Epidemiological situation of breast cancer in spain.

Title and summary, also in English.El cáncer de mama es el tumor más frecuente en Europa. Según la Agencia Internacional de Investigación del Cáncer, en 2006 se diagnosticaron unos 429.900 casos nuevos de cáncer de mama en Europa, con una tasa estandarizada de incidencia de 110 casos por 100.000 mujeres. También es la localización más frecuente en mujeres españolas: supone casi la cuarta parte de los casos de cáncer femeninos, y su incidencia está aumentando entre un 2-3% anual. Entre las posibles causas de este incremento están los cambios en los patrones reproductivos y en los hábitos de vida y la introducción de la terapia hormonal sustitutiva. Nuestro país, con una tasa de incidencia estandarizada estimada de 93,6 casos por 100.000 mujeres-año para 2006, ocupa una posición intermedia entre los países de Europa occidental y los del este. Es también una importante causa de mortalidad femenina. En 2005 causó la muerte de 5.703 mujeres españolas, con una tasa de mortalidad estandarizada de 18,6 por 100.000 mujeres-año. Desde los años 90 la mortalidad por cáncer de mama está descendiendo debido al diagnóstico precoz por programas de cribado y a los avances terapéuticos. En España esta tendencia decreciente se observa a partir de 1993, con un descenso de un 2,4% anual.La supervivencia global en Europa a los 5 años es cercana al 79%, inferior a la observada en EEUU (90%), y ha aumentado en los últimos años. En España, se sitúa en un 83%, significativamente más alta que la media europea. Breast cancer is the most frequent neoplasm in Europe. According to the International Agency for Research on Cancer, there were an estimated 429,900 cases diagnosed in Europe in 2006, with an age-standardised incidence rate of 110 cases per 100,000 women.It is also the most frequent cancer in Spanish women, accounting for one forth of female cancer cases, and its incidence is increasing around 2-3% per year. Changes in reproductive behaviour and life style along with the introduction of hormone replacement therapy are partially responsible of this trend. Our country, with an estimated age-standardised incidence rate of 93.6 cases per 100,000 women-year in 2006, occupies an intermediate position between Western and Eastern European countries.This tumour also represents an important cause of female mortality. In 2005, it caused 5,703 deaths in Spanish women, with an age-standardised mortality rate of 18.6 per 100,000 women-year. However, since the 90’s, breast cancer mortality is declining thanks to earlier diagnosis derived from population screening programs and to therapeutical advances. In Spain this downward trend has started in 1993, declining a 2.4% per year.In Europe, 5-year global survival is close to 79%, lower than EEUU survival estimates (90%). Breast cancer survival has risen in recent years. In Spain, 5-year survival is around 83%, significantly higher than European average.S

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

Epidemiología

El presente volumen incluye diversos temas de epidemiología básica e intermedia elaborados por los profesores del Máster de Salud Pública de la Escuela Nacional de Sanidad, con la orientación fundamental de servir de material docente para los cursos de epidemiología. Partiendo de la definición de epidemiología y de la descripción de sus usos potenciales, se describen los conceptos básicos de este método científico, los principales diseños de estudios, los métodos básicos de 3 análisis de datos, las técnicas de control de sesgos y factores de confusión, las bases de la inferencia causal y los aspectos fundamentales de la epidemiología clínica.N

Validation of self-reported perception of proximity to industrial facilities: MCC-Spain study

Background: Self-reported data about environmental exposures can lead to measurement error. Objectives: To validate the self-reported perception of proximity to industrial facilities. Methods: MCC-Spain is a population-based multicase-control study of cancer in Spain that recruited incident cases of breast, colorectal, prostate, and stomach cancer. The participant's current residence and the location of the industries were geocoded, and the linear distance between them was calculated (gold standard). The epidemiological questionnaire included a question to determine whether the participants perceived the presence of any industry at ≤1 km from their residences. Sensitivity and specificity of individuals' perception of proximity to industries were estimated as measures of classification accuracy, and the area under the curve (AUC) and adjusted odds ratios (aORs) of misclassification were calculated as measures of discrimination. Analyses were performed for all cases and controls, and by tumor location, educational level, sex, industrial sector, and length of residence. Finally, aORs of cancer associated with real and self-reported distances were calculated to explore differences in the estimation of risk between these measures. Results: Sensitivity of the questionnaire was limited (0.48) whereas specificity was excellent (0.89). AUC was sufficient (0.68). Participants with breast (aOR(95%CI) = 2.03 (1.67;2.46)), colorectal (aOR(95%CI) = 1.41 (1.20;1.64)) and stomach (aOR(95%CI) = 1.59 (1.20;2.10)) cancer showed higher risk of misclassification than controls. This risk was higher for lower educational levels (aOR15 years (95%CI) = 0.56 (0.36;0.85)). The use of self-reported proximity vs. real distance to industrial facilities biased the effect on cancer risk towards the nullity. Conclusions: Self-reported distance to industrial facilities can be a useful tool for hypothesis generation, but hypothesis-testing studies should use real distance to report valid conclusions. The sensitivity of the question might be improved with a more specific formulation

Family History and Gastric Cancer Risk: A Pooled Investigation in the Stomach Cancer Pooling (STOP) Project Consortium

Simple Summary Research is still required to establish the relationship between family history (FH) and gastric cancer (GC) in relation to different histological types and anatomical sites. The present work aimed to examine the influence of first-degree FH on the risk of GC, also according to the GC location and histological type, including 5946 cases and 12,776 controls from 17 studies of 11 countries in three continents participating in the Stomach Cancer Pooling (StoP) Project consortium. This analysis confirms the effect of FH on the risk of GC, reporting an approximately doubled risk, and provides further quantification of the risk of GC according to the subsite and histotype. Although there is a clear relationship between family history (FH) and the risk of gastric cancer (GC), quantification is still needed in relation to different histological types and anatomical sites, and in strata of covariates. The objective was to analyze the risk of GC according to first-degree FH in a uniquely large epidemiological consortium of GC. This investigation includes 5946 cases and 12,776 controls from 17 studies of the Stomach Cancer Pooling (StoP) Project consortium. Summary odds ratios (OR) and the corresponding 95% confidence intervals (CIs) were calculated by pooling study-specific ORs using fixed-effect model meta-analysis techniques. Stratified analyses were carried out by sex, age, tumor location and histological type, smoking habit, socioeconomic status, alcohol intake and fruit consumption. The pooled OR for GC was 1.84 (95% CI: 1.64-2.04; I2 = 6.1%, P heterogeneity = 0.383) in subjects with vs. those without first-degree relatives with GC. No significant differences were observed among subgroups of sex, age, geographic area or study period. Associations tended to be stronger for non-cardia (OR = 1.82; 95% CI: 1.59-2.05 for subjects with FH) than for cardia GC (OR = 1.38; 95% CI: 0.98-1.77), and for the intestinal (OR = 1.92; 95% CI: 1.62-2.23) than for the diffuse histotype (OR = 1.62; 95% CI: 1.28-1.96). This analysis confirms the effect of FH on the risk of GC, reporting an approximately doubled risk, and provides further quantification of the risk of GC according to the subsite and histotype. Considering these findings, accounting for the presence of FH to carry out correct prevention and diagnosis measures is of the utmost importance

Coffee consumption and gastric cancer: a pooled analysis from the Stomach cancer Pooling Project consortium

Objective This study aimed to evaluate and quantify the relationship between coffee and gastric cancer using a uniquely large dataset from an international consortium of observational studies on gastric cancer, including data from 18 studies, for a total of 8198 cases and 21 419 controls. Methods A two-stage approach was used to obtain the pooled odds ratios (ORs) and the corresponding 95% confidence intervals (CIs) for coffee drinkers versus never or rare drinkers. A one-stage logistic mixed-effects model with a random intercept for each study was used to estimate the dose-response relationship. Estimates were adjusted for sex, age and the main recognized risk factors for gastric cancer. Results Compared to never or rare coffee drinkers, the estimated pooled OR for coffee drinkers was 1.03 (95% CI, 0.94-1.13). When the amount of coffee intake was considered, the pooled ORs were 0.91 (95% CI, 0.81-1.03) for drinkers of 1-2 cups per day, 0.95 (95% CI, 0.82-1.10) for 3-4 cups, and 0.95 (95% CI, 0.79-1.15) for five or more cups. An OR of 1.20 (95% CI, 0.91-1.58) was found for heavy coffee drinkers (seven or more cups of caffeinated coffee per day). A positive association emerged for high coffee intake (five or more cups per day) for gastric cardia cancer only. Conclusions These findings better quantify the previously available evidence of the absence of a relevant association between coffee consumption and gastric cancer