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Search Results: 1 - 10 of 12782 matches for " Montserrat Garcia-Closas "
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Modelling the overdiagnosis of breast cancer due to mammography screening in women aged 40 to 49 in the United Kingdom
Necdet B Gunsoy, Montserrat Garcia-Closas, Sue M Moss
Breast Cancer Research , 2012, DOI: 10.1186/bcr3365
Abstract: We estimated the overdiagnosis of breast cancer due to screening in women aged 40 to 49 years using data from a randomised trial of annual mammographic screening starting at age 40 conducted in the UK. A six-state Markov model was constructed to estimate the sensitivity of mammography for invasive and in situ breast cancer and the screen-detectable mean sojourn time for non-progressive in situ, progressive in situ, and invasive breast cancer. Then, a 10-state simulation model of cancer progression, screening, and death, was developed to estimate overdiagnosis attributable to screening.The sensitivity of mammography for invasive and in situ breast cancers was 90% (95% CI, 72 to 99) and 82% (43 to 99), respectively. The screen-detectable mean sojourn time of preclinical non-progressive and progressive in situ cancers was 1.3 (0.4 to 3.4) and 0.11 (0.05 to 0.19) years, respectively, and 0.8 years (0.6 to 1.2) for preclinical invasive breast cancer. The proportion of screen-detected in situ cancers that were non-progressive was 55% (25 to 77) for the first and 40% (22 to 60) for subsequent screens. In our main analysis, overdiagnosis was estimated as 0.7% of screen-detected cancers. A sensitivity analysis, covering a wide range of alternative scenarios, yielded a range of 0.5% to 2.9%.Although a high proportion of screen-detected in situ cancers were non-progressive, a majority of these would have presented clinically in the absence of screening. The extent of overdiagnosis due to screening in women aged 40 to 49 was small. Results also suggest annual screening is most suitable for women aged 40 to 49 in the United Kingdom due to short cancer sojourn times.Since the introduction of mammography screening in many countries, a substantial increase in the incidence of breast cancers has been observed, raising concern about the potential for overdiagnosis of breast cancer due to screening. However, no consensus has been reached on the extent of such overdiagnosis. An overdia
Intrauterine environments and breast cancer risk: meta-analysis and systematic review
Sue Park, Daehee Kang, Katherine A McGlynn, Montserrat Garcia-Closas, Yeonju Kim, Keun Yoo, Louise A Brinton
Breast Cancer Research , 2008, DOI: 10.1186/bcr1850
Abstract: We reviewed breast cancer studies published from January 1966 to February 2007 that included data on birth weight, birth order, maternal age, gestational age, twin status, and maternal or paternal smoking. Meta-analyses using random effect models were employed to summarize the results.We found that heavier birth weights were associated with increased breast cancer risk, with studies involving five categories of birth weight identifying odds ratios (ORs) of 1.24 (95% confidence interval [CI] 1.04 to 1.48) for 4,000 g or more and 1.15 (95% CI 1.04 to 1.26) for 3,500 g to 3,999 g, relative to a birth weight of 2,500 to 2,599 g. These studies provided no support for a J-shaped relationship of birthweight to risk. Support for an association with birthweight was also derived from studies based on three birth weight categories (OR 1.15 [95% CI 1.01 to 1.31] for ≥4,000 g relative to <3,000 g) and two birth weight categories (OR 1.09 [95% CI 1.02 to 1.18] for ≥3,000 g relative to <3,000 g). Women born to older mothers and twins were also at some increased risk, but the results were heterogeneous across studies and publication years. Birth order, prematurity, and maternal smoking were unrelated to breast cancer risk.Our findings provide some support for the hypothesis that in utero exposures reflective of higher endogenous hormone levels could affect risk for development of breast cancer in adulthood.Intrauterine environmental exposures to endogenous or exogenous hormones, notably estrogens, may influence the subsequent development of breast cancer in offspring [1]. During pregnancy, levels of circulating estrogens and other hormones with growth-enhancing properties are at least 10 times higher than those in nonpregnant women, with increases seen with advancing gestational age [2-4]. The hypothesis that breast cancer in daughters may be influenced by the intrauterine environment is receiving increased attention [5]. Perinatal factors, including birth weight, birth order, mate
Detection of Somatic Mutations by High-Resolution DNA Melting (HRM) Analysis in Multiple Cancers
Jesus Gonzalez-Bosquet,Jacob Calcei,Jun S. Wei,Montserrat Garcia-Closas,Mark E. Sherman,Stephen Hewitt,Joseph Vockley,Jolanta Lissowska,Hannah P. Yang,Javed Khan,Stephen Chanock
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0014522
Abstract: Identification of somatic mutations in cancer is a major goal for understanding and monitoring the events related to cancer initiation and progression. High resolution melting (HRM) curve analysis represents a fast, post-PCR high-throughput method for scanning somatic sequence alterations in target genes. The aim of this study was to assess the sensitivity and specificity of HRM analysis for tumor mutation screening in a range of tumor samples, which included 216 frozen pediatric small rounded blue-cell tumors as well as 180 paraffin-embedded tumors from breast, endometrial and ovarian cancers (60 of each). HRM analysis was performed in exons of the following candidate genes known to harbor established commonly observed mutations: PIK3CA, ERBB2, KRAS, TP53, EGFR, BRAF, GATA3, and FGFR3. Bi-directional sequencing analysis was used to determine the accuracy of the HRM analysis. For the 39 mutations observed in frozen samples, the sensitivity and specificity of HRM analysis were 97% and 87%, respectively. There were 67 mutation/variants in the paraffin-embedded samples, and the sensitivity and specificity for the HRM analysis were 88% and 80%, respectively. Paraffin-embedded samples require higher quantity of purified DNA for high performance. In summary, HRM analysis is a promising moderate-throughput screening test for mutations among known candidate genomic regions. Although the overall accuracy appears to be better in frozen specimens, somatic alterations were detected in DNA extracted from paraffin-embedded samples.
Analysis of terminal duct lobular unit involution in luminal A and basal breast cancers
Xiaohong R Yang, Jonine D Figueroa, Roni T Falk, Hong Zhang, Ruth M Pfeiffer, Stephen M Hewitt, Jolanta Lissowska, Beata Peplonska, Louise Brinton, Montserrat Garcia-Closas, Mark E Sherman
Breast Cancer Research , 2012, DOI: 10.1186/bcr3170
Abstract: Cases were participants in a population-based case-control study conducted in Poland. Increased TDLU involution was defined as fewer acini per TDLU or shorter TDLU diameter. Luminal A was defined as estrogen receptor (ER) positive and/or progesterone receptor (PR) positive and human epidermal growth factor receptor 2 (HER2) negative and CBP as negative for ER, PR, and HER2 with expression of basal cytokeratins or epidermal growth factor receptor (EGFR). We performed logistic regression to evaluate associations between TDLU involution and tumor subtypes, adjusted for clinical characteristics and breast cancer risk factors.Among 232 luminal A and 49 CBP cancers associated with evaluable TDLUs, CBP tumors were associated with significantly greater average number of acini per TDLU (odds ratio (OR) = 3.36, 95% confidence interval (CI) = 1.36 to 8.32, P = 0.009) and larger average TDLU diameter (OR = 2.49, 95% CI = 1.08 to 5.74, P = 0.03; comparing highest to lowest group, adjusted for age and study site).We suggest that TDLU involution is less marked in benign tissues surrounding CBP as compared to luminal A cancers, which may reflect differences in the etiology and pathogenesis of these tumor subtypes.Epidemiologic research has demonstrated that risk factor associations for breast cancer vary by estrogen receptor (ER) status [1-3]. Recent studies that have included more detailed characterization of tumor markers suggest that differences in risk factor associations between luminal A cancers (ER and/or progesterone receptor (PR) positive and human epidermal growth factor receptor 2 (HER2) negative) and core basal phenotype (CBP) cancers ("triple negative" for ER, PR and HER2 with expression of basal cytokeratins or epidermal growth factor receptor (EGFR)) account for much of this etiological heterogeneity. In a pooled analysis of 12 population-based studies included in the Breast Cancer Association Consortium, risk for luminal A cancers was inversely associated with havin
Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study
Montserrat Garcia-Closas, Louise A Brinton, Jolanta Lissowska, Douglas Richesson, Mark E Sherman, Neonila Szeszenia-Dabrowska, Beata Peplonska, Robert Welch, Meredith Yeager, Witold Zatonski, Stephen J Chanock
BMC Cancer , 2007, DOI: 10.1186/1471-2407-7-60
Abstract: The study population included 264 women with ovarian carcinoma and 625 controls participating in a population-based case-control study in Poland. Five common single nucleotide polymorphisms (SNPs) in SHGB and five in ATP1B2 were selected to capture most common variation in this region.None of the SNPs evaluated was significantly associated with ovarian cancer risk, including the putative functional SNPs SHBG D356N (rs6259) and -67G>A 5'UTR (rs1799941). However, our data were consistent with a decreased ovarian cancer risk associated with the variant alleles for these two SNPs, which have been previously associated with increased circulating levels of SHBG.These data do not support a substantial association between common genetic variation in SHBG and ovarian cancer risk.Hormonal stimulation of ovarian epithelial cells has been proposed as a mechanism for carcinogenesis of the ovaries [1]. The evidence for sex steroid hormones playing a role in ovarian cancer is primarily indirect, based on animal and in vitro studies, as well epidemiological observations [1], while the relationship between circulating levels of sex steroids and ovarian cancer risk has not been clearly demonstrated [2,3].The sex steroid hormone-binding globulin (SHBG) gene regulates the action of sex steroid hormones by modulating their bioavailability to target tissues such as the ovaries [4]. The SHBG gene is located on the short arm of chromosome 17. A non-synonymous SNP in exon 8 results in an amino acid substitution of asparagine for aspartic acid (D356N, rs6259) in the SHBG protein, and the asparagine (N) allele of SHBG has been associated with elevated circulating levels of SHBG in post-menopausal women [5-7]. An additional SNP in the 5' untranslated region (UTR) of SHBG has also been associated with elevated SHBG levels [6]. These data suggest that common variation in SHBG has functional relevance and thus, could affect the risk of hormonally-related cancers.We performed a detailed assessment
Genetic variation in PRL and PRLR, and relationships with serum prolactin levels and breast cancer risk: results from a population-based case-control study in Poland
Sarah J Nyante, Jessica M Faupel-Badger, Mark E Sherman, Ruth M Pfeiffer, Mia M Gaudet, Roni T Falk, Abegail A Andaya, Jolanta Lissowska, Louise A Brinton, Beata Peplonska, Barbara K Vonderhaar, Stephen Chanock, Montserrat Garcia-Closas, Jonine D Figueroa
Breast Cancer Research , 2011, DOI: 10.1186/bcr2864
Abstract: We genotyped 8 PRL and 20 PRLR tag SNPs in 1965 breast cancer cases and 2229 matched controls, aged 20-74, and living in Warsaw or ?ód?, Poland. Serum prolactin levels were measured by immunoassay in a subset of 773 controls. Odds ratios (ORs) and 95% confidence intervals (CIs) for genotype associations with breast cancer risk were estimated using unconditional logistic regression, adjusted for age and study site. Geometric mean prolactin levels were estimated using linear regression models adjusted for age, study site, blood collection time, and menstrual cycle day (premenopausal women).Three SNPs were associated with breast cancer risk: in premenopausal women, PRLR rs249537 (T vs. C per-allele OR 1.39, 95% CI 1.07 - 1.80, P = 0.01); and in postmenopausal women, PRLR rs7718468 (C vs. T per-allele OR 1.16, 95% CI 1.03 - 1.30, P = 0.01) and PRLR rs13436213 (A vs. G per-allele OR 1.13 95% CI 1.01 - 1.26, P = 0.04). However, mean serum prolactin levels for these SNPs did not vary by genotype (P-trend > 0.05). Other SNPs were associated with serum prolactin levels: PRLR rs62355518 (P-trend = 0.01), PRLR rs10941235 (P-trend = 0.01), PRLR rs1610218 (P-trend = 0.01), PRLR rs34024951 (P-trend = 0.02), and PRLR rs9292575 (P-trend = 0.03) in premenopausal controls and PRL rs849872 (P-trend = 0.01) in postmenopausal controls.Our data provide limited support for an association between common variations in PRLR and breast cancer risk. Altered serum prolactin levels were not associated with breast cancer risk-associated variants, suggesting that common genetic variation is not a strong predictor of prolactin-associated breast cancer risk in this population.The reproductive hormone prolactin is produced primarily by the pituitary gland and in lesser amounts by several other tissues, including breast tissue. Prolactin plays a central role in breast development, differentiation, and lactation (reviewed in [1]), but experimental data suggest that, in addition to having a role in norm
Large-Scale Pathway-Based Analysis of Bladder Cancer Genome-Wide Association Data from Five Studies of European Background
Idan Menashe, Jonine D. Figueroa, Montserrat Garcia-Closas, Nilanjan Chatterjee, Nuria Malats, Antoni Picornell, Dennis Maeder, Qi Yang, Ludmila Prokunina-Olsson, Zhaoming Wang, Francisco X. Real, Kevin B. Jacobs, Dalsu Baris, Michael Thun, Demetrius Albanes, Mark P. Purdue, Manolis Kogevinas, Amy Hutchinson, Yi-Ping Fu, Wei Tang, Laurie Burdette, Adonina Tardón, Consol Serra, Alfredo Carrato, Reina García-Closas, Josep Lloreta, Alison Johnson, Molly Schwenn, Alan Schned, Gerald Andriole, Amanda Black, Eric J. Jacobs, Ryan W. Diver, Susan M. Gapstur, Stephanie J. Weinstein, Jarmo Virtamo, Neil E. Caporaso, Maria Teresa Landi, Joseph F. Fraumeni, Stephen J. Chanock, Debra T. Silverman, Nathaniel Rothman
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0029396
Abstract: Pathway analysis of genome-wide association studies (GWAS) offer a unique opportunity to collectively evaluate genetic variants with effects that are too small to be detected individually. We applied a pathway analysis to a bladder cancer GWAS containing data from 3,532 cases and 5,120 controls of European background (n = 5 studies). Thirteen hundred and ninety-nine pathways were drawn from five publicly available resources (Biocarta, Kegg, NCI-PID, HumanCyc, and Reactome), and we constructed 22 additional candidate pathways previously hypothesized to be related to bladder cancer. In total, 1421 pathways, 5647 genes and ~90,000 SNPs were included in our study. Logistic regression model adjusting for age, sex, study, DNA source, and smoking status was used to assess the marginal trend effect of SNPs on bladder cancer risk. Two complementary pathway-based methods (gene-set enrichment analysis [GSEA], and adapted rank-truncated product [ARTP]) were used to assess the enrichment of association signals within each pathway. Eighteen pathways were detected by either GSEA or ARTP at P≤0.01. To minimize false positives, we used the I2 statistic to identify SNPs displaying heterogeneous effects across the five studies. After removing these SNPs, seven pathways (‘Aromatic amine metabolism’ [PGSEA = 0.0100, PARTP = 0.0020], ‘NAD biosynthesis’ [PGSEA = 0.0018, PARTP = 0.0086], ‘NAD salvage’ [PARTP = 0.0068], ‘Clathrin derived vesicle budding’ [PARTP = 0.0018], ‘Lysosome vesicle biogenesis’ [PGSEA = 0.0023, PARTP<0.00012], ’Retrograde neurotrophin signaling’ [PGSEA = 0.00840], and ‘Mitotic metaphase/anaphase transition’ [PGSEA = 0.0040]) remained. These pathways seem to belong to three fundamental cellular processes (metabolic detoxification, mitosis, and clathrin-mediated vesicles). Identification of the aromatic amine metabolism pathway provides support for the ability of this approach to identify pathways with established relevance to bladder carcinogenesis.
The Obesity-Associated Polymorphisms FTO rs9939609 and MC4R rs17782313 and Endometrial Cancer Risk in Non-Hispanic White Women
Galina Lurie,Mia M. Gaudet,Amanda B. Spurdle,Michael E. Carney,Lynne R. Wilkens,Hannah P. Yang,Noel S. Weiss,Penelope M. Webb,Pamela J. Thompson,Keith Terada,Veronica Wendy Setiawan,Timothy R. Rebbeck,Jennifer Prescott,Irene Orlow,Tracy O'Mara,Sara H. Olson,Steven A. Narod,Rayna K. Matsuno,Jolanta Lissowska,Xiaolin Liang,Douglas A. Levine,Loic Le Marchand,Laurence N. Kolonel,Brian E. Henderson,Montserrat Garcia-Closas,Jennifer Anne Doherty,Immaculata De Vivo,Chu Chen,Louise A. Brinton,Mohammad R. Akbari,Marc T. Goodman
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0016756
Abstract: Overweight and obesity are strongly associated with endometrial cancer. Several independent genome-wide association studies recently identified two common polymorphisms, FTO rs9939609 and MC4R rs17782313, that are linked to increased body weight and obesity. We examined the association of FTO rs9939609 and MC4R rs17782313 with endometrial cancer risk in a pooled analysis of nine case-control studies within the Epidemiology of Endometrial Cancer Consortium (E2C2). This analysis included 3601 non-Hispanic white women with histologically-confirmed endometrial carcinoma and 5275 frequency-matched controls. Unconditional logistic regression models were used to assess the relation of FTO rs9939609 and MC4R rs17782313 genotypes to the risk of endometrial cancer. Among control women, both the FTO rs9939609 A and MC4R rs17782313 C alleles were associated with a 16% increased risk of being overweight (p = 0.001 and p = 0.004, respectively). In case-control analyses, carriers of the FTO rs9939609 AA genotype were at increased risk of endometrial carcinoma compared to women with the TT genotype [odds ratio (OR) = 1.17; 95% confidence interval (CI): 1.03–1.32, p = 0.01]. However, this association was no longer apparent after adjusting for body mass index (BMI), suggesting mediation of the gene-disease effect through body weight. The MC4R rs17782313 polymorphism was not related to endometrial cancer risk (per allele OR = 0.98; 95% CI: 0.91–1.06; p = 0.68). FTO rs9939609 is a susceptibility marker for white non-Hispanic women at higher risk of endometrial cancer. Although FTO rs9939609 alone might have limited clinical or public health significance for identifying women at high risk for endometrial cancer beyond that of excess body weight, further investigation of obesity-related genetic markers might help to identify the pathways that influence endometrial carcinogenesis.
Inherited Variants in Regulatory T Cell Genes and Outcome of Ovarian Cancer
Ellen L. Goode, Melissa DeRycke, Kimberly R. Kalli, Ann L. Oberg, Julie M. Cunningham, Matthew J. Maurer, Brooke L. Fridley, Sebastian M. Armasu, Daniel J. Serie, Priya Ramar, Krista Goergen, Robert A. Vierkant, David N. Rider, Hugues Sicotte, Chen Wang, Boris Winterhoff, Catherine M. Phelan, Joellen M. Schildkraut, Rachel P. Weber, Ed Iversen, Andrew Berchuck, Rebecca Sutphen, Michael J. Birrer, Shalaka Hampras, Leah Preus, Simon A. Gayther, Susan J. Ramus, Nicolas Wentzensen, Hannah P. Yang, Montserrat Garcia-Closas, Honglin Song, Jonathan Tyrer, Paul P. D. Pharoah, Gottfried Konecny, Thomas A. Sellers, Roberta B. Ness, Lara E. Sucheston, Kunle Odunsi, Lynn C. Hartmann, Kirsten B. Moysich, Keith L. Knutson
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0053903
Abstract: Although ovarian cancer is the most lethal of gynecologic malignancies, wide variation in outcome following conventional therapy continues to exist. The presence of tumor-infiltrating regulatory T cells (Tregs) has a role in outcome of this disease, and a growing body of data supports the existence of inherited prognostic factors. However, the role of inherited variants in genes encoding Treg-related immune molecules has not been fully explored. We analyzed expression quantitative trait loci (eQTL) and sequence-based tagging single nucleotide polymorphisms (tagSNPs) for 54 genes associated with Tregs in 3,662 invasive ovarian cancer cases. With adjustment for known prognostic factors, suggestive results were observed among rarer histological subtypes; poorer survival was associated with minor alleles at SNPs in RGS1 (clear cell, rs10921202, p = 2.7×10?5), LRRC32 and TNFRSF18/TNFRSF4 (mucinous, rs3781699, p = 4.5×10?4, and rs3753348, p = 9.0×10?4, respectively), and CD80 (endometrioid, rs13071247, p = 8.0×10?4). Fo0r the latter, correlative data support a CD80 rs13071247 genotype association with CD80 tumor RNA expression (p = 0.006). An additional eQTL SNP in CD80 was associated with shorter survival (rs7804190, p = 8.1×10?4) among all cases combined. As the products of these genes are known to affect induction, trafficking, or immunosuppressive function of Tregs, these results suggest the need for follow-up phenotypic studies.
Socioeconomic status and exposure to disinfection by-products in drinking water in Spain
Gemma Casta?o-Vinyals, Kenneth P Cantor, Cristina M Villanueva, Adonina Tardon, Reina Garcia-Closas, Consol Serra, Alfredo Carrato, Núria Malats, Nathaniel Rothman, Debra Silverman, Manolis Kogevinas
Environmental Health , 2011, DOI: 10.1186/1476-069x-10-18
Abstract: We determined the relationship between socioeconomic status and exposure to disinfection by-products in 1271 controls from a multicentric bladder cancer case-control study in Spain. Information on lifetime drinking water sources, swimming pool attendance, showering-bathing practices, and socioeconomic status (education, income) was collected through personal interviews.The most highly educated subjects consumed less tap water (57%) and more bottled water (33%) than illiterate subjects (69% and 17% respectively, p-value = 0.003). These differences became wider in recent time periods. The time spent bathing or showering was positively correlated with attained educational level (p < 0.001). Swimming pool attendance was more frequent among highly educated subjects compared to the illiterate (odds ratio = 3.4; 95% confidence interval 1.6-7.3).The most highly educated subjects were less exposed to chlorination by-products through ingestion but more exposed through dermal contact and inhalation in pools and showers/baths. Health risk perceptions and economic capacity may affect patterns of water consumption that can result in differences in exposure to water contaminants.Environmental inequity has been defined as the disproportionate higher risk of environmental pollution exposure that some individuals suffer due to their race, age, ethnicity, or lower income [1]. It also refers to the equal treatment that all people should receive independently of their individual or social condition resulting from environmental policies, regulations and statutes [2]. Environmental inequity implies a wide variety of concepts, such as environmental classism, environmental justice or environmental racism [3].Some individuals are more likely to be exposed to pollution due to low socioeconomic status. For instance, in the US, minority communities like African-American, Hispanic, Asian and Native American, are more exposed to air, water and soil pollutants released from hazardous waste sites [
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