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1.
Eur J Gynaecol Oncol ; 36(1): 69-72, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25872338

RESUMEN

INTRODUCTION: The aim of this study was to analyze and describe the incidence and mortality trends of ovarian cancer in North Sardinia, Italy, in the period 1992-2010. MATERIALS AND METHODS: Data were obtained from the tumor registry of Sassari province which makes part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. RESULTS: The overall number of ovarian cancer cases registered in the period under investigation was 600. The mean age of the patients was 62 years. The standardized incidence and mortality rates were 11.2/100,000 and 5.1/100,000 respectively. A substantially stable trend in incidence and mortality of ovarian cancer was evidenced. Relative survival at five years from diagnosis was 44.2%. CONCLUSIONS: The incidence and mortality trends of ovarian cancer in North Sardinia remained relatively stable in the last decades, while prognosis remains relatively poor.


Asunto(s)
Neoplasias Ováricas/epidemiología , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Italia/epidemiología , Persona de Mediana Edad , Mortalidad/tendencias , Neoplasias Ováricas/mortalidad , Pronóstico , Sistema de Registros , Tasa de Supervivencia , Adulto Joven
2.
Eur J Gynaecol Oncol ; 35(5): 544-7, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25423701

RESUMEN

INTRODUCTION: The aim of this study was to analyze and describe the incidence and mortality trends of cervical cancer in northern Sardinia, Italy, in the period 1992-2010. MATERIALS AND METHODS: Data were obtained from the tumor registry of Sassari province which is part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. RESULTS: The overall number of cervical cancer cases registered in the period under investigation was 311. The mean age of the patients was 51.8 years. The standardized incidence and mortality rates were 6.6 / 100.000 and 0.7 / 100.000, respectively. A stable trend in incidence and mortality of cervical cancer was evidenced. Relative survival at five years from diagnosis was fairly good (66.3%). CONCLUSIONS: The incidence and mortality trends of cervical cancer in northern Sardinia remained relatively stable in the last decades. Furthermore, survival of patients with cervical cancer is good in the area, sanctioning the adequacy of the preventive and clinical measures in use.


Asunto(s)
Neoplasias del Cuello Uterino/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Italia/epidemiología , Persona de Mediana Edad , Neoplasias del Cuello Uterino/mortalidad
3.
Ann Oncol ; 22(4): 957-963, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20952599

RESUMEN

BACKGROUND: In Italy, some of the highest incidence rates (IRs) of thyroid cancer (TC) worldwide have been reported. PATIENTS AND METHODS: TC cases <85 years of age reported to Italian cancer registries during 1991-2005 were included. Age-standardized IRs were computed for all TC and age-period-cohort effects were estimated for papillary TC. RESULTS: IRs of TC were twofold higher in 2001-2005 than in 1991-1995 (18 and 8 per 100,000 women, 6 and 3 per 100,000 men, respectively). Increases were similar in the two sexes and nearly exclusively due to papillary TC. Increases of papillary TC by birth cohort were found in both sexes and among all age groups between 20 and 79 years. Age-period-cohort models showed a strong period effect in both sexes (rate ratio for 2001-2009 versus 1991-1995 = 2.5 in women and 2.3 in men), although IRs peaked at an earlier age in women (45-49 years) than men (65-69 years). CONCLUSION: The strength of the period effect in both sexes and the earlier onset in women than men strongly implicated increased medical surveillance in the upward trends of papillary TC incidence in Italy. The consequences of the current intense search for TC on morbidity and possible overtreatment, especially among young women, should be carefully evaluated.


Asunto(s)
Neoplasias de la Tiroides/epidemiología , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Efecto de Cohortes , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Vigilancia de la Población , Sistema de Registros/estadística & datos numéricos , Factores de Tiempo
4.
Med Lav ; 101(3): 189-98, 2010.
Artículo en Italiano | MEDLINE | ID: mdl-20812660

RESUMEN

BACKGROUND: Various epidemiological studies explored cancer mortality and incidence among petrochemical workers. We followed up cancer incidence in a cohort of 5350 male petrochemical workers in the industrial area of Porto Torres (Sardinia, Italy). MATERIAL AND METHODS: The follow-up covered the period from 01/01/1990, when completeness of the cohort was certain and reference rates by the local Cancer Registry became available, up to 31/12/2006. Cohort members were subjects employed for six months or more in one of the chemical plants of the industrial area, alive as at 01/01/1990. Overall, a total of 81,392 person-years at risk were accumulated. The standardized incidence ratio (sir), as the ratio of observed to expected events, and its 95% confidence interval (CI) were calculated for all cancers and selected cancer sites, in the total cohort and in sub-cohorts of workers in plants where exposure to chemical agents evaluated in the IARC Monographs might have occurred. RESULTS: An increase in risk for all cancers was observed in the total cohort (596 cases; sir = 1.09; 95% CI 1.00-1.18), and it was highest for non-Hodgkin lymphoma (NHL, 26 cases: sir = 1.78; 95% CI 1.22-2.62). Risk for haemolymphatic cancer was highest in the sub-cohort of workers employed for 10 years or more, with a latency period of 20 years or longer, and among those employed in the manufacture and polymerization of vinyl chloride (VCM; all cancers, 51 cases: sir = 1.43; 95% CI 1.08-1.88; NHL, 4 cases: sir=4.06; 95% CI 1.64-10.0). Risk of haemolymphatic cancer was not significantly elevated in the sub-cohort potentially exposed to benzene. An excess risk of bladder cancer (RR = 1.46; 95% CI 1.09-1.96), but not of pleural cancer, was observed in the sub-cohort potentially exposed to asbestos. No significant increase in cancer risk was observed among workers potentially exposed to acrylonitrile, butadiene, or styrene. CONCLUSIONS: Our follow-up study of petrochemical workers showed an increase in risk for all cancers, and particularly NHL, apparently concentrated among workers potentially exposed to VCM


Asunto(s)
Industria Procesadora y de Extracción , Neoplasias/epidemiología , Enfermedades Profesionales/epidemiología , Estudios de Cohortes , Humanos , Incidencia , Italia/epidemiología , Masculino , Persona de Mediana Edad
6.
Med Vet Entomol ; 23(3): 217-25, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19712152

RESUMEN

The patchy geographical distributions of classic Kaposi's sarcoma (KS) and human herpesvirus type 8 (HHV-8), better known as Kaposi's sarcoma-associated herpesvirus (KSHV) remain unexplained. It has been proposed that certain species of bloodsucking insects ('promoter arthropods') promote the reactivation of HHV-8/KSHV and facilitate both HHV-8/KSHV transmission and KS development. This hypothesis was tested by sampling the presence and density of human-biting Diptera with CDC light traps in two areas of Sardinia with contrasting incidence rates of classic KS. In total, 11,030 specimens (99.9% sandflies and 0.1% mosquitoes) belonging to 10 species were collected from 40 rural sites. Five of these species are considered to be possible promoter arthropods because of the irritation their bites cause: Phlebotomus perniciosus Newstead; Phlebotomus perfiliewi Parrot (Diptera: Psychodidae); Aedes berlandi Seguy; Culiseta annulata (Schrank) and Culex theileri Theobald (Diptera: Culicidae). Five species are probable 'non-promoters' because their bites are not particularly irritating: Culiseta longiareolata (Macquart); Culex pipiens s.l.; Anopheles algeriensis Theobald; Anopheles maculipennis s.l., and Anopheles plumbeus Stephens. A significant correlation was found between the geographical distribution of promoter arthropods and incidence rates of KS (Spearman's r = 0.59,P < 0.01). Promoter arthropods were more likely to be caught in areas with cutaneous leishmaniasis and a past high prevalence of malaria, and in areas of limestone, acid volcanic soil and cereal cultivation. The study supports the association between promoter arthropods and classic KS, which may explain the geographic variability of KS and HHV-8/KSHV, and highlights the links with a number of variables previously associated with the incidence of KS.


Asunto(s)
Culicidae/fisiología , Dípteros/fisiología , Herpesvirus Humano 8/aislamiento & purificación , Psychodidae/virología , Sarcoma de Kaposi/epidemiología , Altitud , Animales , Mordeduras y Picaduras/virología , Culicidae/virología , Dípteros/virología , Ecosistema , Herpesvirus Humano 8/patogenicidad , Vivienda para Animales , Humanos , Incidencia , Italia/epidemiología , Larva/fisiología , Sarcoma de Kaposi/virología , Suelo/parasitología
7.
Br J Cancer ; 100(5): 840-7, 2009 Mar 10.
Artículo en Inglés | MEDLINE | ID: mdl-19223894

RESUMEN

A record-linkage study was carried out between the Italian AIDS Registry and 24 Italian cancer registries to compare cancer excess among persons with HIV/AIDS (PWHA) before and after the introduction of highly active antiretroviral therapy (HAART) in 1996. Standardised incidence ratios (SIR) were computed in 21951 AIDS cases aged 16-69 years reported between 1986 and 2005. Of 101 669 person-years available, 45 026 were after 1996. SIR for Kaposi sarcoma (KS) and non-Hodgkin lymphoma greatly decreased in 1997-2004 compared with 1986-1996, but high SIRs for KS persisted in the increasingly large fraction of PWHA who had an interval of <1 year between first HIV-positive test and AIDS diagnosis. A significant excess of liver cancer (SIR=6.4) emerged in 1997-2004, whereas the SIRs for cancer of the cervix (41.5), anus (44.0), lung (4.1), brain (3.2), skin (non-melanoma, 1.8), Hodgkin lymphoma (20.7), myeloma (3.9), and non-AIDS-defining cancers (2.2) were similarly elevated in the two periods. The excess of some potentially preventable cancers in PWHA suggests that HAART use must be accompanied by cancer-prevention strategies, notably antismoking and cervical cancer screening programmes. Improvements in the timely identification of HIV-positive individuals are also a priority in Italy to avoid the adverse consequences of delayed HAART use.


Asunto(s)
Síndrome de Inmunodeficiencia Adquirida/tratamiento farmacológico , Síndrome de Inmunodeficiencia Adquirida/epidemiología , Terapia Antirretroviral Altamente Activa , Neoplasias/epidemiología , Neoplasias/etiología , Síndrome de Inmunodeficiencia Adquirida/complicaciones , Adolescente , Adulto , Anciano , Femenino , VIH-1 , Humanos , Incidencia , Italia/epidemiología , Masculino , Persona de Mediana Edad , Sistema de Registros , Factores de Riesgo , Adulto Joven
8.
Br J Dermatol ; 158(2): 243-50, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18028495

RESUMEN

BACKGROUND: The chromosome 9p21 and its CDKN locus, with the p16 tumour suppressor gene (CDKN2A), are recognized as the genomic regions involved in the pathogenesis of melanoma. OBJECTIVES: To elucidate further the role of such regions during the different phases of melanocytic tumorigenesis. METHODS: Tissue sections from naevi, primary and metastatic melanomas were investigated by fluorescence in situ hybridization for allelic loss at the 9p21 chromosome and by immunochemistry for p16CDKN2A expression. RESULTS: Dysplastic naevi and primary or secondary melanomas were found to carry hemizygous deletions within the entire 9p21 region at similar frequencies (varying from 55% to 62%). Allelic deletion spanning the CDKN locus was observed at significantly increased rates moving from early (7%) to advanced (28%) primary melanomas and to secondary melanoma lesions (37%) (P=0.018). Also, inactivation of the p16 gene (CDKN2A) was absent in naevi and present at steadily increasing rates moving from primary melanomas (7% early lesions to 17% advanced lesions) to melanoma metastases (62%) (P=0.004). CONCLUSIONS: Our findings indicate that, in a model of sequential accumulation of genetic alterations, 9p21 deletions may play a role in melanocytic transformation and tumour initiation whereas rearrangements at the CDKN locus, and p16 gene (CDKN2A) inactivation may contribute to tumour progression.


Asunto(s)
Cromosomas Humanos Par 9/genética , Genes p16 , Melanoma/genética , Nevo Pigmentado/genética , Neoplasias Cutáneas/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Hibridación Fluorescente in Situ , Italia , Pérdida de Heterocigocidad , Masculino , Persona de Mediana Edad
9.
J Agric Food Chem ; 55(5): 2043-8, 2007 Mar 07.
Artículo en Inglés | MEDLINE | ID: mdl-17279767

RESUMEN

The interaction of ochratoxin A (OTA) and 20 yeast strains of Saccharomyces cerevisiae and Kloeckera apiculata during alcoholic fermentation was studied. Levels of OTA were determined in the fermentation liquid and in the yeast cells solid using a high-performance liquid chromatography system with a fluorescence detector. Yeast cells do not adsorb OTA, and for all yeasts, OTA levels did not affect the alcoholic fermentation. Some yeast strains reduced levels of OTA, whereas other strains did not show any effect demonstrating that OTA level reduction is not a genus species characteristic but a strain trait.


Asunto(s)
Ascomicetos/metabolismo , Carcinógenos/análisis , Ocratoxinas/análisis , Saccharomyces cerevisiae/metabolismo , Absorción , Ascomicetos/química , Fermentación , Saccharomyces cerevisiae/química , Vino/microbiología
10.
Monaldi Arch Chest Dis ; 67(4): 179-83, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18309697

RESUMEN

BACKGROUND: Up to 30-50% of all lung cancer cases remain without cyto-histological characterisation. The aim of our study was to evaluate retrospectively the proportion of histological and/or cytological diagnosis in patients with lung cancer in Sardinia. METHODS: Data was gathered by consulting the hospital registers and case notes of individual patients released from hospital with a diagnosis of Lung Cancer at all medical centres throughout Sardinia. In gathering patients' data, we focused our attention on cytological and histological procedures through which allowed the lung cancer was diagnosed. Cancer Registries data was utilised to compare our data with national and Sassari province data. RESULTS: From 1991 to 1996 there was a total of 3146 lung cancer patients registered in Sardinia. 1902 patients (60.5%) had a histological diagnosis, 142 patients (4.5%) a cytological diagnosis while in 1102 patients (35%) the diagnosis was performed without any pathological validation. CONCLUSIONS: Our study has shown that lung cancer diagnosis is supported by pathological verification in 65% of cases while in remaining 35% of patients the diagnosis is based only on clinical and radiological reports. In Italy data from Cancer Registries report the percentage of cytohistological diagnosis to be 70% with the percentage of cytological diagnosis being higher than in Sardinia.


Asunto(s)
Neoplasias Pulmonares/epidemiología , Neoplasias Pulmonares/patología , Anciano , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Distribución por Sexo
11.
Eur J Gynaecol Oncol ; 26(5): 505-8, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-16285566

RESUMEN

The aim of this study was to evaluate the incidence of malignant breast tumors in the Province of Sassari, Sardinia (Italy) in the period 1992-2002 and to report the variations in comparison to the 1974-1985 period. The analysis of our data showed that the overall number of malignant breast tumors was more than doubled from 1,139 cases in the period 1974-1985 to the 2,735 cases in the period 1992-2002, and the mean rate/100,000 changed from 43.4 to 106.0. The incidence in the age classes 45-64 years, which were at enhanced risk for breast cancer, was globally increased, changing from 143.6/100,000 to 198.7/100,000. On the other hand, the incidence in the youngest age classes (30-34 yrs) was reduced from 59.5% to 27.0%. The analysis of the histotypes showed a relative reduction of ductal carcinoma in the period 1992-2002 in comparison to the previous period 1974-1985 (65.2% vs 82.0%) whereas the incidence of anaplastic forms increased in advanced ages of life. We reported an important reduction of T0 tumors from 3.4% to 0.1%. These data could be due to the low diffusion of screening programs in Sardinia. Tumor metastases were more frequent in advanced age classes. In conclusion, the worrying data of the strong reduction of T0 cases, the increased age of first diagnosis and the advanced forms with positive nodal metastases showed that the prevention program has not been yet well organized.


Asunto(s)
Neoplasias de la Mama/epidemiología , Adulto , Distribución por Edad , Factores de Edad , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/etiología , Neoplasias de la Mama/patología , Carcinoma Ductal de Mama/epidemiología , Carcinoma Ductal de Mama/etiología , Carcinoma Ductal de Mama/patología , Carcinoma Intraductal no Infiltrante/epidemiología , Carcinoma Intraductal no Infiltrante/etiología , Carcinoma Intraductal no Infiltrante/patología , Carcinoma Lobular/epidemiología , Carcinoma Lobular/etiología , Carcinoma Lobular/patología , Femenino , Humanos , Incidencia , Italia/epidemiología , Persona de Mediana Edad , Estadificación de Neoplasias
12.
Eur J Gynaecol Oncol ; 26(1): 47-50, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-15755000

RESUMEN

Malignant ovarian tumors have been continuously increasing in Western countries and represent the leading cause of death for gynecological cancer. In fact, the mortality for malignant ovarian tumors remains very high with a low percentage of 5-year survival in the advanced stage of disease. The aim of this study was to evaluate the incidence trend and epidemiological characteristics of malignant ovarian tumors in the Province of Sassari, Sardinia (Italy) in the period 1992-2001 and to report the variations in comparison to the 1974-1985 period. The analysis of our data regarding the period 1992-2001, if compared with those of the period 1974-85, showed an increase of malignant ovarian tumors which triplicated achieving an incidence of 11.99/100,000 vs 4.27/100,000. The analysis of our epidemiologic data showed an increase of the age of first diagnosis (mean 60.9 years for epithelial ovarian tumors), the occurrence of the cancer in women at low socio-economic levels and a family history of cancer among the patients with malignant ovarian tumors. These data suggest that both local environmental factors combined with genetic characteristics play a role in the pathogenesis of ovarian tumors. The genetic characteristics could be of particular interest because Sardinia has been through the centuries a geographical area with little population migration. The marked increase in the incidence of ovarian tumors in the last several years points out the need to organize systematic screening by ultrasonography in our population.


Asunto(s)
Neoplasias Ováricas/epidemiología , Adenocarcinoma Mucinoso/epidemiología , Adenocarcinoma Mucinoso/etiología , Adenocarcinoma Mucinoso/mortalidad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma Endometrioide/epidemiología , Carcinoma Endometrioide/etiología , Carcinoma Endometrioide/mortalidad , Cistadenocarcinoma Seroso/epidemiología , Cistadenocarcinoma Seroso/etiología , Cistadenocarcinoma Seroso/mortalidad , Femenino , Humanos , Incidencia , Italia/epidemiología , Persona de Mediana Edad , Neoplasias Ováricas/etiología , Neoplasias Ováricas/mortalidad , Factores de Riesgo , Análisis de Supervivencia
13.
Br J Cancer ; 92(1): 188-93, 2005 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-15570306

RESUMEN

To evaluate incidence rates (IRs) of classic Kaposi's sarcoma (CKS) in Italy after the spread of AIDS, we distinguished CKS from AIDS-related KS (AKS) using an 'ad hoc' record linkage procedure between 15 Cancer Registries (CRs) (21% of the Italian population) and the national AIDS Registry. Between 1985 and 1998, 874 cases of CKS and 634 cases of AKS were diagnosed in the study areas. CKS accounted for 16 and 27% of KS cases below 55 years of age in men and women, respectively, but for 91 and 100% of those above age 55. The IRs for CKS were 1.0/ in men and 0.4/100,000 in women, but they varied between 0.3 in Umbria and 4.7 in Sassari in men, and between 0.1 in Parma and 1.7 in Sassari in women. IRs of CKS in both genders were stable between 1985-1987 and 1993-1998. In Northern and Central CRs the IR (adjusted for age and gender) for CKS was 0.5 in individuals born in the same area, but 1.6 in individuals born in Southern Italy or in the Islands (rate ratio = 3.2) suggesting that KS-associated herpesvirus, the cause of KS, is acquired early in life.


Asunto(s)
Sarcoma de Kaposi/epidemiología , Síndrome de Inmunodeficiencia Adquirida/epidemiología , Adolescente , Adulto , Distribución por Edad , Anciano , Humanos , Incidencia , Italia/epidemiología , Masculino , Persona de Mediana Edad , Vigilancia de la Población , Distribución por Sexo , Neoplasias Cutáneas/epidemiología , Factores de Tiempo
14.
Eur J Gynaecol Oncol ; 25(1): 96-8, 2004.
Artículo en Inglés | MEDLINE | ID: mdl-15053072

RESUMEN

The incidence of gynecologic tumors in the Province of Sassari in the period 1992-2000 has been studied in order to estimate their value and to make a comparison with the data of the period 1974-83. The analysis of our data regarding the period 1992-2000, if compared with those of the previous period 1974-83, showed a change in the percentage distribution of all gynecologic tumors, with an increase in the incidence of malignant tumors of the ovary (from 17.1% to 28.0%) and a reduction in the incidence of endometrial carcinoma (from 52.1% to 45.0%). Cervix cancer seemed stationary with a mild reduction (from 26.8% to 23.0%). The data showed, with regard to the incidence per 100,000, an increase of endometrial carcinoma (19.05 per 100,000 vs 11.99 per 100,000) and malignant ovarian tumor (11.99 per 100,000 vs 3.95 per 100,000). Our data reported a worrying increase of hormonal-dependent tumors in North Sardinia such as endometrial and ovarian cancer with the highest increase in malignant ovarian tumors. In comparison to the previous period we confirmed a historically low incidence of cervical and external genitalia tumors (vulva and vagina) in North Sardinia.


Asunto(s)
Neoplasias de los Genitales Femeninos/epidemiología , Neoplasias de los Genitales Femeninos/etiología , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Incidencia , Italia/epidemiología , Persona de Mediana Edad , Neoplasias Hormono-Dependientes/epidemiología , Neoplasias Hormono-Dependientes/etiología , Factores de Riesgo
15.
Epidemiol Prev ; 25(3 Suppl): 9-14, 2001.
Artículo en Inglés, Italiano | MEDLINE | ID: mdl-11695205

RESUMEN

Early diagnosis of neoplastic diseases enjoined large popularity in the last two decades. In many countries or European regions, population-based cancer screening programs for breast, cervical and colorectal cancer are going on. Diagnostic tests, like the PSA test for prostate cancer, are not yet validated in terms of their efficacy in reducing specific mortality, but their spontaneous diffusion is changing the pattern of the disease incidence. In this contribution, we discuss briefly the survival trends for some tumours (breast, cervix, colorectal, melanoma and prostate cancer) for which the occurrence rates are modified by screening and for some of them we evaluate the possible impact of early diagnosis on survival rates.


Asunto(s)
Neoplasias/mortalidad , Sistema de Registros , Anciano , Femenino , Humanos , Italia/epidemiología , Masculino , Tamizaje Masivo , Persona de Mediana Edad , Tasa de Supervivencia , Factores de Tiempo
16.
Br J Cancer ; 82(3): 553-9, 2000 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-10682665

RESUMEN

Sardinian population can be instrumental in defining the molecular basis of cancer, using the identity-by-descent method. We selected seven Sardinian breast cancer families originating from the northern-central part of the island with multiple affected members in different generations. We genotyped 106 members of the seven families and 20 control nuclear families with markers flanking BRCA2 locus at 13q12-q13. The detection of a common haplotype shared by four out of seven families (60%) suggests the presence of a founder BRCA2 mutation. Direct sequencing of BRCA2 coding exons of patients carrying the shared haplotype, allowed the identification of a 'frame-shift' mutation at codon 2867 (8765delAG), causing a premature termination-codon. This mutation was found in breast cancer patients as well as one prostate and one bladder cancer patient with shared haplotype. We then investigated the frequency of 8765delAG in the Sardinian breast cancer population by analysing 270 paraffin-embedded normal tissue samples from breast cancer patients. Five patients (1.7%) were found to be positive for the 8765delAG mutation. Discovery of a founder mutation in Sardinia through the identity-by-descent method demonstrates that this approach can be applied successfully to find mutations either for breast cancer or for other types of tumours.


Asunto(s)
Neoplasias de la Mama/genética , Efecto Fundador , Mutación , Proteínas de Neoplasias/genética , Factores de Transcripción/genética , Proteína BRCA2 , Secuencia de Bases , Cartilla de ADN , Femenino , Humanos , Masculino , Linaje
17.
Br J Cancer ; 76(11): 1518-20, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-9400951

RESUMEN

A case-control study was performed to determine the role of rural factors including occupation and previous malaria exposure in the development of classic Kaposi's sarcoma (CKS) in a high incidence area of Europe. The occurrence of CKS association with other malignancies was also examined. The results showed that the risk of having CKS was significantly increased in subjects farming cereals, while a previous history of malaria did not influence the risk of developing CKS. A near-significant increase in associated tumours was found.


Asunto(s)
Malaria/complicaciones , Exposición Profesional , Sarcoma de Kaposi/etiología , Anciano , Anciano de 80 o más Años , Enfermedades de los Trabajadores Agrícolas , Estudios de Casos y Controles , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Factores de Riesgo , Población Rural , Sarcoma de Kaposi/epidemiología
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