72 research outputs found
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
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)
Interventi tecnologici per la valorizzazione delle olive da tavola della varietà "Manna"
Sardinia table olives are chiefly obtained with the natural style, by processing green fruits. Due to lack of scientific data products are of low quality. The present study was aimed to verify the effectiveness of some technological steps, such as brine acidification and sugar or microbial starter adjunct on main chemical-physical
parameters of "Manna". Results clearly show beneficial effects of starter inoculation and acidification and on the sensorial and safety standpoint.
La produzione di olive da mensa in Sardegna è condotta quasi esclusivamente con il metodo al naturale su olive verdi. Tale tecnologia, vista anche la mancanza di documentazione scientifica al riguardo, porta spesso all'ottenimento di un prodotto scadente.
Con il presente lavoro si è verificata l'efficacia di alcuni interventi tecnologici, quali l'acidificazione
della salamoia e l'aggiunta di substrato fermentescibile o di starter microbici, sui
principali parametri chimico-fisici delle olive della varietà "Manna". I risultati ottenuti evidenziano
gli effetti positivi, dal punto di vista sensoriale e igienico-sanitario, dello starter e dell'acidificazione
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
Epidemiology of thyroid cancer in an area of epidemic thyroid goiter
The aim of this study was to analyze and describe the epidemiological characteristics and trends of thyroid cancer in the province of Sassari (Sardinia, Italy), an area with epidemic thyroid goiter, in the period 1992–2010. Data were obtained from the local tumor registry whichmakes part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. An increasing
trend in the incidence of thyroid cancer in the province of Sassari was evidenced. This trend seems to follow the general worldwide trend and does not seem to be related to the high incidence of thyroid goiter in the area. The frequencies of the different histological subtypes were similar to those reported in numerous national and international reports.Women are affected earlier than men and, therefore, suffer greater professional, economic, and social impacts.Overallmortality is lowand a relative 5-year survival is excellent, especially in comparison to other malignancies
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population
Abstract
Background
Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles.
Methods
We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500Â K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs.
Results
Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p < 10−6 level. Twenty of these regions contained defined genes, including one already associated with breast cancer risk: TOX3. With a lower threshold for preliminary significance to p < 10−5, we identified 11 additional SNPs in FGFR2, a well-established breast cancer-associated gene. Ten candidate SNPs were selected, excluding those already associated with breast cancer, for technical validation as well as replication in 1668 samples from the same population. Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16x10−5), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts.
Conclusions
This study indicated the role of TOX3 and FGFR2 as breast cancer susceptibility genes in BRCA1/2-wild-type breast cancer patients from Sardinian population
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.
BACKGROUND: Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles. METHODS: We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs. RESULTS: Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p <  0(-6) level. Twenty of these regions contained defined genes, including one already associated with breast cancer risk: TOX3. With a lower threshold for preliminary significance to p < 10(-5), we identified 11 additional SNPs in FGFR2, a well-established breast cancer-associated gene. Ten candidate SNPs were selected, excluding those already associated with breast cancer, for technical validation as well as replication in 1668 samples from the same population. Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16 x 10(-5)), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts. CONCLUSIONS: This study indicated the role of TOX3 and FGFR2 as breast cancer susceptibility genes in BRCA1/2-wild-type breast cancer patients from Sardinian population
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population
<p>Abstract</p> <p>Background</p> <p>In recent years, numerous studies have assessed the prevalence of germline mutations in <it>BRCA1 </it>and <it>BRCA2 </it>genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of <it>BRCA1-2 </it>mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of <it>BRCA1-2 </it>germline mutations was also evaluated.</p> <p>Methods</p> <p>Three hundred and forty-eight breast cancer patients presenting a familial recurrence of invasive breast or ovarian carcinoma with at least two affected family members were screened for <it>BRCA1-2 </it>mutations by DHPLC analysis and DNA sequencing. Association of <it>BRCA1 </it>and <it>BRCA2 </it>mutational status with clinical and pathological parameters was evaluated by Pearson's Chi-Squared test.</p> <p>Results and Conclusion</p> <p>Overall, 8 <it>BRCA1 </it>and 5 <it>BRCA2 </it>deleterious mutations were detected in 35/348 (10%) families; majority (23/35;66%) of mutations was found in <it>BRCA2 </it>gene. The geographical distribution of <it>BRCA1-2 </it>mutations was related to three specific large areas of Sardinia, reflecting its ancient history: <it>a</it>) the Northern area, linguistically different from the rest of the island (where a <it>BRCA2 c.8764_8765delAG </it>mutation with founder effect was predominant); <it>b</it>) the Middle area, land of the ancient Sardinian population (where <it>BRCA2 </it>mutations are still more common than <it>BRCA1 </it>mutations); and <it>c</it>) the South-Western area, with many Phoenician and Carthaginian locations (where <it>BRCA1 </it>mutations are prevalent). We also found that phenotypic features such as high tumor grading and lack of expression of estrogen/progesterone receptors together with age at diagnosis and presence of ovarian cancer in the family may be predictive for the presence of <it>BRCA1-2 </it>germline mutations.</p
A Role of <i>BRCA1</i> and <i>BRCA2</i> germline mutations in breast cancer susceptibility within Sardinian population
Background. In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated.
Methods. Three hundred and forty-eight breast cancer patients presenting a familial recurrence of invasive breast or ovarian carcinoma with at least two affected family members were screened for BRCA1-2 mutations by DHPLC analysis and DNA sequencing. Association of BRCA1 and BRCA2 mutational status with clinical and pathological parameters was evaluated by Pearson's Chi-Squared test.
Results and Conclusion. Overall, 8 BRCA1 and 5 BRCA2 deleterious mutations were detected in 35/348 (10%) families; majority (23/35;66%) of mutations was found in BRCA2 gene. The geographical distribution of BRCA1-2 mutations was related to three specific large areas of Sardinia, reflecting its ancient history: a) the Northern area, linguistically different from the rest of the island (where a BRCA2 c.8764_8765delAG mutation with founder effect was predominant); b) the Middle area, land of the ancient Sardinian population (where BRCA2 mutations are still more common than BRCA1 mutations); and c) the South-Western area, with many Phoenician and Carthaginian locations (where BRCA1 mutations are prevalent). We also found that phenotypic features such as high tumor grading and lack of expression of estrogen/progesterone receptors together with age at diagnosis and presence of ovarian cancer in the family may be predictive for the presence of BRCA1-2 germline mutations
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