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1,180 results on '"Landi, Maria Teresa"'

1. mSigSDK -- private, at scale, computation of mutation signatures

Author: Ge, Aaron, Martins, Yasmmin Côrtes, Zhang, Tongwu, Chen, Kailing, Landi, Maria Teresa, Park, Brian, Balasubramanian, Jeya, and Almeida, Jonas S
Subjects: Quantitative Biology - Genomics
Abstract: In our previous work, we demonstrated that it is feasible to perform analysis on mutation signature data without the need for downloads or installations and analyze individual patient data at scale without compromising privacy. Building on this foundation, we developed a Software Development Kit (SDK) called mSigSDK to facilitate the orchestration of distributed data processing workflows and graphic visualization of mutational signature analysis results. We strictly adhered to modern web computing standards, particularly the modularization standards set by the ECMAScript ES6 framework (JavaScript modules). Our approach allows for computation to be entirely performed by secure delegation to the computational resources of the user's own machine (in-browser), without any downloads or installations. The mSigSDK was developed primarily as a companion library to the mSig Portal resource of the National Cancer Institute Division of Cancer Epidemiology and Genetics (NIH/NCI/DCEG), with a focus on its FAIR extensibility as components of other researchers' computational constructs. Anticipated extensions include the programmatic operation of other mutation signature API ecosystems such as SIGNAL and COSMIC, advancing towards a data commons for mutational signature research (Grossman et al., 2016).
Published: 2023

2. Impact of individual level uncertainty of lung cancer polygenic risk score (PRS) on risk stratification

Author: Wang, Xinan, Zhang, Ziwei, Ding, Yi, Chen, Tony, Mucci, Lorelei, Albanes, Demetrios, Landi, Maria Teresa, Caporaso, Neil E., Lam, Stephen, Tardon, Adonina, Chen, Chu, Bojesen, Stig E., Johansson, Mattias, Risch, Angela, Bickeböller, Heike, Wichmann, H-Erich, Rennert, Gadi, Arnold, Susanne, Brennan, Paul, McKay, James D., Field, John K., Shete, Sanjay S., Le Marchand, Loic, Liu, Geoffrey, Andrew, Angeline S., Kiemeney, Lambertus A., Zienolddiny-Narui, Shan, Behndig, Annelie, Johansson, Mikael, Cox, Angie, Lazarus, Philip, Schabath, Matthew B., Aldrich, Melinda C., Hung, Rayjean J., Amos, Christopher I., Lin, Xihong, and Christiani, David C.
Published: 2024
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3. Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions

Author: Lindström, Sara, Wang, Lu, Feng, Helian, Majumdar, Arunabha, Huo, Sijia, Macdonald, James, Harrison, Tabitha, Turman, Constance, Chen, Hongjie, Mancuso, Nicholas, Bammler, Theo, Consortium, Breast Cancer Association, Gallinger, Steve, Gruber, Stephen B, Gunter, Marc J, Le Marchand, Loic, Moreno, Victor, Offit, Kenneth, Study, Genetics And Epidemiology Of Colorectal Cancer Consortium Colorectal Transdisciplinary Study Colon Cancer Family Registry, De Vivo, Immaculata, O’Mara, Tracy A, Spurdle, Amanda B, Tomlinson, Ian, Consortium, Endometrial Cancer Association, Fitzgerald, Rebecca, Gharahkhani, Puya, Gockel, Ines, Jankowski, Janusz, Macgregor, Stuart, Schumacher, Johannes, Barnholtz-Sloan, Jill, Bondy, Melissa L, Houlston, Richard S, Jenkins, Robert B, Melin, Beatrice, Wrensch, Margaret, Brennan, Paul, Christiani, David C, Johansson, Mattias, Mckay, James, Aldrich, Melinda C, Amos, Christopher I, Landi, Maria Teresa, Tardon, Adonina, Consortium, International Lung Cancer, Bishop, D Timothy, Demenais, Florence, Goldstein, Alisa M, Iles, Mark M, Kanetsky, Peter A, Law, Matthew H, Consortium, Ovarian Cancer Association, Amundadottir, Laufey T, Stolzenberg-Solomon, Rachael, Wolpin, Brian M, Consortium, Pancreatic Cancer Cohort, Klein, Alison, Petersen, Gloria, Risch, Harvey, Consortium, The PRACTICAL Consortium Pancreatic Cancer Case-Control, Chanock, Stephen J, Purdue, Mark P, Scelo, Ghislaine, Pharoah, Paul, Kar, Siddhartha, Hung, Rayjean J, Pasaniuc, Bogdan, and Kraft, Peter
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Human Genome, Genetics, Digestive Diseases, Prevention, Clinical Research, Urologic Diseases, Cancer, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Male, Humans, Genome-Wide Association Study, Genetic Predisposition to Disease, Neoplasms, Risk Factors, Transcriptome, Polymorphism, Single Nucleotide, Breast Cancer Association Consortium, Colorectal Transdisciplinary Study (CORECT), Colon Cancer Family Registry Study (CCFR), Genetics And Epidemiology Of Colorectal Cancer Consortium, Endometrial Cancer Association Consortium, International Lung Cancer Consortium, Ovarian Cancer Association Consortium, Pancreatic Cancer Cohort Consortium, Pancreatic Cancer Case-Control Consortium (Panc4), The PRACTICAL Consortium, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract: BackgroundThe shared inherited genetic contribution to risk of different cancers is not fully known. In this study, we leverage results from 12 cancer genome-wide association studies (GWAS) to quantify pairwise genome-wide genetic correlations across cancers and identify novel cancer susceptibility loci.MethodsWe collected GWAS summary statistics for 12 solid cancers based on 376 759 participants with cancer and 532 864 participants without cancer of European ancestry. The included cancer types were breast, colorectal, endometrial, esophageal, glioma, head and neck, lung, melanoma, ovarian, pancreatic, prostate, and renal cancers. We conducted cross-cancer GWAS and transcriptome-wide association studies to discover novel cancer susceptibility loci. Finally, we assessed the extent of variant-specific pleiotropy among cancers at known and newly identified cancer susceptibility loci.ResultsWe observed widespread but modest genome-wide genetic correlations across cancers. In cross-cancer GWAS and transcriptome-wide association studies, we identified 15 novel cancer susceptibility loci. Additionally, we identified multiple variants at 77 distinct loci with strong evidence of being associated with at least 2 cancer types by testing for pleiotropy at known cancer susceptibility loci.ConclusionsOverall, these results suggest that some genetic risk variants are shared among cancers, though much of cancer heritability is cancer-specific and thus tissue-specific. The increase in statistical power associated with larger sample sizes in cross-disease analysis allows for the identification of novel susceptibility regions. Future studies incorporating data on multiple cancer types are likely to identify additional regions associated with the risk of multiple cancer types.
Published: 2023

4. Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population

Author: Shi, Jianxin, Shiraishi, Kouya, Choi, Jiyeon, Matsuo, Keitaro, Chen, Tzu-Yu, Dai, Juncheng, Hung, Rayjean J, Chen, Kexin, Shu, Xiao-Ou, Kim, Young Tae, Landi, Maria Teresa, Lin, Dongxin, Zheng, Wei, Yin, Zhihua, Zhou, Baosen, Song, Bao, Wang, Jiucun, Seow, Wei Jie, Song, Lei, Chang, I-Shou, Hu, Wei, Chien, Li-Hsin, Cai, Qiuyin, Hong, Yun-Chul, Kim, Hee Nam, Wu, Yi-Long, Wong, Maria Pik, Richardson, Brian Douglas, Funderburk, Karen M, Li, Shilan, Zhang, Tongwu, Breeze, Charles, Wang, Zhaoming, Blechter, Batel, Bassig, Bryan A, Kim, Jin Hee, Albanes, Demetrius, Wong, Jason YY, Shin, Min-Ho, Chung, Lap Ping, Yang, Yang, An, She-Juan, Zheng, Hong, Yatabe, Yasushi, Zhang, Xu-Chao, Kim, Young-Chul, Caporaso, Neil E, Chang, Jiang, Ho, James Chung Man, Kubo, Michiaki, Daigo, Yataro, Song, Minsun, Momozawa, Yukihide, Kamatani, Yoichiro, Kobayashi, Masashi, Okubo, Kenichi, Honda, Takayuki, Hosgood, Dean H, Kunitoh, Hideo, Patel, Harsh, Watanabe, Shun-ichi, Miyagi, Yohei, Nakayama, Haruhiko, Matsumoto, Shingo, Horinouchi, Hidehito, Tsuboi, Masahiro, Hamamoto, Ryuji, Goto, Koichi, Ohe, Yuichiro, Takahashi, Atsushi, Goto, Akiteru, Minamiya, Yoshihiro, Hara, Megumi, Nishida, Yuichiro, Takeuchi, Kenji, Wakai, Kenji, Matsuda, Koichi, Murakami, Yoshinori, Shimizu, Kimihiro, Suzuki, Hiroyuki, Saito, Motonobu, Ohtaki, Yoichi, Tanaka, Kazumi, Wu, Tangchun, Wei, Fusheng, Dai, Hongji, Machiela, Mitchell J, Su, Jian, Kim, Yeul Hong, Oh, In-Jae, Lee, Victor Ho Fun, Chang, Gee-Chen, Tsai, Ying-Huang, Chen, Kuan-Yu, Huang, Ming-Shyan, Su, Wu-Chou, Chen, Yuh-Min, Seow, Adeline, Park, Jae Yong, and Kweon, Sun-Seog
Subjects: Genetics, Cancer, Clinical Research, Human Genome, Prevention, Lung, Lung Cancer, Tobacco, Tobacco Smoke and Health, 2.1 Biological and endogenous factors, Aetiology, Respiratory, Humans, Genome-Wide Association Study, Genetic Predisposition to Disease, Adenocarcinoma of Lung, Asia, Eastern, Lung Neoplasms, Polymorphism, Single Nucleotide
Abstract: Lung adenocarcinoma is the most common type of lung cancer. Known risk variants explain only a small fraction of lung adenocarcinoma heritability. Here, we conducted a two-stage genome-wide association study of lung adenocarcinoma of East Asian ancestry (21,658 cases and 150,676 controls; 54.5% never-smokers) and identified 12 novel susceptibility variants, bringing the total number to 28 at 25 independent loci. Transcriptome-wide association analyses together with colocalization studies using a Taiwanese lung expression quantitative trait loci dataset (n = 115) identified novel candidate genes, including FADS1 at 11q12 and ELF5 at 11p13. In a multi-ancestry meta-analysis of East Asian and European studies, four loci were identified at 2p11, 4q32, 16q23, and 18q12. At the same time, most of our findings in East Asian populations showed no evidence of association in European populations. In our studies drawn from East Asian populations, a polygenic risk score based on the 25 loci had a stronger association in never-smokers vs. individuals with a history of smoking (Pinteraction = 0.0058). These findings provide new insights into the etiology of lung adenocarcinoma in individuals from East Asian populations, which could be important in developing translational applications.
Published: 2023

5. Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor

Author: Islam, SM Ashiqul, Díaz-Gay, Marcos, Wu, Yang, Barnes, Mark, Vangara, Raviteja, Bergstrom, Erik N, He, Yudou, Vella, Mike, Wang, Jingwei, Teague, Jon W, Clapham, Peter, Moody, Sarah, Senkin, Sergey, Li, Yun Rose, Riva, Laura, Zhang, Tongwu, Gruber, Andreas J, Steele, Christopher D, Otlu, Burçak, Khandekar, Azhar, Abbasi, Ammal, Humphreys, Laura, Syulyukina, Natalia, Brady, Samuel W, Alexandrov, Boian S, Pillay, Nischalan, Zhang, Jinghui, Adams, David J, Martincorena, Iñigo, Wedge, David C, Landi, Maria Teresa, Brennan, Paul, Stratton, Michael R, Rozen, Steven G, and Alexandrov, Ludmil B
Subjects: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Tobacco Smoke and Health, Human Genome, Cancer, Prevention, Tobacco, Good Health and Well Being, cancer genomics, genomics, mutagenesis, mutational signatures
Abstract: Mutational signature analysis is commonly performed in cancer genomic studies. Here, we present SigProfilerExtractor, an automated tool for de novo extraction of mutational signatures, and benchmark it against another 13 bioinformatics tools by using 34 scenarios encompassing 2,500 simulated signatures found in 60,000 synthetic genomes and 20,000 synthetic exomes. For simulations with 5% noise, reflecting high-quality datasets, SigProfilerExtractor outperforms other approaches by elucidating between 20% and 50% more true-positive signatures while yielding 5-fold less false-positive signatures. Applying SigProfilerExtractor to 4,643 whole-genome- and 19,184 whole-exome-sequenced cancers reveals four novel signatures. Two of the signatures are confirmed in independent cohorts, and one of these signatures is associated with tobacco smoking. In summary, this report provides a reference tool for analysis of mutational signatures, a comprehensive benchmarking of bioinformatics tools for extracting signatures, and several novel mutational signatures, including one putatively attributed to direct tobacco smoking mutagenesis in bladder tissues.
Published: 2022

6. Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.

Author: Byun, Jinyoung, Han, Younghun, Li, Yafang, Xia, Jun, Long, Erping, Choi, Jiyeon, Xiao, Xiangjun, Zhu, Meng, Zhou, Wen, Sun, Ryan, Bossé, Yohan, Song, Zhuoyi, Schwartz, Ann, Lusk, Christine, Rafnar, Thorunn, Stefansson, Kari, Zhang, Tongwu, Zhao, Wei, Pettit, Rowland W, Liu, Yanhong, Li, Xihao, Zhou, Hufeng, Walsh, Kyle M, Gorlov, Ivan, Gorlova, Olga, Zhu, Dakai, Rosenberg, Susan M, Pinney, Susan, Bailey-Wilson, Joan E, Mandal, Diptasri, de Andrade, Mariza, Gaba, Colette, Willey, James C, You, Ming, Anderson, Marshall, Wiencke, John K, Albanes, Demetrius, Lam, Stephan, Tardon, Adonina, Chen, Chu, Goodman, Gary, Bojeson, Stig, Brenner, Hermann, Landi, Maria Teresa, Chanock, Stephen J, Johansson, Mattias, Muley, Thomas, Risch, Angela, Wichmann, H-Erich, Bickeböller, Heike, Christiani, David C, Rennert, Gad, Arnold, Susanne, Field, John K, Shete, Sanjay, Le Marchand, Loic, Melander, Olle, Brunnstrom, Hans, Liu, Geoffrey, Andrew, Angeline S, Kiemeney, Lambertus A, Shen, Hongbing, Zienolddiny, Shanbeh, Grankvist, Kjell, Johansson, Mikael, Caporaso, Neil, Cox, Angela, Hong, Yun-Chul, Yuan, Jian-Min, Lazarus, Philip, Schabath, Matthew B, Aldrich, Melinda C, Patel, Alpa, Lan, Qing, Rothman, Nathaniel, Taylor, Fiona, Kachuri, Linda, Witte, John S, Sakoda, Lori C, Spitz, Margaret, Brennan, Paul, Lin, Xihong, McKay, James, Hung, Rayjean J, and Amos, Christopher I
Subjects: Humans, Lung Neoplasms, Genetic Predisposition to Disease, RNA-Binding Proteins, DNA-Binding Proteins, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study, Human Genome, Cancer, Genetics, Lung, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract: To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loci that have not been previously reported. We replicated 26 signals and identified 10 new lead associations from previously reported loci. Rare-variant associations tended to be specific to populations, but even common-variant associations influencing smoking behavior, such as those with CHRNA5 and CYP2A6, showed population specificity. Fine-mapping and expression quantitative trait locus colocalization nominated several candidate variants and susceptibility genes such as IRF4 and FUBP1. DNA damage assays of prioritized genes in lung fibroblasts indicated that a subset of these genes, including the pleiotropic gene IRF4, potentially exert effects by promoting endogenous DNA damage.
Published: 2022

7. Genetic variants for smoking behaviour and risk of skin cancer

Author: Dusingize, Jean Claude, Law, Matthew H., Seviiri, Mathias, Olsen, Catherine M., Pandeya, Nirmala, Landi, Maria Teresa, Iles, Mark M., Neale, Rachel E., Ong, Jue-Sheng, MacGregor, Stuart, and Whiteman, David C.
Published: 2023
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8. Uncovering the complex relationship between balding, testosterone and skin cancers in men

Author: Ong, Jue-Sheng, Seviiri, Mathias, Dusingize, Jean Claude, Wu, Yeda, Han, Xikun, Shi, Jianxin, Olsen, Catherine M., Neale, Rachel E., Thompson, John F., Saw, Robyn P. M., Shannon, Kerwin F., Mann, Graham J., Martin, Nicholas G., Medland, Sarah E., Gordon, Scott D., Scolyer, Richard A., Long, Georgina V., Iles, Mark M., Landi, Maria Teresa, Whiteman, David C., MacGregor, Stuart, and Law, Matthew H.
Published: 2023
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9. Accounting for EGFR mutations in epidemiological analyses of non-small cell lung cancers: Examples based on the International Lung Cancer Consortium data

Author: Schmid, Sabine, Jiang, Mei, Brown, M Catherine, Fares, Aline, Garcia, Miguel, Soriano, Joelle, Dong, Mei, Thomas, Sera, Kohno, Takashi, Leal, Leticia Ferro, Diao, Nancy, Xie, Juntao, Wang, Zhichao, Zaridze, David, Holcatova, Ivana, Lissowska, Jolanta, Świątkowska, Beata, Mates, Dana, Savic, Milan, Wenzlaff, Angela S, Harris, Curtis C, Caporaso, Neil E, Ma, Hongxia, Fernandez-Tardon, Guillermo, Barnett, Matthew J, Goodman, Gary, Davies, Michael PA, Pérez-Ríos, Mónica, Taylor, Fiona, Duell, Eric J, Schoettker, Ben, Brenner, Hermann, Andrew, Angeline, Cox, Angela, Ruano-Ravina, Alberto, Field, John K, Marchand, Loic Le, Wang, Ying, Chen, Chu, Tardon, Adonina, Shete, Sanjay, Schabath, Matthew B, Shen, Hongbing, Landi, Maria Teresa, Ryan, Brid M, Schwartz, Ann G, Qi, Lihong, Sakoda, Lori C, Brennan, Paul, Yang, Ping, Zhang, Jie, Christiani, David C, Reis, Rui Manuel, Shiraishi, Kouya, Hung, Rayjean J, Xu, Wei, and Liu, Geoffrey
Subjects: Lung, Lung Cancer, Cancer, Prevention, Carcinoma, Non-Small-Cell Lung, ErbB Receptors, Humans, Lung Neoplasms, Mutation, Survival Analysis, Medical and Health Sciences, Epidemiology
Abstract: BackgroundSomatic EGFR mutations define a subset of non-small cell lung cancers (NSCLC) that have clinical impact on NSCLC risk and outcome. However, EGFR-mutation-status is often missing in epidemiologic datasets. We developed and tested pragmatic approaches to account for EGFR-mutation-status based on variables commonly included in epidemiologic datasets and evaluated the clinical utility of these approaches.MethodsThrough analysis of the International Lung Cancer Consortium (ILCCO) epidemiologic datasets, we developed a regression model for EGFR-status; we then applied a clinical-restriction approach using the optimal cut-point, and a second epidemiologic, multiple imputation approach to ILCCO survival analyses that did and did not account for EGFR-status.ResultsOf 35,356 ILCCO patients with NSCLC, EGFR-mutation-status was available in 4,231 patients. A model regressing known EGFR-mutation-status on clinical and demographic variables achieved a concordance index of 0.75 (95% CI, 0.74-0.77) in the training and 0.77 (95% CI, 0.74-0.79) in the testing dataset. At an optimal cut-point of probability-score = 0.335, sensitivity = 69% and specificity = 72.5% for determining EGFR-wildtype status. In both restriction-based and imputation-based regression analyses of the individual roles of BMI on overall survival of patients with NSCLC, similar results were observed between overall and EGFR-mutation-negative cohort analyses of patients of all ancestries. However, our approach identified some differences: EGFR-mutated Asian patients did not incur a survival benefit from being obese, as observed in EGFR-wildtype Asian patients.ConclusionsWe introduce a pragmatic method to evaluate the potential impact of EGFR-status on epidemiological analyses of NSCLC.ImpactThe proposed method is generalizable in the common occurrence in which EGFR-status data are missing.
Published: 2022

10. Lung Cancer Risks Associated with Occupational Exposure to Pairs of Five Lung Carcinogens: Results from a Pooled Analysis of Case-Control Studies (SYNERGY)

Author: Olsson, Ann, Bouaoun, Liacine, Schuz, Joachim, Vermeulen, Roel, Behrens, Thomas, Ge, Calvin, Kromhout, Hans, Siemiatycki, Jack, Gustavsson, Per, Boffetta, Paolo, Kendzia, Benjamin, Radoi, Loredana, Barul, Christine, Karrasch, Stefan, Wichmann, Heinz-Erich, Consonni, Dario, Landi, Maria Teresa, Caporaso, Neil E., Merletti, Franco, Migliore, Enrica, Richiardi, Lorenzo, Jockel, Karl-Heinz, Ahrens, Wolfgang, Pohlabeln, Hermann, Fernandez-Tardon, Guillermo, Zaridze, David, Field, John K., Lissowska, Jolanta, Swiatkowska, Beata, McLaughlin, John R., Demers, Paul A., Schejbalova, Miriam, Foretova, Lenka, Janout, Vladimir, Pandics, Tamas, Fabianova, Eleonora, Mates, Dana, Forastiere, Francesco, Straif, Kurt, Bruning, Thomas, Vlaanderen, Jelle, and Peters, Susan
Subjects: Smoking -- Research -- Risk factors, Lung cancer -- Research -- Risk factors, Polycyclic aromatic hydrocarbons -- Research, Silica -- Research, Cigarettes -- Research, Environmental issues, Health
Abstract: Background: While much research has been done to identify individual workplace lung carcinogens, little is known about joint effects on risk when workers are exposed to multiple agents. Objectives: We investigated the pairwise joint effects of occupational exposures to asbestos, respirable crystalline silica, metals (i.e., nickel, chromium-VI), and polycyclic aromatic hydrocarbons (PAH) on lung cancer risk, overall and by major histologic subtype, while accounting for cigarette smoking. Methods: In the international 14-center SYNERGY project, occupational exposures were assigned to 16,901 lung cancer cases and 20,965 control subjects using a quantitative job-exposure matrix (SYN-JEM). Odds ratios (ORs) and 95% confidence intervals (CIs) were computed for ever vs. never exposure using logistic regression models stratified by sex and adjusted for study center, age, and smoking habits. Joint effects among pairs of agents were assessed on multiplicative and additive scales, the latter by calculating the relative excess risk due to interaction (RERI). Results: All pairwise joint effects of lung carcinogens in men were associated with an increased risk of lung cancer. However, asbestos/metals and metals/PAH resulted in less than additive effects; while the chromium-VI/silica pair showed marginally synergistic effect in relation to adenocarcinoma (RERI: 0.24; CI: 0.02, 0.46; p = 0.05). In women, several pairwise joint effects were observed for small cell lung cancer including exposure to PAH/silica (OR = 5.12; CI: 1.77, 8.48), and to asbestos/silica (OR = 4.32; CI: 1.35, 7.29), where exposure to PAH/silica resulted in a synergistic effect (RERI: 3.45; CI: 0.10, 6.8). Discussion: Small or no deviation from additive or multiplicative effects was observed, but co-exposure to the selected lung carcinogens resulted generally in higher risk than exposure to individual agents, highlighting the importance to reduce and control exposure to carcinogens in workplaces and the general environment. https://doi.org/10.1289/EHP13380, Introduction Occupational carcinogens represent a significant threat on worker's health, and exposed workers may be (simultaneously) exposed to more than one carcinogen. The European CAREX project estimated that 23% of [...]
Published: 2024
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11. Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis

Author: Landi, Maria Teresa, Stevens, Victoria, Wang, Ying, Albanes, Demetrios, Caporaso, Neil, Brennan, Paul, Amos, Christopher I., Shete, Sanjay, Hung, Rayjean J., Bickeböller, Heike, Risch, Angela, Houlston, Richard, Lam, Stephen, Tardon, Adonina, Chen, Chu, Bojesen, Stig E., Johansson, Mattias, Wichmann, H-Erich, Christiani, David, Rennert, Gadi, Arnold, Susanne, Field, John K., Le Marchand, Loic, Melander, Olle, Brunnström, Hans, Liu, Geoffrey, Andrew, Angeline, Kiemeney, Lambertus A., Shen, Hongbing, Zienolddiny, Shan, Grankvist, Kjell, Johansson, Mikael, Teare, M. Dawn, Hong, Yun-Chul, Yuan, Jian-Min, Lazarus, Philip, Schabath, Matthew B., Aldrich, Melinda C., Eeles, Rosalind A., Haiman, Christopher A., Kote-Jarai, Zsofia, Schumacher, Fredrick R., Benlloch, Sara, Al Olama, Ali Amin, Muir, Kenneth R., Berndt, Sonja I., Conti, David V., Wiklund, Fredrik, Chanock, Stephen, Tangen, Catherine M., Batra, Jyotsna, Clements, Judith A., Grönberg, Henrik, Pashayan, Nora, Schleutker, Johanna, Albanes, Demetrius, Weinstein, Stephanie J., Wolk, Alicja, West, Catharine M.L., Mucci, Lorelei A., Cancel-Tassin, Géraldine, Koutros, Stella, Sørensen, Karina Dalsgaard, Grindedal, Eli Marie, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Travis, Ruth C., Hamilton, Robert J., Ingles, Sue Ann, Rosenstein, Barry S., Lu, Yong-Jie, Giles, Graham G., MacInnis, Robert J., Kibel, Adam S., Vega, Ana, Kogevinas, Manolis, Penney, Kathryn L., Park, Jong Y., Stanfrod, Janet L., Cybulski, Cezary, Nordestgaard, Børge G., Nielsen, Sune F., Brenner, Hermann, Maier, Christiane, Logothetis, Christopher J., John, Esther M., Teixeira, Manuel R., Neuhausen, Susan L., De Ruyck, Kim, Razack, Azad, Newcomb, Lisa F., Lessel, Davor, Kaneva, Radka, Usmani, Nawaid, Claessens, Frank, Townsend, Paul A., Castelao, Jose Esteban, Roobol, Monique J., Menegaux, Florence, Khaw, Kay-Tee, Cannon-Albright, Lisa, Pandha, Hardev, Thibodeau, Stephen N., Hunter, David J., Kraft, Peter, Blot, William J., Riboli, Elio, Yarmolinsky, James, Robinson, Jamie W., Mariosa, Daniela, Karhunen, Ville, Huang, Jian, Dimou, Niki, Murphy, Neil, Burrows, Kimberley, Bouras, Emmanouil, Smith-Byrne, Karl, Lewis, Sarah J., Galesloot, Tessel E., Vermeulen, Sita, Martin, Paul, Hou, Lifang, Newcomb, Polly A., White, Emily, Wu, Anna H., Le Marchand, Loïc, Phipps, Amanda I., Buchanan, Daniel D., Zhao, Sizheng Steven, Gill, Dipender, Chanock, Stephen J., Purdue, Mark P., Davey Smith, George, Herzig, Karl-Heinz, Järvelin, Marjo-Riitta, Amos, Chris I., Dehghan, Abbas, Gunter, Marc J., Tsilidis, Kostas K., and Martin, Richard M.
Published: 2024
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12. Association between duration of smoking abstinence before non-small-cell lung cancer diagnosis and survival: a retrospective, pooled analysis of cohort studies

Author: Fares, Aline F, Li, Yao, Jiang, Mei, Brown, M Catherine, Lam, Andrew C L, Aggarwal, Reenika, Schmid, Sabine, Leighl, Natasha B, Shepherd, Frances A, Wang, Zhichao, Diao, Nancy, Wenzlaff, Angela S, Xie, Juntao, Kohno, Takashi, Caporaso, Neil E, Harris, Curtis, Ma, Hongxia, Barnett, Matthew J, Leal, Leticia Ferro, Fernandez-Tardon, G, Pérez-Ríos, Mónica, Davies, Michael P A, Taylor, Fiona, Schöttker, Ben, Brennan, Paul, Zaridze, David, Holcatova, Ivana, Lissowska, Jolanta, Świątkowska, Beata, Mates, Dana, Savic, Milan, Brenner, Hermann, Andrew, Angeline, Cox, Angela, Field, John K, Ruano-Ravina, Alberto, Shete, Sanjay S, Tardon, Adonina, Wang, Ying, Le Marchand, Loic, Reis, Rui Manuel, Schabath, Matthew B, Chen, Chu, Shen, Hongbing, Ryan, Brid M, Landi, Maria Teresa, Shiraishi, Kouya, Zhang, Jie, Schwartz, Ann G, Tsao, Ming S, Christiani, David C, Yang, Ping, Hung, Rayjean J, Xu, Wei, and Liu, Geoffrey
Published: 2023
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13. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.

Author: Zhang, Yan Dora, Hurson, Amber N, Zhang, Haoyu, Choudhury, Parichoy Pal, Easton, Douglas F, Milne, Roger L, Simard, Jacques, Hall, Per, Michailidou, Kyriaki, Dennis, Joe, Schmidt, Marjanka K, Chang-Claude, Jenny, Gharahkhani, Puya, Whiteman, David, Campbell, Peter T, Hoffmeister, Michael, Jenkins, Mark, Peters, Ulrike, Hsu, Li, Gruber, Stephen B, Casey, Graham, Schmit, Stephanie L, O'Mara, Tracy A, Spurdle, Amanda B, Thompson, Deborah J, Tomlinson, Ian, De Vivo, Immaculata, Landi, Maria Teresa, Law, Matthew H, Iles, Mark M, Demenais, Florence, Kumar, Rajiv, MacGregor, Stuart, Bishop, D Timothy, Ward, Sarah V, Bondy, Melissa L, Houlston, Richard, Wiencke, John K, Melin, Beatrice, Barnholtz-Sloan, Jill, Kinnersley, Ben, Wrensch, Margaret R, Amos, Christopher I, Hung, Rayjean J, Brennan, Paul, McKay, James, Caporaso, Neil E, Berndt, Sonja I, Birmann, Brenda M, Camp, Nicola J, Kraft, Peter, Rothman, Nathaniel, Slager, Susan L, Berchuck, Andrew, Pharoah, Paul DP, Sellers, Thomas A, Gayther, Simon A, Pearce, Celeste L, Goode, Ellen L, Schildkraut, Joellen M, Moysich, Kirsten B, Amundadottir, Laufey T, Jacobs, Eric J, Klein, Alison P, Petersen, Gloria M, Risch, Harvey A, Stolzenberg-Solomon, Rachel Z, Wolpin, Brian M, Li, Donghui, Eeles, Rosalind A, Haiman, Christopher A, Kote-Jarai, Zsofia, Schumacher, Fredrick R, Al Olama, Ali Amin, Purdue, Mark P, Scelo, Ghislaine, Dalgaard, Marlene D, Greene, Mark H, Grotmol, Tom, Kanetsky, Peter A, McGlynn, Katherine A, Nathanson, Katherine L, Turnbull, Clare, Wiklund, Fredrik, Breast Cancer Association Consortium (BCAC), Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON), Colon Cancer Family Registry (CCFR), Transdisciplinary Studies of Genetic Variation in Colorectal Cancer (CORECT), Endometrial Cancer Association Consortium (ECAC), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Melanoma Genetics Consortium (GenoMEL), Glioma International Case-Control Study (GICC), International Lung Cancer Consortium (ILCCO), Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Consortium, International Consortium of Investigators Working on Non-Hodgkin’s Lymphoma Epidemiologic Studies (InterLymph), Ovarian Cancer Association Consortium (OCAC), Oral Cancer GWAS, Pancreatic Cancer Case-Control Consortium (PanC4), Pancreatic Cancer Cohort Consortium (PanScan), and Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL)
Subjects: Breast Cancer Association Consortium, Barrett’s and Esophageal Adenocarcinoma Consortium, Colon Cancer Family Registry, Transdisciplinary Studies of Genetic Variation in Colorectal Cancer, Endometrial Cancer Association Consortium, Genetics and Epidemiology of Colorectal Cancer Consortium, Melanoma Genetics Consortium, Glioma International Case-Control Study, International Lung Cancer Consortium, Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Consortium, International Consortium of Investigators Working on Non-Hodgkin’s Lymphoma Epidemiologic Studies, Ovarian Cancer Association Consortium, Oral Cancer GWAS, Pancreatic Cancer Case-Control Consortium, Pancreatic Cancer Cohort Consortium, Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome, Renal Cancer GWAS, Testicular Cancer Consortium, Animals, Humans, Neoplasms, Genetic Predisposition to Disease, Incidence, Risk Assessment, Risk Factors, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Models, Genetic, Female, Male, Genome-Wide Association Study, Human Genome, Prevention, Cancer, Prostate Cancer, Genetics, Urologic Diseases, 2.1 Biological and endogenous factors
Abstract: Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across fourteen cancer sites to estimate the number of common susceptibility variants (polygenicity) and underlying effect-size distribution. All cancers show a high degree of polygenicity, involving at a minimum of thousands of loci. We project that sample sizes required to explain 80% of GWAS heritability vary from 60,000 cases for testicular to over 1,000,000 cases for lung cancer. The maximum relative risk achievable for subjects at the 99th risk percentile of underlying polygenic risk scores (PRS), compared to average risk, ranges from 12 for testicular to 2.5 for ovarian cancer. We show that PRS have potential for risk stratification for cancers of breast, colon and prostate, but less so for others because of modest heritability and lower incidence.
Published: 2020

14. Immune-mediated genetic pathways resulting in pulmonary function impairment increase lung cancer susceptibility.

Author: Kachuri, Linda, Johansson, Mattias, Rashkin, Sara R, Graff, Rebecca E, Bossé, Yohan, Manem, Venkata, Caporaso, Neil E, Landi, Maria Teresa, Christiani, David C, Vineis, Paolo, Liu, Geoffrey, Scelo, Ghislaine, Zaridze, David, Shete, Sanjay S, Albanes, Demetrius, Aldrich, Melinda C, Tardón, Adonina, Rennert, Gad, Chen, Chu, Goodman, Gary E, Doherty, Jennifer A, Bickeböller, Heike, Field, John K, Davies, Michael P, Dawn Teare, M, Kiemeney, Lambertus A, Bojesen, Stig E, Haugen, Aage, Zienolddiny, Shanbeh, Lam, Stephen, Le Marchand, Loïc, Cheng, Iona, Schabath, Matthew B, Duell, Eric J, Andrew, Angeline S, Manjer, Jonas, Lazarus, Philip, Arnold, Susanne, McKay, James D, Emami, Nima C, Warkentin, Matthew T, Brhane, Yonathan, Obeidat, Ma'en, Martin, Richard M, Relton, Caroline, Davey Smith, George, Haycock, Philip C, Amos, Christopher I, Brennan, Paul, Witte, John S, and Hung, Rayjean J
Subjects: Lung, Humans, Lung Neoplasms, Genetic Predisposition to Disease, Respiratory Function Tests, Vital Capacity, Forced Expiratory Volume, Prospective Studies, Phenotype, Polymorphism, Single Nucleotide, Adult, Aged, Middle Aged, Female, Male, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide
Abstract: Impaired lung function is often caused by cigarette smoking, making it challenging to disentangle its role in lung cancer susceptibility. Investigation of the shared genetic basis of these phenotypes in the UK Biobank and International Lung Cancer Consortium (29,266 cases, 56,450 controls) shows that lung cancer is genetically correlated with reduced forced expiratory volume in one second (FEV1: rg = 0.098, p = 2.3 × 10-8) and the ratio of FEV1 to forced vital capacity (FEV1/FVC: rg = 0.137, p = 2.0 × 10-12). Mendelian randomization analyses demonstrate that reduced FEV1 increases squamous cell carcinoma risk (odds ratio (OR) = 1.51, 95% confidence intervals: 1.21-1.88), while reduced FEV1/FVC increases the risk of adenocarcinoma (OR = 1.17, 1.01-1.35) and lung cancer in never smokers (OR = 1.56, 1.05-2.30). These findings support a causal role of pulmonary impairment in lung cancer etiology. Integrative analyses reveal that pulmonary function instruments, including 73 novel variants, influence lung tissue gene expression and implicate immune-related pathways in mediating the observed effects on lung carcinogenesis.
Published: 2020

15. Proceedings of the fifth international Molecular Pathological Epidemiology (MPE) meeting

Author: Yao, Song, Campbell, Peter T., Ugai, Tomotaka, Gierach, Gretchen, Abubakar, Mustapha, Adalsteinsson, Viktor, Almeida, Jonas, Brennan, Paul, Chanock, Stephen, Golub, Todd, Hanash, Samir, Harris, Curtis, Hathaway, Cassandra A., Kelsey, Karl, Landi, Maria Teresa, Mahmood, Faisal, Newton, Christina, Quackenbush, John, Rodig, Scott, Schultz, Nikolaus, Tearney, Guillermo, Tworoger, Shelley S., Wang, Molin, Zhang, Xuehong, Garcia-Closas, Montserrat, Rebbeck, Timothy R., Ambrosone, Christine B., and Ogino, Shuji
Published: 2022
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16. Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

Author: Brown, Kevin M., Xu, Mai, Sargen, Michael, Jang, Hyunbum, Zhang, Mingzhen, Zhang, Tongwu, Zhu, Bin, Jones, Kristie, Kim, Jung, Mendoza, Laura, Hayward, Nicholas K., Tucker, Margaret A., Goldstein, Alisa M., Yang, Xiaohong Rose, Stewart, Douglas R., Hicks, Belynda, Consonni, Dario, Pesatori, Angela C., Fargnoli, Maria Concetta, Peris, Ketty, Stratigos, Alex, Menin, Chiara, Ghiorzo, Paola, Puig, Susana, Nagore, Eduardo, Andresson, Thorkell, Nussinov, Ruth, Calista, Donato, and Landi, Maria Teresa
Published: 2022
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17. Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5p15.33 TERT-CLPTM1Ll Region

Author: Hung, Rayjean J, Spitz, Margaret R, Houlston, Richard S, Schwartz, Ann G, Field, John K, Ying, Jun, Li, Yafang, Han, Younghun, Ji, Xuemei, Chen, Wei, Wu, Xifeng, Gorlov, Ivan P, Na, Jie, de Andrade, Mariza, Liu, Geoffrey, Brhane, Yonathan, Diao, Nancy, Wenzlaff, Angela, Davies, Michael PA, Liloglou, Triantafillos, Timofeeva, Maria, Muley, Thomas, Rennert, Hedy, Saliba, Walid, Ryan, Bríd M, Bowman, Elise, Barros-Dios, Juan-Miguel, Pérez-Ríos, Mónica, Morgenstern, Hal, Zienolddiny, Shanbeh, Skaug, Vidar, Ugolini, Donatella, Bonassi, Stefano, van der Heijden, Erik HFM, Tardon, Adonina, Bojesen, Stig E, Landi, Maria Teresa, Johansson, Mattias, Bickeböller, Heike, Arnold, Susanne, Le Marchand, Loic, Melander, Olle, Andrew, Angeline, Grankvist, Kjell, Caporaso, Neil, Teare, M Dawn, Schabath, Matthew B, Aldrich, Melinda C, Kiemeney, Lambertus A, Wichmann, H-Erich, Lazarus, Philip, Mayordomo, Jose, Neri, Monica, Haugen, Aage, Zhang, Zuo-Feng, Ruano-Raviña, Alberto, Brenner, Hermann, Harris, Curtis C, Orlow, Irene, Rennert, Gadi, Risch, Angela, Brennan, Paul, Christiani, David C, Amos, Christopher I, Yang, Ping, and Gorlova, Olga Y
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Human Genome, Lung Cancer, Tobacco, Prevention, Cancer, Genetics, Clinical Research, Tobacco Smoke and Health, Lung, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Case-Control Studies, Chromosomes, Human, Pair 5, Europe, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotyping Techniques, Humans, Lung Neoplasms, Membrane Proteins, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Telomerase, Lung cancer, Never smokers, Genome-wide association study, Genetic susceptibility, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract: IntroductionInherited susceptibility to lung cancer risk in never-smokers is poorly understood. The major reason for this gap in knowledge is that this disease is relatively uncommon (except in Asians), making it difficult to assemble an adequate study sample. In this study we conducted a genome-wide association study on the largest, to date, set of European-descent never-smokers with lung cancer.MethodsWe conducted a two-phase (discovery and replication) genome-wide association study in never-smokers of European descent. We further augmented the sample by performing a meta-analysis with never-smokers from the recent OncoArray study, which resulted in a total of 3636 cases and 6295 controls. We also compare our findings with those in smokers with lung cancer.ResultsWe detected three genome-wide statistically significant single nucleotide polymorphisms rs31490 (odds ratio [OR]: 0.769, 95% confidence interval [CI]: 0.722-0.820; p value 5.31 × 10-16), rs380286 (OR: 0.770, 95% CI: 0.723-0.820; p value 4.32 × 10-16), and rs4975616 (OR: 0.778, 95% CI: 0.730-0.829; p value 1.04 × 10-14). All three mapped to Chromosome 5 CLPTM1L-TERT region, previously shown to be associated with lung cancer risk in smokers and in never-smoker Asian women, and risk of other cancers including breast, ovarian, colorectal, and prostate.ConclusionsWe found that genetic susceptibility to lung cancer in never-smokers is associated to genetic variants with pan-cancer risk effects. The comparison with smokers shows that top variants previously shown to be associated with lung cancer risk only confer risk in the presence of tobacco exposure, underscoring the importance of gene-environment interactions in the etiology of this disease.
Published: 2019

18. MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

Author: Pellegrini, Cristina, Botta, Francesca, Massi, Daniela, Martorelli, Claudia, Facchetti, Fabio, Gandini, Sara, Maisonneuve, Patrick, Avril, Marie-Françoise, Demenais, Florence, Paillerets, Brigitte Bressac-de, Hoiom, Veronica, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Marrett, Loraine, Zanetti, Roberto, Dwyer, Terence, Thomas, Nancy E, Begg, Colin B, Berwick, Marianne, Puig, Susana, Potrony, Miriam, Nagore, Eduardo, Ghiorzo, Paola, Menin, Chiara, Manganoni, Ausilia Maria, Rodolfo, Monica, Brugnara, Sonia, Passoni, Emanuela, Sekulovic, Lidija Kandolf, Baldini, Federica, Guida, Gabriella, Stratigos, Alexandros, Ozdemir, Fezal, Ayala, Fabrizio, Fernandez-de-Misa, Ricardo, Quaglino, Pietro, Ribas, Gloria, Romanini, Antonella, Migliano, Emilia, Stanganelli, Ignazio, Kanetsky, Peter A, Pizzichetta, Maria Antonietta, García-Borrón, Jose Carlos, Nan, Hongmei, Landi, Maria Teresa, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, Fargnoli, Maria Concetta, Raimondi, Sara, Group, IMI Study, Alaibac, Mauro, Ferrari, Andrea, Valeri, Barbara, Sicher, Mariacristina, Mangiola, Daniela, Nazzaro, Gianluca, Tosti, Giulio, Mazzarol, Giovanni, Giudice, Giuseppe, Ribero, Simone, Astrua, Chiara, Mazzoni, Laura, Group, GEM Study, Orlow, Irene, Mujumdar, Urvi, Hummer, Amanda, Busam, Klaus, Roy, Pampa, Canchola, Rebecca, Clas, Brian, Cotignola, Javiar, Monroe, Yvette, Armstrong, Bruce, Kricker, Anne, Litchfield, Melisa, Tucker, Paul, Stephens, Nicola, Switzer, Teresa, Theis, Beth, From, Lynn, Chowdhury, Noori, Vanasse, Louise, Purdue, Mark, Northrup, David, Rosso, Stefano, Sacerdote, Carlotta, Leighton, Nancy, Gildea, Maureen, Bonner, Joe, Jeter, Joanne, Klotz, Judith, Wilcox, Homer, Weiss, Helen, Millikan, Robert, Mattingly, Dianne, and Player, Jon
Subjects: Clinical Research, Pediatric, Genetics, Prevention, Cancer, Adolescent, Adult, Aged, Biomarkers, Tumor, Case-Control Studies, Child, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Logistic Models, Male, Melanoma, Middle Aged, Odds Ratio, Polymorphism, Genetic, Receptor, Melanocortin, Type 1, Retrospective Studies, Skin Neoplasms, IMI Study Group, GEM Study Group, M-SKIP Study Group
Abstract: BackgroundGermline variants in the melanocortin 1 receptor gene (MC1R) might increase the risk of childhood and adolescent melanoma, but a clear conclusion is challenging because of the low number of studies and cases. We assessed the association of MC1R variants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1R variants in child or adolescent patients with melanoma to that in adult patients with melanoma and in healthy adult controls.MethodsIn this retrospective pooled analysis, we used the M-SKIP Project, the Italian Melanoma Intergroup, and other European groups (with participants from Australia, Canada, France, Greece, Italy, the Netherlands, Serbia, Spain, Sweden, Turkey, and the USA) to assemble an international multicentre cohort. We gathered phenotypic and genetic data from children or adolescents diagnosed with sporadic single-primary cutaneous melanoma at age 20 years or younger, adult patients with sporadic single-primary cutaneous melanoma diagnosed at age 35 years or older, and healthy adult individuals as controls. We calculated odds ratios (ORs) for childhood and adolescent melanoma associated with MC1R variants by multivariable logistic regression. Subgroup analysis was done for children aged 18 or younger and 14 years or younger.FindingsWe analysed data from 233 young patients, 932 adult patients, and 932 healthy adult controls. Children and adolescents had higher odds of carrying MC1R r variants than did adult patients (OR 1·54, 95% CI 1·02-2·33), including when analysis was restricted to patients aged 18 years or younger (1·80, 1·06-3·07). All investigated variants, except Arg160Trp, tended, to varying degrees, to have higher frequencies in young patients than in adult patients, with significantly higher frequencies found for Val60Leu (OR 1·60, 95% CI 1·05-2·44; p=0·04) and Asp294His (2·15, 1·05-4·40; p=0·04). Compared with those of healthy controls, young patients with melanoma had significantly higher frequencies of any MC1R variants.InterpretationOur pooled analysis of MC1R genetic data of young patients with melanoma showed that MC1R r variants were more prevalent in childhood and adolescent melanoma than in adult melanoma, especially in patients aged 18 years or younger. Our findings support the role of MC1R in childhood and adolescent melanoma susceptibility, with a potential clinical relevance for developing early melanoma detection and preventive strategies.FundingSPD-Pilot/Project-Award-2015; AIRC-MFAG-11831.
Published: 2019

19. Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma

Author: Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cameron, Briana, Coker, Daniella, Cuellar Partida, Gabriel, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Filshtein, Teresa, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Kleinman, Aaron, Kukar, Katelyn, Lin, Keng-Han, Lowe, Maya, Luff, Marie K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Micheletti, Steven J., Moreno, Meghan E., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Liyanage, Upekha E., MacGregor, Stuart, Bishop, D. Timothy, Shi, Jianxin, An, Jiyuan, Ong, Jue Sheng, Han, Xikun, Scolyer, Richard A., Martin, Nicholas G., Medland, Sarah E., Byrne, Enda M., Green, Adèle C., Saw, Robyn P.M., Thompson, John F., Stretch, Jonathan, Spillane, Andrew, Jiang, Yunxuan, Tian, Chao, Gordon, Scott G., Duffy, David L., Olsen, Catherine M., Whiteman, David C., Long, Georgina V., Iles, Mark M., Landi, Maria Teresa, and Law, Matthew H.
Published: 2022
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20. Mapping clustered mutations in cancer reveals APOBEC3 mutagenesis of ecDNA

Author: Bergstrom, Erik N., Luebeck, Jens, Petljak, Mia, Khandekar, Azhar, Barnes, Mark, Zhang, Tongwu, Steele, Christopher D., Pillay, Nischalan, Landi, Maria Teresa, Bafna, Vineet, Mischel, Paul S., Harris, Reuben S., and Alexandrov, Ludmil B.
Published: 2022
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21. Deciphering associations between three RNA splicing-related genetic variants and lung cancer risk

Author: Yang, Wenjun, Liu, Hongliang, Zhang, Ruoxin, Freedman, Jennifer A., Han, Younghun, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, Bickeboeller, Heike, Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil E., Landi, Maria Teresa, Brueske, Irene, Risch, Angela, Christiani, David C., Amos, Christopher I., Chen, Xiaoxin, Patierno, Steven R., and Wei, Qingyi
Published: 2022
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22. Gene–gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer

Author: Rosenberger, Albert, Muttray, Nils, Hung, Rayjean J., Christiani, David C., Caporaso, Neil E., Liu, Geoffrey, Bojesen, Stig E., Le Marchand, Loic, Albanes, Demetrios, Aldrich, Melinda C., Tardon, Adonina, Fernández-Tardón, Guillermo, Rennert, Gad, Field, John K., Davies, Michael P. A., Liloglou, Triantafillos, Kiemeney, Lambertus A., Lazarus, Philip, Wendel, Bernadette, Haugen, Aage, Zienolddiny, Shanbeh, Lam, Stephen, Schabath, Matthew B., Andrew, Angeline S., Duell, Eric J., Arnold, Susanne M., Goodman, Gary E., Chen, Chu, Doherty, Jennifer A., Taylor, Fiona, Cox, Angela, Woll, Penella J., Risch, Angela, Muley, Thomas R., Johansson, Mikael, Brennan, Paul, Landi, Maria Teresa, Shete, Sanjay S., Amos, Christopher I., and Bickeböller, Heike
Published: 2022
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23. Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting

Author: Seviiri, Mathias, Scolyer, Richard A., Bishop, D. Timothy, Newton-Bishop, Julia A., Iles, Mark M., Lo, Serigne N., Stretch, Johnathan R., Saw, Robyn P. M., Nieweg, Omgo E., Shannon, Kerwin F., Spillane, Andrew J., Gordon, Scott D., Olsen, Catherine M., Whiteman, David C., Landi, Maria Teresa, Thompson, John F., Long, Georgina V., MacGregor, Stuart, and Law, Matthew H.
Published: 2022
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24. Application of two job indices for general occupational demands in a pooled analysis of case–control studies on lung cancer

Author: Hovanec, Jan, Siemiatycki, Jack, Conway, David I, Olsson, Ann, Guenel, Pascal, Luce, Danièle, Jöckel, Karl-Heinz, Pohlabeln, Hermann, Ahrens, Wolfgang, Karrasch, Stefan, Wichmann, Heinz-Erich, Gustavsson, Per, Consonni, Dario, Merletti, Franco, Richiardi, Lorenzo, Simonato, Lorenzo, Fortes, Cristina, Parent, Marie-Élise, McLaughlin, John R, Demers, Paul, Landi, Maria Teresa, Caporaso, Neil, Fernández-Tardón, Guillermo, Zaridze, David, Świątkowska, Beata, Pándics, Tamas, Lissowska, Jolanta, Fabianova, Eleonora, Field, John K, Mates, Dana, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Kromhout, Hans, Vermeulen, Roel, Boffetta, Paolo, Straif, Kurt, Schüz, Joachim, Casjens, Swaantje, Pesch, Beate, Brüning, Thomas, and Behrens, Thomas
Published: 2021

25. Context-aware single-cell multiomics approach identifies cell-type-specific lung cancer susceptibility genes.

Author: Long, Erping, Yin, Jinhu, Shin, Ju Hye, Li, Yuyan, Li, Bolun, Kane, Alexander, Patel, Harsh, Sun, Xinti, Wang, Cong, Luong, Thong, Xia, Jun, Han, Younghun, Byun, Jinyoung, Zhang, Tongwu, Zhao, Wei, Landi, Maria Teresa, Rothman, Nathaniel, Lan, Qing, Chang, Yoon Soo, and Yu, Fulong
Abstract: Genome-wide association studies (GWAS) identified over fifty loci associated with lung cancer risk. However, underlying mechanisms and target genes are largely unknown, as most risk-associated variants might regulate gene expression in a context-specific manner. Here, we generate a barcode-shared transcriptome and chromatin accessibility map of 117,911 human lung cells from age/sex-matched ever- and never-smokers to profile context-specific gene regulation. Identified candidate cis-regulatory elements (cCREs) are largely cell type-specific, with 37% detected in one cell type. Colocalization of lung cancer candidate causal variants (CCVs) with these cCREs combined with transcription factor footprinting prioritize the variants for 68% of the GWAS loci. CCV-colocalization and trait relevance score indicate that epithelial and immune cell categories, including rare cell types, contribute to lung cancer susceptibility the most. A multi-level cCRE-gene linking system identifies candidate susceptibility genes from 57% of the loci, where most loci display cell-category-specific target genes, suggesting context-specific susceptibility gene function. Multiple genetic loci are associated with lung cancer risk, but the underlying genetic mechanisms remain poorly understood. Here, the authors perform single-cell RNA-seq and ATAC-seq analyses of lung cells from ever- and never-smokers; they report candidate cis-regulatory elements that colocalise with candidate causal variants in lung cancer risk loci and potential susceptibility genes. [ABSTRACT FROM AUTHOR]
Published: 2024
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26. Supplementary Materials from CYP2A6 Activity and Cigarette Consumption Interact in Smoking-Related Lung Cancer Susceptibility

Author: Du, Mulong, primary, Xin, Junyi, primary, Zheng, Rui, primary, Yuan, Qianyu, primary, Wang, Zhihui, primary, Liu, Hongliang, primary, Liu, Hanting, primary, Cai, Guoshuai, primary, Albanes, Demetrius, primary, Lam, Stephen, primary, Tardon, Adonina, primary, Chen, Chu, primary, Bojesen, Stig E., primary, Landi, Maria Teresa, primary, Johansson, Mattias, primary, Risch, Angela, primary, Bickeböller, Heike, primary, Wichmann, H-Erich, primary, Rennert, Gad, primary, Arnold, Susanne, primary, Brennan, Paul, primary, Field, John K., primary, Shete, Sanjay S., primary, Le Marchand, Loïc, primary, Liu, Geoffrey, primary, Andrew, Angeline S., primary, Kiemeney, Lambertus A., primary, Zienolddiny, Shan, primary, Grankvist, Kjell, primary, Johansson, Mikael, primary, Caporaso, Neil E., primary, Cox, Angela, primary, Hong, Yun-Chul, primary, Yuan, Jian-Min, primary, Schabath, Matthew B., primary, Aldrich, Melinda C., primary, Wang, Meilin, primary, Shen, Hongbing, primary, Chen, Feng, primary, Zhang, Zhengdong, primary, Hung, Rayjean J., primary, Amos, Christopher I., primary, Wei, Qingyi, primary, Lazarus, Philip, primary, and Christiani, David C., primary
Published: 2024
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27. Data from CYP2A6 Activity and Cigarette Consumption Interact in Smoking-Related Lung Cancer Susceptibility

Author: Du, Mulong, primary, Xin, Junyi, primary, Zheng, Rui, primary, Yuan, Qianyu, primary, Wang, Zhihui, primary, Liu, Hongliang, primary, Liu, Hanting, primary, Cai, Guoshuai, primary, Albanes, Demetrius, primary, Lam, Stephen, primary, Tardon, Adonina, primary, Chen, Chu, primary, Bojesen, Stig E., primary, Landi, Maria Teresa, primary, Johansson, Mattias, primary, Risch, Angela, primary, Bickeböller, Heike, primary, Wichmann, H-Erich, primary, Rennert, Gad, primary, Arnold, Susanne, primary, Brennan, Paul, primary, Field, John K., primary, Shete, Sanjay S., primary, Le Marchand, Loïc, primary, Liu, Geoffrey, primary, Andrew, Angeline S., primary, Kiemeney, Lambertus A., primary, Zienolddiny, Shan, primary, Grankvist, Kjell, primary, Johansson, Mikael, primary, Caporaso, Neil E., primary, Cox, Angela, primary, Hong, Yun-Chul, primary, Yuan, Jian-Min, primary, Schabath, Matthew B., primary, Aldrich, Melinda C., primary, Wang, Meilin, primary, Shen, Hongbing, primary, Chen, Feng, primary, Zhang, Zhengdong, primary, Hung, Rayjean J., primary, Amos, Christopher I., primary, Wei, Qingyi, primary, Lazarus, Philip, primary, and Christiani, David C., primary
Published: 2024
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28. Supplementary Tables1-11 from CYP2A6 Activity and Cigarette Consumption Interact in Smoking-Related Lung Cancer Susceptibility

Author: Du, Mulong, primary, Xin, Junyi, primary, Zheng, Rui, primary, Yuan, Qianyu, primary, Wang, Zhihui, primary, Liu, Hongliang, primary, Liu, Hanting, primary, Cai, Guoshuai, primary, Albanes, Demetrius, primary, Lam, Stephen, primary, Tardon, Adonina, primary, Chen, Chu, primary, Bojesen, Stig E., primary, Landi, Maria Teresa, primary, Johansson, Mattias, primary, Risch, Angela, primary, Bickeböller, Heike, primary, Wichmann, H-Erich, primary, Rennert, Gad, primary, Arnold, Susanne, primary, Brennan, Paul, primary, Field, John K., primary, Shete, Sanjay S., primary, Le Marchand, Loïc, primary, Liu, Geoffrey, primary, Andrew, Angeline S., primary, Kiemeney, Lambertus A., primary, Zienolddiny, Shan, primary, Grankvist, Kjell, primary, Johansson, Mikael, primary, Caporaso, Neil E., primary, Cox, Angela, primary, Hong, Yun-Chul, primary, Yuan, Jian-Min, primary, Schabath, Matthew B., primary, Aldrich, Melinda C., primary, Wang, Meilin, primary, Shen, Hongbing, primary, Chen, Feng, primary, Zhang, Zhengdong, primary, Hung, Rayjean J., primary, Amos, Christopher I., primary, Wei, Qingyi, primary, Lazarus, Philip, primary, and Christiani, David C., primary
Published: 2024
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29. Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis

Author: Yarmolinsky, James, primary, Robinson, Jamie W., additional, Mariosa, Daniela, additional, Karhunen, Ville, additional, Huang, Jian, additional, Dimou, Niki, additional, Murphy, Neil, additional, Burrows, Kimberley, additional, Bouras, Emmanouil, additional, Smith-Byrne, Karl, additional, Lewis, Sarah J., additional, Galesloot, Tessel E., additional, Kiemeney, Lambertus A., additional, Vermeulen, Sita, additional, Martin, Paul, additional, Albanes, Demetrius, additional, Hou, Lifang, additional, Newcomb, Polly A., additional, White, Emily, additional, Wolk, Alicja, additional, Wu, Anna H., additional, Le Marchand, Loïc, additional, Phipps, Amanda I., additional, Buchanan, Daniel D., additional, Zhao, Sizheng Steven, additional, Gill, Dipender, additional, Chanock, Stephen J., additional, Purdue, Mark P., additional, Davey Smith, George, additional, Brennan, Paul, additional, Herzig, Karl-Heinz, additional, Järvelin, Marjo-Riitta, additional, Amos, Chris I., additional, Hung, Rayjean J., additional, Dehghan, Abbas, additional, Johansson, Mattias, additional, Gunter, Marc J., additional, Tsilidis, Kostas K., additional, Martin, Richard M., additional, Landi, Maria Teresa, additional, Stevens, Victoria, additional, Wang, Ying, additional, Albanes, Demetrios, additional, Caporaso, Neil, additional, Amos, Christopher I., additional, Shete, Sanjay, additional, Bickeböller, Heike, additional, Risch, Angela, additional, Houlston, Richard, additional, Lam, Stephen, additional, Tardon, Adonina, additional, Chen, Chu, additional, Bojesen, Stig E., additional, Wichmann, H-Erich, additional, Christiani, David, additional, Rennert, Gadi, additional, Arnold, Susanne, additional, Field, John K., additional, Le Marchand, Loic, additional, Melander, Olle, additional, Brunnström, Hans, additional, Liu, Geoffrey, additional, Andrew, Angeline, additional, Shen, Hongbing, additional, Zienolddiny, Shan, additional, Grankvist, Kjell, additional, Johansson, Mikael, additional, Teare, M. Dawn, additional, Hong, Yun-Chul, additional, Yuan, Jian-Min, additional, Lazarus, Philip, additional, Schabath, Matthew B., additional, Aldrich, Melinda C., additional, Eeles, Rosalind A., additional, Haiman, Christopher A., additional, Kote-Jarai, Zsofia, additional, Schumacher, Fredrick R., additional, Benlloch, Sara, additional, Al Olama, Ali Amin, additional, Muir, Kenneth R., additional, Berndt, Sonja I., additional, Conti, David V., additional, Wiklund, Fredrik, additional, Chanock, Stephen, additional, Tangen, Catherine M., additional, Batra, Jyotsna, additional, Clements, Judith A., additional, Grönberg, Henrik, additional, Pashayan, Nora, additional, Schleutker, Johanna, additional, Weinstein, Stephanie J., additional, West, Catharine M.L., additional, Mucci, Lorelei A., additional, Cancel-Tassin, Géraldine, additional, Koutros, Stella, additional, Sørensen, Karina Dalsgaard, additional, Grindedal, Eli Marie, additional, Neal, David E., additional, Hamdy, Freddie C., additional, Donovan, Jenny L., additional, Travis, Ruth C., additional, Hamilton, Robert J., additional, Ingles, Sue Ann, additional, Rosenstein, Barry S., additional, Lu, Yong-Jie, additional, Giles, Graham G., additional, MacInnis, Robert J., additional, Kibel, Adam S., additional, Vega, Ana, additional, Kogevinas, Manolis, additional, Penney, Kathryn L., additional, Park, Jong Y., additional, Stanfrod, Janet L., additional, Cybulski, Cezary, additional, Nordestgaard, Børge G., additional, Nielsen, Sune F., additional, Brenner, Hermann, additional, Maier, Christiane, additional, Logothetis, Christopher J., additional, John, Esther M., additional, Teixeira, Manuel R., additional, Neuhausen, Susan L., additional, De Ruyck, Kim, additional, Razack, Azad, additional, Newcomb, Lisa F., additional, Lessel, Davor, additional, Kaneva, Radka, additional, Usmani, Nawaid, additional, Claessens, Frank, additional, Townsend, Paul A., additional, Castelao, Jose Esteban, additional, Roobol, Monique J., additional, Menegaux, Florence, additional, Khaw, Kay-Tee, additional, Cannon-Albright, Lisa, additional, Pandha, Hardev, additional, Thibodeau, Stephen N., additional, Hunter, David J., additional, Kraft, Peter, additional, Blot, William J., additional, and Riboli, Elio, additional
Published: 2024
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30. Respirable crystalline silica and lung cancer in community-based studies: impact of job-exposure matrix specifications on exposure–response relationships

Author: Ohlander, Johan, primary, Kromhout, Hans, additional, Vermeulen, Roel, additional, Portengen, Lützen, additional, Kendzia, Benjamin, additional, Savary, Barbara, additional, Cavallo, Domenico, additional, Cattaneo, Andrea, additional, Migliori, Enrica, additional, Richiardi, Lorenzo, additional, Plato, Nils, additional, Wichmann, Heinz-Erich, additional, Karrasch, Stefan, additional, Consonni, Dario, additional, Landi, Maria Teresa, additional, Caporaso, Neil E, additional, Siemiatycki, Jack, additional, Gustavsson, Per, additional, Jöckel, Karl-Heinz, additional, Ahrens, Wolfgang, additional, Pohlabeln, Hermann, additional, Fernández-Tardón, Guillermo, additional, Zaridze, David, additional, Jolanta Lissowska, Jolanta Lissowska, additional, Beata Swiatkowska, Beata Swiatkowska, additional, John K Field, John K Field, additional, McLaughlin, John R, additional, Demers, Paul A, additional, Pandics, Tamas, additional, Forastiere, Francesco, additional, Fabianova, Eleonora, additional, Schejbalova, Miriam, additional, Foretova, Lenka, additional, Janout, Vladimir, additional, Mates, Dana, additional, Barul, Christine, additional, Brüning, Thomas, additional, Behrens, Thomas, additional, Straif, Kurt, additional, Schüz, Joachim, additional, Olsson, Ann, additional, and Peters, Susan, additional
Published: 2024
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31. Genomic and evolutionary classification of lung cancer in never smokers

Author: Zhang, Tongwu, Joubert, Philippe, Ansari-Pour, Naser, Zhao, Wei, Hoang, Phuc H., Lokanga, Rachel, Moye, Aaron L., Rosenbaum, Jennifer, Gonzalez-Perez, Abel, Martínez-Jiménez, Francisco, Castro, Andrea, Muscarella, Lucia Anna, Hofman, Paul, Consonni, Dario, Pesatori, Angela C., Kebede, Michael, Li, Mengying, Gould Rothberg, Bonnie E., Peneva, Iliana, Schabath, Matthew B., Poeta, Maria Luana, Costantini, Manuela, Hirsch, Daniela, Heselmeyer-Haddad, Kerstin, Hutchinson, Amy, Olanich, Mary, Lawrence, Scott M., Lenz, Petra, Duggan, Maire, Bhawsar, Praphulla M. S., Sang, Jian, Kim, Jung, Mendoza, Laura, Saini, Natalie, Klimczak, Leszek J., Islam, S. M. Ashiqul, Otlu, Burcak, Khandekar, Azhar, Cole, Nathan, Stewart, Douglas R., Choi, Jiyeon, Brown, Kevin M., Caporaso, Neil E., Wilson, Samuel H., Pommier, Yves, Lan, Qing, Rothman, Nathaniel, Almeida, Jonas S., Carter, Hannah, Ried, Thomas, Kim, Carla F., Lopez-Bigas, Nuria, Garcia-Closas, Montserrat, Shi, Jianxin, Bossé, Yohan, Zhu, Bin, Gordenin, Dmitry A., Alexandrov, Ludmil B., Chanock, Stephen J., Wedge, David C., and Landi, Maria Teresa
Published: 2021
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32. Alcohol and lung cancer risk among never smokers: A pooled analysis from the international lung cancer consortium and the SYNERGY study

Author: Fehringer, Gordon, Brenner, Darren R, Zhang, Zuo‐Feng, Lee, Yuan‐Chin Amy, Matsuo, Keitaro, Ito, Hidemi, Lan, Qing, Vineis, Paolo, Johansson, Mattias, Overvad, Kim, Riboli, Elio, Trichopoulou, Antonia, Sacerdote, Carlotta, Stucker, Isabelle, Boffetta, Paolo, Brennan, Paul, Christiani, David C, Hong, Yun‐Chul, Landi, Maria Teresa, Morgenstern, Hal, Schwartz, Ann G, Wenzlaff, Angela S, Rennert, Gad, McLaughlin, John R, Harris, Curtis C, Olivo‐Marston, Susan, Orlow, Irene, Park, Bernard J, Zauderer, Marjorie, Dios, Juan M Barros, Raviña, Alberto Ruano, Siemiatycki, Jack, Koushik, Anita, Lazarus, Philip, Fernández‐Somoano, Ana, Tardon, Adonina, Le Marchand, Loic, Brenner, Hermann, Saum, Kai‐Uwe, Duell, Eric J, Andrew, Angeline S, Szeszenia‐Dabrowska, Neonila, Lissowska, Jolanta, Zaridze, David, Rudnai, Peter, Fabianova, Eleonora, Mates, Dana, Foretova, Lenka, Janout, Vladimir, Bencko, Vladimir, Holcatova, Ivana, Pesatori, Angela Cecilia, Consonni, Dario, Olsson, Ann, Straif, Kurt, and Hung, Rayjean J
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Lung, Cancer, Substance Misuse, Tobacco, Alcoholism, Alcohol Use and Health, Tobacco Smoke and Health, Prevention, Lung Cancer, Cardiovascular, Stroke, Respiratory, Good Health and Well Being, Aged, Alcohol Drinking, Alcoholic Beverages, Asia, Case-Control Studies, Cohort Studies, Europe, Female, Humans, Lung Neoplasms, Male, Middle Aged, North America, Risk Factors, Smoking, alcohol, lung cancer, wine, beer, liquor, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract: It is not clear whether alcohol consumption is associated with lung cancer risk. The relationship is likely confounded by smoking, complicating the interpretation of previous studies. We examined the association of alcohol consumption and lung cancer risk in a large pooled international sample, minimizing potential confounding of tobacco consumption by restricting analyses to never smokers. Our study included 22 case-control and cohort studies with a total of 2548 never-smoking lung cancer patients and 9362 never-smoking controls from North America, Europe and Asia within the International Lung Cancer Consortium (ILCCO) and SYNERGY Consortium. Alcohol consumption was categorized into amounts consumed (grams per day) and also modelled as a continuous variable using restricted cubic splines for potential non-linearity. Analyses by histologic sub-type were included. Associations by type of alcohol consumed (wine, beer and liquor) were also investigated. Alcohol consumption was inversely associated with lung cancer risk with evidence most strongly supporting lower risk for light and moderate drinkers relative to non-drinkers (>0-4.9 g per day: OR = 0.80, 95% CI = 0.70-0.90; 5-9.9 g per day: OR = 0.82, 95% CI = 0.69-0.99; 10-19.9 g per day: OR = 0.79, 95% CI = 0.65-0.96). Inverse associations were found for consumption of wine and liquor, but not beer. The results indicate that alcohol consumption is inversely associated with lung cancer risk, particularly among subjects with low to moderate consumption levels, and among wine and liquor drinkers, but not beer drinkers. Although our results should have no relevant bias from the confounding effect of smoking we cannot preclude that confounding by other factors contributed to the observed associations. Confounding in relation to the non-drinker reference category may be of particular importance.
Published: 2017

33. Obesity, metabolic factors and risk of different histological types of lung cancer: A Mendelian randomization study

Author: Carreras-Torres, Robert, Johansson, Mattias, Haycock, Philip C, Wade, Kaitlin H, Relton, Caroline L, Martin, Richard M, Smith, George Davey, Albanes, Demetrius, Aldrich, Melinda C, Andrew, Angeline, Arnold, Susanne M, Bickeböller, Heike, Bojesen, Stig E, Brunnström, Hans, Manjer, Jonas, Brüske, Irene, Caporaso, Neil E, Chen, Chu, Christiani, David C, Christian, W Jay, Doherty, Jennifer A, Duell, Eric J, Field, John K, Davies, Michael PA, Marcus, Michael W, Goodman, Gary E, Grankvist, Kjell, Haugen, Aage, Hong, Yun-Chul, Kiemeney, Lambertus A, van der Heijden, Erik HFM, Kraft, Peter, Johansson, Mikael B, Lam, Stephen, Landi, Maria Teresa, Lazarus, Philip, Le Marchand, Loïc, Liu, Geoffrey, Melander, Olle, Park, Sungshim L, Rennert, Gad, Risch, Angela, Haura, Eric B, Scelo, Ghislaine, Zaridze, David, Mukeriya, Anush, Savić, Milan, Lissowska, Jolanta, Swiatkowska, Beata, Janout, Vladimir, Holcatova, Ivana, Mates, Dana, Schabath, Matthew B, Shen, Hongbing, Tardon, Adonina, Teare, M Dawn, Woll, Penella, Tsao, Ming-Sound, Wu, Xifeng, Yuan, Jian-Min, Hung, Rayjean J, Amos, Christopher I, McKay, James, and Brennan, Paul
Subjects: Epidemiology, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Genetics, Lung, Nutrition, Tobacco Smoke and Health, Prevention, Cancer, Tobacco, Obesity, Clinical Research, Lung Cancer, Aetiology, 2.1 Biological and endogenous factors, Body Mass Index, Fasting, Humans, Insulin, Insulin Resistance, Likelihood Functions, Lipids, Lung Neoplasms, Mendelian Randomization Analysis, Phenotype, Polymorphism, Single Nucleotide, Risk Factors, General Science & Technology
Abstract: BackgroundAssessing the relationship between lung cancer and metabolic conditions is challenging because of the confounding effect of tobacco. Mendelian randomization (MR), or the use of genetic instrumental variables to assess causality, may help to identify the metabolic drivers of lung cancer.Methods and findingsWe identified genetic instruments for potential metabolic risk factors and evaluated these in relation to risk using 29,266 lung cancer cases (including 11,273 adenocarcinomas, 7,426 squamous cell and 2,664 small cell cases) and 56,450 controls. The MR risk analysis suggested a causal effect of body mass index (BMI) on lung cancer risk for two of the three major histological subtypes, with evidence of a risk increase for squamous cell carcinoma (odds ratio (OR) [95% confidence interval (CI)] = 1.20 [1.01-1.43] and for small cell lung cancer (OR [95%CI] = 1.52 [1.15-2.00]) for each standard deviation (SD) increase in BMI [4.6 kg/m2]), but not for adenocarcinoma (OR [95%CI] = 0.93 [0.79-1.08]) (Pheterogeneity = 4.3x10-3). Additional analysis using a genetic instrument for BMI showed that each SD increase in BMI increased cigarette consumption by 1.27 cigarettes per day (P = 2.1x10-3), providing novel evidence that a genetic susceptibility to obesity influences smoking patterns. There was also evidence that low-density lipoprotein cholesterol was inversely associated with lung cancer overall risk (OR [95%CI] = 0.90 [0.84-0.97] per SD of 38 mg/dl), while fasting insulin was positively associated (OR [95%CI] = 1.63 [1.25-2.13] per SD of 44.4 pmol/l). Sensitivity analyses including a weighted-median approach and MR-Egger test did not detect other pleiotropic effects biasing the main results.ConclusionsOur results are consistent with a causal role of fasting insulin and low-density lipoprotein cholesterol in lung cancer etiology, as well as for BMI in squamous cell and small cell carcinoma. The latter relation may be mediated by a previously unrecognized effect of obesity on smoking behavior.
Published: 2017

34. Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma

Author: Qin, Na, Li, Yuancheng, Wang, Cheng, Zhu, Meng, Dai, Juncheng, Hong, Tongtong, Albanes, Demetrius, Lam, Stephen, Tardon, Adonina, Chen, Chu, Goodman, Gary, Bojesen, Stig E., Landi, Maria Teresa, Johansson, Mattias, Risch, Angela, Wichmann, H-Erich, Bickeboller, Heike, Rennert, Gadi, Arnold, Susanne, Brennan, Paul, Field, John K., Shete, Sanjay, Le Marchand, Loic, Melander, Olle, Brunnstrom, Hans, Liu, Geoffrey, Hung, Rayjean J., Andrew, Angeline, Kiemeney, Lambertus A., Zienolddiny, Shan, Grankvist, Kjell, Johansson, Mikael, Caporaso, Neil, Woll, Penella, Lazarus, Philip, Schabath, Matthew B., Aldrich, Melinda C., Stevens, Victoria L., Jin, Guangfu, Christiani, David C., Hu, Zhibin, Amos, Christopher I., Ma, Hongxia, and Shen, Hongbing
Published: 2021
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35. Pleiotropic Analysis of Lung Cancer and Blood Triglycerides

Author: Zuber, Verena, Marconett, Crystal N, Shi, Jianxin, Hua, Xing, Wheeler, William, Yang, Chenchen, Song, Lei, Dale, Anders M, Laplana, Marina, Risch, Angela, Witoelar, Aree, Thompson, Wesley K, Schork, Andrew J, Bettella, Francesco, Wang, Yunpeng, Djurovic, Srdjan, Zhou, Beiyun, Borok, Zea, van der Heijden, Henricus FM, de Graaf, Jacqueline, Swinkels, Dorine, Aben, Katja K, McKay, James, Hung, Rayjean J, Bikeböller, Heike, Stevens, Victoria L, Albanes, Demetrius, Caporaso, Neil E, Han, Younghun, Wei, Yongyue, Panadero, Maria Angeles, Mayordomo, Jose I, Christiani, David C, Kiemeney, Lambertus, Andreassen, Ole A, Houlston, Richard, Amos, Christopher I, Chatterjee, Nilanjan, Laird-Offringa, Ite A, Mills, Ian G, and Landi, Maria Teresa
Subjects: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Lung, Tobacco Smoke and Health, Genetics, Human Genome, Tobacco, Prevention, Lung Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, Cardiovascular Diseases, Case-Control Studies, Chromosomes, Human, Pair 6, Genetic Pleiotropy, Genome-Wide Association Study, Humans, Lung Neoplasms, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Risk Factors, Triglycerides, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract: Epidemiologically related traits may share genetic risk factors, and pleiotropic analysis could identify individual loci associated with these traits. Because of their shared epidemiological associations, we conducted pleiotropic analysis of genome-wide association studies of lung cancer (12 160 lung cancer case patients and 16 838 control subjects) and cardiovascular disease risk factors (blood lipids from 188 577 subjects, type 2 diabetes from 148 821 subjects, body mass index from 123 865 subjects, and smoking phenotypes from 74 053 subjects). We found that 6p22.1 (rs6904596, ZNF184) was associated with both lung cancer (P = 5.50x10(-6)) and blood triglycerides (P = 1.39x10(-5)). We replicated the association in 6097 lung cancer case patients and 204 657 control subjects (P = 2.40 × 10(-4)) and in 71 113 subjects with triglycerides data (P = .01). rs6904596 reached genome-wide significance in lung cancer meta-analysis (odds ratio = 1.15, 95% confidence interval = 1.10 to 1.21 ,: Pcombined = 5.20x10(-9)). The large sample size provided by the lipid GWAS data and the shared genetic risk factors between the two traits contributed to the uncovering of a hitherto unidentified genetic locus for lung cancer.
Published: 2016

36. Respirable crystalline silica and lung cancer in community-based studies: impact of jobexposure matrix specifications on exposure-response relationships.

Author: Ohlander, Johan, Kromhout, Hans, Vermeulen, Roel, Portengen, Lützen, Kendzia, Benjamin, Savary, Barbara, Cavallo, Domenico, Cattaneo, Andrea, Migliori, Enrica, Richiardi, Lorenzo, Plato, Nils, Wichmann, Heinz-Erich, Karrasch, Stefan, Consonni, Dario, Landi, Maria Teresa, Caporaso, Neil E., Siemiatycki, Jack, Gustavsson, Per, Jöckel, Karl-Heinz, and Ahrens, Wolfgang
Abstract: The article informs about the impact of job exposure matrix (JEM) specifications on the relationship between occupational silica exposure and lung cancer risk in community-based studies. Topics include the analysis of exposure-response relationships using different dimensions of SYN-JEM, with results indicating that including all dimensions yields the best model fit, particularly emphasizing the importance of quantitative job-specific estimates in the JEM.
Published: 2024
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37. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

Author: Machiela, Mitchell J, Zhou, Weiyin, Karlins, Eric, Sampson, Joshua N, Freedman, Neal D, Yang, Qi, Hicks, Belynda, Dagnall, Casey, Hautman, Christopher, Jacobs, Kevin B, Abnet, Christian C, Aldrich, Melinda C, Amos, Christopher, Amundadottir, Laufey T, Arslan, Alan A, Beane-Freeman, Laura E, Berndt, Sonja I, Black, Amanda, Blot, William J, Bock, Cathryn H, Bracci, Paige M, Brinton, Louise A, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie E, Butler, Mary A, Canzian, Federico, Carreon, Tania, Chaffee, Kari G, Chang, I-Shou, Chatterjee, Nilanjan, Chen, Chu, Chen, Constance, Chen, Kexin, Chung, Charles C, Cook, Linda S, Bou, Marta Crous, Cullen, Michael, Davis, Faith G, De Vivo, Immaculata, Ding, Ti, Doherty, Jennifer, Duell, Eric J, Epstein, Caroline G, Fan, Jin-Hu, Figueroa, Jonine D, Fraumeni, Joseph F, Friedenreich, Christine M, Fuchs, Charles S, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, Garcia-Closas, Montserrat, Gaudet, Mia M, Gaziano, J Michael, Giles, Graham G, Gillanders, Elizabeth M, Giovannucci, Edward L, Goldin, Lynn, Goldstein, Alisa M, Haiman, Christopher A, Hallmans, Goran, Hankinson, Susan E, Harris, Curtis C, Henriksson, Roger, Holly, Elizabeth A, Hong, Yun-Chul, Hoover, Robert N, Hsiung, Chao A, Hu, Nan, Hu, Wei, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Johansen, Christoffer, Khaw, Kay-Tee, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Alison P, Klein, Robert, Koh, Woon-Puay, Kolonel, Laurence N, Kooperberg, Charles, Kraft, Peter, Krogh, Vittorio, Kurtz, Robert C, LaCroix, Andrea, Lan, Qing, Landi, Maria Teresa, Le Marchand, Loic, Li, Donghui, Liang, Xiaolin, Liao, Linda M, Lin, Dongxin, Liu, Jianjun, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M, and Malats, Nuria
Published: 2016

38. Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci

Author: Kachuri, Linda, Amos, Christopher I, McKay, James D, Johansson, Mattias, Vineis, Paolo, Bueno-de-Mesquita, H Bas, Boutron-Ruault, Marie-Christine, Johansson, Mikael, Quirós, J Ramón, Sieri, Sabina, Travis, Ruth C, Weiderpass, Elisabete, Le Marchand, Loic, Henderson, Brian E, Wilkens, Lynne, Goodman, Gary E, Chen, Chu, Doherty, Jennifer A, Christiani, David C, Wei, Yongyue, Su, Li, Tworoger, Shelley, Zhang, Xuehong, Kraft, Peter, Zaridze, David, Field, John K, Marcus, Michael W, Davies, Michael PA, Hyde, Russell, Caporaso, Neil E, Landi, Maria Teresa, Severi, Gianluca, Giles, Graham G, Liu, Geoffrey, McLaughlin, John R, Li, Yafang, Xiao, Xiangjun, Fehringer, Gord, Zong, Xuchen, Denroche, Robert E, Zuzarte, Philip C, McPherson, John D, Brennan, Paul, and Hung, Rayjean J
Subjects: Lung, Human Genome, Genetics, Cancer, Prevention, Lung Cancer, 2.1 Biological and endogenous factors, Aetiology, Case-Control Studies, Chromosome Mapping, Chromosomes, Human, Pair 5, Female, Genetic Loci, Genetic Predisposition to Disease, Genotyping Techniques, Humans, Lung Neoplasms, Male, Middle Aged, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract: Chromosome 5p15.33 has been identified as a lung cancer susceptibility locus, however the underlying causal mechanisms were not fully elucidated. Previous fine-mapping studies of this locus have relied on imputation or investigated a small number of known, common variants. This study represents a significant advance over previous research by investigating a large number of novel, rare variants, as well as their underlying mechanisms through telomere length. Variants for this fine-mapping study were identified through a targeted deep sequencing (average depth of coverage greater than 4000×) of 576 individuals. Subsequently, 4652 SNPs, including 1108 novel SNPs, were genotyped in 5164 cases and 5716 controls of European ancestry. After adjusting for known risk loci, rs2736100 and rs401681, we identified a new, independent lung cancer susceptibility variant in LPCAT1: rs139852726 (OR = 0.46, P = 4.73×10(-9)), and three new adenocarcinoma risk variants in TERT: rs61748181 (OR = 0.53, P = 2.64×10(-6)), rs112290073 (OR = 1.85, P = 1.27×10(-5)), rs138895564 (OR = 2.16, P = 2.06×10(-5); among young cases, OR = 3.77, P = 8.41×10(-4)). In addition, we found that rs139852726 (P = 1.44×10(-3)) was associated with telomere length in a sample of 922 healthy individuals. The gene-based SKAT-O analysis implicated TERT as the most relevant gene in the 5p15.33 region for adenocarcinoma (P = 7.84×10(-7)) and lung cancer (P = 2.37×10(-5)) risk. In this largest fine-mapping study to investigate a large number of rare and novel variants within 5p15.33, we identified novel lung and adenocarcinoma susceptibility loci with large effects and provided support for the role of telomere length as the potential underlying mechanism.
Published: 2016

39. CYP2A6 activity and cigarette consumption interact in smoking-related lung cancer susceptibility

Author: Du, Mulong, primary, Xin, Junyi, additional, Zheng, Rui, additional, Yuan, Qianyu, additional, Wang, Zhihui, additional, Liu, Hongliang, additional, Liu, Hanting, additional, Cai, Guoshuai, additional, Albanes, Demetrius, additional, Lam, Stephen, additional, Tardon, Adonina, additional, Chen, Chu, additional, Bojesen, Stig E., additional, Landi, Maria Teresa, additional, Johansson, Mattias, additional, Risch, Angela, additional, Bickeböller, Heike, additional, Wichmann, H-Erich, additional, Rennert, Gad, additional, Arnold, Susanne, additional, Brennan, Paul, additional, Field, John K., additional, Shete, Sanjay S., additional, Le Marchand, Loïc, additional, Liu, Geoffrey, additional, Andrew, Angeline S., additional, Kiemeney, Lambertus A., additional, Zienolddiny, Shanbeh, additional, Grankvist, Kjell, additional, Johansson, Mikael, additional, Caporaso, Neil E., additional, Cox, Angela, additional, Hong, Yun-Chul, additional, Yuan, Jian-Min, additional, Schabath, Matthew B., additional, Aldrich, Melinda C., additional, Wang, Meilin, additional, Shen, Hongbing, additional, Chen, Feng, additional, Zhang, Zhengdong, additional, Hung, Rayjean J., additional, Amos, Christopher I., additional, Wei, Qingyi, additional, Lazarus, Philip, additional, and Christiani, David C., additional
Published: 2023
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40. Identification of genetically predicted DNA methylation markers associated with non–small cell lung cancer risk among 34,964 cases and 448,579 controls

Author: Zhao, Xiaoyu, primary, Yang, Meiqi, additional, Fan, Jingyi, additional, Wang, Mei, additional, Wang, Yifan, additional, Qin, Na, additional, Zhu, Meng, additional, Jiang, Yue, additional, Gorlova, Olga Y., additional, Gorlov, Ivan P., additional, Albanes, Demetrius, additional, Lam, Stephen, additional, Tardón, Adonina, additional, Chen, Chu, additional, Goodman, Gary E., additional, Bojesen, Stig E., additional, Landi, Maria Teresa, additional, Johansson, Mattias, additional, Risch, Angela, additional, Wichmann, H.‐Erich, additional, Bickeböller, Heike, additional, Christiani, David C., additional, Rennert, Gad, additional, Arnold, Susanne M., additional, Brennan, Paul, additional, Field, John K., additional, Shete, Sanjay, additional, Le Marchand, Loïc, additional, Liu, Geoffrey, additional, Hung, Rayjean J., additional, Andrew, Angeline S., additional, Kiemeney, Lambertus A., additional, Zienolddiny, Shanbeh, additional, Grankvist, Kjell, additional, Johansson, Mikael, additional, Caporaso, Neil E., additional, Woll, Penella J., additional, Lazarus, Philip, additional, Schabath, Matthew B., additional, Aldrich, Melinda C., additional, Patel, Alpa V., additional, Davies, Michael P. A., additional, Ma, Hongxia, additional, Jin, Guangfu, additional, Hu, Zhibin, additional, Amos, Christopher I., additional, Shen, Hongbing, additional, and Dai, Juncheng, additional
Published: 2023
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41. Molecular Profile of Subungual Melanoma: A MelaNostrum Consortium Study of 68 Cases Reporting BRAF, NRAS, KIT, and TERT Promoter Status

Author: Millan-Esteban, David, primary, García-Casado, Zaida, additional, Macià, Anna, additional, de la Rosa, Inés, additional, Torrecilla-Vall-llossera, Clara, additional, Penin, Rosa Maria, additional, Manrique - Silva, Esperanza, additional, Pellegrini, Stefania, additional, Biasin, Maria Raffaella, additional, Rizzolo, Piera, additional, Gavillero, Alicia, additional, Di Stefani, Alessandro, additional, Pellegrini, Cristina, additional, Requena, Celia, additional, Fargnoli, Maria Concetta, additional, Peris, Ketty, additional, Cota, Carlo, additional, Menin, Chiara, additional, Landi, Maria Teresa, additional, and Nagore, Eduardo, additional
Published: 2023
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42. Occupational Benzene Exposure and Lung Cancer Risk: A Pooled Analysis of 14 Case-Control Studies

Author: Wan, Wenxin, primary, Peters, Susan, additional, Portengen, Lützen, additional, Olsson, Ann, additional, Schüz, Joachim, additional, Ahrens, Wolfgang, additional, Schejbalova, Miriam, additional, Boffetta, Paolo, additional, Behrens, Thomas, additional, Brüning, Thomas, additional, Kendzia, Benjamin, additional, Consonni, Dario, additional, Demers, Paul A, additional, Fabiánová, Eleonóra, additional, Fernández-Tardón, Guillermo, additional, Field, John K., additional, Forastiere, Francesco, additional, Foretova, Lenka, additional, Guénel, Pascal, additional, Gustavsson, Per, additional, Jöckel, Karl-Heinz, additional, Karrasch, Stefan, additional, Landi, Maria Teresa, additional, Lissowska, Jolanta, additional, Barul, Christine, additional, Mates, Dana, additional, McLaughlin, John R., additional, Merletti, Franco, additional, Migliore, Enrica, additional, Richiardi, Lorenzo, additional, Pándics, Tamás, additional, Pohlabeln, Hermann, additional, Siemiatycki, Jack, additional, Świątkowska, Beata, additional, Wichmann, Heinz-Erich, additional, Zaridze, David, additional, Ge, Calvin, additional, Straif, Kurt, additional, Kromhout, Hans, additional, and Vermeulen, Roel, additional
Published: 2023
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43. Peritoneal mesothelioma and asbestos exposure : a population-based case–control study in Lombardy, Italy

Author: Consonni, Dario, Calvi, Cristina, De Matteis, Sara, Mirabelli, Dario, Landi, Maria Teresa, Caporaso, Neil E, Peters, Susan, Vermeulen, Roel, Kromhout, Hans, Dallari, Barbara, Pesatori, Angela Cecilia, Riboldi, Luciano, and Mensi, Carolina
Published: 2019

44. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types

Author: Sampson, Joshua N, Wheeler, William A, Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I, Lan, Qing, Abnet, Christian C, Amundadottir, Laufey T, Figueroa, Jonine D, Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A, Taylor, Philip R, De Vivo, Immaculata, McGlynn, Katherine A, Purdue, Mark P, Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Angelucci, Emanuele, Ansell, Stephen M, Arici, Cecilia, Armstrong, Bruce K, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A, Birmann, Brenda M, Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brinton, Louise, Brooks-Wilson, Angela R, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John KC, Chang, Ellen T, Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C, Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S, Comperat, Eva, Conde, Lucia, Connors, Joseph M, Conti, David, Cortessis, Victoria K, Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, and Davis, Faith G
Subjects: Tobacco, Clinical Research, Urologic Diseases, Lung, Genetics, Rare Diseases, Lung Cancer, Human Genome, Hematology, Cancer, Tobacco Smoke and Health, Prevention, Lymphoma, Adult, Aged, Asian People, Bone Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Kidney Neoplasms, Leukemia, Lymphocytic, Chronic, B-Cell, Lung Neoplasms, Lymphoma, Large B-Cell, Diffuse, Male, Middle Aged, Neoplasms, Osteosarcoma, Polymorphism, Single Nucleotide, Smoking, Testicular Neoplasms, Tissue Array Analysis, Urinary Bladder Neoplasms, White People, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract: BackgroundStudies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.MethodsBetween 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers.ResultsGWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures.ConclusionOur results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
Published: 2015

45. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types.

Author: Sampson, Joshua N, Wheeler, William A, Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I, Lan, Qing, Abnet, Christian C, Amundadottir, Laufey T, Figueroa, Jonine D, Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A, Taylor, Philip R, De Vivo, Immaculata, McGlynn, Katherine A, Purdue, Mark P, Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Angelucci, Emanuele, Ansell, Stephen M, Arici, Cecilia, Armstrong, Bruce K, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A, Birmann, Brenda M, Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brinton, Louise, Brooks-Wilson, Angela R, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John KC, Chang, Ellen T, Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C, Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S, Comperat, Eva, Conde, Lucia, Connors, Joseph M, Conti, David, Cortessis, Victoria K, Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, and Davis, Faith G
Subjects: Humans, Neoplasms, Osteosarcoma, Bone Neoplasms, Testicular Neoplasms, Lung Neoplasms, Kidney Neoplasms, Genetic Predisposition to Disease, Tissue Array Analysis, Smoking, Polymorphism, Single Nucleotide, Adult, Aged, Middle Aged, Asian Continental Ancestry Group, European Continental Ancestry Group, Female, Male, Urinary Bladder Neoplasms, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Large B-Cell, Diffuse, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Large B-Cell, Diffuse, Oncology And Carcinogenesis, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract: BackgroundStudies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.MethodsBetween 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers.ResultsGWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures.ConclusionOur results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
Published: 2015

46. Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer

Author: Astiazaran-Symonds, Esteban, Graham, Cole, Kim, Jung, Tucker, Margaret A., Ingvar, Christian, Helgadottir, Hildur, Pastorino, Lorenza, van Doorn, Remco, Sampson, Joshua N., Zhu, Bin, Bruno, William, Queirolo, Paola, Fornarini, Giuseppe, Sciallero, Stefania, Carter, Brian, Hicks, Belynda, Hutchinson, Amy, Jones, Kristine, Stewart, Douglas R., Chanock, Stephen J., Freedman, Neal D., Landi, Maria Teresa, Höiom, Veronica, Puig, Susana, Gruis, Nelleke, Yang, Xiaohong R., Ghiorzo, Paola, and Goldstein, Alisa M.
Published: 2022
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47. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Author: Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Del Regno, Laura, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M., Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Newton-Bishop, Julia A., Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., and Law, Matthew H.
Published: 2020
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48. Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies

Author: Mann, Graham J., Cust, Anne E., Schmid, Helen, Hopper, John L., Aitken, Joanne F., Armstrong, Bruce K., Giles, Graham G., Holland, Elizabeth, Kefford, Richard F., Jenkins, Mark A., Newton Bishop, Julia A., Affleck, Paul, Barrett, Jennifer H., Bishop, D. Timothy, Harrison, Jane, Iles, Mark M., Randerson-Moor, Juliette, Harland, Mark, Taylor, John C., Whittaker, Linda, Kukalizch, Kairen, Leake, Susan, Karpavicius, Birute, Haynes, Sue, Mack, Tricia, Chan, May, Taylor, Yvonne, Davies, John, King, Paul, Drummond, Martin, Kanetsky, Peter A., Goldstein, Alisa M., MacGregor, Stuart, Law, Matthew H., Bui, Minh, Brossard, Myriam, Demenais, Florence, Hoggart, Clive, Brown, Kevin M., Landi, Maria Teresa, and Newton-Bishop, Julia A.
Published: 2018
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49. Identification of genetically predicted DNA methylation markers associated with non–small cell lung cancer risk among 34,964 cases and 448,579 controls.

Author: Zhao, Xiaoyu, Yang, Meiqi, Fan, Jingyi, Wang, Mei, Wang, Yifan, Qin, Na, Zhu, Meng, Jiang, Yue, Gorlova, Olga Y., Gorlov, Ivan P., Albanes, Demetrius, Lam, Stephen, Tardón, Adonina, Chen, Chu, Goodman, Gary E., Bojesen, Stig E., Landi, Maria Teresa, Johansson, Mattias, Risch, Angela, and Wichmann, H.‐Erich
Subjects: NON-small-cell lung carcinoma, EPIGENOMICS, DNA methylation, DISEASE risk factors, GENOME-wide association studies, LUNG cancer
Abstract: Background: Although the associations between genetic variations and lung cancer risk have been explored, the epigenetic consequences of DNA methylation in lung cancer development are largely unknown. Here, the genetically predicted DNA methylation markers associated with non–small cell lung cancer (NSCLC) risk by a two‐stage case‐control design were investigated. Methods: The genetic prediction models for methylation levels based on genetic and methylation data of 1595 subjects from the Framingham Heart Study were established. The prediction models were applied to a fixed‐effect meta‐analysis of screening data sets with 27,120 NSCLC cases and 27,355 controls to identify the methylation markers, which were then replicated in independent data sets with 7844 lung cancer cases and 421,224 controls. Also performed was a multi‐omics functional annotation for the identified CpGs by integrating genomics, epigenomics, and transcriptomics and investigation of the potential regulation pathways. Results: Of the 29,894 CpG sites passing the quality control, 39 CpGs associated with NSCLC risk (Bonferroni‐corrected p ≤ 1.67 × 10−6) were originally identified. Of these, 16 CpGs remained significant in the validation stage (Bonferroni‐corrected p ≤ 1.28 × 10−3), including four novel CpGs. Multi‐omics functional annotation showed nine of 16 CpGs were potentially functional biomarkers for NSCLC risk. Thirty‐five genes within a 1‐Mb window of 12 CpGs that might be involved in regulatory pathways of NSCLC risk were identified. Conclusions: Sixteen promising DNA methylation markers associated with NSCLC were identified. Changes of the methylation level at these CpGs might influence the development of NSCLC by regulating the expression of genes nearby. Plain Language Summary: The epigenetic consequences of DNA methylation in lung cancer development are still largely unknown.This study used summary data of large‐scale genome‐wide association studies to investigate the associations between genetically predicted levels of methylation biomarkers and non–small cell lung cancer risk at the first time.This study looked at how well larotrectinib worked in adult patients with sarcomas caused by TRK fusion proteins.These findings will provide a unique insight into the epigenetic susceptibility mechanisms of lung cancer. Sixteen promising DNA methylation markers associated with non–small cell lung cancer (NSCLC) were identified. Changes of the methylation level at these CpGs might influence the development of NSCLC by regulating the expression of genes nearby. [ABSTRACT FROM AUTHOR]
Published: 2024
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50. Molecular Profile of Subungual Melanoma: A MelaNostrum Consortium Study of 68 Cases Reporting BRAF, NRAS, KIT, and TERT Promoter Status.

Author: Millan-Esteban, David, García-Casado, Zaida, Macià, Anna, de la Rosa, Inés, Torrecilla-Vall-llossera, Clara, Penin, Rosa Maria, Manrique - Silva, Esperanza, Pellegrini, Stefania, Biasin, Maria Raffaella, Rizzolo, Piera, Gavillero, Alicia, Di Stefani, Alessandro, Pellegrini, Cristina, Requena, Celia, Fargnoli, Maria Concetta, Peris, Ketty, Cota, Carlo, Menin, Chiara, Landi, Maria Teresa, and Nagore, Eduardo
Subjects: BRAF genes, NUCLEOTIDE sequencing, PROMOTERS (Genetics), NAIL diseases, MELANOMA, GENETIC mutation
Abstract: Background: Subungual melanoma (SM) is an unusual type of melanocytic tumor affecting the nail apparatus. The mutational prevalence of the most prominently mutated genes in melanoma has been reported in small cohorts of SM, with unclear conclusions on whether SM is different from the rest of melanomas arising in acral locations or not. Hence, the molecular profile of a large series of SM is yet to be described. Objectives: The aim of this study was to describe the molecular characteristics of a large series of SM and their association with demographic and histopathological features. Methods: Patients diagnosed with SM between 2001 and 2021 were identified from six Spanish and Italian healthcare centers. The mutational status for BRAF, NRAS, KIT, and the promoter region of TERT (TERTp) were determined either by Sanger sequencing or next-generation sequencing. Clinical data were retrieved from the hospital databases to elucidate potential associations. Results: A total of 68 SM cases were included. Mutations were most common in BRAF (10.3%) and KIT (10%), followed by NRAS (7.6%), and TERTp (3.8%). Their prevalence was similar to that of non-subungual acral melanoma but higher in SM located on the hand than on the foot. Conclusions: To date, this study represents the largest cohort of SM patients with data on the known driver gene mutations. The low mutation rate supports a different etiopathogenic mechanism for SM in comparison of non-acral cutaneous melanoma, particularly for SM of the foot. [ABSTRACT FROM AUTHOR]
Published: 2024
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