Our group is interested in understanding the molecular mechanisms of carcinogenesis, especially those focused on DNA Repair pathways, studying how genetic background might estimate the accurate role of DNA lesion and genetic susceptibility in chronic pathologies as breast and thyroid cancers.
Taking advantages of the molecular biology of disease and of new methodologies (e.g., sequencing technologies and genome editing tools) our focus is to evaluate genetic variants and correlate them with disease occurrence and progression. Many of these approaches might be relevant to identify potential biomarkers of disease, and therapeutic targets, as well as characterize the biologic significance of genetic variants identified in clinical screenings involving massive sequencing methodologies. To perform our studies, we use in-vitro models but also human samples, highlighting that translational research linking genetic comprehension to clinical outcome is crucial for a better patient outcome.
Silva SN, Gomes BC, André S, Félix A, Rodrigues AS, Rueff J., Male and female breast cancer: the two faces of the same genetic susceptibility coin. Breast Cancer Res Treat. 2021 Jul;188(1):295-305. doi: 10.1007/s10549-021-06159-x.
S Santos L, M Gil O, N Silva S, C Gomes B, C Ferreira T, Limbert E, Rueff J., Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants. Genes (Basel). 2020 Sep 17;11(9):1083. doi:10.3390/genes11091083.
Brás A, Rodrigues AS, Rueff J., Copy number variations and constitutional chromothripsis (Review). Biomed Rep. 2020 Sep;13(3):11. doi: 10.3892/br.2020.1318.
Santos LS, Gomes BC, Bastos HN, Gil OM, Azevedo AP, Ferreira TC, Limbert E, Silva SN, Rueff J. Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes. Genes (Basel). 2019 Aug 1;10(8):586. doi: 10.3390/genes10080586.
Azevedo AP, Silva SN, Reichert A, Lima F, Júnior E, Rueff J., Effects of polymorphic DNA genes involved in BER and caspase pathways on the clinical outcome of myeloproliferative neoplasms under treatment with hydroxyurea. Mol Med Rep. 2018 Dec;18(6):5243-5255. doi: 10.3892/mmr.2018.9535.
Santos LS, Silva SN, Gil OM, Ferreira TC, Limbert E, Rueff J., Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility. Oncol Lett. 2018 May;15(5):6715-6726. doi: 10.3892/ol.2018.8103.
Azevedo AP, Silva SN, Reichert A, Lima F, Júnior E, Rueff J., The Role of Caspase Genes Polymorphisms in Genetic Susceptibility to Philadelphia-Negative Myeloproliferative Neoplasms in a Portuguese Population. Pathol Oncol Res. 2019 Jul;25(3):961-969. doi: 10.1007/s12253-018-0411-y.
Brás A, Rodrigues AS, Gomes B, Rueff J., Down syndrome and microRNAs. Biomed Rep. 2018 Jan;8(1):11-16. doi: 10.3892/br.2017.1019.
Azevedo AP, Silva SN, Reichert A, Lima F, Júnior E, Rueff J., Prevalence of the Janus kinase 2 V617F mutation in Philadelphia-negative myeloproliferative neoplasms in a Portuguese population. Biomed Rep. 2017 Oct;7(4):370-376. doi: 10.3892/br.2017.977.
Azevedo AP, Silva SN, De Lima JP, Reichert A, Lima F, Júnior E, Rueff J., DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: The role of base excision repair genes polymorphisms. Oncol Lett. 2017 Jun;13(6):4641-4650. doi: 10.3892/ol.2017.6065.
Dʼ Oliveira Martins F, Gomes BC, Rodrigues AS, Rueff J., Genetic Susceptibility in Acute Pancreatitis: Genotyping of GSTM1, GSTT1, GSTP1, CASP7, CASP8, CASP9, CASP10, LTA, TNFRSF1B, and TP53 Gene Variants. Pancreas. 2017 Jan;46(1):71-76. doi: 10.1097/MPA.0000000000000707.
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