Patrícia Ashton‐Prolla

Research interests

Publications

• Geographic and age variations in mutational processes in colorectal cancer

  Nature · 2025 · 10.1038/s41586-025-09025-8

• Geographic variation of mutagenic exposures in kidney cancer genomes

  Nature · 2024 · 10.1038/s41586-024-07368-2

• Germline EGFR Mutations and Familial Lung Cancer

  Journal of Clinical Oncology · 2023 · 10.1200/jco.23.01372

• XAF1 as a modifier of p53 function and cancer susceptibility

  Science Advances · 2020 · 10.1126/sciadv.aba3231

• The germline mutational landscape of BRCA1 and BRCA2 in Brazil

  Scientific Reports · 2018 · 10.1038/s41598-018-27315-2

• TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

  Genetics and Molecular Biology · 2017 · 10.1590/1678-4685-gmb-2015-0321

• Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

  Cancer Research · 2017 · 10.1158/0008-5472.can-16-2179

• miRNA-21 and miRNA-34a Are Potential Minimally Invasive Biomarkers for the Diagnosis of Pancreatic Ductal Adenocarcinoma

  Pancreas · 2015 · 10.1097/mpa.0000000000000383

• Prevalence of the TP53 p.R337H Mutation in Breast Cancer Patients in Brazil

  PLoS ONE · 2014 · 10.1371/journal.pone.0099893

• PRIMA-1, a mutant p53 reactivator, induces apoptosis and enhances chemotherapeutic cytotoxicity in pancreatic cancer cell lines

  Investigational New Drugs · 2014 · 10.1007/s10637-014-0090-9

• 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

  BMC Cancer · 2011 · 10.1186/1471-2407-11-449

• Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome

  Current Opinion in Oncology · 2009 · 10.1097/cco.0b013e328333bf00

• Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?

  The Lancet Oncology · 2009 · 10.1016/s1470-2045(09)70089-0

• TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis

  Journal of Medical Genetics · 2009 · 10.1136/jmg.2009.066704

• Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care

  BMC Cancer · 2009 · 10.1186/1471-2407-9-283

• Genomic rearrangements in BRCA1 and BRCA2: a literature review

  Genetics and Molecular Biology · 2009 · 10.1590/s1415-47572009005000049

• Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect

  Human Mutation · 2009 · 10.1002/humu.21151

• Impact of β1-Adrenergic Receptor Polymorphisms on Susceptibility to Heart Failure, Arrhythmogenesis, Prognosis, and Response to Beta-Blocker Therapy

  The American Journal of Cardiology · 2008 · 10.1016/j.amjcard.2008.04.070

• Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

  Cancer Letters · 2008 · 10.1016/j.canlet.2007.10.044

• The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families

  Cancer Letters · 2006 · 10.1016/j.canlet.2005.12.039

• An alternative protocol for DNA extraction from formalin fixed and paraffin wax embedded tissue

  Journal of Clinical Pathology · 2005 · 10.1136/jcp.2004.021352

• Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

  PubMed · 2000

• Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study

  Reproductive Toxicology · 1999 · 10.1016/s0890-6238(98)00072-0

• Thalidomide, a current teratogen in South America

  Teratology · 1996 · 10.1002/(sici)1096-9926(199612)54:6<273::aid-tera1>3.0.co;2-#

Current projects

No projects listed.