Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Carla, Escudeiro"'
Autor:
Carla Pinto, Joana Guerra, Manuela Pinheiro, Carla Escudeiro, Catarina Santos, Pedro Pinto, Miguel Porto, Carla Bartosch, João Silva, Ana Peixoto, Manuel R. Teixeira
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
NTHL1 tumor syndrome is an autosomal recessive rare disease caused by biallelic inactivating variants in the NTHL1 gene and which presents a broad tumor spectrum. To contribute to the characterization of the phenotype of this syndrome, we studied 467
Externí odkaz:
https://doaj.org/article/16c7d05f7ba64b5ca00892e14af04742
Autor:
Ana Barbosa, Pedro Pinto, Ana Peixoto, Joana Guerra, Manuela Pinheiro, Catarina Santos, Carla Pinto, Carla Escudeiro, Carla Bartosch, Rui Santos, Andreia Brandão, João Silva, Manuel R. Teixeira
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Genetic testing to detect somatic alterations is usually performed on formalin-fixed paraffin-embedded tumor samples. However, tumor molecular profiling through ctDNA analysis may be particularly interesting with the emergence of targeted therapies f
Externí odkaz:
https://doaj.org/article/178b3eaa4ce94fe0bf457166a532b21a
Autor:
Ana Peixoto, Pedro Pinto, Joana Guerra, Manuela Pinheiro, Catarina Santos, Carla Pinto, Rui Santos, Carla Escudeiro, Carla Bartosch, Rita Canário, Ana Barbosa, Alfredo Gouveia, Almerinda Petiz, Miguel Henriques Abreu, Susana Sousa, Deolinda Pereira, João Silva, Manuel R. Teixeira
Publikováno v:
Frontiers in Oncology, Vol 10 (2020)
Deleterious variants in the BRCA1/BRCA2 genes and homologous recombination deficiency (HRD) status are considered strong predictors of response to poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi). The introduction of PARPi in clinical practice
Externí odkaz:
https://doaj.org/article/d9f939477093490cb38816416cd6b2e9
Autor:
Noélia Custódio, Rosina Savisaar, Célia Carvalho, Pedro Bak-Gordon, Maria I. Ribeiro, Joana Tavares, Paula B. Nunes, Ana Peixoto, Carla Pinto, Carla Escudeiro, Manuel R. Teixeira, Maria Carmo-Fonseca
Publikováno v:
Biomedicines, Vol 10, Iss 2, p 199 (2022)
Predictive biomarkers are crucial in clarifying the best strategy to use poly(ADP-ribose) polymerase inhibitors (PARPi) for the greatest benefit to ovarian cancer patients. PARPi are specifically lethal to cancer cells that cannot repair DNA damage b
Externí odkaz:
https://doaj.org/article/35fd3c7193d046c8884b97ed420fee1b
Autor:
Manuela Pinheiro, Ana Peixoto, Patricia Rocha, Isabel Veiga, Carla Pinto, Catarina Santos, Pedro Pinto, Joana Guerra, Carla Escudeiro, Ana Barbosa, João Silva, Manuel R. Teixeira
Publikováno v:
International Journal of Colorectal Disease. 37:895-905
Mutations in the KRAS and NRAS (RAS) genes are negative predictors of response to anti-EGFR therapy in metastatic colorectal cancer (mCRC). The detection of mutations in circulating tumor DNA (ctDNA) has emerged as a less invasive strategy to assess
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2870c19f7d9f875e28a7a200712ca7b9
https://doi.org/10.1007/s00384-022-04126-6
https://doi.org/10.1007/s00384-022-04126-6
Autor:
Pedro Pinto, Manuel R. Teixeira, Rui Santos, João Silva, Catarina Santos, Ana Peixoto, Carla Escudeiro, Susana Bizarro, Joana Guerra, Carla M. A. Pinto, Manuela Pinheiro
Publikováno v:
Cancer Genetics. :18-24
The genomic consequence and clinical interpretation of large duplications are difficult to infer without determining the location and orientation of the duplicated sequence. We aimed to characterize two intragenic duplications detected in two heredit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f68ec3d47ec63bf52bc846c15e7216d9
https://doi.org/10.1016/j.cancergen.2020.09.001
https://doi.org/10.1016/j.cancergen.2020.09.001
Autor:
Noélia, Custódio, Rosina, Savisaar, Célia, Carvalho, Pedro, Bak-Gordon, Maria I, Ribeiro, Joana, Tavares, Paula B, Nunes, Ana, Peixoto, Carla, Pinto, Carla, Escudeiro, Manuel R, Teixeira, Maria, Carmo-Fonseca
Publikováno v:
Biomedicines. 10(2)
Predictive biomarkers are crucial in clarifying the best strategy to use poly(ADP-ribose) polymerase inhibitors (PARPi) for the greatest benefit to ovarian cancer patients. PARPi are specifically lethal to cancer cells that cannot repair DNA damage b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::16d753df6bfab4ecb977f2c99c1d85d5
https://pubmed.ncbi.nlm.nih.gov/35203410
https://pubmed.ncbi.nlm.nih.gov/35203410
Autor:
Ana, Barbosa, Pedro, Pinto, Ana, Peixoto, Joana, Guerra, Carla, Pinto, Catarina, Santos, Manuela, Pinheiro, Carla, Escudeiro, Carla, Bartosch, João, Silva, Manuel R, Teixeira
Publikováno v:
Cancers
Simple Summary Germline and somatic variant testing of the BRCA1 and BRCA2 genes are important to predict treatment response to PARP inhibitors in ovarian cancer patients. However, germline variants in other genes besides BRCA1 and BRCA2 are associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f544d937538f6b04f85503a05148c66b
https://pubmed.ncbi.nlm.nih.gov/33008098
https://pubmed.ncbi.nlm.nih.gov/33008098
Autor:
Nuno Coimbra, Manuel R. Teixeira, Carla Escudeiro, Marco Ferreira, Joana Guerra, Pedro Pinto, Joana Vieira, Rui Santos, Catarina Santos, Ana Berta Sousa, Ana Peixoto, Manuela Pinheiro, Paula Lopes, C. Leal, Carla M. A. Pinto, João Silva, Susana Lisboa
Publikováno v:
Familial cancer. 20(3)
Breast cancer is the most frequent event in Li-Fraumeni syndrome associated with germline TP53 variants. Some studies have shown that breast cancers in women with Li-Fraumeni syndrome are commonly HER2-positive, suggesting that HER2 amplification or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::930f2af97a7995afe1014e782285d9c3
https://pubmed.ncbi.nlm.nih.gov/33051812
https://pubmed.ncbi.nlm.nih.gov/33051812
Autor:
Carla M. A. Pinto, Catarina Santos, Pedro Pinto, Manuel R. Teixeira, Ana Peixoto, Ana Barbosa, Manuela Pinheiro, Carla Escudeiro, Joana Guerra, João Silva, Carla Bartosch
Publikováno v:
Cancers, Vol 12, Iss 2834, p 2834 (2020)
Cancers
Volume 12
Issue 10
Cancers
Volume 12
Issue 10
Since the approval of PARP inhibitors for the treatment of high-grade serous ovarian cancer, in addition to cancer risk assessment, BRCA1 and BRCA2 genetic testing also has therapeutic implications (germline and somatic variants) and should be offere
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5581202f9e3a88b02b4efb88b9e7407a
https://doi.org/10.3390/cancers12102834
https://doi.org/10.3390/cancers12102834