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A novel deleterious variant and a founder effect in four new families of MBD4-A...
Querido, Inês; Pinto, Carla; Arinto, Patrícia; Brandão, Andreia; Santos, Catarina; Pinheiro, Manuela; Guerra, Joana; Silva, João; Peixoto, AnaDNA glycosylases play a crucial role in DNA repair mediated by the base excision repair (BER) pathway, and alterations in these enzymes have been associated with hereditary cancer predisposition. Recently, germline biallelic loss-of-function variants in MBD4 were shown to be responsible for a novel autosomal recessive multi-tumor predisposition syndrome, provisionally denominated as MBD4-associated neoplasia sy...
Combined germline and tumor mutation signature testing identifies new families ...
Pinto, Carla; Guerra, Joana; Pinheiro, Manuela; Escudeiro, Carla; Santos, Catarina; Pinto, Pedro; Porto, Miguel; Bartosch, Carla; Silva, JoãoNTHL1 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 index patients by KASP assay or next-generation sequencing, including 228 patients with colorectal polyposis and 239 patients with familial/personal history of mul...
Frequency of CDH1, CTNNA1 and CTNND1 germline variants in families with diffuse...
Guerra, Joana; Pinto, Carla; Pinto, Pedro; Pinheiro, Manuela; Santos, Catarina; Peixoto, Ana; Escudeiro, Carla; Barbosa, Ana; Porto, MiguelHereditary diffuse gastric cancer (HDGC) is caused by germline pathogenic variants in the CDH1 and CTNNA1 genes and is characterized by a high prevalence of diffuse gastric cancer and lobular breast cancer. We aimed to evaluate the contribution of CTNNA1 and CTNND1 germline variants to HDGC, as well as to compare the frequencies of CDH1 and CTNNA1 (and eventually CTNND1) germline variants between patients with ...
The facilitators of interagency working in the context of European public servi...
Connolly, John; Barnes, Jacqueline; Guerra, Joana; Pyper, RobertThis article provides an overview of key lessons about the governance and leadership of interagency working in multi-level contexts. The article is based on interviews with local and national leaders across Europe. This topic is timely given the complexity of European public sector governance which demands leadership, co- production, and styles of collaboration which promote partnership- working within local co...
Manuela COUTINHO, Economia Social em Portugal. A emergência do terceiro sector ...
Guerra, Joana