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

Ribeiro, Raul C.; Sandrini, Fabiano; Figueiredo, Bonald; Zambetti, Gerard P.; Michalkiewicz, Edson; Lafferty, Antony R.; DeLacerda, Luiz; Rabin, Mark; Cadwell, Craig; Sampaio, Gilberto; Cat, Israil; Stratakis, Constantine A.; Sandrini, Romolo

doi:10.1073/pnas.161479898

Cited by 541Adrenal and Paraganglionic TumorsCancer-related Molecular PathwaysGenetic factors in colorectal cancer

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

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Ribeiro, Raul C., Sandrini, Fabiano, Figueiredo, Bonald, Zambetti, Gerard P., Michalkiewicz, Edson, Lafferty, Antony R., DeLacerda, Luiz, Rabin, Mark +5 more·2001·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.161479898PMC PMC55420

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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.

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Recent analyses suggest a founder effect for the p.R337H mutation in most cases, although de novo mutations may still exist.
“The p.R337H mutation was initially considered not to be a result of common ancestry; however, recent analyses suggest a founder effect in most cases, although in some cases, de novo mutations may still exist (7, 39).”
From Adrenocortical carcinoma (2014) · cites this paper as [39]
The p.R337H mutation is a low-penetrance tetramerization domain mutation in Southern Brazil.
“One particular hot spot mutation has been described to date, which is the low-penetrance tetramerization domain p.R337H mutation in Southern Brazil (14, 37–39).”
From Adrenocortical carcinoma (2014) · cites this paper as [39]

Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms
Malkin, D., Li, F. P., Strong, L. C., Fraumeni, J. F., Nelson, C. E., Kim, D. H., Kassel, J., Gryka, M. A., Bischoff, F. Z., Tainsky, M. A., et al. (1990) · Science · doi:10.1126/science.1978757 · Cited by 3,765 · see citing works
Mutational hot spot in the p53 gene in human hepatocellular carcinomas
Hsu, I., Metcalf, R. A., Sun, T., Welsh, J. A., Wang, N. J., & Harris, C. C. (1991) · Nature · doi:10.1038/350427a0 · Cited by 1,533 · see citing works
Selective G to T mutations of p53 gene in hepatocellular carcinoma from southern Africa
Paillerets, B. B., Kew, M. C., Wands, J. R., & Öztürk, M. (1991) · Nature · doi:10.1038/350429a0 · Cited by 1,433 · see citing works
A cancer family syndrome in twenty-four kindreds.
Li, F. P., Fraumeni, J. F., Mulvihill, J. J., Blattner, W. A., Dreyfus, M., Tucker, M., & Miller, R. (1988) · PubMed · Cited by 1,293 · see citing works
DNA Damage-Induced Activation of p53 by the Checkpoint Kinase Chk2
Hirao, A., Kong, Y., Matsuoka, S., Wakeham, A. C., Ruland, J., Yoshida, H., Liu, D., Elledge, S. J., & Mak, T. W. (2000) · Science · doi:10.1126/science.287.5459.1824 · Cited by 1,288 · see citing works
Developmental and Functional Biology of the Primate Fetal Adrenal Cortex*
Mesiano, S. A., & Jaffe, R. B. (1997) · Endocrine Reviews · doi:10.1210/edrv.18.3.0304 · Cited by 678 · see citing works
Crystal Structure of the Tetramerization Domain of the p53 Tumor Suppressor at 1.7 Angstroms
Jeffrey, P. D., Gorina, S. S., & Pavletich, N. P. (1995) · Science · doi:10.1126/science.7878469 · Cited by 548 · see citing works
Rearrangement of the p53 gene in human osteogenic sarcomas.
Masuda, H., Miller, C., Koeffler, H. P., Battifora, H. A., & Cline, M. J. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.21.7716 · Cited by 473 · see citing works
p53 alteration is a common event in the spontaneous immortalization of primary BALB/c murine embryo fibroblasts.
Harvey, D. M., & Levine, A. J. (1991) · Genes & Development · doi:10.1101/gad.5.12b.2375 · Cited by 453 · see citing works
Regulation of p53 function and stability by phosphorylation.
Ashcroft, M., Kubbutat, M. H. G., & Vousden, K. H. (1999) · Molecular and Cellular Biology · doi:10.1128/mcb.19.3.1751 · Cited by 452 · see citing works
Mutant p53 DNA clones from human colon carcinomas cooperate with ras in transforming primary rat cells: a comparison of the "hot spot" mutant phenotypes.
Hinds, P. W., Finlay, C. A., Quartin, R. S., Baker, S. J., Fearon, E. R., Vogelstein, B., & Levine, A. J. (1990) · PubMed · Cited by 408 · see citing works
True
Chompret, A., Brugières, L., Abel, A. L. V., Lemerle, J., Ronsin, M., Gardes, M., Dessarps-Freichey, F., Feunteun, J., Hua, D., Ligot, L., et al. (2000) · British Journal of Cancer · doi:10.1054/bjoc.2000.1167 · Cited by 372 · see citing works
Li-Fraumeni syndrome – a molecular and clinical review
Varley, J. M., Evans, D. G., & Birch, J. M. (1997) · British Journal of Cancer · doi:10.1038/bjc.1997.328 · Cited by 358 · see citing works
Wild-type p53 mediates positive regulation of gene expression through a specific DNA sequence element.Preprint
Zambetti, G. P., Bargonetti, J., Walker, K. K., Prives, C. L., & Levine, A. J. (1992) · Genes & Development · doi:10.1101/gad.6.7.1143 · Cited by 311 · see citing works
Self-citation
A Mutant p53 That Discriminates between p53-Responsive Genes Cannot Induce Apoptosis
Friedlander, P. A., Haupt, Y., Prives, C. L., & Oren, M. (1996) · Molecular and Cellular Biology · doi:10.1128/mcb.16.9.4961 · Cited by 275 · see citing works
Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors
Varley, J. M., McGown, G., Thorncroft, M., James, L. A., Margison, G. P., Forster, G., Evans, D. G. R., Harris, M., Kelsey, A. M., & Birch, J. M. (1999) · The American Journal of Human Genetics · doi:10.1086/302575 · Cited by 266 · see citing works
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
Varley, J. M., McGown, G., Thorncroft, M. R., Santibanez‐Koref, M., Kelsey, A. M., Tricker, K. J., Evans, D. G., & Birch, J. M. (1997) · PubMed · Cited by 263 · see citing works
Childhood Adrenocortical Tumors1
Sandrini, R., Ribeiro, R. C., & DeLacerda, L. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.7.4057 · Cited by 237 · see citing works
Self-citation
High frequency of germline p53 mutations in childhood adrenocortical cancer
Wagner, J., Portwine, C., Rabin, K., Leclerc, J.-M., Narod, S. A., & Malkin, D. (1994) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/86.22.1707 · Cited by 227 · see citing works
Refined solution structure of the oligomerization domain of the tumour suppressor p53
Clore, G. M., Ernst, J. A., Clubb, R. T., Omichinski, J. G., Kennedy, W. P., Sakaguchi, K., Appella, E., & Gronenborn, A. M. (1995) · Nature Structural & Molecular Biology · doi:10.1038/nsb0495-321 · Cited by 222 · see citing works
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome
Birch, J. M., Blair, V., Kelsey, A. M., Evans, D. G., Harris, M., Tricker, K. J., & Varley, J. M. (1998) · Oncogene · doi:10.1038/sj.onc.1202033 · Cited by 200 · see citing works
Activation of c- myc Gene Expression by Tumor-Derived p53 Mutants Requires a Discrete C-Terminal Domain
Frazier, M. W., He, X., Wang, J., Gu, Z., Cleveland, J. L., & Zambetti, G. P. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.7.3735 · Cited by 194 · see citing works
Self-citation
Abnormal expression of wild type p53 protein in normal cells of a cancer family patient
Barnes, D. M., Gillett, C. E., Bobrow, L. G., et al. (1992) · The Lancet · doi:10.1016/0140-6736(92)92354-i · Cited by 193 · see citing works
A C-terminal alpha-helix plus basic region motif is the major structural determinant of p53 tetramerization.
Stürzbecher, H. W., Brain, R., Addison, C. M., Rudge, K., Remm, M., Grimaldi, M., Keenan, E., & Jenkins, J. R. (1992) · PubMed · Cited by 191 · see citing works
Adrenocortical carcinoma in children: a study of 40 cases.
Ribeiro, R. C., Neto, R. S. S., Schell, M., de Lacerda, L., Sambaio, G. A., & Cat, I. (1990) · Journal of Clinical Oncology · doi:10.1200/jco.1990.8.1.67 · Cited by 152 · see citing works
Self-citation
Adrenocortical tumors in children
Çiftçi, A. Ö., Şenocak, M. E., Tanyel, F. C., & Büyükpamukçu, N. (2001) · Journal of Pediatric Surgery · doi:10.1053/jpsu.2001.22280 · Cited by 147 · see citing works
Adrenocortical tumors in children
Ribeiro, R. C., Michalkiewicz, E., de Figueiredo, B. C., DeLacerda, L., Sandrini, F., Pianovski, M. A. D., Sampaio, G., & Sandrini, R. (2000) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x2000001000013 · Cited by 134 · see citing works
Self-citation
Characterization of the oligomerization defects of two p53 mutants found in families with Li–Fraumeni and Li–Fraumeni-like syndrome
Davison, T. S., Yin, P., Nie, E., Kay, C. M., & Arrowsmith, C. H. (1998) · Oncogene · doi:10.1038/sj.onc.1202062 · Cited by 112 · see citing works
Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex)
Stratakis, C. A., Jenkins, R. B., Pras, E., Mitsiadis, C. S., Raff, S. B., Stalboerger, P. G., Tsigos, C., Carney, J. A., & Chrousos, G. P. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.10.8855810 · Cited by 92 · see citing works
Self-citation
Detection of Novel Germ-line p53 Mutations in Diverse-Cancer-Prone Families Identifiled by Selecting Patients With Childhood Adrencortical Carcinoma
Sameshima, Y., Tsunematsu, Y., Watanabe, S., Tsukamoto, T., Kawa‐Ha, K., Hirata, Y., Mizoguchi, H., Sugimura, T., Terada, M., & Yokota, J. (1992) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/84.9.703 · Cited by 91 · see citing works
In vitro synthesis of novel genes: mutagenesis and recombination by PCR.Preprint
Vallejo, A. N., Pogulis, R. J., & Pease, L. R. (1994) · Genome Research · doi:10.1101/gr.4.3.s123 · Cited by 74 · see citing works
Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family
Lomax, M. E., Barnes, D. M., Gilchrist, R., Picksley, S. M., Varley, J. M., & Camplejohn, R. (1997) · Oncogene · doi:10.1038/sj.onc.1201133 · Cited by 65 · see citing works
Genetic and functional studies of a germline TP53 splicing mutation in a Li–Fraumeni-like family
Varley, J. M., Chapman, P. J., McGown, G., Thorncroft, M. R., White, G. R. M., Greaves, M. J., Scott, D., Spreadborough, A. R., Tricker, K. J., Birch, J. M., et al. (1998) · Oncogene · doi:10.1038/sj.onc.1201878 · Cited by 52 · see citing works
Neoplasms Associated With Hemihypertrophy, Beckwith-Wiedemann Syndrome and Aniridia
Tank, E. S., & Kay, R. (1980) · The Journal of Urology · doi:10.1016/s0022-5347(17)55401-4 · Cited by 43 · see citing works
DNA analysis at p53 locus in carcinomas arising from pleomorphic adenomas of salivary glands: Comparison of molecular study and p53 immunostaining
Yamamoto, Y., Kishimoto, Y., WISTUBA, L. I., et al. (1998) · Pathology International · doi:10.1111/j.1440-1827.1998.tb03904.x · Cited by 41 · see citing works
International Incidence of Childhood Cancer, Vol. II.
(1998) · PubMed · Cited by 34 · see citing works
A germline missense mutation R337C in exon 10 of the human p53 gene
Luca, J. W., Strong, L. C., & Hansen, M. F. (1998) · Human Mutation · doi:10.1002/humu.1380110121 · Cited by 11 · see citing works

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Petitjean, A., Achatz, M. I. W., Borresen-Dale, A. L., Hainaut, P., & Olivier, M. (2007) · Oncogene · doi:10.1038/sj.onc.1210302 · Cited by 884 · see citing works
Adrenocortical carcinoma
Else, T., Kim, A. C., Sabolch, A., Raymond, V. M., Kandathil, A., Caoili, E. M., Jolly, S., Miller, B. S., Giordano, T. J., & Hammer, G. D. (2014) · Endocrine Reviews · doi:10.1210/er.2013-1029 · Cited by 892 · see citing works
Adrenocortical Carcinoma: Clinical Update
Allolio, B., & Fassnacht, M. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2639 · Cited by 775 · see citing works
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Bouaoun, L., Sonkin, D., Ardin, M., Hollstein, M., Byrnes, G., Zavadil, J., & Olivier, M. (2016) · Human Mutation · doi:10.1002/humu.23035 · Cited by 730 · see citing works
The expanding universe of p53 targets
Menendez, D., Inga, A., & Resnick, M. A. (2009) · Nature Reviews Cancer · doi:10.1038/nrc2730 · Cited by 568 · see citing works
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Michalkiewicz, E., Sandrini, R., Figueiredo, B., Miranda, E. C. M., Caran, E., Oliveira-Filho, A. G., Marques, R., Pianovski, M. A. D., Lacerda, L., Cristofani, L. M., et al. (2004) · Journal of Clinical Oncology · doi:10.1200/jco.2004.08.085 · Cited by 519 · see citing works
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Schteingart, D. E., Doherty, G. M., Gauger, P. G., Giordano, T. J., Hammer, G. D., Korobkin, M., & Worden, F. P. (2005) · Endocrine Related Cancer · doi:10.1677/erc.1.01029 · Cited by 421 · see citing works
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Fassnacht, M., Libé, R., Kroiss, M., & Allolio, B. (2011) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2010.235 · Cited by 396 · see citing works
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Allolio, B., Hahner, S., Weismann, D., & Fassnacht, M. (2004) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2003.01881.x · Cited by 214 · see citing works
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Latronico, A. C., Pinto, E. M., Domenice, S., Fragoso, M. C. B. V., Martin, R. M., Zerbini, M. C., Lucon, A. M., & Mendonca, B. B. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.10.7957 · Cited by 224 · see citing works
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Almeida, M. Q., Fragoso, M. C. B. V., Lotfi, C. F. P., Santos, M. G., Nishi, M. Y., Costa, M. H. S., Lerario, A. M., Maciel, C. C., Mattos, G. E., Jorge, A. A. L., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0065 · Cited by 176 · see citing works
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Libé, R., & Bertherat, J. (2005) · European Journal of Endocrinology · doi:10.1530/eje.1.02004 · Cited by 168 · see citing works
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Figueiredo, B. C., Sandrini, R., Zambetti, G. P., Pereira, R. M., Cheng, C., Liu, W., Lacerda, L., Pianovski, M. A., Michalkiewicz, E., Jenkins, J., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2004.030551 · Cited by 166 · see citing works
Self-citation
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Garritano, S., Gemignani, F., Palmero, E. I., Olivier, M., Martel-Planche, G., Le Calvez-Kelm, F., Brugiéres, L., Vargas, F. R., Brentani, R. R., Ashton-Prolla, P., et al. (2010) · Human Mutation · doi:10.1002/humu.21151 · Cited by 153 · see citing works
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Pinto, E. M., Billerbeck, A. E. C., Villares, M. C. B. F., Domenice, S., Mendonça, B. B., & Latronico, A. C. (2004) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302004000500009 · Cited by 153 · see citing works
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Self-citation
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Authors: Ribeiro, R. C., Sandrini, F., Figueiredo, B., Zambetti, G. P., Michalkiewicz, E., Lafferty, A. R., DeLacerda, L., Rabin, M., Cadwell, C., Sampaio, G., Cat, I., Stratakis, C. A., & Sandrini, R.
Affiliations: National Institutes of Health (US)
Corresponding author: Ribeiro, Raul C.
Rabin, Mark
ORCID: Ribeiro, Raul C.
Figueiredo, Bonald
Zambetti, Gerard P.
Lafferty, Antony R.
Stratakis, Constantine A.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2001-07-31
Volume: 98
Issue: 16
Pages: 9330-9335
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.161479898
PMC: PMC55420
OpenAlex: W2120961400
Cited by: 541
References: 37
Citations by year: 2026: 8 · 2025: 18 · 2024: 20 · 2023: 11 · 2022: 20 · 2021: 22 · 2020: 28 · 2019: 16 · 2018: 16 · 2017: 19 · 2016: 29 · 2015: 28 · 2014: 29 · 2013: 25 · 2012: 34
FWCI: 13.19
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Cancer Institute (R01CA063230, P01-CA 20180, R01-CA63230, P 30CA 21765, P01CA020180, P30CA021765)
Topics: Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords: TP53 mutation, Li-Fraumeni syndrome, germline mutations, founder effect, southern Brazil
MeSH terms: Adrenal Cortex Neoplasms, Base Sequence, Cell Nucleus, Child, Female, Humans, Male, Pedigree, Genes, p53, Tumor Suppressor Protein p53, Point Mutation, DNA Primers, Germ-Line Mutation, Loss of Heterozygosity

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

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