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Screening for Germ Line p53 Mutations in Children with Malignant Tumors and a Family History of Cancer¹

Département d'Oncologie Pédiatrique [L. B., V. M., F. F., J. L.] and Laboratoire d'Oncologie Moléculaire, CNRS URA 1158 [M. G., A. M. J. F.], Institut Gustave Roussy, 94805 Villejuif, and Unité de Recherches d'Epidémiologie Génétique INSERM U155, Château de Lonchamp, 75016 Paris [C. M., A. C., N. P., C. B-P.], France

We have undertaken a routine investigation of the p53 status for all the children treated at our institution either affected by multiple tumors or whose family displays at least one second degree relative or less, affected by cancer before the age of 45 years. We report here on the first set of ten such families, eight of which were identified through a proband with sarcoma. p53 exons 5 to 8 have been sequenced following polymerase chain reaction amplification performed on DNA isolated from total blood. A missense mutation affecting codons 248, 273, and 282 was identified in three families. The mutation was inherited in these three families and was detected in unaffected members. In seven families no mutation was detected in exons 5 to 8.

¹ This work was supported in part by ARC (Contract 2011 to L. B.); la Ligue Nationale contre Le Cancer; la Caisse Nationale d'Assurance Maladie; La Caisse Nationale d'Assurance Maladie des Travailleurs Non Salariés; la Fondation de France; l'Institut Electricité Santé; l'Association ISIS (Association des parents d'enfants traités à l'Institut Gustave Roussy); and l'Institut Gustave Roussy (CRC 92-8 to L. B.).

² To whom requests for reprints should be addressed.

Received 9/ 2/92. Accepted 12/14/92.

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