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Bull Cancer. 1999 Oct;86(10):812-4.

[HNPCC syndrome, microsatellite instability and NF1 gene alteration].

[Article in French]

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Unité d'oncologie moléculaire, unité Inserm U. 453, centre Léon-Bérard, 28, rue Laennec, 69000 Lyon Cedex 08.


Hereditary predisposition to non polyposis colorectal cancer is caused by a heterozygous germline mutation in a DNA mismatch repair gene (essentially hMLH1 or hMSH2). Cancer progression in predisposed individuals results from the occurrence of a somatic alteration of the normal copy of the gene. Recently, we identified children with a constitutional deficiency of mismatch repair activity, due to a homozygous germline mutation of the hMLH1 gene. These children exhibited clinical features of de novo neurofibromatosis type 1 and early onset of hematopoietic cancers. This observation demonstrates that mismatch repair deficiency is compatible with human development. However, the subsequent genetic instability leads to a high cancer susceptibility. In this context, the NF1 gene appears to be a preferential mutational target. Implications of this observation are discussed.

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