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1. Association of Breast Cancer Odds with Background Parenchymal Enhancement Quantified Using a Fully Automated Method at MRI: The IMAGINE Study.

Author

Watt, Gordon, Thakran, Snekha, Sung, Janice, Jochelson, Maxine, Lobbes, Marc, Weinstein, Susan, Bradbury, Angela, Buys, Saundra, Morris, Elizabeth, Apte, Aditya, Patel, Prusha, Woods, Meghan, Liang, Xiaolin, Pike, Malcolm, Kontos, Despina, and Bernstein, Jonine

Subjects
Humans, Female, Middle Aged, Breast Neoplasms, Case-Control Studies, Magnetic Resonance Imaging, Breast, Certification
Abstract

Background Background parenchymal enhancement (BPE) at breast MRI has been associated with increased breast cancer risk in several independent studies. However, variability of subjective BPE assessments have precluded its use in clinical practice. Purpose To examine the association between fully objective measures of BPE at MRI and odds of breast cancer. Materials and Methods This prospective case-control study included patients who underwent a bilateral breast MRI examination and were receiving care at one of three centers in the United States from November 2010 to July 2017. Breast volume, fibroglandular tissue (FGT) volume, and BPE were quantified using fully automated software. Fat volume was defined as breast volume minus FGT volume. BPE extent was defined as the proportion of FGT voxels with enhancement of 20% or more. Spearman rank correlation between quantitative BPE extent and Breast Imaging Reporting and Data System (BI-RADS) BPE categories assigned by an experienced board-certified breast radiologist was estimated. With use of multivariable logistic regression, breast cancer case-control status was regressed on tertiles (low, moderate, and high) of BPE, FGT volume, and fat volume, with adjustment for covariates. Results In total, 536 case participants with breast cancer (median age, 48 years [IQR, 43-55 years]) and 940 cancer-free controls (median age, 46 years [IQR, 38-55 years]) were included. BPE extent was positively associated with BI-RADS BPE (rs = 0.54; P < .001). Compared with low BPE extent (range, 2.9%-34.2%), high BPE extent (range, 50.7%-97.3%) was associated with increased odds of breast cancer (odds ratio [OR], 1.74 [95% CI: 1.23, 2.46]; P for trend = .002) in a multivariable model also including FGT volume (OR, 1.39 [95% CI: 0.97, 1.98]) and fat volume (OR, 1.46 [95% CI: 1.04, 2.06]). The association of high BPE extent with increased odds of breast cancer was similar for premenopausal and postmenopausal women (ORs, 1.75 and 1.83, respectively; interaction P = .73). Conclusion Objectively measured BPE at breast MRI is associated with increased breast cancer odds for both premenopausal and postmenopausal women. Clinical trial registration no. NCT02301767 © RSNA, 2023 Supplemental material is available for this article. See also the editorial by Bokacheva in this issue.

Published
2023

2. MRI background parenchymal enhancement, breast density and breast cancer risk factors: A cross-sectional study in pre- and post-menopausal women.

Author

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.

Published
2022

4. Association of breast cancer with MRI background parenchymal enhancement: the IMAGINE case-control study.

Author

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

Subjects
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.

Published
2020

6. Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics

Author

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

Subjects
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

Published
2020

7. Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants that Confer Risk for Breast Cancer

Author

Sun, Xiaohui, primary, Verma, Shiv Prakash, additional, Jia, Guochong, additional, Wang, Xinjun, additional, Ping, Jie, additional, Guo, Xingyi, additional, Shu, Xiao-Ou, additional, Chen, Jianhong, additional, Derkach, Andriy, additional, Cai, Qiuyin, additional, Liang, Xiaolin, additional, Long, Jirong, additional, Offit, Kenneth, additional, Oh, Jung Hun, additional, Reiner, Anne S., additional, Watt, Gordon P., additional, Woods, Meghan, additional, Yang, Yaohua, additional, Ambrosone, Christine B., additional, Ambs, Stefan, additional, Chen, Yu, additional, Concannon, Patrick, additional, Garcia-Closas, Montserrat, additional, Gu, Jian, additional, Haiman, Christopher A., additional, Hu, Jennifer J., additional, Huo, Dezheng, additional, John, Esther M., additional, Knight, Julia A., additional, Li, Christopher I., additional, Lynch, Charles F., additional, Mellemkjaer, Lene, additional, Nathanson, Katherine L., additional, Nemesure, Barbara, additional, Olopade, Olufunmilayo I., additional, Olshan, Andrew F., additional, Pal, Tuya, additional, Palmer, Julie R., additional, Press, Michael F., additional, Sanderson, Maureen, additional, Sandler, Dale P., additional, Troester, Melissa A., additional, Zheng, Wei, additional, Bernstein, Jonine L., additional, Buas, Matthew F., additional, and Shu, Xiang, additional

Published
2024
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8. Age‐specific genome‐wide association study in glioblastoma identifies increased proportion of ‘lower grade glioma’‐like features associated with younger age

Author

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

Subjects
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.'

Published
2018

9. First international workshop of the ATM and cancer risk group (4-5 December 2019)

Author

Lesueur, Fabienne, Easton, Douglas F., Renault, Anne-Laure, Tavtigian, Sean V., Bernstein, Jonine L., Kote-Jarai, Zsofia, Eeles, Rosalind A., Plaseska-Karanfia, Dijana, Feliubadaló, Lidia, Arun, Banu, Herold, Natalie, Versmold, Beatrix, Schmutzler, Rita Katharina, Nguyen-Dumont, Tú, Southey, Melissa C., Dorling, Leila, Dunning, Alison M., Ghiorzo, Paola, Dalmasso, Bruna Samia, Cavaciuti, Eve, Le Gal, Dorothée, Roberts, Nicholas J., Dominguez-Valentin, Mev, Rookus, Matti, Taylor, Alexander M. R., Goldstein, Alisa M., Goldgar, David E., Stoppa-Lyonnet, Dominique, and Andrieu, Nadine

Published
2022
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11. Recommendations on statistical approaches to account for dose uncertainties in radiation epidemiologic risk models.

Author

Bellamy, Michael B., Bernstein, Jonine L., Cullings, Harry M., French, Benjamin, Grogan, Helen A., Held, Kathryn D., Little, Mark P., and Tekwe, Carmen D.

Subjects
*RADIATION dosimetry, *RADIATION doses, *RADIATION
Abstract

Purpose: Epidemiological studies of stochastic radiation health effects such as cancer, meant to estimate risks of the adverse effects as a function of radiation dose, depend largely on estimates of the radiation doses received by the exposed group under study. Those estimates are based on dosimetry that always has uncertainty, which often can be quite substantial. Studies that do not incorporate statistical methods to correct for dosimetric uncertainty may produce biased estimates of risk and incorrect confidence bounds on those estimates. This paper reviews commonly used statistical methods to correct radiation risk regressions for dosimetric uncertainty, with emphasis on some newer methods. We begin by describing the types of dose uncertainty that may occur, including those in which an uncertain value is shared by part or all of a cohort, and then demonstrate how these sources of uncertainty arise in radiation dosimetry. We briefly describe the effects of different types of dosimetric uncertainty on risk estimates, followed by a description of each method of adjusting for the uncertainty. Conclusions: Each of the method has strengths and weaknesses, and some methods have limited applicability. We describe the types of uncertainty to which each method can be applied and its pros and cons. Finally, we provide summary recommendations and touch briefly on suggestions for further research. [ABSTRACT FROM AUTHOR]

Published
2024
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12. MRI background parenchymal enhancement, breast density and serum hormones in postmenopausal women.

Author

Brooks, Jennifer, Sung, Janice, Pike, Malcolm, Orlow, Irene, Stanczyk, Frank, Bernstein, Jonine, and Morris, Elizabeth

Subjects
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.

Published
2018

13. 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.

Author

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

Subjects
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.

Published
2018

14. Mendelian randomisation study of the relationship between vitamin D and risk of glioma.

Author

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

Subjects
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.

Published
2018

15. Association of breast cancer with quantitative mammographic density measures for women receiving contrast-enhanced mammography

Author

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

Published
2024
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16. Coronary Artery Disease in Young Women After Radiation Therapy for Breast Cancer: The WECARE Study

Author

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.

Published
2021
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17. Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors

Author

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

Subjects
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.

Published
2017

18. 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

Author

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.

Published
2020
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19. A genome-wide association study of contralateral breast cancer in the Women’s Environmental Cancer and Radiation Epidemiology Study

Author

Sun, Xiaohui, primary, Reiner, Anne S., additional, Tran, Anh Phong, additional, Watt, Gordon P., additional, Oh, Jung Hun, additional, Mellemkjær, Lene, additional, Lynch, Charles F., additional, Knight, Julia A., additional, John, Esther M., additional, Malone, Kathleen E., additional, Liang, Xiaolin, additional, Woods, Meghan, additional, Derkach, Andriy, additional, Concannon, Patrick, additional, Bernstein, Jonine L., additional, and Shu, Xiang, additional

Published
2024
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20. The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium

Author

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

Subjects
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.

Published
2016

22. The Implications of Genetic Testing on Radiation Therapy Decisions: A Guide for Radiation Oncologists

Author

Bergom, Carmen, West, Catharine M., Higginson, Daniel S., Abazeed, Mohamed E., Arun, Banu, Bentzen, Soren M., Bernstein, Jonine L., Evans, Jaden D., Gerber, Naamit K., Kerns, Sarah L., Keen, Judy, Litton, Jennifer K., Reiner, Anne S., Riaz, Nadeem, Rosenstein, Barry S., Sawakuchi, Gabriel O., Shaitelman, Simona F., Powell, Simon N., and Woodward, Wendy A.

Published
2019
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23. Trends in Radiation Dose to the Contralateral Breast During Breast Cancer Radiation Therapy

Author

Watt, Gordon P., primary, Smith, Susan A., additional, Howell, Rebecca M., additional, Pérez-Andújar, Angélica, additional, Reiner, Anne S., additional, Cerviño, Laura, additional, McCormick, Beryl, additional, Hess, Daniela, additional, Knight, Julia A., additional, Malone, Kathleen E., additional, John, Esther M., additional, Bernstein, Leslie, additional, Lynch, Charles F., additional, Mellemkjær, Lene, additional, Shore, Roy E., additional, Liang, Xiaolin, additional, Woods, Meghan, additional, Boice, John D., additional, Dauer, Lawrence T., additional, and Bernstein, Jonine L., additional

Published
2023
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26. Glioma-related seizures in relation to histopathological subtypes: a report from the glioma international case–control study

Author

Berntsson, Shala G., Merrell, Ryan T., Amirian, E. Susan, Armstrong, Georgina N., Lachance, Daniel, Smits, Anja, Zhou, Renke, Jacobs, Daniel I., Wrensch, Margaret R., Olson, Sara H., Il’yasova, Dora, Claus, Elizabeth B., Barnholtz-Sloan, Jill S., Schildkraut, Joellen, Sadetzki, Siegal, Johansen, Christoffer, Houlston, Richard S., Jenkins, Robert B., Bernstein, Jonine L., Lai, Rose, Shete, Sanjay, Amos, Christopher I., Bondy, Melissa L., and Melin, Beatrice S.

Published
2018
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27. Influence of obesity-related risk factors in the aetiology of glioma

Author

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.

Published
2018
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28. Suppl. Table 1 from Approaching a Scientific Consensus on the Association between Allergies and Glioma Risk: A Report from the Glioma International Case-Control Study

Author

Amirian, E. Susan, primary, Zhou, Renke, primary, Wrensch, Margaret R., primary, Olson, Sara H., primary, Scheurer, Michael E., primary, Il'yasova, Dora, primary, Lachance, Daniel, primary, Armstrong, Georgina N., primary, McCoy, Lucie S., primary, Lau, Ching C., primary, Claus, Elizabeth B., primary, Barnholtz-Sloan, Jill S., primary, Schildkraut, Joellen, primary, Ali-Osman, Francis, primary, Sadetzki, Siegal, primary, Johansen, Christoffer, primary, Houlston, Richard S., primary, Jenkins, Robert B., primary, Bernstein, Jonine L., primary, Merrell, Ryan T., primary, Davis, Faith G., primary, Lai, Rose, primary, Shete, Sanjay, primary, Amos, Christopher I., primary, Melin, Beatrice S., primary, and Bondy, Melissa L., primary

Published
2023
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29. Supplementary Table 7 from Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma

Author

Atkins, Isabelle, primary, Kinnersley, Ben, primary, Ostrom, Quinn T., primary, Labreche, Karim, primary, Il'yasova, Dora, primary, Armstrong, Georgina N., primary, Eckel-Passow, Jeanette E., primary, Schoemaker, Minouk J., primary, Nöthen, Markus M., primary, Barnholtz-Sloan, Jill S., primary, Swerdlow, Anthony J., primary, Simon, Matthias, primary, Rajaraman, Preetha, primary, Chanock, Stephen J., primary, Shildkraut, Joellen, primary, Bernstein, Jonine L., primary, Hoffmann, Per, primary, Jöckel, Karl-Heinz, primary, Lai, Rose K., primary, Claus, Elizabeth B., primary, Olson, Sara H., primary, Johansen, Christoffer, primary, Wrensch, Margaret R., primary, Melin, Beatrice, primary, Jenkins, Robert B., primary, Sanson, Marc, primary, Bondy, Melissa L., primary, and Houlston, Richard S., primary

Published
2023
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30. Data from A Variable Age of Onset Segregation Model for Linkage Analysis, with Correction for Ascertainment, Applied to Glioma

Author

Sun, Xiangqing, primary, Vengoechea, Jaime, primary, Elston, Robert, primary, Chen, Yanwen, primary, Amos, Christopher I., primary, Armstrong, Georgina, primary, Bernstein, Jonine L., primary, Claus, Elizabeth, primary, Davis, Faith, primary, Houlston, Richard S., primary, Il'yasova, Dora, primary, Jenkins, Robert B., primary, Johansen, Christoffer, primary, Lai, Rose, primary, Lau, Ching C., primary, Liu, Yanhong, primary, McCarthy, Bridget J., primary, Olson, Sara H., primary, Sadetzki, Siegal, primary, Schildkraut, Joellen, primary, Shete, Sanjay, primary, Yu, Robert, primary, Vick, Nicholas A., primary, Merrell, Ryan, primary, Wrensch, Margaret, primary, Yang, Ping, primary, Melin, Beatrice, primary, Bondy, Melissa L., primary, and Barnholtz-Sloan, Jill S., primary

Published
2023
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31. Supplementary Methods from A Variable Age of Onset Segregation Model for Linkage Analysis, with Correction for Ascertainment, Applied to Glioma

Author

Sun, Xiangqing, primary, Vengoechea, Jaime, primary, Elston, Robert, primary, Chen, Yanwen, primary, Amos, Christopher I., primary, Armstrong, Georgina, primary, Bernstein, Jonine L., primary, Claus, Elizabeth, primary, Davis, Faith, primary, Houlston, Richard S., primary, Il'yasova, Dora, primary, Jenkins, Robert B., primary, Johansen, Christoffer, primary, Lai, Rose, primary, Lau, Ching C., primary, Liu, Yanhong, primary, McCarthy, Bridget J., primary, Olson, Sara H., primary, Sadetzki, Siegal, primary, Schildkraut, Joellen, primary, Shete, Sanjay, primary, Yu, Robert, primary, Vick, Nicholas A., primary, Merrell, Ryan, primary, Wrensch, Margaret, primary, Yang, Ping, primary, Melin, Beatrice, primary, Bondy, Melissa L., primary, and Barnholtz-Sloan, Jill S., primary

Published
2023
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32. Supplementary Table 1 from A Variable Age of Onset Segregation Model for Linkage Analysis, with Correction for Ascertainment, Applied to Glioma

Author

Sun, Xiangqing, primary, Vengoechea, Jaime, primary, Elston, Robert, primary, Chen, Yanwen, primary, Amos, Christopher I., primary, Armstrong, Georgina, primary, Bernstein, Jonine L., primary, Claus, Elizabeth, primary, Davis, Faith, primary, Houlston, Richard S., primary, Il'yasova, Dora, primary, Jenkins, Robert B., primary, Johansen, Christoffer, primary, Lai, Rose, primary, Lau, Ching C., primary, Liu, Yanhong, primary, McCarthy, Bridget J., primary, Olson, Sara H., primary, Sadetzki, Siegal, primary, Schildkraut, Joellen, primary, Shete, Sanjay, primary, Yu, Robert, primary, Vick, Nicholas A., primary, Merrell, Ryan, primary, Wrensch, Margaret, primary, Yang, Ping, primary, Melin, Beatrice, primary, Bondy, Melissa L., primary, and Barnholtz-Sloan, Jill S., primary

Published
2023
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33. Supplementary Figure 4 from A Variable Age of Onset Segregation Model for Linkage Analysis, with Correction for Ascertainment, Applied to Glioma

Author

Sun, Xiangqing, primary, Vengoechea, Jaime, primary, Elston, Robert, primary, Chen, Yanwen, primary, Amos, Christopher I., primary, Armstrong, Georgina, primary, Bernstein, Jonine L., primary, Claus, Elizabeth, primary, Davis, Faith, primary, Houlston, Richard S., primary, Il'yasova, Dora, primary, Jenkins, Robert B., primary, Johansen, Christoffer, primary, Lai, Rose, primary, Lau, Ching C., primary, Liu, Yanhong, primary, McCarthy, Bridget J., primary, Olson, Sara H., primary, Sadetzki, Siegal, primary, Schildkraut, Joellen, primary, Shete, Sanjay, primary, Yu, Robert, primary, Vick, Nicholas A., primary, Merrell, Ryan, primary, Wrensch, Margaret, primary, Yang, Ping, primary, Melin, Beatrice, primary, Bondy, Melissa L., primary, and Barnholtz-Sloan, Jill S., primary

Published
2023
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34. Supplementary Figure 3 from A Variable Age of Onset Segregation Model for Linkage Analysis, with Correction for Ascertainment, Applied to Glioma

Author

Sun, Xiangqing, primary, Vengoechea, Jaime, primary, Elston, Robert, primary, Chen, Yanwen, primary, Amos, Christopher I., primary, Armstrong, Georgina, primary, Bernstein, Jonine L., primary, Claus, Elizabeth, primary, Davis, Faith, primary, Houlston, Richard S., primary, Il'yasova, Dora, primary, Jenkins, Robert B., primary, Johansen, Christoffer, primary, Lai, Rose, primary, Lau, Ching C., primary, Liu, Yanhong, primary, McCarthy, Bridget J., primary, Olson, Sara H., primary, Sadetzki, Siegal, primary, Schildkraut, Joellen, primary, Shete, Sanjay, primary, Yu, Robert, primary, Vick, Nicholas A., primary, Merrell, Ryan, primary, Wrensch, Margaret, primary, Yang, Ping, primary, Melin, Beatrice, primary, Bondy, Melissa L., primary, and Barnholtz-Sloan, Jill S., primary

Published
2023
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35. Data from Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma

Author

Atkins, Isabelle, primary, Kinnersley, Ben, primary, Ostrom, Quinn T., primary, Labreche, Karim, primary, Il'yasova, Dora, primary, Armstrong, Georgina N., primary, Eckel-Passow, Jeanette E., primary, Schoemaker, Minouk J., primary, Nöthen, Markus M., primary, Barnholtz-Sloan, Jill S., primary, Swerdlow, Anthony J., primary, Simon, Matthias, primary, Rajaraman, Preetha, primary, Chanock, Stephen J., primary, Shildkraut, Joellen, primary, Bernstein, Jonine L., primary, Hoffmann, Per, primary, Jöckel, Karl-Heinz, primary, Lai, Rose K., primary, Claus, Elizabeth B., primary, Olson, Sara H., primary, Johansen, Christoffer, primary, Wrensch, Margaret R., primary, Melin, Beatrice, primary, Jenkins, Robert B., primary, Sanson, Marc, primary, Bondy, Melissa L., primary, and Houlston, Richard S., primary

Published
2023
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36. Supplementary Table 6 from Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma

Author

Atkins, Isabelle, primary, Kinnersley, Ben, primary, Ostrom, Quinn T., primary, Labreche, Karim, primary, Il'yasova, Dora, primary, Armstrong, Georgina N., primary, Eckel-Passow, Jeanette E., primary, Schoemaker, Minouk J., primary, Nöthen, Markus M., primary, Barnholtz-Sloan, Jill S., primary, Swerdlow, Anthony J., primary, Simon, Matthias, primary, Rajaraman, Preetha, primary, Chanock, Stephen J., primary, Shildkraut, Joellen, primary, Bernstein, Jonine L., primary, Hoffmann, Per, primary, Jöckel, Karl-Heinz, primary, Lai, Rose K., primary, Claus, Elizabeth B., primary, Olson, Sara H., primary, Johansen, Christoffer, primary, Wrensch, Margaret R., primary, Melin, Beatrice, primary, Jenkins, Robert B., primary, Sanson, Marc, primary, Bondy, Melissa L., primary, and Houlston, Richard S., primary

Published
2023
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37. Supplementary Table 5 from Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma

Author

Atkins, Isabelle, primary, Kinnersley, Ben, primary, Ostrom, Quinn T., primary, Labreche, Karim, primary, Il'yasova, Dora, primary, Armstrong, Georgina N., primary, Eckel-Passow, Jeanette E., primary, Schoemaker, Minouk J., primary, Nöthen, Markus M., primary, Barnholtz-Sloan, Jill S., primary, Swerdlow, Anthony J., primary, Simon, Matthias, primary, Rajaraman, Preetha, primary, Chanock, Stephen J., primary, Shildkraut, Joellen, primary, Bernstein, Jonine L., primary, Hoffmann, Per, primary, Jöckel, Karl-Heinz, primary, Lai, Rose K., primary, Claus, Elizabeth B., primary, Olson, Sara H., primary, Johansen, Christoffer, primary, Wrensch, Margaret R., primary, Melin, Beatrice, primary, Jenkins, Robert B., primary, Sanson, Marc, primary, Bondy, Melissa L., primary, and Houlston, Richard S., primary

Published
2023
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38. Supplementary Figure 1 from A Variable Age of Onset Segregation Model for Linkage Analysis, with Correction for Ascertainment, Applied to Glioma

Author

Sun, Xiangqing, primary, Vengoechea, Jaime, primary, Elston, Robert, primary, Chen, Yanwen, primary, Amos, Christopher I., primary, Armstrong, Georgina, primary, Bernstein, Jonine L., primary, Claus, Elizabeth, primary, Davis, Faith, primary, Houlston, Richard S., primary, Il'yasova, Dora, primary, Jenkins, Robert B., primary, Johansen, Christoffer, primary, Lai, Rose, primary, Lau, Ching C., primary, Liu, Yanhong, primary, McCarthy, Bridget J., primary, Olson, Sara H., primary, Sadetzki, Siegal, primary, Schildkraut, Joellen, primary, Shete, Sanjay, primary, Yu, Robert, primary, Vick, Nicholas A., primary, Merrell, Ryan, primary, Wrensch, Margaret, primary, Yang, Ping, primary, Melin, Beatrice, primary, Bondy, Melissa L., primary, and Barnholtz-Sloan, Jill S., primary

Published
2023
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39. Supplementary Data from Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma

Author

Atkins, Isabelle, primary, Kinnersley, Ben, primary, Ostrom, Quinn T., primary, Labreche, Karim, primary, Il'yasova, Dora, primary, Armstrong, Georgina N., primary, Eckel-Passow, Jeanette E., primary, Schoemaker, Minouk J., primary, Nöthen, Markus M., primary, Barnholtz-Sloan, Jill S., primary, Swerdlow, Anthony J., primary, Simon, Matthias, primary, Rajaraman, Preetha, primary, Chanock, Stephen J., primary, Shildkraut, Joellen, primary, Bernstein, Jonine L., primary, Hoffmann, Per, primary, Jöckel, Karl-Heinz, primary, Lai, Rose K., primary, Claus, Elizabeth B., primary, Olson, Sara H., primary, Johansen, Christoffer, primary, Wrensch, Margaret R., primary, Melin, Beatrice, primary, Jenkins, Robert B., primary, Sanson, Marc, primary, Bondy, Melissa L., primary, and Houlston, Richard S., primary

Published
2023
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40. Supplementary Figure 2 from A Variable Age of Onset Segregation Model for Linkage Analysis, with Correction for Ascertainment, Applied to Glioma

Author

Sun, Xiangqing, primary, Vengoechea, Jaime, primary, Elston, Robert, primary, Chen, Yanwen, primary, Amos, Christopher I., primary, Armstrong, Georgina, primary, Bernstein, Jonine L., primary, Claus, Elizabeth, primary, Davis, Faith, primary, Houlston, Richard S., primary, Il'yasova, Dora, primary, Jenkins, Robert B., primary, Johansen, Christoffer, primary, Lai, Rose, primary, Lau, Ching C., primary, Liu, Yanhong, primary, McCarthy, Bridget J., primary, Olson, Sara H., primary, Sadetzki, Siegal, primary, Schildkraut, Joellen, primary, Shete, Sanjay, primary, Yu, Robert, primary, Vick, Nicholas A., primary, Merrell, Ryan, primary, Wrensch, Margaret, primary, Yang, Ping, primary, Melin, Beatrice, primary, Bondy, Melissa L., primary, and Barnholtz-Sloan, Jill S., primary

Published
2023
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41. Publisher Correction: Mendelian randomisation study of the relationship between vitamin D and risk of glioma

Author

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.

Published
2019
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42. The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women

Author

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

Subjects
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.

Published
2023

44. 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

Author

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

Subjects
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

Published
2021

46. Association of Common Genetic Variants With Contralateral Breast Cancer Risk in the WECARE Study

Author

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.

Published
2017
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48. Contralateral breast cancers: Independent cancers or metastases?

Author

Begg, Colin B., Ostrovnaya, Irina, Geyer, Felipe C., Papanastasiou, Anastasios D., Ng, Charlotte K.Y., Sakr, Rita A., Bernstein, Jonine L., Burke, Kathleen A., King, Tari A., Piscuoglio, Salvatore, Mauguen, Audrey, Orlow, Irene, Weigelt, Britta, Seshan, Venkatraman E., Morrow, Monica, and Reis‐Filho, Jorge S.

Published
2018
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50. Impact of atopy on risk of glioma: a Mendelian randomisation study

Author

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.

Published
2018
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