4 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...
The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women dia...
Giacomazzi, Juliana; Correia, Rudinei Luis; Palmero, Edenir Ines; Gaspar, Jorge Francisco; Almeida, Marta; Portela, Catarina; Camey, Suzi AlvesSince the first studies reporting the TP53 p.R337H mutation as founder mutation in Southern and Southeastern Brazil, there has been controversy on its origin. Preliminary analysis of a small subset of Brazilian mutation carriers revealed that the haplotype incided on a Caucasian background. The vast majority of carriers identified today reside in Brazil or, if identified in other countries, are Brazilian immigr...
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset
Pinto, Carla; Veiga, Isabel; Pinheiro, Manuela; Peixoto, Ana; Pinto, Armando; Lopes, José M.; Reis, R. M.; Baptista, Manuela; Roque, LúciaThe Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant disease caused by TP53 germline mutations. This study aimed to characterize the TP53 mutational spectrum in patients suspected to have LFS in Portugal and to evaluate the influence of the MDM2-SNP309 and TP53-72Arg variants and of telomere length on age of tumor onset. Probands were primarily selected using the classical LFS criteria (two cases) or th...