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3. Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes

Author

Carvalho, Nathalia de Angelis de, primary, Santiago, Karina Miranda, additional, Maia, Joyce Maria Lisboa, additional, Costa, Felipe D’Almeida, additional, Formiga, Maria Nirvana, additional, Soares, Diogo Cordeiro de Queiroz, additional, Paixão, Daniele, additional, Mello, Celso Abdon Lopes de, additional, Costa, Cecilia Maria Lima da, additional, Rocha, José Claudio Casali da, additional, Rivera, Barbara, additional, Carraro, Dirce Maria, additional, and Torrezan, Giovana Tardin, additional

Published
2023
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4. Risk of metastasis in BRCA2 carriers diagnosed with triple‐negative breast cancer

Author

Moreno, Marcelo, primary, Oliveira, Júlia Salles, additional, Brianese, Rafael Canfield, additional, de Castro, Douglas Guedes, additional, Sanches, Solange Moraes, additional, Torrezan, Giovana Tardin, additional, Santiago, Karina Miranda, additional, De Brot, Marina, additional, Cordeiro de Lima, Vladmir Claudio, additional, Baroni Alves Makdissi, Fabiana, additional, Casali Da Rocha, Jose Claudio, additional, Calsavara, Vinicius Fernando, additional, and Carraro, Dirce Maria, additional

Published
2023
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5. Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.

Author

de Angelis de Carvalho, Nathalia, Santiago, Karina Miranda, Lisboa Maia, Joyce Maria, Costa, Felipe D’Almeida, Formiga, Maria Nirvana, de Queiroz Soares, Diogo Cordeiro, Paixão, Daniele, de Mello, Celso Abdon Lopes, da Costa, Cecilia Maria Lima, da Rocha, José Claudio Casali, Rivera, Barbara, Carraro, Dirce Maria, and Torrezan, Giovana Tardin

Abstract

Background Sarcomas are a rare and diverse group of cancers occurring mainly in young individuals for which an underlying germline genetic cause remains unclear in most cases. Methods Germline DNA from 177 children, adolescents and young adults with soft tissue or bone sarcomas was tested using multigene panels with 113 or 126 cancer predisposing genes (CPGs) to describe the prevalence of germline pathogenic/likely pathogenic variants (GPVs). Subsequent testing of a subset of tumours for loss of heterozygosity (LOH) evaluation was performed to investigate the clinical and molecular significance of these variants. Results GPVs were detected in 21.5% (38/177) of the patients (15.8% in children and 21.6% in adolescents and young adults), with dominant CPGs being altered in 15.2% overall. These variants were found in genes previously associated with the risk of developing sarcomas (TP53, RB1, NF1, EXT1/2) but also in genes where that risk is still emerging/limited (ERCC2, TSC2 and BRCA2) or unknown (PALB2, RAD50, FANCM and others). The detection rates of GPVs varied from 0% to 33% across sarcoma subtypes and GPV carriers were more likely to present more than one primary tumour than non-carriers (21.1%×6.5%; p=0.012). Loss of the wild-type allele was detected in 48% of tumours from GPV carriers, mostly in genes definitively associated with sarcoma risk. Conclusion Our findings reveal that a high proportion of young patients with sarcomas presented a GPV in a CPG, underscoring the urgency of establishing appropriate genetic screening strategies for these individuals and their families. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Germline pathogenic variants in patients with early onset neuroendocrine neoplasms

Author

Riechelmann, Rachel Pimenta, primary, Donadio, Mauro D, additional, Jesus, Victor Hugo F de, additional, de Carvalho, Nathalia de Angelis, additional, Santiago, Karina Miranda, additional, Barros, Milton J, additional, Lopes, Laura, additional, Santos, Gabriel Oliveira dos, additional, Formiga, Maria Nirvana, additional, Carraro, Dirce Maria, additional, and Torrezan, Giovana Tardin, additional

Published
2023
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7. Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes

Author

Carvalho, Nathalia de Angelis de, Santiago, Karina Miranda, Maia, Joyce Maria Lisboa, Costa, Felipe D’Almeida, Formiga, Maria Nirvana, Soares, Diogo Cordeiro de Queiroz, Paixão, Daniele, Mello, Celso Abdon Lopes de, Costa, Cecilia Maria Lima da, Rocha, José Claudio Casali da, Rivera, Barbara, Carraro, Dirce Maria, and Torrezan, Giovana Tardin

Abstract

BackgroundSarcomas are a rare and diverse group of cancers occurring mainly in young individuals for which an underlying germline genetic cause remains unclear in most cases.MethodsGermline DNA from 177 children, adolescents and young adults with soft tissue or bone sarcomas was tested using multigene panels with 113 or 126 cancer predisposing genes (CPGs) to describe the prevalence of germline pathogenic/likely pathogenic variants (GPVs). Subsequent testing of a subset of tumours for loss of heterozygosity (LOH) evaluation was performed to investigate the clinical and molecular significance of these variants.ResultsGPVs were detected in 21.5% (38/177) of the patients (15.8% in children and 21.6% in adolescents and young adults), with dominant CPGs being altered in 15.2% overall. These variants were found in genes previously associated with the risk of developing sarcomas (TP53, RB1, NF1, EXT1/2) but also in genes where that risk is still emerging/limited (ERCC2, TSC2and BRCA2) or unknown (PALB2, RAD50, FANCMand others). The detection rates of GPVs varied from 0% to 33% across sarcoma subtypes and GPV carriers were more likely to present more than one primary tumour than non-carriers (21.1%×6.5%; p=0.012). Loss of the wild-type allele was detected in 48% of tumours from GPV carriers, mostly in genes definitively associated with sarcoma risk.ConclusionOur findings reveal that a high proportion of young patients with sarcomas presented a GPV in a CPG, underscoring the urgency of establishing appropriate genetic screening strategies for these individuals and their families.

Published
2024
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8. Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis

Author

Ballinger, Mandy L., Best, Ana, Mai, Phuong L., Khincha, Payal P., Loud, Jennifer T., Peters, June A., Achatz, Maria Isabel, Chojniak, Rubens, Balieiro da Costa, Alexandre, Santiago, Karina Miranda, Garber, Judy, O’Neill, Allison F., Eeles, Rosalind A., Evans, D. Gareth, Bleiker, Eveline, Sonke, Gabe S., Ruijs, Marielle, Loo, Claudette, Schiffman, Joshua, Naumer, Anne, Kohlmann, Wendy, Strong, Louise C., Bojadzieva, Jasmina, Malkin, David, Rednam, Surya P., Stoffel, Elena M., Koeppe, Erika, Weitzel, Jeffrey N., Slavin, Thomas P., Nehoray, Bita, Robson, Mark, Walsh, Michael, Manelli, Lorenzo, Villani, Anita, Thomas, David M., and Savage, Sharon A.

Published
2017
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13. MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers

Author

Bandeira, Isabel Cristina, Vieira, Igor Araujo, Andreis, Tiago Finger, Brussa Reis, Larissa, Macedo, Gabriel S., Vianna, Fernanda Sales Luiz, Santos-Silva, Patricia, Palmero, Edenir Inez, Galvão, Henrique de Campos Reis, Ramos, Cintia Regina Niederauer, Santiago, Karina Miranda, Achatz, Maria Isabel, da Costa, Alexandre André Balieiro Anastácio, and Ashton-Prolla, Patricia

Published
2020
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14. Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer

Author

Pinheiro, Maisa, primary, Lupinacci, Fernanda Cristina Sulla, additional, Santiago, Karina Miranda, additional, Drigo, Sandra Aparecida, additional, Marchi, Fabio Albuquerque, additional, Fonseca-Alves, Carlos Eduardo, additional, Andrade, Sonia Cristina da Silva, additional, Aagaard, Mads Malik, additional, Basso, Tatiane Ramos, additional, dos Reis, Mariana Bisarro, additional, Villacis, Rolando André Rios, additional, Roffé, Martin, additional, Hajj, Glaucia Noeli Maroso, additional, Jurisica, Igor, additional, Kowalski, Luiz Paulo, additional, Achatz, Maria Isabel, additional, and Rogatto, Silvia Regina, additional

Published
2020
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18. Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging AMeta-analysis.

Author

Ballinger, Mandy L., Best, Ana, Mai, Phuong L., Khincha, Payal P., Loud, Jennifer T., Peters, June A., Achatz, Maria Isabel, Chojniak, Rubens, Balieiro da Costa, Alexandre, Santiago, Karina Miranda, Garber, Judy, O'Neill, Allison F., Eeles, Rosalind A., Evans, D. Gareth, Bleiker, Eveline, Sonke, Gabe S., Ruijs, Marielle, Loo, Claudette, Schiffman, Joshua, and Naumer, Anne

Published
2017
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21. Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population.

Author

Santiago, Karina Miranda, de Nóbrega, Amanda França, Rocha, Rafael Malagoli, Rogatto, Silvia Regina, and Achatz, Maria Isabel

Subjects
*XERODERMA pigmentosum, *GERM cells, *NEURODEGENERATION, *NUCLEOTIDE sequence, *NEUROLOGY
Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazilian patients have been reported to carry a germline mutation in this gene. In this study, the germline mutational status of XPA was determined in Brazilian patients exhibiting major clinical features of XP syndrome. The study was conducted on 27 unrelated patients from select Brazilian families. A biallelic inactivating transition mutation c.619C>T (p.Arg207Ter) was identified in only one patient with a history of neurological impairment and mild skin abnormalities. These findings suggest that XP syndrome is rarely associated with inherited disease-causing XPA mutations in the Brazilian population. Additionally, this report demonstrates the effectiveness of genotype-phenotype correlation as a valuable tool to guide direct genetic screening. [ABSTRACT FROM AUTHOR]

Published
2015
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