514 results on '"Ashton-Prolla, Patricia"'
Search Results
2. Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome
3. Geographic variation of mutagenic exposures in kidney cancer genomes
4. Challenges to the effectiveness of next-generation sequencing in formalin-fixed paraffin-embedded tumor samples for non-small cell lung cancer
5. The Mutographs biorepository: A unique genomic resource to study cancer around the world
6. Functional pri-miR-34b/c rs4938723 and KRAS 3′UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?
7. Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
8. Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance
9. Tumor Spectrum and Temporal Cancer Trends in adult carriers of Li-Fraumeni syndrome: Implications for Personalized Screening Strategies in TP53 R337H carriers
10. The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?
11. Pooling of samples to optimize SARS-CoV-2 diagnosis by RT-qPCR: comparative analysis of two protocols
12. Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study
13. Importance of genetic cancer risk assessment as a strategy to stratify risk and provide precision prevention in high-risk patients and families
14. Tumor Spectrum and Temporal Cancer Trends in Adult Carriers of Li-Fraumeni Syndrome: Implications for Personalized Screening Strategies in TP53 R337H Carriers
15. The role of genomics in global cancer prevention
16. Challenges to the effectiveness of next-generation sequencing in formalin-fixed paraffin-embedded tumor samples for non-small cell lung cancer
17. Functional pri-miR-34b/c rs4938723 and KRAS 3’UTR rs61764370 SNPs: novel phenotype modifiers in Li-Fraumeni syndrome?
18. Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America
19. Cancer Risk Factors in Southern Brazil: Report of a Comprehensive, Matched Case-Control Study
20. The Challenge of Evaluating Adnexal Masses in Patients With Breast Cancer
21. TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling
22. Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature
23. Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report
24. Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil
25. Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population
26. THE MYRIAD GENETICS CASE AND THE BRAZILIAN PUBLIC POLICIES FOR ACCESS TO PREDICTIVE GENETIC TESTS/O CASO MYRIAD GENETICS E AS POLITICAS PUBLICAS BRASILEIRAS DE ACESSO A TESTES GENETICOS PREDITIVOS
27. p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers
28. Analysis of the interval between submission and publication in genetics journals
29. Telomere length assessment and molecular characterization of TERT gene promoter in periampullary carcinomas
30. Supplementary figures from Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
31. Data from Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
32. Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations
33. Brazilian health-care policy for targeted oncology therapies and companion diagnostic testing
34. Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome
35. HLA haplotypes and differential regional mortality caused by COVID-19 in Brazil: an ecological study based on a large bone marrow donor bank dataset
36. Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas
37. An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database
38. Brain Imaging and Genetic Risk in the Pediatric Population, Part 2: Congenital Malformations of the Central Nervous System
39. Genetic Counseling for TP53 Germline Mutations
40. Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma
41. Author Reply to Peer Reviews of Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability
42. The germline mutational landscape of BRCA1 and BRCA2 in Brazil
43. HLA haplotypes and differential regional mortality caused by COVID-19 in Brazil: an ecological study based on a large bone marrow donor bank dataset
44. The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers
45. Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability
46. Cancer Genetic Counseling in Public Health Care Hospitals : The Experience of Three Brazilian Services
47. Assessment of Telomere Length and Molecular Characterization of TERT Gene Promoter in Periampullary Carcinomas
48. PRIMA-1, a mutant p53 reactivator, induces apoptosis and enhances chemotherapeutic cytotoxicity in pancreatic cancer cell lines
49. Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil
50. Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?
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