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An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma.

Abstract：

:The incidence of pediatric adrenal cortical carcinoma (ACC) in southern Brazil is 10-15 times higher than that of pediatric ACC worldwide. Because childhood ACC is associated with Li-Fraumeni syndrome, we examined the cancer history and p53 status of 36 Brazilian patients and their families. Remarkably, 35 of 36 patients had an identical germ-line point mutation of p53 encoding an R337H amino acid substitution. Differences within intragenic polymorphic markers demonstrated that at least some mutant alleles arose independently, thus eliminating a founder effect. In tumor cells, the wild-type allele was deleted, and mutant p53 protein accumulated within the nuclei. Although these features are consistent with Li-Fraumeni syndrome-associated adrenal tumors, there was no history of increased cancer incidence among family members. Therefore, this inherited R337H p53 mutation represents a low-penetrance p53 allele that contributes in a tissue-specific manner to the development of pediatric ACC.

journal_name

Proc Natl Acad Sci U S A

journal_title

Proceedings of the National Academy of Sciences of the United States of America

authors

Ribeiro RC,Sandrini F,Figueiredo B,Zambetti GP,Michalkiewicz E,Lafferty AR,DeLacerda L,Rabin M,Cadwell C,Sampaio G,Cat I,Stratakis CA,Sandrini R

doi

10.1073/pnas.161479898

keywords:

subject

Has Abstract

pub_date

2001-07-31 00:00:00

pages

9330-5

issue

16

eissn

0027-8424

issn

1091-6490

pii

98/16/9330

journal_volume

98

pub_type

杂志文章

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