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[Cancer Research 59, 294-297, January 1, 1999]
© 1999 American Association for Cancer Research
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[Cancer Research 59, 294-297, January 15, 1999]
© 1999 American Association for Cancer Research

Advances in Brief

Neurofibromatosis and Early Onset of Cancers in hMLH1-deficient children1

Qing Wang, Christine Lasset, Françoise Desseigne, Didier Frappaz, Christophe Bergeron, Claudine Navarro, Eric Ruano and Alain Puisieux2

Unité d’Oncologie Moléculaire et Unité U453, Institut National de la Santé et de la Recherche Médicale [Q. W., C. N., E. R., A. P.], Département de Santé Publique [C. L.], Département de Médecine [F. D.], and Département de Pédiatrie [D. F., C. B.], Centre Léon Bérard, 69008 Lyon, France

Hereditary nonpolyposis colon cancer is a common hereditary disorder caused by the germ-line mutations of DNA mismatch repair (MMR) genes, especially hMLH1 and hMSH2. We report here the first identification of human compounds with a homozygous inactivation of a MMR gene. In a typical hereditary nonpolyposis colon cancer family, MMR-deficient children conceived from matings between heterozygotes for a hMLH1 deleterious mutation exhibited clinical features of de novo neurofibromatosis type 1 and early onset of extracolonic cancers. This observation demonstrates that MMR deficiency is compatible with human development but may lead to mutations during embryogenesis. On the basis of clinical symptoms observed in MMR-deficient children, we speculate that the neurofibromatosis type 1 gene is a preferential target for such alterations.




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HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Cancer Research Clinical Cancer Research
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Molecular Cancer Research Cancer Prevention Research
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Annual Meeting Education Book Meeting Abstracts Online
Copyright © 1999 by the American Association for Cancer Research.