LETTER TO JMG

Cancer risk in 348 French MSH2 or MLH1 gene carriers

Y Parc^1,2, C Boisson², G Thomas^1,2, S Olschwang^1,2

¹ INSERM U 434, 27 rue Juliette Dodu, 75010 Paris, France
² Hôpital Saint-Antoine, 184 rue du Faubourg Saint-Antoine, 75012 Paris, France.

Correspondence to:
Correspondence to:
Dr S Olschwang, INSERM U434, 27 rue Juliette Dodu, 75010 Paris, France;
olschwang@cephb.fr.

Keywords: cancer predisposition; early diagnosis; germline mutation; Lynch syndromes

The first 150 words of the full text of this article appear below.

Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is a dominantly inherited condition, recognised by Lynch et al¹ in 1966, associated with a major susceptibility to colorectal and endometrial cancer. The use of stringent criteria in the definition of the syndrome led to the initial identification of two genes, MSH2 and MLH1, which when mutated are responsible for the cancer susceptibility. Mutations in these two genes may account for up to two-thirds of all HNPCC cases.² More recently, additional genes such as MSH6, PMS1, PMS2, MLH3, TGFßRII, and EXO1 have also been implicated. Together deleterious mutations of these genes account for less than 10% of the cases.

In addition to the colorectum and endometrium, a variety of different sites have been reported to be at an increased risk of cancer in HNPCC patients. Indeed, studies based on either family history or on small groups of patients . . . [Full text of this article]

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