Origin and distribution of the BRCA2-8765delAG mutation in breast cancer

Background: The BRCA2-8765delAG mutation was firstly described in breast cancer families from French-Canadian and Jewish-Yemenite populations; it was then reported as a founder mutation in Sardinian families. We evaluated both the prevalence of the BRCA2-8765delAG variant in Sardinia and the putative existence of a common ancestral origin through a haplotype analysis of breast cancer family members carrying such a mutation. Methods: Eight polymorphic microsatellite markers (D13S1250, centromeric, to D13S267, telomeric) spanning the BRCA2 gene locus were used for the haplotype analysis. Screening for the 8765delAG mutation was performed by PCR-based amplification of BRCA2-exon 20, followed by automated sequencing. Results: Among families with high recurrence of breast cancer (≥ 3 cases in first-degree relatives), those from North Sardinia shared the same haplotype whereas the families from French Canadian and Jewish-Yemenite populations presented distinct genetic assets at the BRCA2 locus. Screening for the BRCA2-8765delAG variant among unselected and consecutively-collected breast cancer patients originating from the entire Sardinia revealed that such a mutation is present in the northern part of the island only [9/648 (1.4%) among cases from North Sardinia versus 0/493 among cases from South Sardinia]. Conclusion: The BRCA2-8765delAG has an independent origin in geographically and ethnically distinct populations, acting as a founder mutation in North but not in South Sardinia. Since BRCA2- 8765delAG occurs within a triplet repeat sequence of AGAGAG, our study further confirmed the existence of a mutational hot-spot at this genomic position (additional genetic factors within each single population might be involved in generating such a mutation)

Lung cancer epidemiology in North Sardinia, Italy

Background The aim of this study was to analyze and describe the epidemiological characteristics and trends of lung cancer in North Sardinia, Italy, in the period 1992–2010. Methods Data were obtained from the tumor registry of Sassari province which is a part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. Results The overall number of lung cancer cases registered was 4,325. The male-to-female ratio was 4.6:1 and the mean age 68.1 years for males and 67 years for females. The standardized incidence rates were 73.1/100,000 and 13.5/100,000 and the standardized mortality rates 55.7/100,000 and 9.9/100,000 for males and females, respectively. An increasing trend in incidence of lung cancer in women was evidenced. Conversely, incidence was found to decrease in males. Relative survival at 5 years from diagnosis was low (8.8% for males and 14.9% for females). Furthermore, an increase in mortality rates was observed in both sexes in the period under investigation. Conclusions Our data show an increasing trend of lung cancer incidence in women in North Sardinia in the last decades. Conversely, a reduction of incidence rates was observed in males. Furthermore, a slightly increasing trend in mortality rates was observed in both sexes, suggesting the need to enhance smoking control strategies, consider adoption of effective surveillance policies, and improve diagnosis and treatment methods

Breast cancer incidence and mortality in North Sardinia in the period 1992–2010

The aim of this study was to analyze and describe the epidemiological characteristics and trends of breast cancer in Sassari province (Sardinia, Italy) in the period 1992 2010. Data were obtained from the local tumor registry which makes part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. The overall number of breast cancer cases registered was 5,483 (46 males and 5,437 females). The mean age was 64.8 years for males and 60.4 years for females. The standardized incidence rates were 1/100,000 and 106.2/100,000 and the standardized mortality rates 0.3/100,000 and 23.2/100,000 for males and females respectively. An increasing trend in incidence and mortality rates of breast cancer in Sassari province was evidenced in the years under investigation. Relative survival at 5 years from diagnosis was 78.2% (73.1% for males and 78.3% for females

Apicomplexa diffusion in tissue samples from slaughtered sheep in Sardinia (Italy)

Sheep breeding plays in Sardinia a major role for the economy of the island with over than 3 millions of animals raised mostly with extensive methods. The results of the present work allow us to conclude that N. caninum did not constitute a health problem for the sheep coming from the monitored districts

Gastro-intestinal parasites of pigs in Sardinia: a copromicroscopical investigation

This paper illustrates a copromicroscopical investigation carried out in Sardinia to update epidemiological data on diffusion of gastro-intestinal parasites in swine. Results obtained lead to suggest the employment of copromicroscopic exam to monitorate parasites diffusion in swine breedings in order to set up correct prophylactic and therapeutically intervents

Detection of <i>Mycobacterium avium</i> subsp. <i>paratuberculosis</i> (MAP) in animals and human tissue

The aim of this work was the detection of MAP in human with CD and in ovine with natural and experimental PTBC, by in “situ” techniques. ISH showed strong signals in the macrophages infiltrating the mucosal and submucosal layers in PTBC samples and positive signals in macrophages of CD cases. Furthermore, ISPCR signals were more numerous than those obtained by ISH. This result indicate that ISPCR is able to detect also less copies of MAP DNA

An Epidemiological and biomolecular survey of cystic echinococcosis in cattle in Sardinia

Although Cystic Echinococcosis (CE) is still a health, economic and social problem of great importance in Sardinia today, not all aspects of it have been studied, and in particular its epidemiology in cattle. This note updates the epidemiological data on Bovine CE in Sardinia, and with the help of advances made in biomolecular taxonomy identifies the strains of Echinococcus granulosus in cattle

Assessing the effect of rotational grazing adoption in Iberian silvopastoral systems with Normalized Difference Vegetation Index time series

Adaptive Multi-Paddock (AMP) is a grazing system which combines intensive, rapid grazing livestock rotation with relatively short grazing periods and long recovery time after grazing. The study assesses, under Mediterranean silvopastoral systems, changes in pasture phenology and spatial variability after adopting the AMP under contrasting land cover (Wooded Grassland vs Grassland ) with a remote sensing approach based on the time-series analysis of Normalized Difference Vegetation Index (NDVI) from remote sensing through Landsat satellite. The study revealed an overall positive effect of rotational grazing on pasture phenology and NDVI spatial variability. The AMP adoption resulted in higher estimated values of NDVI at the beginning (under grassland land cover), the end, and the peak of the growing season, while no differences were observed in parameters estimating the length of the growing season. The spatial variability of NDVI was always lower under AMP than in continuously grazed areas, except in the early stages of the growing season under grassland land cover. The results suggested that in a relatively short period (4-5 years), the AMP grazing system can represent a strategy to improve forage availability and exploitation by grazing animals under low stocking rates in extensively managed Mediterranean silvopastoral systems

Role of BRCA2 mutation status on overall survival among breast cancer patients from Sardinia

Background: Germline mutations in BRCA1 or BRCA2 genes have been demonstrated to increase the risk of developing breast cancer. Conversely, the impact of BRCA mutations on prognosis and survival of breast cancer patients is still debated. In this study, we investigated the role of such mutations on breast cancer-specific survival among patients from North Sardinia. Methods: Among incident cases during the period 1997–2002, a total of 512 breast cancer patients gave their consent to undergo BRCA mutation screening by DHPLC analysis and automated DNA sequencing. The Hakulinen, Kaplan-Meier, and Cox regression methods were used for both relative survival assessment and statistical analysis. Results: In our series, patients carrying a germline mutation in coding regions and splice boundaries of BRCA1 and BRCA2 genes were 48/512 (9%). Effect on overall survival was evaluated taking into consideration BRCA2 carriers, who represented the vast majority (44/48; 92%) of mutation-positive patients. A lower breast cancer-specific overall survival rate was observed in BRCA2 mutation carriers after the first two years from diagnosis. However, survival rates were similar in both groups after five years from diagnosis. No significant difference was found for age of onset, disease stage, and primary tumour histopathology between the two subsets. Conclusion: In Sardinian breast cancer population, BRCA2 was the most affected gene and the effects of BRCA2 germline mutations on patients' survival were demonstrated to vary within the first two years from diagnosis. After a longer follow-up observation, breast cancer-specific rates of death were instead similar for BRCA2 mutation carriers and non-carriers

Evaluation of the efficacy of anthelminthic treatments against sheep gastro-intestinal nematodes in Sardinia

Despite the rising of new methodologies for the controi of endoparasites in animais of zootechnic value, such as phytotherapy, homeopathy, and genetie selection for screening of resistant individuais (Gruner L, 2002, Acta SIPAOC, 15: 80-89; Carta A, Scala A, 2004, Parassitologia, 46: 251-255) and hypothetic vaccinations against NGI (Vercruysse J, 2004, Parassitologia, 46: 261), anthelminthie treatments stilI remains the most applied measure in the field