Emília M. Pinto
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View article: A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome Open
Background Germline pathogenic variants in TP53 cause Li-Fraumeni syndrome, with significantly elevated cancer risk from infancy. Accurate classification of TP53 variants is essential to guide clinical management and surveillance, yet many…
View article: TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders
TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders Open
View article: 12485 Evaluating B7-H3-CAR T Cell Therapy In Preclinical Models Of Pediatric Adrenocortical Tumors
12485 Evaluating B7-H3-CAR T Cell Therapy In Preclinical Models Of Pediatric Adrenocortical Tumors Open
Disclosure: E.M. Pinto: None. R. Epperly: None. T. Santiago: None. H. Sheppard: None. M. Clay: None. C. Morton: None. P. Nguyen: None. Y. Zhou: None. M.A. Woolard: None. C. O'Reilly: None. J. Justice: None. W. Akers: None. M. Johnson: None…
View article: Pediatric Adrenocortical Carcinoma: The Nuts and Bolts of Diagnosis and Treatment and Avenues for Future Discovery
Pediatric Adrenocortical Carcinoma: The Nuts and Bolts of Diagnosis and Treatment and Avenues for Future Discovery Open
Adrenocortical tumors (ACTs) are infrequent neoplasms in children and adolescents and are typically associated with clinical symptoms reflective of androgen overproduction. Pediatric ACTs typically occur in the context of a germline TP5…
View article: International consensus on mitotane treatment in pediatric patients with adrenal cortical tumors: indications, therapy, and management of adverse effects
International consensus on mitotane treatment in pediatric patients with adrenal cortical tumors: indications, therapy, and management of adverse effects Open
Objective Mitotane is an important cornerstone in the treatment of pediatric adrenal cortical tumors (pACC), but experience with the drug in the pediatric age group is still limited and current practice is not guided by robust evidence. Th…
View article: Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children’s Oncology Group AREN18B5-Q
Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children’s Oncology Group AREN18B5-Q Open
View article: Clinical and functional analysis of the germline<i>TP53</i>p.K164E acetylation site variant
Clinical and functional analysis of the germline<i>TP53</i>p.K164E acetylation site variant Open
TP53 plays a critical role as a tumor suppressor by controlling cell cycle progression, DNA repair, and apoptosis. Post-translational modifications such as acetylation of specific lysine residues in the DNA binding and carboxy-terminus reg…
View article: Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility Open
The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation in two distinct haplotypes with the most frequent c…
View article: SAT274 Multilocus Imprinting Disorder Due To Genome-wide Paternal Uniparental Disomy Associated With Adrenocortical Tumors
SAT274 Multilocus Imprinting Disorder Due To Genome-wide Paternal Uniparental Disomy Associated With Adrenocortical Tumors Open
Disclosure: E.M. Pinto: None. E. Lalli: None. G. Wu: None. R. Ribeiro: None. G. Zambetti: None. Pediatric adrenocortical tumor (ACT) is an uncommon malignancy frequently associated with Li-Fraumeni syndrome, a familial cancer predispositio…
View article: Pintotable1.xlsx from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants
Pintotable1.xlsx from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants Open
Pintotable1.xlsxTable S1a. Cohort characteristicsTable S1b. Frequencies and features of TP53 variants at codon 125 in public databasesTable S1c. Annotation and interpretation of TP53 variants at codon 125 and surrounding basesTable S1d. Sp…
View article: Pintotable1.xlsx from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants
Pintotable1.xlsx from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants Open
Pintotable1.xlsxTable S1a. Cohort characteristicsTable S1b. Frequencies and features of TP53 variants at codon 125 in public databasesTable S1c. Annotation and interpretation of TP53 variants at codon 125 and surrounding basesTable S1d. Sp…
View article: Data from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants
Data from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants Open
Germline TP53 splicing variants are uncommon, and their clinical relevance is unknown. However, splice-altering variants at exon 4–intron 4 junctions are relatively enriched in pediatric adrenocortical tumors (ACT). Nevertheless, fa…
View article: Data from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants
Data from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants Open
Germline TP53 splicing variants are uncommon, and their clinical relevance is unknown. However, splice-altering variants at exon 4–intron 4 junctions are relatively enriched in pediatric adrenocortical tumors (ACT). Nevertheless, fa…
View article: Supplementary Materials, Supplementary Figures 1-5 from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants
Supplementary Materials, Supplementary Figures 1-5 from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants Open
S1. Proband pedigrees. S2. TP53 status as determined by Multiplex Ligation Probe Amplification for Saos-2 and H1299 cell lines. S3. TP53 altering splice variants in the (a) IARC database (b) PCGP database. (c) Total germline TP53 variants …
View article: Supplementary Materials, Supplementary Figures 1-5 from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants
Supplementary Materials, Supplementary Figures 1-5 from Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants Open
S1. Proband pedigrees. S2. TP53 status as determined by Multiplex Ligation Probe Amplification for Saos-2 and H1299 cell lines. S3. TP53 altering splice variants in the (a) IARC database (b) PCGP database. (c) Total germline TP53 variants …
View article: Supplementary Table 5 from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study
Supplementary Table 5 from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study Open
Association of HLA-DPA1 Expression with Clinical and Biological Characteristics of Uniformly Managed Pediatric Adrenocortical Carcinoma
View article: Supplementary Fig. 2 from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study
Supplementary Fig. 2 from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study Open
Immunohistochemical analysis of CD3, CD4, and CD8 expression. Row: a) adenoma; b) stage I carcinoma; and c) stage III carcinoma. Note that cells with short processes are dimly positive for CD4, consistent with macrophages; cells with long …
View article: Supplementary Table 1 from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study
Supplementary Table 1 from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study Open
Clinical Data for Pediatric Adrenocortical Tumor patients
View article: Supplementary Figure S8 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model
Supplementary Figure S8 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model Open
Mutant p53-R334H has a prolonged half-life and compromised in forming stable tetramers in primary mouse embryo fibroblasts.
View article: Supplementary Figure S5 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model
Supplementary Figure S5 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model Open
Gene set enrichment analysis of control and IR-treated WT and p53-R334H thymocytes.
View article: Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers Open
Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li–Fraumeni syndrome (LFS). Here, we identified a rare TP53 tetramerization domain missense mutation, c.1000G>C;p.G334R, in a family with multiple late-…
View article: Supplementary Figure S3 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model
Supplementary Figure S3 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model Open
Mutant p53-R334H is abnormally expressed and functionally impaired in vivo in response to DNA damage.
View article: Supplementary Figure S8 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model
Supplementary Figure S8 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model Open
Mutant p53-R334H has a prolonged half-life and compromised in forming stable tetramers in primary mouse embryo fibroblasts.
View article: Supplementary Figure S3 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model
Supplementary Figure S3 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model Open
Mutant p53-R334H is abnormally expressed and functionally impaired in vivo in response to DNA damage.
View article: Supplementary Table S1 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model
Supplementary Table S1 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model Open
Mouse Cohorts and Associated Pathology
View article: Data from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study
Data from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study Open
Purpose: Histologic markers that differentiate benign and malignant pediatric adrenocortical tumors are lacking. Previous studies have implicated an association of MHC class II expression with adrenocortical tumor prognosis. Here, w…
View article: Data from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model
Data from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model Open
The TP53-R337H founder mutation exists at a high frequency throughout southern Brazil and represents one of the most common germline TP53 mutations reported to date. It was identified in pediatric adrenocortical tumors in families with a l…
View article: Data Supplement from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study
Data Supplement from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study Open
Supplementary materials and methods
View article: Supplementary Figure S2 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model
Supplementary Figure S2 from The Common Germline <i>TP53-R337H</i> Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model Open
Cell death in response to radiation is impaired in thymocytes and splenocytes expressing Mutant p53-R334H.
View article: Supplementary Table 1 from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study
Supplementary Table 1 from Prognostic Significance of Major Histocompatibility Complex Class II Expression in Pediatric Adrenocortical Tumors: A St. Jude and Children's Oncology Group Study Open
Clinical Data for Pediatric Adrenocortical Tumor patients