Found: 44
Select item for more details and to access through your institution.
TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evidence for chimerism involving a common mutant founder haplotype: case report.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Complete Clinical Response in Stage IVB Endometrioid Endometrial Carcinoma after First-Line Pembrolizumab Therapy: Report of a Case with Isolated Loss of PMS2 Protein.
- Published in:
- Case Reports in Oncology, 2020, v. 13, n. 3, p. 1067, doi. 10.1159/000510000
- By:
- Publication type:
- Article
Family Health Leaders: Lessons on Living with Li‐Fraumeni Syndrome across Generations.
- Published in:
- Family Process, 2020, v. 59, n. 4, p. 1648, doi. 10.1111/famp.12497
- By:
- Publication type:
- Article
The Clinical and Molecular Profile of Lung Cancer Patients Harboring the TP53 R337H Germline Variant in a Brazilian Cancer Center: The Possible Mechanism of Carcinogenesis.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15035, doi. 10.3390/ijms242015035
- By:
- Publication type:
- Article
Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population.
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 4, p. 8988, doi. 10.3390/ijms16048988
- By:
- Publication type:
- Article
TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 928, doi. 10.3390/genes15070928
- By:
- Publication type:
- Article
Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1580, doi. 10.3390/genes14081580
- By:
- Publication type:
- Article
TP53-associated early breast cancer: new observations from a large cohort.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 8, p. 1246, doi. 10.1093/jnci/djae074
- By:
- Publication type:
- Article
Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.
- Published in:
- 2018
- By:
- Publication type:
- journal article
<sup>18</sup>F-FDG PET-CT for surveillance of Brazilian patients with Li-Fraumeni syndrome.
- Published in:
- Frontiers in Oncology, 2015, v. 5, p. 1, doi. 10.3389/fonc.2015.00038
- By:
- Publication type:
- Article
Prevalence of the Brazilian TP53 Founder c.1010G>A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients?
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.606537
- By:
- Publication type:
- Article
Oral and maxillofacial considerations in Gardner's syndrome: a report of two cases.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Germline BAX Deletion in a Patient With Melanoma and Gastrointestinal Stromal Tumor.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2013, v. 108, n. 8, p. 1372, doi. 10.1038/ajg.2013.176
- By:
- Publication type:
- Article
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome.
- Published in:
- Familial Cancer, 2022, v. 21, n. 3, p. 333, doi. 10.1007/s10689-021-00265-x
- By:
- Publication type:
- Article
Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing.
- Published in:
- Familial Cancer, 2018, v. 17, n. 3, p. 387, doi. 10.1007/s10689-017-0043-5
- By:
- Publication type:
- Article
p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in <italic>TP53</italic> R337H mutation carriers.
- Published in:
- Familial Cancer, 2018, v. 17, n. 2, p. 269, doi. 10.1007/s10689-017-0028-4
- By:
- Publication type:
- Article
Germline <italic>MLH1, MSH2</italic> and <italic>MSH6</italic> variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
- Published in:
- Cancer Medicine, 2018, v. 7, n. 5, p. 2078, doi. 10.1002/cam4.1316
- By:
- Publication type:
- Article
Prevalence of the <i>TP53</i> p.R337H Mutation in Breast Cancer Patients in Brazil.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099893
- By:
- Publication type:
- Article
Comprehensive Analysis of <i>BRCA1</i>, <i>BRCA2</i> and <i>TP53</i> Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057581
- By:
- Publication type:
- Article
Monoallelic deleterious MUTYH germline variants as a driver for tumorigenesis.
- Published in:
- Journal of Pathology, 2022, v. 256, n. 2, p. 214, doi. 10.1002/path.5829
- By:
- Publication type:
- Article
Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures.
- Published in:
- Carcinogenesis, 2014, v. 35, n. 4, p. 807, doi. 10.1093/carcin/bgt381
- By:
- Publication type:
- Article
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
- Published in:
- PLoS ONE, 2021, v. 16, n. 2, p. 1, doi. 10.1371/journal.pone.0247363
- By:
- Publication type:
- Article
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-63
- By:
- Publication type:
- Article
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-54
- By:
- Publication type:
- Article
Number of rare germline CNVs and TP53 mutation types.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 101, doi. 10.1186/1750-1172-7-101
- By:
- Publication type:
- Article
Keratocystic odontogenic tumor related to nevoid basal cell carcinoma syndrome: clinicopathological study.
- Published in:
- Brazilian Journal of Oral Sciences, 2013, v. 12, n. 1, p. 23, doi. 10.1590/S1677-32252013000100006
- By:
- Publication type:
- Article
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0185713
- By:
- Publication type:
- Article
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
- Published in:
- BMC Cancer, 2012, v. 12, n. 1, p. 237, doi. 10.1186/1471-2407-12-237
- By:
- Publication type:
- Article
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 143, doi. 10.1002/humu.21151
- By:
- Publication type:
- Article
Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.873395
- By:
- Publication type:
- Article
Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than- Expected Prevalence of Recurrent Germline Pathogenic Variants.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.932957
- By:
- Publication type:
- Article
Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.836937
- By:
- Publication type:
- Article
Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2021.743231
- By:
- Publication type:
- Article
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
- Published in:
- Cancers, 2020, v. 12, n. 5, p. 1289, doi. 10.3390/cancers12051289
- By:
- Publication type:
- Article
Germline DNA copy number variation in familial and early-onset breast cancer.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1555, doi. 10.1002/humu.24060
- By:
- Publication type:
- Article
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1723, doi. 10.1002/humu.23320
- By:
- Publication type:
- Article
Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature.
- Published in:
- Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00189-8
- By:
- Publication type:
- Article
Integration of Genomics in Cancer Care.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.
- Published in:
- PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0143262
- By:
- Publication type:
- Article