Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer
Brugières, L.; Gardes, M.; Moutou, C.; Chompret, A.; Meresse, V.; Martin, A.; Poisson, N.; Flamant, F.; Bonaïti-Pellié, C.; Lemerle, J.
Cancer Research 53(3): 452-455
1993
ISSN/ISBN: 0008-5472 PMID: 8425176 Document Number: 410704
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.