Browsing by Author "Alvarez, Carolina"

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    ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?
    (2008) Tapia, Teresa; Sanchez, Alejandro; Vallejos, Maricarmen; Alvarez, Carolina; Moraga, Mauricio; Smalley, Susan; Camus, Mauricio; Alvarez, Manuel; Carvallo, Pilar
    Besides BRCA1 and BRCA2, two genes accounting for a small proportion of breast cancer cases, ATM has been widely proposed as a low-penetrance susceptibility gene. Several nucleotide changes have been proposed to be associated with breast cancer, still remaining a high controversy in this sense. We screened the ATM gene in 94 breast cancer patients selected from 78 high-risk families, not presenting a mutation in BRCA1 or BRCA2. We found three novel allelic variants: IVS64 + 51delT and p.L752L, not showing association with hereditary breast cancer, and p.L694L found in one family in two breast cancer patients. Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer. A positive association of c. 5557G > A (p.D1853N) was found (OR 2.52, P = 0.008), when analyzed alone and in combination with an intronic variant IVS24-9delT (OR 3.97; P = 0.0003). We postulate that our discrepancies with other reports related to the associated ATM alleles to hereditary breast cancer, as well as discrepancies in the literature between other groups, could be explained by the diversity in the ethnic origins of families gathered in a sole study, and the selection of the control group. In relation to this issue, and based on genetic markers, we found that the Chilean group of breast cancer families in this study has a stronger European genetic component than our control sample selected randomly from the Chilean population.
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    Children's storybooks as a source of mental state references: Comparison between books from Chile, Colombia, Scotland and USA
    (ELSEVIER SCIENCE INC, 2020) Farkas, Chamarrita; Pia Santelices, Maria; Vallotton, Claire D.; Brophy Herb, Holly E.; Iglesias, Manuela; Sieverson, Catalina; del Pilar Cuellar, Maria; Alvarez, Carolina
    Children's storybooks may be considered as an important resource for young children to learn about different mental states (emotions, desires, cognitions); however, mental states represented in stories vary, and may vary across cultures. This study investigates preschoolers' storybooks from Chile, Colombia, Scotland, and the USA to test similarities and differences in rates and types of mental references. The texts in 160 children's storybooks (40 per country) were coded. Results showed similarities between countries in the references to desires, psychological states, and physical expressions. Differences between countries were observed, where Chilean books contained more references to cognitions, mood states, and causal talk compared with USA books, and more references to emotions and causal talk compared with Scottish books. Also, Colombian books had more references to emotions and causal talk compared with Scotland and USA books, and more references to physiological states compared with Chilean and Scottish books. Finally, USA books contained more references to perceptions in comparison to Colombian and Scottish books. Similarities were identified between Chilean and Colombian books, and between Scotland and USA books, and more differences between South American books (Chile, Colombia) and those from Scotland and the USA.
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    BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients
    (2022) Alvarez, Carolina; Ortega-Hernandez, Victoria; Cortez, Aracely; Carvallo, Pilar
    Background In a previous work, we identified nine founder mutations present in close to 80% of BRCA1 and BRCA2 mutation carriers, and distributed across the country. The presence of founder mutations constitutes a valuable opportunity to develop new strategies for genetic screening. Genetic tests are primarily performed by NGS sequencing, which requires sophisticated and expensive equipment, and it takes 2-3 weeks for the results to be informed to the patient. In addition, genetic tests are not covered by insurance companies in Latin American countries. In this work, we present the standardization and technical validation of a real-time PCR based methodology for allelic discrimination in order to identify the nine Chilean founder mutations in BRCA1 and BRCA2 genes. Methods and results We designed nine pairs of probes and nine pairs of primers to amplify synchronically nine regions of the BRCA1/BRCA2 genes by real-time PCR, in order to identify the nine founder mutations through allelic discrimination analyses. Technical validation was performed using 90 positive and 90 negative samples for each mutation. The methodology was tested in a second group of 60 patients. Our method correctly classified carriers and non-carriers of one of the nine Chilean founder mutations with a 100% specificity and 100% sensitivity, compared with Sanger sequencing performance. Conclusions We develop an inexpensive, simple, and fast mutation detection method that could be implemented locally in Hospitals from the Private to Public health system. This methodology may be useful for the screening of BRCA1 and BRCA2 mutations in other populations.