270 results on '"Bernstein, Jonine"'
Search Results
2. MRI background parenchymal enhancement, breast density and breast cancer risk factors: A cross-sectional study in pre- and post-menopausal women.
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Brooks, Jennifer, Christensen, Rebecca, Sung, Janice, Pike, Malcolm, Orlow, Irene, Bernstein, Jonine, and Morris, Elizabeth
- Abstract
Breast tissue enhances on contrast MRI and is called background parenchymal enhancement (BPE). Having high BPE has been associated with an increased risk of breast cancer. We examined the relationship between BPE and the amount of fibroglandular tissue on MRI (MRI-FGT) and breast cancer risk factors. This was a cross-sectional study of 415 women without breast cancer undergoing contrast-enhanced breast MRI at Memorial Sloan Kettering Cancer Center. All women completed a questionnaire assessing exposures at the time of MRI. Prevalence ratios (PR) and 95% confidence intervals (CI) describing the relationship between breast cancer risk factors and BPE and MRI-FGT were generated using modified Poisson regression. In multivariable-adjusted models a positive association between body mass index (BMI) and BPE was observed, with a 5-unit increase in BMI associated with a 14% and 44% increase in prevalence of high BPE in pre- and post-menopausal women, respectively. Conversely, a strong inverse relationship between BMI and MRI-FGT was observed in both pre- (PR = 0.66, 95% CI 0.57, 0.76) and post-menopausal (PR = 0.66, 95% CI 0.56, 0.78) women. Use of preventive medication (e.g., tamoxifen) was associated with having low BPE, while no association was observed for MRI-FGT. BPE is an imaging marker available from standard contrast-enhanced MRI, that is influenced by endogenous and exogenous hormonal exposures in both pre- and post-menopausal women.
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- 2022
3. Association of breast cancer with MRI background parenchymal enhancement: the IMAGINE case-control study.
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Buys, Saundra, Bradbury, Angela, Brooks, Jennifer, Conant, Emily, Weinstein, Susan, Kontos, Despina, Woods, Meghan, Colonna, Sarah, Liang, Xiaolin, Stein, Matthew, Pike, Malcolm, Bernstein, Jonine, Watt, Gordon, Sung, Janice, and Morris, Elizabeth
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Background parenchymal enhancement ,Breast cancer ,Case-control study ,Magnetic resonance imaging ,Risk factors ,Adult ,Aged ,Breast ,Breast Density ,Breast Neoplasms ,Case-Control Studies ,Contrast Media ,Female ,Follow-Up Studies ,Humans ,Magnetic Resonance Imaging ,Mass Screening ,Middle Aged ,Predictive Value of Tests ,Retrospective Studies ,Risk Assessment ,Risk Factors ,Young Adult - Abstract
BACKGROUND: Background parenchymal enhancement (BPE) on breast magnetic resonance imaging (MRI) may be associated with breast cancer risk, but previous studies of the association are equivocal and limited by incomplete blinding of BPE assessment. In this study, we evaluated the association between BPE and breast cancer based on fully blinded assessments of BPE in the unaffected breast. METHODS: The Imaging and Epidemiology (IMAGINE) study is a multicenter breast cancer case-control study of women receiving diagnostic, screening, or follow-up breast MRI, recruited from three comprehensive cancer centers in the USA. Cases had a first diagnosis of unilateral breast cancer and controls had no history of or current breast cancer. A single board-certified breast radiologist with 12 years experience, blinded to case-control status and clinical information, assessed the unaffected breast for BPE without view of the affected breast of cases (or the corresponding breast laterality of controls). The association between BPE and breast cancer was estimated by multivariable logistic regression separately for premenopausal and postmenopausal women. RESULTS: The analytic dataset included 835 cases and 963 controls. Adjusting for fibroglandular tissue (breast density), age, race/ethnicity, BMI, parity, family history of breast cancer, BRCA1/BRCA2 mutations, and other confounders, moderate/marked BPE (vs minimal/mild BPE) was associated with breast cancer among premenopausal women [odds ratio (OR) 1.49, 95% CI 1.05-2.11; p = 0.02]. Among postmenopausal women, mild/moderate/marked vs minimal BPE had a similar, but statistically non-significant, association with breast cancer (OR 1.45, 95% CI 0.92-2.27; p = 0.1). CONCLUSIONS: BPE is associated with breast cancer in premenopausal women, and possibly postmenopausal women, after adjustment for breast density and confounders. Our results suggest that BPE should be evaluated alongside breast density for inclusion in models predicting breast cancer risk.
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- 2020
4. Associations between circulating proteins and risk of breast cancer by intrinsic subtypes: a Mendelian randomisation analysis
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Shu, Xiang, Zhou, Qin, Sun, Xiaohui, Flesaker, Michelle, Guo, Xingyi, Long, Jirong, Robson, Mark E., Shu, Xiao-Ou, Zheng, Wei, and Bernstein, Jonine L.
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- 2022
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5. Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics
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Ostrom, Quinn T, Egan, Kathleen M, Nabors, L Burt, Gerke, Travis, Thompson, Reid C, Olson, Jeffrey J, LaRocca, Renato, Chowdhary, Sajeel, Eckel‐Passow, Jeanette E, Armstrong, Georgina, Wiencke, John K, Bernstein, Jonine L, Claus, Elizabeth B, Il'yasova, Dora, Johansen, Christoffer, Lachance, Daniel H, Lai, Rose K, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen M, Shete, Sanjay, Houlston, Richard S, Jenkins, Robert B, Wrensch, Margaret R, Melin, Beatrice, Amos, Christopher I, Huse, Jason T, Barnholtz‐Sloan, Jill S, and Bondy, Melissa L
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Human Genome ,Neurosciences ,Rare Diseases ,Brain Disorders ,Genetics ,Black or African American ,Case-Control Studies ,Female ,Genetic Association Studies ,Genetic Loci ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Glioma ,Hispanic or Latino ,Humans ,Male ,Middle Aged ,Polymorphism ,Single Nucleotide ,Risk ,White People ,glioma ,genetic epidemiology ,genetic ancestry ,genome-wide association study ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
Glioma incidence is highest in non-Hispanic Whites, and to date, glioma genome-wide association studies (GWAS) to date have only included European ancestry (EA) populations. African Americans and Hispanics in the US have varying proportions of EA, African (AA) and Native American ancestries (NAA). It is unknown if identified GWAS loci or increased EA is associated with increased glioma risk. We assessed whether EA was associated with glioma in African Americans and Hispanics. Data were obtained for 832 cases and 675 controls from the Glioma International Case-Control Study and GliomaSE Case-Control Study previously estimated to have
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- 2020
6. Association of breast cancer with quantitative mammographic density measures for women receiving contrast-enhanced mammography
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Watt, Gordon P, primary, Keshavamurthy, Krishna N, additional, Nguyen, Tuong L, additional, Lobbes, Marc B I, additional, Jochelson, Maxine S, additional, Sung, Janice S, additional, Moskowitz, Chaya S, additional, Patel, Prusha, additional, Liang, Xiaolin, additional, Woods, Meghan, additional, Hopper, John L, additional, Pike, Malcolm C, additional, and Bernstein, Jonine L, additional
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- 2024
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7. Age‐specific genome‐wide association study in glioblastoma identifies increased proportion of ‘lower grade glioma’‐like features associated with younger age
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Ostrom, Quinn T, Kinnersley, Ben, Armstrong, Georgina, Rice, Terri, Chen, Yanwen, Wiencke, John K, McCoy, Lucie S, Hansen, Helen M, Amos, Christopher I, Bernstein, Jonine L, Claus, Elizabeth B, Eckel‐Passow, Jeanette E, Il'yasova, Dora, Johansen, Christoffer, Lachance, Daniel H, Lai, Rose K, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen M, Shete, Sanjay, Rubin, Joshua B, Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen J, Linet, Martha S, Wang, Zhaoming, Yeager, Meredith, consortium, on behalf of the GliomaScan, Houlston, Richard S, Jenkins, Robert B, Wrensch, Margaret R, Melin, Beatrice, Bondy, Melissa L, and Barnholtz‐Sloan, Jill S
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Brain Cancer ,Rare Diseases ,Neurosciences ,Brain Disorders ,Genetics ,Cancer ,Human Genome ,Adolescent ,Adult ,Age Factors ,Aged ,Brain Neoplasms ,Case-Control Studies ,Female ,Genome-Wide Association Study ,Glioblastoma ,Humans ,Male ,Middle Aged ,Neoplasm Grading ,Polymorphism ,Single Nucleotide ,Young Adult ,glioma ,brain tumors ,age ,GliomaScan consortium ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
Glioblastoma (GBM) is the most common malignant brain tumor in the United States. Incidence of GBM increases with age, and younger age-at-diagnosis is significantly associated with improved prognosis. While the relationship between candidate GBM risk SNPs and age-at-diagnosis has been explored, genome-wide association studies (GWAS) have not previously been stratified by age. Potential age-specific genetic effects were assessed in autosomal SNPs for GBM patients using data from four previous GWAS. Using age distribution tertiles (18-53, 54-64, 65+) datasets were analyzed using age-stratified logistic regression to generate p values, odds ratios (OR), and 95% confidence intervals (95%CI), and then combined using meta-analysis. There were 4,512 total GBM cases, and 10,582 controls used for analysis. Significant associations were detected at two previously identified SNPs in 7p11.2 (rs723527 [p54-63 = 1.50x10-9 , OR54-63 = 1.28, 95%CI54-63 = 1.18-1.39; p64+ = 2.14x10-11 , OR64+ = 1.32, 95%CI64+ = 1.21-1.43] and rs11979158 [p54-63 = 6.13x10-8 , OR54-63 = 1.35, 95%CI54-63 = 1.21-1.50; p64+ = 2.18x10-10 , OR64+ = 1.42, 95%CI64+ = 1.27-1.58]) but only in persons >54. There was also a significant association at the previously identified lower grade glioma (LGG) risk locus at 8q24.21 (rs55705857) in persons ages 18-53 (p18-53 = 9.30 × 10-11 , OR18-53 = 1.76, 95%CI18-53 = 1.49-2.10). Within The Cancer Genome Atlas (TCGA) there was higher prevalence of 'LGG'-like tumor characteristics in GBM samples in those 18-53, with IDH1/2 mutation frequency of 15%, as compared to 2.1% [54-63] and 0.8% [64+] (p = 0.0005). Age-specific differences in cancer susceptibility can provide important clues to etiology. The association of a SNP known to confer risk for IDH1/2 mutant glioma and higher prevalence of IDH1/2 mutation within younger individuals 18-53 suggests that more younger individuals may present initially with 'secondary glioblastoma.'
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- 2018
8. Polygenic risk scores to stratify cancer screening should predict mortality not incidence
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Vickers, Andrew J., Sud, Amit, Bernstein, Jonine, and Houlston, Richard
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- 2022
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9. MRI background parenchymal enhancement, breast density and serum hormones in postmenopausal women.
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Brooks, Jennifer, Sung, Janice, Pike, Malcolm, Orlow, Irene, Stanczyk, Frank, Bernstein, Jonine, and Morris, Elizabeth
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MRI ,background parenchymal enhancement ,breast cancer ,hormones ,Biological Availability ,Body Mass Index ,Breast Density ,Contrast Media ,Estradiol ,Estrone ,Female ,Humans ,Magnetic Resonance Imaging ,Middle Aged ,Postmenopause ,Surveys and Questionnaires - Abstract
Background parenchymal enhancement (BPE) is the degree to which normal breast tissue enhances on contrast-enhanced magnetic resonance imaging (MRI). MRI-density is a volumetric measure of breast density that is highly correlated with mammographic density, an established breast cancer risk factor. Endogenous estrogen concentrations are positively associated with postmenopausal breast cancer risk and BPE has been shown to be sensitive to hormonal exposures. The objective of our study was to examine the relationship between BPE and MRI-density and serum hormone concentrations in postmenopausal women. This was a study of cancer-free postmenopausal women undergoing contrast-enhanced breast MRI (N = 118). At the time of MRI all women completed a self-administered questionnaire and blood samples were collected for hormone analyses. Serum concentrations of estrone (E1), estradiol (E2) and bioavailable E2 were examined by category of BPE and MRI-density. Compared to women with minimal BPE, those who had marked BPE had significantly higher serum concentrations of E1, E2 and bioavailable E2 (90% increase, ptrend across all categories = 0.001; 150% increase, ptrend = 0.001; and 158% increase, ptrend = 0.001, respectively). These associations were only affected to a minor extent by adjustment for BMI and other variables. After adjustment for BMI, no significant associations between MRI-density and serum E1, E2 and bioavailable E2 were observed. Serum estrogen concentrations were significantly positively associated with BPE. Our study provides further evidence of the hormone-sensitive nature of BPE, indicating a potential role for BPE as an imaging marker of endogenous and exogenous hormonal exposures in the breast.
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- 2018
10. Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.
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Ostrom, Quinn T, Kinnersley, Ben, Wrensch, Margaret R, Eckel-Passow, Jeanette E, Armstrong, Georgina, Rice, Terri, Chen, Yanwen, Wiencke, John K, McCoy, Lucie S, Hansen, Helen M, Amos, Christopher I, Bernstein, Jonine L, Claus, Elizabeth B, Il'yasova, Dora, Johansen, Christoffer, Lachance, Daniel H, Lai, Rose K, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen M, Shete, Sanjay, Rubin, Joshua B, Lathia, Justin D, Berens, Michael E, Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen J, Linet, Martha S, Wang, Zhaoming, Yeager, Meredith, GliomaScan consortium, Houlston, Richard S, Jenkins, Robert B, Melin, Beatrice, Bondy, Melissa L, and Barnholtz-Sloan, Jill S
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GliomaScan consortium ,Chromosomes ,Human ,Pair 3 ,Chromosomes ,Human ,Pair 7 ,Chromosomes ,Human ,Pair 8 ,Humans ,Glioma ,Brain Neoplasms ,Genetic Predisposition to Disease ,Logistic Models ,Odds Ratio ,Risk Factors ,Case-Control Studies ,Sex Factors ,Genotype ,Polymorphism ,Single Nucleotide ,Alleles ,Adult ,Middle Aged ,Female ,Male ,Genome-Wide Association Study ,Neurosciences ,Human Genome ,Genetics ,Prevention ,Rare Diseases ,Brain Cancer ,Cancer ,Brain Disorders - Abstract
Incidence of glioma is approximately 50% higher in males. Previous analyses have examined exposures related to sex hormones in women as potential protective factors for these tumors, with inconsistent results. Previous glioma genome-wide association studies (GWAS) have not stratified by sex. Potential sex-specific genetic effects were assessed in autosomal SNPs and sex chromosome variants for all glioma, GBM and non-GBM patients using data from four previous glioma GWAS. Datasets were analyzed using sex-stratified logistic regression models and combined using meta-analysis. There were 4,831 male cases, 5,216 male controls, 3,206 female cases and 5,470 female controls. A significant association was detected at rs11979158 (7p11.2) in males only. Association at rs55705857 (8q24.21) was stronger in females than in males. A large region on 3p21.31 was identified with significant association in females only. The identified differences in effect of risk variants do not fully explain the observed incidence difference in glioma by sex.
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- 2018
11. Mendelian randomisation study of the relationship between vitamin D and risk of glioma.
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Takahashi, Hannah, Cornish, Alex J, Sud, Amit, Law, Philip J, Kinnersley, Ben, Ostrom, Quinn T, Labreche, Karim, Eckel-Passow, Jeanette E, Armstrong, Georgina N, Claus, Elizabeth B, Il'yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S, Olson, Sara H, Bernstein, Jonine L, Lai, Rose K, Schoemaker, Minouk J, Simon, Matthias, Hoffmann, Per, Nöthen, Markus M, Jöckel, Karl-Heinz, Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B, Melin, Beatrice S, Wrensch, Margaret R, Sanson, Marc, Bondy, Melissa L, Turnbull, Clare, and Houlston, Richard S
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Humans ,Glioma ,Brain Neoplasms ,Genetic Predisposition to Disease ,Vitamin D ,Polymorphism ,Single Nucleotide ,Genetic Variation ,Mendelian Randomization Analysis ,Polymorphism ,Single Nucleotide - Abstract
To examine for a causal relationship between vitamin D and glioma risk we performed an analysis of genetic variants associated with serum 25-hydroxyvitamin D (25(OH)D) levels using Mendelian randomisation (MR), an approach unaffected by biases from confounding. Two-sample MR was undertaken using genome-wide association study data. Single nucleotide polymorphisms (SNPs) associated with 25(OH)D levels were used as instrumental variables (IVs). We calculated MR estimates for the odds ratio (OR) for 25(OH)D levels with glioma using SNP-glioma estimates from 12,488 cases and 18,169 controls, using inverse-variance weighted (IVW) and maximum likelihood estimation (MLE) methods. A non-significant association between 25(OH)D levels and glioma risk was shown using both the IVW (OR = 1.21, 95% confidence interval [CI] = 0.90-1.62, P = 0.201) and MLE (OR = 1.20, 95% CI = 0.98-1.48, P = 0.083) methods. In an exploratory analysis of tumour subtype, an inverse relationship between 25(OH)D levels and glioblastoma (GBM) risk was identified using the MLE method (OR = 0.62, 95% CI = 0.43-0.89, P = 0.010), but not the IVW method (OR = 0.62, 95% CI = 0.37-1.04, P = 0.070). No statistically significant association was shown between 25(OH)D levels and non-GBM glioma. Our results do not provide evidence for a causal relationship between 25(OH)D levels and all forms of glioma risk. More evidence is required to explore the relationship between 25(OH)D levels and risk of GBM.
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- 2018
12. Coronary Artery Disease in Young Women After Radiation Therapy for Breast Cancer: The WECARE Study
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Bernstein, Jonine L., Capanu, Marinela, Orlow, Irene, Robson, Mark, Olsen, Jørgen H., Malone, Kathleen E., Stovall, Marilyn, Blackmore, Kristina, Harris, Irene, Langballe, Rikke, O’Brien, Cecilia, Weathers, Rita, West, Michele, Hunter, Lisa, Goldstein, Judy, Ramos, Elaine, Carlson, Lauren E., Watt, Gordon P., Tonorezos, Emily S., Chow, Eric J., Yu, Anthony F., Woods, Meghan, Lynch, Charles F., John, Esther M., Mellemkjӕr, Lene, Brooks, Jennifer D., Knight, Julia A., Reiner, Anne S., Liang, Xiaolin, Smith, Susan A., Bernstein, Leslie, Dauer, Lawrence T., Cerviño, Laura I., Howell, Rebecca M., Shore, Roy E., and Boice, John D., Jr.
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- 2021
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13. Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors
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Melin, Beatrice S, Barnholtz-Sloan, Jill S, Wrensch, Margaret R, Johansen, Christoffer, Il'yasova, Dora, Kinnersley, Ben, Ostrom, Quinn T, Labreche, Karim, Chen, Yanwen, Armstrong, Georgina, Liu, Yanhong, Eckel-Passow, Jeanette E, Decker, Paul A, Labussière, Marianne, Idbaih, Ahmed, Hoang-Xuan, Khe, Di Stefano, Anna-Luisa, Mokhtari, Karima, Delattre, Jean-Yves, Broderick, Peter, Galan, Pilar, Gousias, Konstantinos, Schramm, Johannes, Schoemaker, Minouk J, Fleming, Sarah J, Herms, Stefan, Heilmann, Stefanie, Nöthen, Markus M, Wichmann, Heinz-Erich, Schreiber, Stefan, Swerdlow, Anthony, Lathrop, Mark, Simon, Matthias, Sanson, Marc, Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen, Linet, Martha, Wang, Zhaoming, Yeager, Meredith, Wiencke, John K, Hansen, Helen, McCoy, Lucie, Rice, Terri, Kosel, Matthew L, Sicotte, Hugues, Amos, Christopher I, Bernstein, Jonine L, Davis, Faith, Lachance, Dan, Lau, Ching, Merrell, Ryan T, Shildkraut, Joellen, Ali-Osman, Francis, Sadetzki, Siegal, Scheurer, Michael, Shete, Sanjay, Lai, Rose K, Claus, Elizabeth B, Olson, Sara H, Jenkins, Robert B, Houlston, Richard S, and Bondy, Melissa L
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Biological Sciences ,Genetics ,Rare Diseases ,Human Genome ,Brain Disorders ,Cancer ,Neurosciences ,Prevention ,Brain Cancer ,Alleles ,Brain Neoplasms ,Gene Expression Regulation ,Neoplastic ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Glioblastoma ,Glioma ,Humans ,Meta-Analysis as Topic ,Polymorphism ,Single Nucleotide ,Quantitative Trait Loci ,GliomaScan Consortium ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Genome-wide association studies (GWAS) have transformed our understanding of glioma susceptibility, but individual studies have had limited power to identify risk loci. We performed a meta-analysis of existing GWAS and two new GWAS, which totaled 12,496 cases and 18,190 controls. We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552; P = 2.04 × 10-9, odds ratio (OR) = 1.22), 11q14.1 (rs11233250; P = 9.95 × 10-10, OR = 1.24), 16p13.3 (rs2562152; P = 1.93 × 10-8, OR = 1.21), 16q12.1 (rs10852606; P = 1.29 × 10-11, OR = 1.18) and 22q13.1 (rs2235573; P = 1.76 × 10-10, OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707; P = 3.34 × 10-9, OR = 1.19), 1q44 (rs12076373; P = 2.63 × 10-10, OR = 1.23), 2q33.3 (rs7572263; P = 2.18 × 10-10, OR = 1.20), 3p14.1 (rs11706832; P = 7.66 × 10-9, OR = 1.15), 10q24.33 (rs11598018; P = 3.39 × 10-8, OR = 1.14), 11q21 (rs7107785; P = 3.87 × 10-10, OR = 1.16), 14q12 (rs10131032; P = 5.07 × 10-11, OR = 1.33) and 16p13.3 (rs3751667; P = 2.61 × 10-9, OR = 1.18). These data substantiate that genetic susceptibility to GBM and non-GBM tumors are highly distinct, which likely reflects different etiology.
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- 2017
14. A case-control study of the joint effect of reproductive factors and radiation treatment for first breast cancer and risk of contralateral breast cancer in the WECARE study
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Bernstein, Jonine L., Brooks, Jennifer D., Boice, John D., Jr., Shore, Roy E., Reiner, Anne S., Smith, Susan A., Bernstein, Leslie, Knight, Julia A., Lynch, Charles F., John, Esther M., Malone, Kathleen E., Mellemkjaer, Lene, Langballe, Rikke, Liang, Xiaolin, Woods, Meghan, Tischkowitz, Marc, Concannon, Patrick, and Stram, Daniel O.
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- 2020
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15. The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium
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Amirian, E Susan, Armstrong, Georgina N, Zhou, Renke, Lau, Ching C, Claus, Elizabeth B, Barnholtz-Sloan, Jill S, Il'yasova, Dora, Schildkraut, Joellen, Ali-Osman, Francis, Sadetzki, Siegal, Johansen, Christoffer, Houlston, Richard S, Jenkins, Robert B, Lachance, Daniel, Olson, Sara H, Bernstein, Jonine L, Merrell, Ryan T, Wrensch, Margaret R, Davis, Faith G, Lai, Rose, Shete, Sanjay, Amos, Christopher I, Scheurer, Michael E, Aldape, Kenneth, Alafuzoff, Irina, Brännström, Thomas, Broholm, Helle, Collins, Peter, Giannini, Caterina, Rosenblum, Marc, Tihan, Tarik, Melin, Beatrice S, and Bondy, Melissa L
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Epidemiology ,Health Sciences ,Brain Disorders ,Rare Diseases ,Human Genome ,Clinical Research ,Brain Cancer ,Neurosciences ,Genetics ,Cancer ,Adolescent ,Adult ,Aged ,Aged ,80 and over ,Case-Control Studies ,Female ,Gene-Environment Interaction ,Genetic Predisposition to Disease ,Glioma ,Humans ,Incidence ,International Cooperation ,Male ,Middle Aged ,Molecular Epidemiology ,Retrospective Studies ,Risk Factors ,Young Adult ,cancer ,case-control studies ,glioblastoma ,glioma ,methodology ,study profile ,Mathematical Sciences ,Medical and Health Sciences - Abstract
Decades of research have established only a few etiological factors for glioma, which is a rare and highly fatal brain cancer. Common methodological challenges among glioma studies include small sample sizes, heterogeneity of tumor subtypes, and retrospective exposure assessment. Here, we briefly describe the Glioma International Case-Control (GICC) Study (recruitment, 2010-2013), a study being conducted by the Genetic Epidemiology of Glioma International Consortium that integrates data from multiple data collection sites, uses a common protocol and questionnaire, and includes biospecimen collection. To our knowledge, the GICC Study is the largest glioma study to date that includes collection of blood samples, which will allow for genetic analysis and interrogation of gene-environment interactions.
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- 2016
16. Mammographic texture features associated with contralateral breast cancer in the WECARE Study
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Watt, Gordon P., Knight, Julia A., Lin, Christine, Lynch, Charles F., Malone, Kathleen E., John, Esther M., Bernstein, Leslie, Brooks, Jennifer D., Reiner, Anne S., Liang, Xiaolin, Woods, Meghan, Nguyen, Tuong L., Hopper, John L., Pike, Malcolm C., and Bernstein, Jonine L.
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- 2021
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17. Association of Breast Cancer Odds with Background Parenchymal Enhancement Quantified Using a Fully Automated Method at MRI: The IMAGINE Study
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Watt, Gordon P., primary, Thakran, Snekha, additional, Sung, Janice S., additional, Jochelson, Maxine S., additional, Lobbes, Marc B. I., additional, Weinstein, Susan P., additional, Bradbury, Angela R., additional, Buys, Saundra S., additional, Morris, Elizabeth A., additional, Apte, Aditya, additional, Patel, Prusha, additional, Woods, Meghan, additional, Liang, Xiaolin, additional, Pike, Malcolm C., additional, Kontos, Despina, additional, and Bernstein, Jonine L., additional
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- 2023
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18. Description of selected characteristics of familial glioma patients – Results from the Gliogene Consortium
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Sadetzki, Siegal, Bruchim, Revital, Oberman, Bernice, Armstrong, Georgina N, Lau, Ching C, Claus, Elizabeth B, Barnholtz-Sloan, Jill S, Il’yasova, Dora, Schildkraut, Joellen, Johansen, Christoffer, Houlston, Richard S, Shete, Sanjay, Amos, Christopher I, Bernstein, Jonine L, Olson, Sara H, Jenkins, Robert B, Lachance, Daniel, Vick, Nicholas A, Merrell, Ryan, Wrensch, Margaret, Davis, Faith G, McCarthy, Bridget J, Lai, Rose, Melin, Beatrice S, Bondy, Melissa L, and Consortium, Gliogene
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Brain Disorders ,Cancer ,Clinical Research ,Neurosciences ,Rare Diseases ,Brain Cancer ,Adolescent ,Adult ,Age Factors ,Aged ,Aged ,80 and over ,Child ,Child ,Preschool ,Denmark ,Family Health ,Female ,Glioma ,Humans ,Incidence ,Infant ,Israel ,Male ,Middle Aged ,Neoplasm Grading ,Pedigree ,Prevalence ,Sex Factors ,Sweden ,United States ,Young Adult ,Familial glioma ,Clinical characteristics ,Genetic counselling ,Gliogene Consortium ,Oncology and Carcinogenesis ,Public Health and Health Services ,Oncology & Carcinogenesis - Abstract
BackgroundWhile certain inherited syndromes (e.g. Neurofibromatosis or Li-Fraumeni) are associated with an increased risk of glioma, most familial gliomas are non-syndromic. This study describes the demographic and clinical characteristics of the largest series of non-syndromic glioma families ascertained from 14 centres in the United States (US), Europe and Israel as part of the Gliogene Consortium.MethodsFamilies with 2 or more verified gliomas were recruited between January 2007 and February 2011. Distributions of demographic characteristics and clinical variables of gliomas in the families were described based on information derived from personal questionnaires.FindingsThe study population comprised 841 glioma patients identified in 376 families (9797 individuals). There were more cases of glioma among males, with a male to female ratio of 1.25. In most families (83%), 2 gliomas were reported, with 3 and 4 gliomas in 13% and 3% of the families, respectively. For families with 2 gliomas, 57% were among 1st-degree relatives, and 31.5% among 2nd-degree relatives. Overall, the mean (±standard deviation [SD]) diagnosis age was 49.4 (±18.7) years. In 48% of families with 2 gliomas, at least one was diagnosed at
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- 2013
19. A Variable Age of Onset Segregation Model for Linkage Analysis, with Correction for Ascertainment, Applied to Glioma
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Sun, Xiangqing, Vengoechea, Jaime, Elston, Robert, Chen, Yanwen, Amos, Christopher I, Armstrong, Georgina, Bernstein, Jonine L, Claus, Elizabeth, Davis, Faith, Houlston, Richard S, Il'yasova, Dora, Jenkins, Robert B, Johansen, Christoffer, Lai, Rose, Lau, Ching C, Liu, Yanhong, McCarthy, Bridget J, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen, Shete, Sanjay, Yu, Robert, Vick, Nicholas A, Merrell, Ryan, Wrensch, Margaret, Yang, Ping, Melin, Beatrice, Bondy, Melissa L, Barnholtz-Sloan, Jill S, and Consortium, on behalf of the Gliogene
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Epidemiology ,Health Sciences ,Clinical Research ,Neurosciences ,Rare Diseases ,Brain Disorders ,Genetics ,Human Genome ,Adult ,Age of Onset ,Brain Neoplasms ,Female ,Gene Frequency ,Genetic Linkage ,Glioma ,Humans ,Likelihood Functions ,Lod Score ,Male ,Middle Aged ,Models ,Genetic ,Pedigree ,Prevalence ,United States ,Gliogene Consortium ,Medical and Health Sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
BackgroundWe propose a 2-step model-based approach, with correction for ascertainment, to linkage analysis of a binary trait with variable age of onset and apply it to a set of multiplex pedigrees segregating for adult glioma.MethodsFirst, we fit segregation models by formulating the likelihood for a person to have a bivariate phenotype, affection status and age of onset, along with other covariates, and from these we estimate population trait allele frequencies and penetrance parameters as a function of age (N = 281 multiplex glioma pedigrees). Second, the best fitting models are used as trait models in multipoint linkage analysis (N = 74 informative multiplex glioma pedigrees). To correct for ascertainment, a prevalence constraint is used in the likelihood of the segregation models for all 281 pedigrees. Then the trait allele frequencies are reestimated for the pedigree founders of the subset of 74 pedigrees chosen for linkage analysis.ResultsUsing the best-fitting segregation models in model-based multipoint linkage analysis, we identified 2 separate peaks on chromosome 17; the first agreed with a region identified by Shete and colleagues who used model-free affected-only linkage analysis, but with a narrowed peak: and the second agreed with a second region they found but had a larger maximum log of the odds (LOD).ConclusionsOur approach was able to narrow the linkage peak previously published for glioma.ImpactWe provide a practical solution to model-based linkage analysis for disease affection status with variable age of onset for the kinds of pedigree data often collected for linkage analysis.
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- 2012
20. Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma
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Liu, Yanhong, Melin, Beatrice S, Rajaraman, Preetha, Wang, Zhaoming, Linet, Martha, Shete, Sanjay, Amos, Christopher I, Lau, Ching C, Scheurer, Michael E, Tsavachidis, Spiridon, Armstrong, Georgina N, Houlston, Richard S, Hosking, Fay J, Claus, Elizabeth B, Barnholtz-Sloan, Jill, Lai, Rose, Il’yasova, Dora, Schildkraut, Joellen, Sadetzki, Siegal, Johansen, Christoffer, Bernstein, Jonine L, Olson, Sara H, Jenkins, Robert B, LaChance, Daniel, Vick, Nicholas A, Wrensch, Margaret, Davis, Faith, McCarthy, Bridget J, Andersson, Ulrika, Thompson, Patricia A, Chanock, Stephen, The Gliogene Consortium, and Bondy, Melissa L
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Human Genome ,Cancer ,Brain Disorders ,Clinical Research ,Brain Cancer ,Neurosciences ,Rare Diseases ,Aetiology ,2.1 Biological and endogenous factors ,Adolescent ,Adult ,Brain Neoplasms ,Chromosome Mapping ,Female ,Genetic Predisposition to Disease ,Glioma ,Haplotypes ,Humans ,Male ,Middle Aged ,Polymorphism ,Single Nucleotide ,Gliogene Consortium ,Complementary and Alternative Medicine ,Paediatrics and Reproductive Medicine ,Genetics & Heredity ,Reproductive medicine - Abstract
The risk of glioma has consistently been shown to be increased twofold in relatives of patients with primary brain tumors (PBT). A recent genome-wide linkage study of glioma families provided evidence for a disease locus on 17q12-21.32, with the possibility of four additional risk loci at 6p22.3, 12p13.33-12.1, 17q22-23.2, and 18q23. To identify the underlying genetic variants responsible for the linkage signals, we compared the genotype frequencies of 5,122 SNPs mapping to these five regions in 88 glioma cases with and 1,100 cases without a family history of PBT (discovery study). An additional series of 84 familial and 903 non-familial cases were used to replicate associations. In the discovery study, 12 SNPs showed significant associations with family history of PBT (P < 0.001). In the replication study, two of the 12 SNPs were confirmed: 12p13.33-12.1 PRMT8 rs17780102 (P = 0.031) and 17q12-21.32 SPOP rs650461 (P = 0.025). In the combined analysis of discovery and replication studies, the strongest associations were attained at four SNPs: 12p13.33-12.1 PRMT8 rs17780102 (P = 0.0001), SOX5 rs7305773 (P = 0.0001) and STKY1 rs2418087 (P = 0.0003), and 17q12-21.32 SPOP rs6504618 (P = 0.0006). Further, a significant gene-dosage effect was found for increased risk of family history of PBT with these four SNPs in the combined data set (P(trend)
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- 2012
21. Association of breast cancer with MRI background parenchymal enhancement: the IMAGINE case-control study
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Watt, Gordon P., Sung, Janice, Morris, Elizabeth A., Buys, Saundra S., Bradbury, Angela R., Brooks, Jennifer D., Conant, Emily F., Weinstein, Susan P., Kontos, Despina, Woods, Meghan, Colonna, Sarah V., Liang, Xiaolin, Stein, Matthew A., Pike, Malcolm C., and Bernstein, Jonine L.
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- 2020
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22. Adjuvant systemic therapy for breast cancer in BRCA1/BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer
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Reding, Kerryn W, Bernstein, Jonine L, Langholz, Bryan M, Bernstein, Leslie, Haile, Robert W, Begg, Colin B, Lynch, Charles F, Concannon, Patrick, Borg, Ake, Teraoka, Sharon N, Törngren, Therese, Diep, Anh, Xue, Shanyan, Bertelsen, Lisbeth, Liang, Xiaolin, Reiner, Anne S, Capanu, Marinela, Malone, Kathleen E, and The WECARE Collaborative Study Group
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Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Genetic Testing ,Breast Cancer ,Prevention ,Cancer ,Clinical Research ,Genetics ,Evaluation of treatments and therapeutic interventions ,6.1 Pharmaceuticals ,Adult ,Antineoplastic Combined Chemotherapy Protocols ,BRCA1 Protein ,BRCA2 Protein ,Breast Neoplasms ,Case-Control Studies ,Chemotherapy ,Adjuvant ,DNA Mutational Analysis ,Denmark ,Female ,Humans ,Likelihood Functions ,Logistic Models ,Middle Aged ,Mutation ,Neoplasm Recurrence ,Local ,Registries ,Risk Assessment ,Risk Factors ,SEER Program ,Tamoxifen ,Treatment Outcome ,United States ,Young Adult ,WECARE Collaborative Study Group ,Clinical Sciences ,Oncology & Carcinogenesis ,Clinical sciences ,Oncology and carcinogenesis - Abstract
Given the greatly elevated risks of contralateral breast cancer (CBC) observed in breast cancer patients who carry mutations in BRCA1 and BRCA2, it is critical to determine the effectiveness of standard adjuvant therapies in preventing CBC in mutation carriers. The WECARE study is a matched, case-control study of 708 women with CBC as cases and 1,399 women with unilateral breast cancer (UBC) as controls, including 181 BRCA1/BRCA2 mutation carriers. Interviews and medical record reviews provided detailed information on risk factors and breast cancer therapy. All study participants were screened for BRCA1 and BRCA2 mutations using denaturing high-performance liquid chromatography (DHPLC) to detect genetic variants in the coding and flanking regions of the genes. Conditional logistic regression was used to compare the risk of CBC associated with chemotherapy and tamoxifen in BRCA1/BRCA2 mutation carriers and non-carriers. Chemotherapy was associated with lower CBC risk both in non-carriers (RR = 0.6 [95% CI: 0.5-0.7]) and carriers (RR = 0.5 [95% CI: 0.2-1.0]; P value = 0.04). Tamoxifen was associated with a reduced CBC risk in non-carriers (RR = 0.7 [95% CI: 0.6-1.0]; P value = 0.03). We observed a similar but non-significant reduction associated with tamoxifen in mutation carriers (RR = 0.7 [95% CI: 0.3-1.8]). The tests of heterogeneity comparing carriers to non-carriers did not provide evidence for a difference in the associations with chemotherapy (P value = 0.51) nor with tamoxifen (P value = 0.15). Overall, we did not observe a difference in the relative risk reduction associated with adjuvant treatment between BRCA1/BRCA2 mutation carriers and non-carriers. However, given the higher absolute CBC risk in mutation carriers, the potentially greater impact of adjuvant therapy in reducing CBC risk among mutation carriers should be considered when developing treatment plans for these patients.
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- 2010
23. Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study
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Poynter, Jenny N, Langholz, Bryan, Largent, Joan, Mellemkjær, Lene, Bernstein, Leslie, Malone, Kathleen E, Lynch, Charles F, Borg, Åke, Concannon, Patrick, Teraoka, Sharon N, Xue, Shanyan, Diep, Anh T, Törngren, Therese, Begg, Colin B, Capanu, Marinela, Haile, Robert W, The WECARE Study Collaborative Group, and Bernstein, Jonine L
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Health Services and Systems ,Biomedical and Clinical Sciences ,Health Sciences ,Oncology and Carcinogenesis ,Contraception/Reproduction ,Clinical Research ,Genetics ,Breast Cancer ,Aging ,Prevention ,Cancer ,Aetiology ,2.1 Biological and endogenous factors ,Reproductive health and childbirth ,Good Health and Well Being ,BRCA2 Protein ,Breast Neoplasms ,Case-Control Studies ,Female ,Genes ,BRCA2 ,Humans ,Logistic Models ,Menarche ,Menopause ,Mutation ,Neoplasms ,Parity ,Pregnancy ,Reproductive History ,Risk ,Risk Factors ,Contralateral breast cancer ,BRCA1 ,BRCA2 ,Reproductive factors ,WECARE Study Collaborative Group ,Public Health and Health Services ,Epidemiology ,Oncology and carcinogenesis - Abstract
ObjectiveReproductive factors, such as early age at menarche, late age at menopause, and nulliparity are known risk factors for breast cancer. Previously, we reported these factors to be associated with risk of developing contralateral breast cancer (CBC). In this study, we evaluated the association between these factors and CBC risk among BRCA1 and BRCA2 (BRCA1/2) mutation carriers and non-carriers.MethodsThe WECARE Study is a population-based multi-center case-control study of 705 women with CBC (cases) and 1,397 women with unilateral breast cancer (controls). All participants were screened for BRCA1/2 mutations and 181 carriers were identified. Conditional logistic regression models were used to evaluate associations between reproductive factors and CBC for mutation carriers and non-carriers.ResultsNone of the associations between reproductive factors and CBC risk differed between mutation carriers and non-carriers. The increase in risk with younger age at menarche and decrease in risk in women with more than two full-term pregnancies seen in non-carriers were not significantly different in carriers (adjusted RRs = 1.31, 95% CI 0.65-2.65 and 0.53, 95% CI 0.19-1.51, respectively). No significant associations between the other reproductive factors and CBC risk were observed in mutation carriers or non-carriers.ConclusionFor two reproductive factors previously shown to be associated with CBC risk, we observed similar associations for BRCA1/2 carriers. This suggests that reproductive variables that affect CBC risk may have similar effects in mutation carriers and non-carriers.
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- 2010
24. Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study.
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Bernstein, Jonine L, Haile, Robert W, Stovall, Marilyn, Boice, John D, Shore, Roy E, Langholz, Bryan, Thomas, Duncan C, Bernstein, Leslie, Lynch, Charles F, Olsen, Jorgen H, Malone, Kathleen E, Mellemkjaer, Lene, Borresen-Dale, Anne-Lise, Rosenstein, Barry S, Teraoka, Sharon N, Diep, Anh T, Smith, Susan A, Capanu, Marinela, Reiner, Anne S, Liang, Xiaolin, Gatti, Richard A, Concannon, Patrick, and WECARE Study Collaborative Group
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WECARE Study Collaborative Group ,Humans ,Breast Neoplasms ,Neoplasms ,Radiation-Induced ,Neoplasms ,Second Primary ,DNA Damage ,Radiation Injuries ,Genetic Predisposition to Disease ,Protein-Serine-Threonine Kinases ,Cell Cycle Proteins ,DNA-Binding Proteins ,Tumor Suppressor Proteins ,Odds Ratio ,Risk Assessment ,Risk Factors ,Case-Control Studies ,Environmental Exposure ,Age Factors ,Mutation ,Missense ,Time Factors ,International Cooperation ,Adult ,Aged ,Middle Aged ,Female ,Ataxia Telangiectasia Mutated Proteins ,Neoplasms ,Radiation-Induced ,Second Primary ,Mutation ,Missense ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
BackgroundIonizing radiation is a known mutagen and an established breast carcinogen. The ATM gene is a key regulator of cellular responses to the DNA damage induced by ionizing radiation. We investigated whether genetic variants in ATM play a clinically significant role in radiation-induced contralateral breast cancer in women.MethodsThe Women's Environmental, Cancer, and Radiation Epidemiology Study is an international population-based case-control study nested within a cohort of 52,536 survivors of unilateral breast cancer diagnosed between 1985 and 2000. The 708 case subjects were women with contralateral breast cancer, and the 1397 control subjects were women with unilateral breast cancer matched to the case subjects on age, follow-up time, registry reporting region, and race and/or ethnicity. All women were interviewed and underwent full mutation screening of the entire ATM gene. Complete medical treatment history information was collected, and for all women who received radiotherapy, the radiation dose to the contralateral breast was reconstructed using radiotherapy records and radiation measurements. Rate ratios (RRs) and corresponding 95% confidence intervals (CIs) were estimated by using multivariable conditional logistic regression. All P values are two-sided.ResultsAmong women who carried a rare ATM missense variant (ie, one carried by or =1.0 Gy: RR = 3.3, 95% CI = 1.4 to 8.0) or compared with unexposed women who carried the same predicted deleterious missense variant (0.01-0.99 Gy: RR = 5.3, 95% CI = 1.6 to 17.3; > or =1.0 Gy: RR = 5.8, 95% CI = 1.8 to 19.0; P(trend) = .044).ConclusionsWomen who carry rare deleterious ATM missense variants and who are treated with radiation may have an elevated risk of developing contralateral breast cancer. However, the rarity of these deleterious missense variants in human populations implies that ATM mutations could account for only a small portion of second primary breast cancers.
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- 2010
25. The Descriptive Epidemiology of Second Primary Breast Cancer
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Bernstein, Jonine L., Lapinski, Robert H., Thakore, Seema S., Doucette, John T., and Thompson, W. Douglas
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- 2003
26. Dose to the Contralateral Breast From Radiotherapy and Risk of Second Primary Breast Cancer in the WECARE Study
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Stovall, Marilyn, Smith, Susan A, Langholz, Bryan M, Boice, John D, Shore, Roy E, Andersson, Michael, Buchholz, Thomas A, Capanu, Marinela, Bernstein, Leslie, Lynch, Charles F, Malone, Kathleen E, Anton-Culver, Hoda, Haile, Robert W, Rosenstein, Barry S, Reiner, Anne S, Thomas, Duncan C, Bernstein, Jonine L, and Group, WECARE Study Collaborative
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Clinical Research ,Breast Cancer ,Cancer ,7.3 Management and decision making ,Management of diseases and conditions ,Adult ,Body Burden ,Breast Neoplasms ,Denmark ,Female ,Humans ,Incidence ,Middle Aged ,Neoplasms ,Radiation-Induced ,Neoplasms ,Second Primary ,Radiotherapy ,Radiotherapy Dosage ,Relative Biological Effectiveness ,Risk Assessment ,Risk Factors ,Treatment Outcome ,United States ,Women's Health ,Contralateral breast ,Radiation risk ,Secondary breast cancer ,Women's Environmental ,Cancer ,and Radiation Epidemiology Study Collaborative Group ,Other Physical Sciences ,Clinical Sciences ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
PurposeTo quantify the risk of second primary breast cancer in the contralateral breast (CB) after radiotherapy (RT) for first breast cancer.Methods and materialsThe study population included participants in the Women's Environmental, Cancer, and Radiation Epidemiology study: 708 cases (women with asynchronous bilateral breast cancer) and 1399 controls (women with unilateral breast cancer) counter-matched on radiation treatment. Participants were 1.0 Gy of absorbed dose to the specific quadrant of the CB had a 2.5-fold greater risk for CB cancer than unexposed women (RR = 2.5, 95% CI 1.4-4.5). No excess risk was observed in women >40 years of age. Women 5 years had a RR of 3.0 (95% CI 1.1-8.1), and the dose response was significant (excess RR per Gy of 1.0, 95% CI 0.1-3.0).ConclusionsWomen 1.0 Gy to the CB had an elevated, long-term risk of developing a second primary CB cancer. The risk is inversely related to age at exposure and is dose dependent.
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- 2008
27. Effect of Systemic Adjuvant Treatment on Risk for Contralateral Breast Cancer in the Women's Environment, Cancer and Radiation Epidemiology Study
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Bertelsen, Lisbeth, Bernstein, Leslie, Olsen, Jørgen H, Mellemkjær, Lene, Haile, Robert W, Lynch, Charles F, Malone, Kathleen E, Anton-Culver, Hoda, Christensen, Jane, Langholz, Bryan, Thomas, Duncan C, Begg, Colin B, Capanu, Marinela, Ejlertsen, Bent, Stovall, Marilyn, Boice, John D, Shore, Roy E, and Bernstein, Jonine L
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Prevention ,Clinical Research ,Aging ,Breast Cancer ,Cancer ,Evaluation of treatments and therapeutic interventions ,6.1 Pharmaceuticals ,Adult ,Antineoplastic Agents ,Hormonal ,Antineoplastic Combined Chemotherapy Protocols ,Breast Neoplasms ,Case-Control Studies ,Chemotherapy ,Adjuvant ,Confounding Factors ,Epidemiologic ,Cyclophosphamide ,Doxorubicin ,Estrogen Receptor Modulators ,Female ,Fluorouracil ,Humans ,Menopause ,Methotrexate ,Middle Aged ,Multivariate Analysis ,Neoplasms ,Second Primary ,Ovary ,Radiotherapy ,Adjuvant ,Research Design ,Risk Assessment ,Tamoxifen ,Treatment Outcome ,Women's Environment ,Cancer and Radiation Epidemiology Study Collaborative Group ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
BackgroundResults from randomized trials indicate that treatment with tamoxifen or chemotherapy for primary breast cancer reduces the risk for contralateral breast cancer. However, less is known about how long the risk is reduced and the impact of factors such as age and menopausal status.MethodsThe study included 634 women with contralateral breast cancer (case patients) and 1158 women with unilateral breast cancer (control subjects) from the Women's Environment, Cancer and Radiation Epidemiology Study. The women were younger than age 55 when they were first diagnosed with breast cancer during 1985-1999. Rate ratios (RRs) and 95% confidence intervals (CIs) for contralateral breast cancer after treatment with chemotherapy or tamoxifen were assessed by multivariable adjusted conditional logistic regression analyses.ResultsChemotherapy was associated with a lower risk for contralateral breast cancer (RR = 0.57, 95% CI = 0.42 to 0.75) than no chemotherapy. A statistically significant association between chemotherapy and reduced risk for contralateral breast cancer persisted up to 10 years after the first breast cancer diagnosis and was stronger among women who became postmenopausal within 1 year of the first breast cancer diagnosis (RR = 0.28, 95% CI = 0.11 to 0.76). Tamoxifen use was also associated with reduced risk for contralateral breast cancer (RR = 0.66, 95% CI = 0.50 to 0.88) compared with no use, and the association was statistically significant for 5 years after the first diagnosis.ConclusionThe associations between chemotherapy and tamoxifen treatment and reduced risk for contralateral breast cancer appear to continue for 10 and 5 years, respectively, after the initial breast cancer is diagnosed. Ovarian suppression may have a role in the association between chemotherapy and reduced risk for contralateral breast cancer.
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- 2008
28. Study design: Evaluating gene–environment interactions in the etiology of breast cancer – the WECARE study
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Bernstein, Jonine L, Langholz, Bryan, Haile, Robert W, Bernstein, Leslie, Thomas, Duncan C, Stovall, Marilyn, Malone, Kathleen E, Lynch, Charles F, Olsen, Jørgen H, Anton-Culver, Hoda, Shore, Roy E, Boice, John D, Berkowitz, Gertrud S, Gatti, Richard A, Teitelbaum, Susan L, Smith, Susan A, Rosenstein, Barry S, Børresen-Dale, Anne-Lise, Concannon, Patrick, and Thompson, W Douglas
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Clinical Research ,Breast Cancer ,Cancer ,Prevention ,Genetics ,Genetic Testing ,2.1 Biological and endogenous factors ,Aetiology ,2.2 Factors relating to the physical environment ,Adult ,Alleles ,Ataxia Telangiectasia Mutated Proteins ,Breast Neoplasms ,Case-Control Studies ,Cell Cycle Proteins ,Cocarcinogenesis ,DNA-Binding Proteins ,Female ,Genes ,BRCA1 ,Genes ,BRCA2 ,Genes ,Tumor Suppressor ,Genetic Predisposition to Disease ,Genotype ,Humans ,Likelihood Functions ,Middle Aged ,Neoplasms ,Radiation-Induced ,Neoplasms ,Second Primary ,Phantoms ,Imaging ,Protein Serine-Threonine Kinases ,Radiotherapy ,Radiotherapy Dosage ,Registries ,Research Design ,Single-Blind Method ,Tumor Suppressor Proteins ,bilateral breast cancer ,breast cancer susceptibility genes ,counter-matching ,gene-environment interactions ,radiation dosimetry ,study design ,WECARE study ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
IntroductionDeficiencies in cellular responses to DNA damage can predispose to cancer. Ionizing radiation can cause cluster damage and double-strand breaks (DSBs) that pose problems for cellular repair processes. Three genes (ATM, BRCA1, and BRCA2) encode products that are essential for the normal cellular response to DSBs, but predispose to breast cancer when mutated.DesignTo examine the joint roles of radiation exposure and genetic susceptibility in the etiology of breast cancer, we designed a case-control study nested within five population-based cancer registries. We hypothesized that a woman carrying a mutant allele in one of these genes is more susceptible to radiation-induced breast cancer than is a non-carrier. In our study, 700 women with asynchronous bilateral breast cancer were individually matched to 1400 controls with unilateral breast cancer on date and age at diagnosis of the first breast cancer, race, and registry region, and counter-matched on radiation therapy. Each triplet comprised two women who received radiation therapy and one woman who did not. Radiation absorbed dose to the contralateral breast after initial treatment was estimated with a comprehensive dose reconstruction approach that included experimental measurements in anthropomorphic and water phantoms applying patient treatment parameters. Blood samples were collected from all participants for genetic analyses.ConclusionsOur study design improves the potential for detecting gene-environment interactions for diseases when both gene mutations and the environmental exposures of interest are rare in the general population. This is particularly applicable to the study of bilateral breast cancer because both radiation dose and genetic susceptibility have important etiologic roles, possibly by interactive mechanisms. By using counter-matching, we optimized the informativeness of the collected dosimetry data by increasing the variability of radiation dose within the case-control sets and enhanced our ability to detect radiation-genotype interactions.
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- 2004
29. Influence of obesity-related risk factors in the aetiology of glioma
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Disney-Hogg, Linden, Sud, Amit, Law, Philip J., Cornish, Alex J., Kinnersley, Ben, Ostrom, Quinn T., Labreche, Karim, Eckel-Passow, Jeanette E., Armstrong, Georgina N., Claus, Elizabeth B., Il’yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Swerdlow, Anthony J., Simon, Matthias, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, Bondy, Melissa L., and Houlston, Richard S.
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- 2018
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30. The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women
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Larionov, Alexey, Fewings, Eleanor, Redman, James, Goldgraben, Mae, Clark, Graeme, Boice, John, Concannon, Patrick, Bernstein, Jonine, Conti, David V, Group, The Wecare Study Collaborative, Tischkowitz, Marc, Tischkowitz, Marc [0000-0002-7880-0628], and Apollo - University of Cambridge Repository
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Cancer Research ,Oncology ,contralateral breast cancer ,genomics ,hereditary breast cancer ,exome sequencing ,Article - Abstract
Peer reviewed: True, Funder: UK Medical Research Council PhD pro-gramme, Simple Summary: As the treatment for breast cancer continues to improve and more women survive their initial diagnosis, there is an increasingly large number of women who are at risk of a second new breast cancer in their lifetimes. However, the hereditary causes of these second breast cancers are not well understood. In this study, we used the latest genetic sequencing technologies to investigate hereditary causes for the second breast cancer in individuals who are known not to have alterations in one of the three main breast cancer genes (BRCA1, BRCA2 and PALB2). We analyzed the genetic profiles of selected participants from the WECARE study, one of the largest studies looking at second breast cancers in women. By comparing the genetic profiles of women who have had one breast cancer to similarly matched women who went on to have a second breast cancer, we found that younger women (under 50) with second breast cancers had a higher number of inherited gene alterations compared with those women with one breast cancer. We did not see the same effect in the older women. The results from this study improve our understanding of the hereditary contribution to second breast cancers. Abstract: Background: Contralateral breast cancer (CBC) is associated with younger age at first diagnosis, family history and pathogenic germline variants (PGVs) in genes such as BRCA1, BRCA2 and PALB2. However, data regarding genetic factors predisposing to CBC among younger women who are BRCA1/2/PALB2-negative remain limited. Methods: In this nested case-control study, participants negative for BRCA1/2/PALB2 PGVs were selected from the WECARE Study. The burden of PGVs in established breast cancer risk genes was compared in 357 cases with CBC and 366 matched controls with unilateral breast cancer (UBC). The samples were sequenced in two phases. Whole exome sequencing was used in Group 1, 162 CBC and 172 UBC (mean age at diagnosis: 42 years). A targeted panel of genes was used in Group 2, 195 CBC and 194 UBC (mean age at diagnosis: 50 years). Comparisons of PGVs burdens between CBC and UBC were made in these groups, and additional stratified sub-analysis was performed within each group according to the age at diagnosis and the time from first breast cancer (BC). Results: The PGVs burden in Group 1 was significantly higher in CBC than in UBC (p = 0.002, OR = 2.5, 95CI: 1.2–5.6), driven mainly by variants in CHEK2 and ATM. The proportions of PGVs carriers in CBC and UBC in this group were 14.8% and 5.8%, respectively. There was no significant difference in PGVs burden between CBC and UBC in Group 2 (p = 0.4, OR = 1.4, 95CI: 0.7–2.8), with proportions of carriers being 8.7% and 8.2%, respectively. There was a significant association of PGVs in CBC with younger age. Metanalysis combining both groups confirmed the significant association between the burden of PGVs and the risk of CBC (p = 0.006) with the significance driven by the younger cases (Group 1). Conclusion: In younger BRCA1/BRCA2/PALB2-negative women, the aggregated burden of PGVs in breast cancer risk genes was associated with the increased risk of CBC and was inversely proportional to the age at onset.
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- 2023
31. Publisher Correction: Mendelian randomisation study of the relationship between vitamin D and risk of glioma
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Takahashi, Hannah, Cornish, Alex J., Sud, Amit, Law, Philip J., Kinnersley, Ben, Ostrom, Quinn T., Labreche, Karim, Eckel-Passow, Jeanette E., Armstrong, Georgina N., Claus, Elizabeth B., Il’yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Schoemaker, Minouk J., Simon, Matthias, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, Bondy, Melissa L., Turnbull, Clare, and Houlston, Richard S.
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- 2019
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32. Association of Common Genetic Variants With Contralateral Breast Cancer Risk in the WECARE Study
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Robson, Mark E., Reiner, Anne S., Brooks, Jennifer D., Concannon, Patrick J., John, Esther M., Mellemkjaer, Lene, Bernstein, Leslie, Malone, Kathleen E., Knight, Julia A., Lynch, Charles F., Woods, Meghan, Liang, Xiaolin, Haile, Robert W., Duggan, David J., Shore, Roy E., Smith, Susan A., Thomas, Duncan C., Stram, Daniel O., and Bernstein, Jonine L.
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- 2017
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33. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
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Lakeman, Inge M. M., Van Den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul, Clinical Genetics, Medical Oncology, Surgery, Pathology, Gynecological Oncology, Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Schmidt, Marjanka K [0000-0002-2228-429X], HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Lakeman IMM] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [van den Broek AJ, Vos JAM] Division of Molecular Pathology, The Netherlands Cancer Institute–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. [Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Adlard J] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. [Andrulis IL] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. [Balmaña J] Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Human Genetics, ARD - Amsterdam Reproduction and Development, APH - Personalized Medicine, APH - Quality of Care, Chapel Allerton Hospital, University of Leeds, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Reykjavík University, Division of Oncology, Department of Gynaecology and Obstetrics, University Hospital Schleswig–Holstein, The University of Texas M.D. Anderson Cancer Center [Houston], Unitat d'Alt Risc i Prevenció del Càncer, Vall d'Hebron University Hospital [Barcelona], University of Cambridge [UK] (CAM), Group of Human Genetics, Human Cancer Genetics Programme, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Section of Genetic Oncology, University of Pisa - Università di Pisa, Columbia University [New York], Ghent University Hospital, Department of Clinical Genetics, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Department of Laboratory Medicine and Pathology, Mayo Clinic, Division of Population Science, Fox Chase Cancer Center, Institut Curie [Paris], Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL), CHU Grenoble, CHI Poissy-Saint-Germain, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and Klinische Genetica
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0301 basic medicine ,Percentile ,Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [DISEASES] ,Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES] ,SUSCEPTIBILITY ALLELES ,Diàtesi ,FAMILIES ,Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14] ,MESH: BRCA2 Protein ,Breast cancer ,0302 clinical medicine ,MESH: Risk Factors ,Risk Factors ,Other subheadings::/diagnosis [Other subheadings] ,Medicine and Health Sciences ,Medicine ,Mama - Càncer - Diagnòstic ,Family history ,skin and connective tissue diseases ,Genetics (clinical) ,MESH: Heterozygote ,neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES] ,Factors de risc en les malalties ,BRCA1 Protein ,Hazard ratio ,MESH: Genetic Predisposition to Disease ,1184 Genetics, developmental biology, physiology ,article ,OVARIAN ,BRCA2 Protein/genetics ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,3. Good health ,030220 oncology & carcinogenesis ,Female ,Malalties congènites ,Adult ,Heterozygote ,medicine.medical_specialty ,MESH: Mutation ,Risk factors in diseases ,Otros calificadores::/diagnóstico [Otros calificadores] ,Breast Neoplasms ,Context (language use) ,MUTATION CARRIERS ,Càncer de mama ,afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad [ENFERMEDADES] ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Internal medicine ,Humans ,Genetic Predisposition to Disease ,MESH: BRCA1 Protein ,Retrospective Studies ,BRCA2 Protein ,MESH: Humans ,business.industry ,Proportional hazards model ,CONSORTIUM ,Breast Neoplasms/diagnosis ,MESH: Adult ,MESH: Retrospective Studies ,Retrospective cohort study ,medicine.disease ,Confidence interval ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Mutation ,BRCA1 Protein/genetics ,3111 Biomedicine ,business ,MESH: Female ,MESH: Breast Neoplasms - Abstract
Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic variant Purpose To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC
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- 2021
34. The association of mammographic density with risk of contralateral breast cancer and change in density with treatment in the WECARE study
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Knight, Julia A., Blackmore, Kristina M., Fan, Jing, Malone, Kathleen E., John, Esther M., Lynch, Charles F., Vachon, Celine M., Bernstein, Leslie, Brooks, Jennifer D., Reiner, Anne S., Liang, Xiaolin, Woods, Meghan, WECARE Study Collaborative Group, and Bernstein, Jonine L.
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- 2018
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35. Impact of atopy on risk of glioma: a Mendelian randomisation study
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Disney-Hogg, Linden, Cornish, Alex J., Sud, Amit, Law, Philip J., Kinnersley, Ben, Jacobs, Daniel I., Ostrom, Quinn T., Labreche, Karim, Eckel-Passow, Jeanette E., Armstrong, Georgina N., Claus, Elizabeth B., Il’yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Schoemaker, Minouk J., Simon, Matthias, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, Bondy, Melissa L., and Houlston, Richard S.
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- 2018
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36. Reproductive factors, tumor estrogen receptor status and contralateral breast cancer risk: results from the WECARE study
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Sisti, Julia S., Bernstein, Jonine L., Lynch, Charles F., Reiner, Anne S., Mellemkjaer, Lene, Brooks, Jennifer D., Knight, Julia A., Bernstein, Leslie, Malone, Kathleen E., Woods, Meghan, Liang, Xiaolin, John, Esther M., and the WECARE Study Collaborative Group
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- 2015
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37. Common variants in genes coding for chemotherapy metabolizing enzymes, transporters, and targets: a case–control study of contralateral breast cancer risk in the WECARE Study
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The WECARE Study Collaborative Group, Brooks, Jennifer D., Teraoka, Sharon N., Bernstein, Leslie, Mellemkjær, Lene, Malone, Kathleen E., Lynch, Charles F., Haile, Robert W., Concannon, Patrick, Reiner, Anne S., Duggan, David J., Schiermeyer, Katherine, Bernstein, Jonine L., and Figueiredo, Jane C.
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- 2013
38. Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study
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The WECARE Study Collaborative Group, Poynter, Jenny N., Langholz, Bryan, Largent, Joan, Mellemkjær, Lene, Bernstein, Leslie, Malone, Kathleen E., Lynch, Charles F., Borg, Åke, Concannon, Patrick, Teraoka, Sharon N., Xue, Shanyan, Diep, Anh T., Törngren, Therese, Begg, Colin B., Capanu, Marinela, Haile, Robert W., and Bernstein, Jonine L.
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- 2010
39. Statistical Methods for Analysis of Radiation Effects with Tumor and Dose Location-Specific Information with Application to the WECARE Study of Asynchronous Contralateral Breast Cancer
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Langholz, Bryan, Thomas, Duncan C., Stovall, Marilyn, Smith, Susan A., Boice,, John D., Shore, Roy E., Bernstein, Leslie, Lynch, Charles F., Zhang, Xinbo, and Bernstein, Jonine L.
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- 2009
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40. Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma
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Bainbridge, Matthew N., Armstrong, Georgina N., Gramatges, M. Monica, Bertuch, Alison A., Jhangiani, Shalini N., Doddapaneni, Harsha, Lewis, Lora, Tombrello, Joseph, Tsavachidis, Spyros, Liu, Yanhong, Jalali, Ali, Plon, Sharon E., Lau, Ching C., Parsons, Donald W., Claus, Elizabeth B., Barnholtz-Sloan, Jill, Il’yasova, Dora, Schildkraut, Joellen, Ali-Osman, Francis, Sadetzki, Siegal, Johansen, Christoffer, Houlston, Richard S., Jenkins, Robert B., Lachance, Daniel, Olson, Sara H., Bernstein, Jonine L., Merrell, Ryan T., Wrensch, Margaret R., Walsh, Kyle M., Davis, Faith G., Lai, Rose, Shete, Sanjay, Aldape, Kenneth, Amos, Christopher I., Thompson, Patricia A., Muzny, Donna M., Gibbs, Richard A., Melin, Beatrice S., and Bondy, Melissa L.
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- 2015
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41. The Emergence of Networks in Human Genome Epidemiology: "Challenges and Opportunities"
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Seminara, Daniela, Khoury, Muin J., O'Brien, Thomas R., Manolio, Teri, Gwinn, Marta L., Little, Julian, Higgins, Julian P. T., Bernstein, Jonine L., Boffetta, Paolo, Bondy, Melissa, Bray, Molly S., Brenchley, Paul E., Buffler, Patricia A., Casas, Juan Pablo, Chokkalingam, Anand P., Danesh, John, Smith, George Davey, Dolan, Siobhan, Duncan, Ross, Gruis, Nelleke A., Hashibe, Mia, Hunter, David, Jarvelin, Marjo-Riitta, Malmer, Beatrice, Maraganore, Demetrius M., Newton-Bishop, Julia A., Riboli, Elio, Salanti, Georgia, Taioli, Emanuela, Timpson, Nic, Uitterlinden, André G., Vineis, Paolo, Wareham, Nick, Winn, Deborah M., Zimmern, Ron, and Ioannidis, John P. A.
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- 2007
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42. Coronary Artery Disease in Young Women After Radiation Therapy for Breast Cancer
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Carlson, Lauren E., primary, Watt, Gordon P., additional, Tonorezos, Emily S., additional, Chow, Eric J., additional, Yu, Anthony F., additional, Woods, Meghan, additional, Lynch, Charles F., additional, John, Esther M., additional, Mellemkjӕr, Lene, additional, Brooks, Jennifer D., additional, Knight, Julia A., additional, Reiner, Anne S., additional, Liang, Xiaolin, additional, Smith, Susan A., additional, Bernstein, Leslie, additional, Dauer, Lawrence T., additional, Cerviño, Laura I., additional, Howell, Rebecca M., additional, Shore, Roy E., additional, Boice, John D., additional, Bernstein, Jonine L., additional, Capanu, Marinela, additional, Orlow, Irene, additional, Robson, Mark, additional, Olsen, Jørgen H., additional, Malone, Kathleen E., additional, Stovall, Marilyn, additional, Blackmore, Kristina, additional, Harris, Irene, additional, Langballe, Rikke, additional, O’Brien, Cecilia, additional, Weathers, Rita, additional, West, Michele, additional, Hunter, Lisa, additional, Goldstein, Judy, additional, and Ramos, Elaine, additional
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- 2021
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43. Searching for causal relationships of glioma:a phenome-wide Mendelian randomisation study
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Saunders, Charlie N., Cornish, Alex J., Kinnersley, Ben, Law, Philip J., Houlston, Richard S., Claus, Elizabeth B., Il’yasova, Dora, Schildkraut, Joellen, Barnholtz-Sloan, Jill S., Olson, Sara H., Bernstein, Jonine L., Lai, Rose K., Chanock, Stephen, Rajaraman, Preetha, Johansen, Christoffer, Jenkins, Robert B., Melin, Beatrice S., Wrensch, Margaret R., Sanson, Marc, and Bondy, Melissa L.
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Oncology ,0303 health sciences ,Cancer Research ,medicine.medical_specialty ,business.industry ,Genome-wide association study ,Odds ratio ,Phenome ,medicine.disease ,Phenotype ,03 medical and health sciences ,symbols.namesake ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Glioma ,Internal medicine ,medicine ,Etiology ,Mendelian inheritance ,symbols ,business ,030304 developmental biology ,Genetic association - Abstract
Background The aetiology of glioma is poorly understood. Summary data from genome-wide association studies (GWAS) can be used in a Mendelian randomisation (MR) phenome-wide association study (PheWAS) to search for glioma risk factors. Methods We performed an MR-PheWAS analysing 316 phenotypes, proxied by 8387 genetic variants, and summary genetic data from a GWAS of 12,488 glioma cases and 18,169 controls. Causal effects were estimated under a random-effects inverse-variance-weighted (IVW-RE) model, with robust adjusted profile score (MR-RAPS), weighted median and mode-based estimates computed to assess the robustness of findings. Odds ratios per one standard deviation increase in each phenotype were calculated for all glioma, glioblastoma (GBM) and non-GBM tumours. Results No significant associations (P −4) were observed between phenotypes and glioma under the IVW-RE model. Suggestive associations (1.58 × 10−4 P SD = 3.91, P = 9.24 × 10−3) and GBM (ORSD = 4.86, P = 3.23 × 10−2), but the association was primarily driven by the TERT variant rs2736100. Serum low-density lipoprotein cholesterol and plasma HbA1C showed suggestive associations with glioma (ORSD = 1.11, P = 1.39 × 10−2 and ORSD = 1.28, P = 1.73 × 10−2, respectively), both associations being reliant on single genetic variants. Conclusions Our study provides further insight into the aetiological basis of glioma for which published data have been mixed.
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- 2021
44. Common variants in genes coding for chemotherapy metabolizing enzymes, transporters, and targets: a case–control study of contralateral breast cancer risk in the WECARE Study
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Brooks, Jennifer D., Teraoka, Sharon N., Bernstein, Leslie, Mellemkjær, Lene, Malone, Kathleen E., Lynch, Charles F., Haile, Robert W., Concannon, Patrick, Reiner, Anne S., Duggan, David J., Schiermeyer, Katherine, Bernstein, Jonine L., Figueiredo, Jane C., and The WECARE Study Collaborative Group
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- 2013
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45. Smoking, Radiation Therapy, and Contralateral Breast Cancer Risk in Young Women.
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Reiner, Anne S, Watt, Gordon P, John, Esther M, Lynch, Charles F, Brooks, Jennifer D, Mellemkjær, Lene, Boice, John D, Knight, Julia A, Concannon, Patrick, Smith, Susan A, Liang, Xiaolin, Woods, Meghan, Shore, Roy, Malone, Kathleen E, Bernstein, Leslie, Group, The WECARE Study Collaborative, Bernstein, Jonine L, and WECARE Study Collaborative Group
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RESEARCH ,RESEARCH methodology ,CASE-control method ,EVALUATION research ,COMPARATIVE studies ,SECONDARY primary cancer ,BREAST ,RESEARCH funding ,SMOKING ,BREAST tumors - Abstract
Evidence is mounting that cigarette smoking contributes to second primary contralateral breast cancer (CBC) risk. Whether radiation therapy (RT) interacts with smoking to modify this risk is unknown. In this multicenter, individually matched, case-control study, we examined the association between RT, smoking, and CBC risk. The study included 1521 CBC cases and 2212 controls with unilateral breast cancer, all diagnosed with first invasive breast cancer between 1985 and 2008 aged younger than 55 years. Absorbed radiation doses to contralateral breast regions were estimated with thermoluminescent dosimeters in tissue-equivalent anthropomorphic phantoms, and smoking history was collected by interview. Rate ratios (RRs) and 95% confidence intervals (CIs) for CBC risk were estimated by multivariable conditional logistic regression. There was no interaction between any measure of smoking with RT to increase CBC risk (eg, the interaction of continuous RT dose with smoking at first breast cancer diagnosis [ever/never]: RR = 1.00, 95% CI = 0.89 to 1.14; continuous RT dose with years smoked: RR = 1.00, 95% CI = 0.99 to 1.01; and continuous RT dose with lifetime pack-years: RR = 1.00, 95% CI = 0.99 to 1.01). There was no evidence that RT further increased CBC risk in young women with first primary breast cancer who were current smokers or had smoking history. [ABSTRACT FROM AUTHOR]
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- 2022
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46. A case-control study of the joint effect of reproductive factors and radiation treatment for first breast cancer and risk of contralateral breast cancer in the WECARE study
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Brooks, Jennifer D., primary, Boice, John D., additional, Shore, Roy E., additional, Reiner, Anne S., additional, Smith, Susan A., additional, Bernstein, Leslie, additional, Knight, Julia A., additional, Lynch, Charles F., additional, John, Esther M., additional, Malone, Kathleen E., additional, Mellemkjaer, Lene, additional, Langballe, Rikke, additional, Liang, Xiaolin, additional, Woods, Meghan, additional, Tischkowitz, Marc, additional, Concannon, Patrick, additional, Stram, Daniel O., additional, and Bernstein, Jonine L., additional
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- 2020
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47. Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy
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Pitter, Kenneth L, primary, Casey, Dana L, additional, Lu, Yue C, additional, Hannum, Margaret, additional, Zhang, Zhigang, additional, Song, Xinmao, additional, Pecorari, Isabella, additional, McMillan, Biko, additional, Ma, Jennifer, additional, Samstein, Robert M, additional, Pei, Isaac X, additional, Khan, Atif J, additional, Braunstein, Lior Z, additional, Morris, Luc G T, additional, Barker, Christopher A, additional, Rimner, Andreas, additional, Alektiar, Kaled M, additional, Romesser, Paul B, additional, Crane, Christopher H, additional, Yahalom, Joachim, additional, Zelefsky, Michael J, additional, Scher, Howard I, additional, Bernstein, Jonine L, additional, Mandelker, Diana L, additional, Weigelt, Britta, additional, Reis-Filho, Jorge S, additional, Lee, Nancy Y, additional, Powell, Simon N, additional, Chan, Timothy A, additional, Riaz, Nadeem, additional, and Setton, Jeremy, additional
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- 2020
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48. Machine learning on genome-wide association studies to predict the risk of radiation-associated contralateral breast cancer in the WECARE Study
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Lee, Sangkyu, primary, Liang, Xiaolin, additional, Woods, Meghan, additional, Reiner, Anne S., additional, Concannon, Patrick, additional, Bernstein, Leslie, additional, Lynch, Charles F., additional, Boice, John D., additional, Deasy, Joseph O., additional, Bernstein, Jonine L., additional, and Oh, Jung Hun, additional
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- 2020
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49. Lack of association between modifiable exposures and glioma risk: A Mendelian randomisation analysis
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Saunders, Charlie N, primary, Cornish, Alex J, additional, Kinnersley, Ben, additional, Law, Philip J, additional, Claus, Elizabeth B, additional, Il’yasova, Dora, additional, Schildkraut, Joellen, additional, Barnholtz-Sloan, Jill S, additional, Olson, Sara H, additional, Bernstein, Jonine L, additional, Lai, Rose K, additional, Chanock, Stephen, additional, Rajaraman, Preetha, additional, Johansen, Christoffer, additional, Jenkins, Robert B, additional, Melin, Beatrice S, additional, Wrensch, Margaret R, additional, Sanson, Marc, additional, Bondy, Melissa L, additional, and Houlston, Richard S, additional
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- 2019
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50. Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases
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Khoury, Muin J., Bertram, Lars, Boffetta, Paolo, Butterworth, Adam S., Chanock, Stephen J., Dolan, Siobhan M., Fortier, Isabel, Garcia-Closas, Montserrat, Gwinn, Marta, Higgins, Julian P. T., Janssens, A Cecile J. W., Ostell, James, Owen, Ryan P., Pagon, Roberta A., Rebbeck, Timothy R., Rothman, Nathaniel, Bernstein, Jonine L., Burton, Paul R., Campbell, Harry, Chockalingam, Anand, Furberg, Helena, Little, Julian, OʼBrien, Thomas R., Seminara, Daniela, Vineis, Paolo, Winn, Deborah M., Yu, Wei, and Ioannidis, John P. A.
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- 2009
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