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The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

ABSTRACT: Hereditary cancer predisposition gene testing allows the identification of individuals at high risk of cancer that may benefit from increased surveillance, chemoprevention, and prophylactic surgery. In order to implement clinical genetic strategies adapted to each population's needs and intrinsic genetic characteristic, this review aims to present the current status of knowledge about the spectrum of BRCA pathogenic variants in Latin American populations. We have conducted a comprehensive review of 33 studies published between 1994 and 2015 reporting the prevalence and/or spectrum of BRCA1 (OMIM 113705) and BRCA2 (OMIM 600185) variants. The combined sample size for these studies consisted of 4835 individuals from 13 countries in Latin America and the Caribbean, as well as in Hispanics in the United States. A total of 167 unique pathogenic variants have been reported in the existing literature. In unselected breast cancer cases, the prevalence ranged from 1.2 to 27.1%. Some countries presented a few recurrent pathogenic variants, while others were characterized by diverse, non-recurrent variants. The proportion of BRCA pathogenic variants shared between Hispanics in the United States and Latin American populations was estimated at 10.4%. Within Latin America and the Caribbean, 8.2% of the BRCA variants reported were present in more than one country. Countries with high prevalence of BRCA pathogenic variants may benefit from more aggressive testing strategies, while testing of recurrent variant panels might present a cost-effective solution for improving genetic testing in some, but not all, countries.

SUBMITTER: Dutil J

PROVIDER: S-EPMC4661195 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Dutil Julie J Golubeva Volha A VA Pacheco-Torres Alba L AL Diaz-Zabala Hector J HJ Matta Jaime L JL Monteiro Alvaro N AN

Breast cancer research and treatment 20151112 3

Hereditary cancer predisposition gene testing allows the identification of individuals at high risk of cancer that may benefit from increased surveillance, chemoprevention, and prophylactic surgery. In order to implement clinical genetic strategies adapted to each population's needs and intrinsic genetic characteristic, this review aims to present the current status of knowledge about the spectrum of BRCA pathogenic variants in Latin American populations. We have conducted a comprehensive review ...[more]

PMID: 26564481

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Project description:Introduction:The homicide rates among young men in Latin America and the Caribbean (LAC) are the highest in the world. It is not clear how this has impacted the life expectancy in these countries. This research has two purposes: (1) to quantify the impact of homicides on the mortality gap between LAC and high-income countries over recent years and (2) to assess the changes in homicide impact in overall survival over time. Methods:Causes of death data were extracted for 23 countries in the LAC and 15 European countries (average European union-15 [EU-15]), using UN, UNODC, WHO, HMD and IHME databases for the period 2005-2014. The contribution by homicide deaths to the change in life expectancy, over time and as a difference between two populations, was quantified using decomposition methods. Results:The contribution by homicide mortality to changes in life expectancy levels differed widely across the examined LAC countries. In Honduras, homicide mortality accounted for 1.75 (95% CI 1.64 to 1.86) and 6.30 (95% CI 6.07 to 6.53) years lower life expectancy than in the EU-15 countries for women and men, respectively. Contrary to this, homicide was just accountable for less than a couple of months of life expectancy differences between Chile and EU-15. Jamaica had the largest reduction in homicides and its impact increased life expectancy over time by almost half a year for men. However, Mexican men and Honduran women have experienced increases in mortality by homicide, which decreased their life expectancy by more than a quarter of a year between 2005 and 2014. Conclusions:Excess mortality related to homicides in young people accounted for major changes in life expectancy in the LAC region. Furthermore, reducing excess mortality due to homicides is a crucial goal to further increase longevity towards levels of low-mortality countries. These reductions might prevent homicides spreading to other parts of Latin America. Decision and policy-makers in LAC need to address this immediately, and investing in the young population needs to be given a high priority.

Project description:BackgroundThe COVID-19 pandemic has placed unprecedented stress on economies, food systems, and health care resources in Latin America and the Caribbean (LAC). Existing surveillance provides a proxy of the COVID-19 caseload and mortalities; however, these measures make it difficult to identify the dynamics of the pandemic and places where outbreaks are likely to occur. Moreover, existing surveillance techniques have failed to measure the dynamics of the pandemic.ObjectiveThis study aimed to provide additional surveillance metrics for COVID-19 transmission to track changes in the speed, acceleration, jerk, and persistence in the transmission of the pandemic more accurately than existing metrics.MethodsThrough a longitudinal trend analysis, we extracted COVID-19 data over 45 days from public health registries. We used an empirical difference equation to monitor the daily number of cases in the LAC as a function of the prior number of cases, the level of testing, and weekly shift variables based on a dynamic panel model that was estimated using the generalized method of moments approach by implementing the Arellano-Bond estimator in R. COVID-19 transmission rates were tracked for the LAC between September 30 and October 6, 2020, and between October 7 and 13, 2020.ResultsThe LAC saw a reduction in the speed, acceleration, and jerk for the week of October 13, 2020, compared to the week of October 6, 2020, accompanied by reductions in new cases and the 7-day moving average. For the week of October 6, 2020, Belize reported the highest acceleration and jerk, at 1.7 and 1.8, respectively, which is particularly concerning, given its high mortality rate. The Bahamas also had a high acceleration at 1.5. In total, 11 countries had a positive acceleration during the week of October 6, 2020, whereas only 6 countries had a positive acceleration for the week of October 13, 2020. The TAC displayed an overall positive trend, with a speed of 10.40, acceleration of 0.27, and jerk of -0.31, all of which decreased in the subsequent week to 9.04, -0.81, and -0.03, respectively.ConclusionsMetrics such as new cases, cumulative cases, deaths, and 7-day moving averages provide a static view of the pandemic but fail to identify where and the speed at which SARS-CoV-2 infects new individuals, the rate of acceleration or deceleration of the pandemic, and weekly comparison of the rate of acceleration of the pandemic indicate impending explosive growth or control of the pandemic. Enhanced surveillance will inform policymakers and leaders in the LAC about COVID-19 outbreaks.

Dataset Information

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Publications

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

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