Background: The process of malignant transformation, progression and metastasis of melanoma is poorly understood. Gene expression profiling of human cancer has allowed for a unique insight into the genes that are involved in these processes. Thus, we have attempted to utilize this approach through the analysis of a series of primary, non-metastatic cutaneous tumors and metastatic melanoma samples.

Elevated temperature (28-WC) has been hypothesized as the primary cause of the loss of algal endosymbionts in coral reef-associated invertebrates, a phenomenon observed on a world-wide scale over the last decade. In past studies of this "bleaching" phenomenon, there has been an underlying assumption that temperature adversely affects the animal hosts, the algae thereby being relegated to a more passive role. Because photosynthesis is a sensitive indicator of thermal stress in plants and has a central role in the nutrition of symbiotic invertebrates, we have tested the hypothesis that elevated temperature adversely affects photosynthesis in the symbiotic dinoagellate Symbiodinium microadriaicum. The results, based on analyses of light-mediated 02 evolution and in vivo fluorescence, indicate that photosynthesis is impaired at temperatures above 30°C and ceases completely at 34-36WC. These observations are discussed in the context of possible mechanisms that may function in the disaciation of alglinvertebrate symbioses in response to elevated temperature.

The population of Argentina is the result of the intermixing between several groups, including Indigenous American, European and African populations. Despite the commonly held idea that the population of Argentina is of mostly European origin, multiple studies have shown that this process of admixture had an impact in the entire Argentine population. In the present study we characterized the distribution of Indigenous American, European and African ancestry among individuals from different regions of Argentina and evaluated the level of discrepancy between self-reported grandparental origin and genetic ancestry estimates. A set of 99 autosomal ancestry informative markers (AIMs) was genotyped in a sample of 441 Argentine individuals to estimate genetic ancestry. We used non-parametric tests to evaluate statistical significance. The average ancestry for the Argentine sample overall was 65% European (95%CI: 63–68%), 31% Indigenous American (28–33%) and 4% African (3–4%). We observed statistically significant differences in European ancestry across Argentine regions [Buenos Aires province (BA) 76%, 95%CI: 73–79%; Northeast (NEA) 54%, 95%CI: 49–58%; Northwest (NWA) 33%, 95%CI: 21–41%; South 54%, 95%CI: 49–59%; p<0.0001] as well as between the capital and immediate suburbs of Buenos Aires city compared to more distant suburbs [80% (95%CI: 75–86%) versus 68% (95%CI: 58–77%), p = 0.01]. European ancestry among individuals that declared all grandparents born in Europe was 91% (95%CI: 88–94%) compared to 54% (95%CI: 51–57%) among those with no European grandparents (p<0.001). Our results demonstrate the range of variation in genetic ancestry among Argentine individuals from different regions in the country, highlighting the importance of taking this variation into account in genetic association and admixture mapping studies in this population.

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.Electronic supplementary materialThe online version of this article (doi:10.1007/s10549-015-3629-3) contains supplementary material, which is available to authorized users.

BACKGROUND Breast carcinoma is the most common cancer and the second leading cause of cancer‐related deaths among women. The disease represents approximately 31% of all cancers in Puerto Rican women. Several DNA repair pathways are involved in preventing carcinogenesis. The current study evaluated the hypothesis that a reduced DNA repair capacity (DRC) is a susceptibility factor for breast carcinoma. METHODS A retrospective case–control clinical study was performed to compare age‐matched DRC in 33 women with histopathologically confirmed breast carcinoma (cases) and 47 cancer‐free women (controls). DRC was measured using a host cell reactivation assay with a luciferase reporter gene and then transfected into human peripheral lymphocytes. A questionnaire was used to solicit breast carcinoma risk factors. RESULTS Women with breast carcinoma had a mean DRC of 5.6% ± 0.5 standard error of the mean (SEM). Cancer cases had a 36% reduction (P < 0.001) in DRC when compared with the control group (DRC = 8.7% ± 0.7 SEM). Younger participants with breast carcinoma were found to have a more significant reduction in DRC when compared with age‐matched controls. Family (odds ratio [OR] = 4.1), maternal lineage (OR = 5.5), and maternal (OR = 12.4) history of breast carcinoma were found to be the only statistically significant (P < 0.05) risk factors associated with the disease. CONCLUSIONS The findings supported the hypothesis that a low DRC is a susceptibility factor for breast carcinoma. A 1% decrease in DRC corresponded to a 22% increase in breast carcinoma risk. To the authors' knowledge, the current study was the first to directly determine the DRC of women with breast carcinoma. Because DRC is an independent risk factor for breast carcinoma, the DRC of women may be a useful marker in predicting susceptibility. Cancer 2004;100:1352–7. © 2004 American Cancer Society.