3 documents found, page 1 of 1
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 ...
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...
Expression profiling in ovarian cancer reveals coordinated regulation of BRCA1/...
Custódio, Noélia; Savisaar, Rosina; Carvalho, Célia; Bak-Gordon, Pedro; Ribeiro, Maria I.; Almeida-Tavares, Joana; Nunes, Paula B.; Peixoto, CarolinaPredictive 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 by homologous recombination (HR), and HR deficiency is frequently associated with BRCA1/2 mutations. Genetic tests for BRCA1/2 mutations are currently used in the cl...