 94276 Le Kremlin-Bicêtre Cedex, France;
bonaiti@kb.inserm.fr

Keywords: colorectal cancer; HNPCC; Lynch syndrome; mutation carriers

Abbreviations: CRC, colorectal cancer; HNPCC, hereditary non-polyposis colorectal cancer; MSI, microsatellite instability; ECC, extracolonic cancer

A positive family history has been shown to be an important risk factor for colorectal cancer (CRC). Part of the familial aggregation is explained by the inherited diseases familial adenomatous polyposis and hereditary non-polyposis colorectal cancer (HNPCC).¹ The latter syndrome is characterised by a high risk of colorectal cancer with a high rate of multiple primary tumours and a young age of onset, and also by a high risk of cancers of other organs (endometrium, stomach, pancreas, ovary, small intestine, urinary tract).² The germline mutations which cause this syndrome have been shown to occur on genes that are responsible for repairing DNA mismatches. In humans, six mismatch repair (MMR) genes have been identified (hMLH1, hMSH2, hPMS1, hPMS2, hMSH6, and hMSH3) but germline mutations have been found in the first five only, mostly in hMLH1 and hMSH2.³ It is now commonly accepted that the . . . [Full text of this article]

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• Quehenberger, F, Vasen, H F A, van Houwelingen, H C (2005). Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J. Med. Genet. 42: 491-496 [Abstract] [Full Text]