Search Results - "Rocha, Yasminne Marinho de Araújo"
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Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas
Published in Genetics and molecular biology (01-01-2023)“…The TP53 3'UTR variant rs78378222 A>C has been detected in different tumor types as a somatic alteration that reduces p53 expression through modification of…”
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Functional pri-miR-34b/c rs4938723 and KRAS 3′UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?
Published in Gene (10-03-2024)Get full text
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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
Published in Gene (30-04-2023)“…In the context of cancer predisposition syndromes, it is widely known that the correct interpretation of germline variants identified in multigene panel…”
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Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil
Published in PloS one (16-09-2021)“…Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by pathogenic germline variants in the TP53 gene, characterized by a…”
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Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?
Published in Gene (10-03-2024)“…PURPOSELi-Fraumeni Syndrome (LFS) is a rare cancer predisposing condition caused by germline pathogenic TP53 variants, in which core tumors comprise sarcomas,…”
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Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: novel phenotype modifiers in Li-Fraumeni syndrome?
Published in Gene (07-12-2023)“…Li-Fraumeni Syndrome (LFS) is a rare cancer predisposing condition caused by germline pathogenic TP53 variants, in which core tumors comprise sarcomas, breast,…”
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