Publications by authors named "C Fridman"
Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside North America and Europe. Therefore, this study assesses the sociodemographic profile, motivations, and impacts of DTC-GT among Brazilian consumers. DTC-GT customers were invited to complete a 30-question online survey anonymously.
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- - The study explored the presence of pathogenic germline variants in Brazilian patients with pancreatic adenocarcinoma, involving 192 unselected patients and analyzing 113 cancer-related genes, revealing a median age of 61 years and a significant portion presenting advanced disease stages.
- - Of the patients, 6.25% carried pathogenic variants linked to known pancreatic cancer genes, while 13% had variants in genes with less established associations, with CHEK2, ATM, and FANC being the most affected.
- - No differences in the prevalence of these variants were found based on family cancer history or ancestry, suggesting that all Brazilian pancreatic cancer patients should undergo genetic testing regardless of their background.
Introduction: This paper examines the productive vocabulary skills of five groups of English-Hebrew bilinguals in Israel and the United States. The juxtaposition of these five groups allows us to simultaneously compare performance across dominance profiles, acquisition contexts (L2 learned in school, HL maintained at home, immigration and immersion), and countries (Israel and the USA).
Methods: A total of 185 participants took part in study: Hebrew-dominant heritage English speakers, Hebrew-dominant L2-English speakers, English-dominant heritage Hebrew speakers, and English-dominant L2-Hebrew speakers in the US and in Israel.
The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation in two distinct haplotypes with the most frequent co-segregating with the p.
View Article and Find Full Text PDFBacteria use the type VI secretion system (T6SS) to deliver toxic effectors into bacterial or eukaryotic cells during interbacterial competition, host colonization, or when resisting predation. Identifying effectors is a challenging task, as they lack canonical secretion signals or universally conserved domains. Here, we identify a protein domain, RIX, that defines a class of polymorphic T6SS cargo effectors.
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