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6,271 results on '"Matsuo, K"'

108. EPV033a/#697 Significance of histology and nodal status on the survival of women with early-stage cervical cancer: validation of the 2018 FIGO cervical cancer staging system

Author

Machida, H, primary, Matsuo, K, additional, Kobayashi, Y, additional, Momomura, M, additional, Takahashi, F, additional, Tabata, T, additional, Kondo, E, additional, Yamagami, W, additional, Ebina, Y, additional, Kaneuchi, M, additional, Nagase, S, additional, and Mikami, M, additional

Published
2021
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112. Joint effects of intensity and duration of cigarette smoking on the risk of head and neck cancer: A bivariate spline model approach

Author

Di Credico, G, Edefonti, V, Polesel, J, Pauli, F, Torelli, N, Serraino, D, Negri, E, Luce, D, Stucker, I, Matsuo, K, Brennan, P, Vilensky, M, Fernandez, L, Curado, M, Menezes, A, Daudt, A, Koifman, R, Wunsch-Filho, V, Holcatova, I, Ahrens, W, Lagiou, P, Simonato, L, Richiardi, L, Healy, C, Kjaerheim, K, Conway, D, Macfarlane, T, Thomson, P, Agudo, A, Znaor, A, Boaventura Rios, L, Toporcov, T, Franceschi, S, Herrero, R, Muscat, J, Olshan, A, Zevallos, J, La Vecchia, C, Winn, D, Sturgis, E, Li, G, Fabianova, E, Lissowska, J, Mates, D, Rudnai, P, Shangina, O, Swiatkowska, B, Moysich, K, Zhang, Z, Morgenstern, H, Levi, F, Smith, E, Lazarus, P, Bosetti, C, Garavello, W, Kelsey, K, Mcclean, M, Ramroth, H, Chen, C, Schwartz, S, Vaughan, T, Zheng, T, Menvielle, G, Boccia, S, Cadoni, G, Hayes, R, Purdue, M, Gillison, M, Schantz, S, Yu, G, Brenner, H, D'Souza, G, Gross, N, Chuang, S, Boffetta, P, Hashibe, M, Lee, Y, Dal Maso, L, Di Credico G., Edefonti V., Polesel J., Pauli F., Torelli N., Serraino D., Negri E., Luce D., Stucker I., Matsuo K., Brennan P., Vilensky M., Fernandez L., Curado M. P., Menezes A., Daudt A. W., Koifman R., Wunsch-Filho V., Holcatova I., Ahrens W., Lagiou P., Simonato L., Richiardi L., Healy C., Kjaerheim K., Conway D. I., Macfarlane T. V., Thomson P., Agudo A., Znaor A., Boaventura Rios L. F., Toporcov T. N., Franceschi S., Herrero R., Muscat J., Olshan A. F., Zevallos J. P., La Vecchia C., Winn D. M., Sturgis E. M., Li G., Fabianova E., Lissowska J., Mates D., Rudnai P., Shangina O., Swiatkowska B., Moysich K., Zhang Z. -F., Morgenstern H., Levi F., Smith E., Lazarus P., Bosetti C., Garavello W., Kelsey K., McClean M., Ramroth H., Chen C., Schwartz S. M., Vaughan T. L., Zheng T., Menvielle G., Boccia S., Cadoni G., Hayes R. B., Purdue M., Gillison M., Schantz S., Yu G. -P., Brenner H., D'Souza G., Gross N. D., Chuang S. -C., Boffetta P., Hashibe M., Lee Y. -C. A., Dal Maso L., Di Credico, G, Edefonti, V, Polesel, J, Pauli, F, Torelli, N, Serraino, D, Negri, E, Luce, D, Stucker, I, Matsuo, K, Brennan, P, Vilensky, M, Fernandez, L, Curado, M, Menezes, A, Daudt, A, Koifman, R, Wunsch-Filho, V, Holcatova, I, Ahrens, W, Lagiou, P, Simonato, L, Richiardi, L, Healy, C, Kjaerheim, K, Conway, D, Macfarlane, T, Thomson, P, Agudo, A, Znaor, A, Boaventura Rios, L, Toporcov, T, Franceschi, S, Herrero, R, Muscat, J, Olshan, A, Zevallos, J, La Vecchia, C, Winn, D, Sturgis, E, Li, G, Fabianova, E, Lissowska, J, Mates, D, Rudnai, P, Shangina, O, Swiatkowska, B, Moysich, K, Zhang, Z, Morgenstern, H, Levi, F, Smith, E, Lazarus, P, Bosetti, C, Garavello, W, Kelsey, K, Mcclean, M, Ramroth, H, Chen, C, Schwartz, S, Vaughan, T, Zheng, T, Menvielle, G, Boccia, S, Cadoni, G, Hayes, R, Purdue, M, Gillison, M, Schantz, S, Yu, G, Brenner, H, D'Souza, G, Gross, N, Chuang, S, Boffetta, P, Hashibe, M, Lee, Y, Dal Maso, L, Di Credico G., Edefonti V., Polesel J., Pauli F., Torelli N., Serraino D., Negri E., Luce D., Stucker I., Matsuo K., Brennan P., Vilensky M., Fernandez L., Curado M. P., Menezes A., Daudt A. W., Koifman R., Wunsch-Filho V., Holcatova I., Ahrens W., Lagiou P., Simonato L., Richiardi L., Healy C., Kjaerheim K., Conway D. I., Macfarlane T. V., Thomson P., Agudo A., Znaor A., Boaventura Rios L. F., Toporcov T. N., Franceschi S., Herrero R., Muscat J., Olshan A. F., Zevallos J. P., La Vecchia C., Winn D. M., Sturgis E. M., Li G., Fabianova E., Lissowska J., Mates D., Rudnai P., Shangina O., Swiatkowska B., Moysich K., Zhang Z. -F., Morgenstern H., Levi F., Smith E., Lazarus P., Bosetti C., Garavello W., Kelsey K., McClean M., Ramroth H., Chen C., Schwartz S. M., Vaughan T. L., Zheng T., Menvielle G., Boccia S., Cadoni G., Hayes R. B., Purdue M., Gillison M., Schantz S., Yu G. -P., Brenner H., D'Souza G., Gross N. D., Chuang S. -C., Boffetta P., Hashibe M., Lee Y. -C. A., and Dal Maso L.

Abstract

Objectives: This study aimed at re-evaluating the strength and shape of the dose-response relationship between the combined (or joint) effect of intensity and duration of cigarette smoking and the risk of head and neck cancer (HNC). We explored this issue considering bivariate spline models, where smoking intensity and duration were treated as interacting continuous exposures. Materials and Methods: We pooled individual-level data from 33 case-control studies (18,260 HNC cases and 29,844 controls) participating in the International Head and Neck Cancer Epidemiology (INHANCE) consortium. In bivariate regression spline models, exposures to cigarette smoking intensity and duration (compared with never smokers) were modeled as a linear piecewise function within a logistic regression also including potential confounders. We jointly estimated the optimal knot locations and regression parameters within the Bayesian framework. Results: For oral-cavity/pharyngeal (OCP) cancers, an odds ratio (OR) >5 was reached after 30 years in current smokers of ∼20 or more cigarettes/day. Patterns of OCP cancer risk in current smokers differed across strata of alcohol intensity. For laryngeal cancer, ORs >20 were found for current smokers of ≥20 cigarettes/day for ≥30 years. In former smokers who quit ≥10 years ago, the ORs were approximately halved for OCP cancers, and ∼1/3 for laryngeal cancer, as compared to the same levels of intensity and duration in current smokers. Conclusion: Referring to bivariate spline models, this study better quantified the joint effect of intensity and duration of cigarette smoking on HNC risk, further stressing the need of smoking cessation policies

Published
2019

113. Age at start of using tobacco on the risk of head and neck cancer: Pooled analysis in the International Head and Neck Cancer Epidemiology Consortium (INHANCE)

Author

Chang, C, Chang, S, Chuang, S, Berthiller, J, Ferro, G, Matsuo, K, Wunsch-Filho, V, Toporcov, T, de Carvalho, M, La Vecchia, C, Olshan, A, Zevallos, J, Serraino, D, Muscat, J, Sturgis, E, Li, G, Morgenstern, H, Levi, F, Dal Maso, L, Smith, E, Kelsey, K, Mcclean, M, Vaughan, T, Lazarus, P, Ramroth, H, Chen, C, Schwartz, S, Winn, D, Bosetti, C, Edefonti, V, Garavello, W, Negri, E, Hayes, R, Purdue, M, Boccia, S, Cadoni, G, Shangina, O, Koifman, R, Curado, M, Vilensky, M, Swiatkowska, B, Herrero, R, Franceschi, S, Benhamou, S, Fernandez, L, Menezes, A, Daudt, A, Mates, D, Schantz, S, Yu, G, Lissowska, J, Brenner, H, Fabianova, E, Rudnai, P, Brennan, P, Boffetta, P, Zhang, Z, Hashibe, M, Lee, Y, Chang C. -P., Chang S. -C., Chuang S. -C., Berthiller J., Ferro G., Matsuo K., Wunsch-Filho V., Toporcov T. N., de Carvalho M. B., La Vecchia C., Olshan A. F., Zevallos J. P., Serraino D., Muscat J., Sturgis E. M., Li G., Morgenstern H., Levi F., Dal Maso L., Smith E., Kelsey K., McClean M., Vaughan T. L., Lazarus P., Ramroth H., Chen C., Schwartz S. M., Winn D. M., Bosetti C., Edefonti V., Garavello W., Negri E., Hayes R. B., Purdue M. P., Boccia S., Cadoni G., Shangina O., Koifman R., Curado M. P., Vilensky M., Swiatkowska B., Herrero R., Franceschi S., Benhamou S., Fernandez L., Menezes A. M. B., Daudt A. W., Mates D., Schantz S., Yu G. -P., Lissowska J., Brenner H., Fabianova E., Rudnai P., Brennan P., Boffetta P., Zhang Z. -F., Hashibe M., Lee Y. -C. A., Chang, C, Chang, S, Chuang, S, Berthiller, J, Ferro, G, Matsuo, K, Wunsch-Filho, V, Toporcov, T, de Carvalho, M, La Vecchia, C, Olshan, A, Zevallos, J, Serraino, D, Muscat, J, Sturgis, E, Li, G, Morgenstern, H, Levi, F, Dal Maso, L, Smith, E, Kelsey, K, Mcclean, M, Vaughan, T, Lazarus, P, Ramroth, H, Chen, C, Schwartz, S, Winn, D, Bosetti, C, Edefonti, V, Garavello, W, Negri, E, Hayes, R, Purdue, M, Boccia, S, Cadoni, G, Shangina, O, Koifman, R, Curado, M, Vilensky, M, Swiatkowska, B, Herrero, R, Franceschi, S, Benhamou, S, Fernandez, L, Menezes, A, Daudt, A, Mates, D, Schantz, S, Yu, G, Lissowska, J, Brenner, H, Fabianova, E, Rudnai, P, Brennan, P, Boffetta, P, Zhang, Z, Hashibe, M, Lee, Y, Chang C. -P., Chang S. -C., Chuang S. -C., Berthiller J., Ferro G., Matsuo K., Wunsch-Filho V., Toporcov T. N., de Carvalho M. B., La Vecchia C., Olshan A. F., Zevallos J. P., Serraino D., Muscat J., Sturgis E. M., Li G., Morgenstern H., Levi F., Dal Maso L., Smith E., Kelsey K., McClean M., Vaughan T. L., Lazarus P., Ramroth H., Chen C., Schwartz S. M., Winn D. M., Bosetti C., Edefonti V., Garavello W., Negri E., Hayes R. B., Purdue M. P., Boccia S., Cadoni G., Shangina O., Koifman R., Curado M. P., Vilensky M., Swiatkowska B., Herrero R., Franceschi S., Benhamou S., Fernandez L., Menezes A. M. B., Daudt A. W., Mates D., Schantz S., Yu G. -P., Lissowska J., Brenner H., Fabianova E., Rudnai P., Brennan P., Boffetta P., Zhang Z. -F., Hashibe M., and Lee Y. -C. A.

Abstract

Background: Tobacco use is a well-established risk factor for head and neck cancer (HNC). However, less is known about the potential impact of exposure to tobacco at an early age on HNC risk. Methods: We analyzed individual-level data on ever tobacco smokers from 27 case-control studies (17,146 HNC cases and 17,449 controls) in the International Head and Neck Cancer Epidemiology (INHANCE) consortium. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using random-effects logistic regression models. Results: Without adjusting for tobacco packyears, we observed that younger age at starting tobacco use was associated with an increased HNC risk for ever smokers (OR<10 years vs. ≥30 years: 1.64, 95% CI: 1.35, 1.97). However, the observed association between age at starting tobacco use and HNC risk became null after adjusting for tobacco packyears (OR<10 years vs. ≥30 years: 0.97, 95% CI: 0.80, 1.19). In the stratified analyses on HNC subsites by tobacco packyears or years since quitting, no difference in the association between age at start and HNC risk was observed. Conclusions: Results from this pooled analysis suggest that increased HNC risks observed with earlier age at starting tobacco smoking are largely due to longer duration and higher cumulative tobacco exposures.

Published
2019

115. EP09.91: Stratification of fetal therapy indication for the fetus with severe tricuspid valve dysplasia.

Author

Ishii, Y., Nagano, H., Hayashida, Y., Fujisaki, T., Mori, M., Matsuo, K., Asada, D., Kanaya, T., Tsumura, S., and Aoki, H.

Subjects
FETAL ultrasonic imaging, MATERNAL age, EBSTEIN'S anomaly, TRICUSPID valve, CONGENITAL heart disease
Abstract

This article discusses the severity and clinical course of tricuspid valve dysplasia (TVD) in fetuses and explores suitable cases for fetal treatment. The study presents the SAS score and TRIPP score for 20 TVD cases from 2013 to 2023. The results show that a SAS score and TRIPP score of 6 or higher indicate a higher risk of intrauterine fetal death (IUFD) and may be suitable for fetal treatment. The article concludes that stratifying severity using these scores is valuable in determining the need for fetal treatment. [Extracted from the article]

Published
2024
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116. EP09.33: Utility of novel echocardiographic measurements to improve prenatal diagnosis of coarctation of the aorta.

Author

Fujisaki, T., Ishii, Y., Takahashi, K., Mori, M., Matsuo, K., Asada, D., Kanaya, T., Tsumura, S., Kayatani, F., and Aoki, H.

Subjects
RECEIVER operating characteristic curves, SUBCLAVIAN artery, THORACIC aorta, DUCTUS arteriosus, CAROTID artery, AORTIC coarctation
Abstract

This article, published in the journal Ultrasound in Obstetrics & Gynecology, discusses the challenges of prenatal diagnosis of coarctation of the aorta (CoA) and aims to identify a novel formula based on fetal echocardiographic measures to improve prenatal identification of CoA. The study compared echocardiographic evaluations of 30 patients with suspected CoA and found that measurements of aortic isthmus diameter, ductus arteriosus diameter/aortic isthmus diameter, and distal aortic arch (DA) index showed significant differences between the groups. The DA index was found to be the most effective measurement, with a cutoff value of 1.28 indicating cases requiring surgical intervention. [Extracted from the article]

Published
2024
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117. EP09.18: Utility of the angle between the right aortic arch and first branch for detecting double aortic arch via fetal echocardiography.

Author

Mori, M., Ishii, Y., Takahashi, K., Nagano, H., Hayashida, Y., Fujisaki, T., Matsuo, K., Asada, D., Hisaaki, A., and Kayatani, F.

Subjects
THORACIC aorta, MIRROR images, RECEIVER operating characteristic curves, SENSITIVITY & specificity (Statistics), TRACHEA
Abstract

This article, published in the journal "Ultrasound in Obstetrics & Gynecology," discusses the utility of using fetal echocardiography to differentiate between a double aortic arch (DAA) and a right aortic arch with mirror image branching (mRAA). DAA is a condition that can cause airway and esophageal compression after birth, while mRAA rarely causes tracheal compressive symptoms. The study found that the angle between the right aortic arch and first branch (RF angle) was significantly sharper in the DAA group compared to the mRAA group. The researchers determined that an RF angle of less than 71° had 100% sensitivity and 75% specificity for the detection of DAA. [Extracted from the article]

Published
2024
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118. EP09.06: A case of incomplete double aortic arch with steep RF angle between aortic arch and first branch.

Author

Inoue, Y., Ishii, Y., Nagano, H., Hayashida, Y., Fujisaki, T., Mori, M., Matsuo, K., Asada, D., Takahashi, K., Tsumura, S., and Aoki, H.

Subjects
THORACIC aorta, SUBCLAVIAN artery, FETAL echocardiography, CAROTID artery, BRACHIOCEPHALIC trunk
Abstract

This article discusses a case of incomplete double aortic arch (iDAA), a congenital vascular anomaly that can cause respiratory problems. The diagnosis of iDAA is challenging, especially during the fetal period. The article highlights the importance of a steep angle between the right aortic arch (RAA) and the first branch (RF angle) as a potential indicator of iDAA. The case study describes a fetus with a steep RF angle on prenatal fetal echocardiography, leading to the diagnosis of iDAA after birth. The article concludes that a steep RF angle in a case of RAA suggests the possibility of iDAA. [Extracted from the article]

Published
2024
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124. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Author

Baxter, J.S., Johnson, N., Tomczyk, K., Gillespie, A., Maguire, S., Brough, R., Fachal, L., Michailidou, K., Bolla, M.K., Wang, Q., Dennis, J., Ahearn, T.U., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arndt, V., Aronson, K.J., Augustinsson, A., Becher, H., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Bogdanova, N.V., Bojesen, S.E., Brenner, H., Brucker, S.Y., Cai, Q.Y., Campa, D., Canzian, F., Castelao, J.E., Chan, T.L., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Choi, J.Y., Clarke, C.L., Collaborators, N., Colonna, S., Conroy, D.M., Couch, F.J., Cox, A., Cross, S.S., Czene, K., Daly, M.B., Devilee, P., Dork, T., Dossus, L., Dwek, M., Eccles, D.M., Ekici, A.B., Eliassen, A.H., Engel, C., Fasching, P.A., Figueroa, J., Flyger, H., Gago-Dominguez, M., Gao, C., Garcia-Closas, M., Garcia-Saenz, J.A., Ghoussaini, M., Giles, G.G., Goldberg, M.S., Gonzalez-Neira, A., Guenel, P., Gundert, M., Haeberle, L., Hahnen, E., Haiman, C.A., Hall, P., Hamann, U., Hartman, M., Hatse, S., Hauke, J., Hollestelle, A., Hoppe, R., Hopper, J.L., Hou, M.F., Ito, H., Iwasaki, M., Jager, A., Jakubowska, A., Janni, W., John, E.M., Joseph, V., Jung, A., Kaaks, R., Kang, D., Keeman, R., Khusnutdinova, E., Kim, S.W., Kosma, V.M., Kraft, P., Kristensen, V.N., Kubelka-Sabit, K., Kurian, A.W., Kwong, A., Lacey, J.V., Lambrechts, D., Larson, N.L., Larsson, S.C., Marchand, L. le, Lejbkowicz, F., Li, J.M., Long, J.R., Lophatananon, A., LubiNski, J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Matsuo, K., Mavroudis, D., Mayes, R., Menon, U., Milne, R.L., Taib, N.A.M., Muir, K., Muranen, T.A., Murphy, R.A., Nevanlinna, H., O'Brien, K.M., Offit, K., Olson, J.E., Olsson, H., Park, S.K., Park-Simon, T.W., Patel, A.V., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Presneau, N., Pylkas, K., Rack, B., Rennert, G., Romero, A., Ruebner, M., Rudiger, T., Saloustros, E., Sandler, D.P., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Shah, M., Shen, C.Y., Shu, X.O., Simard, J., Southey, M.C., Stone, J., Surowy, H., Swerdlow, A.J., Tamimi, R.M., Tapper, W.J., Taylor, J.A., Teo, S.H., Teras, L.R., Terry, M.B., Toland, A.E., Tomlinson, I., Truong, T., Tseng, C.C., Untch, M., Vachon, C.M., Ouweland, A.M.W. van den, Wang, S.S., Weinberg, C.R., Wendt, C., Winham, S.J., Winqvist, R., Wolk, A., Wu, A.H., Yamaji, T., Zheng, W., Ziogas, A., Pharoah, P.D.P., Dunning, A.M., Easton, D.F., Pettitt, S.J., Lord, C.J., Haider, S., Orr, N., Fletcher, O., kConFab Investigators, ABCTB Investigators, Medical Oncology, Clinical Genetics, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Biosciences, Dennis, Joe [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository

Subjects
Basic medicine, breast cancer risk, 0302 clinical medicine, Transcription (biology), Risk Factors, WIDE ASSOCIATION, TRANSCRIPTION, Promoter Regions, Genetic, Genetics (clinical), Sequence Deletion, Genetics, Genetics & Heredity, 0303 health sciences, Chromosome Mapping, 3. Good health, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 2, Pair 2, Female, Medical Genetics, Life Sciences & Biomedicine, Human, Tumor suppressor gene, SUSCEPTIBILITY LOCI, In silico, 3122 Cancers, Locus (genetics), Breast Neoplasms, Biology, Chromosomes, Article, Cell Line, RNAS, Promoter Regions, 03 medical and health sciences, functional annotation, risk locus, CRISPR-Cas Systems, Genetic Association Studies, Genetic Variation, Humans, Insulin-Like Growth Factor Binding Protein 5, Molecular Sequence Annotation, 11Q13, Genetic, SDG 3 - Good Health and Well-being, Enhancer, Transcription factor, 030304 developmental biology, Medicinsk genetik, Reporter gene, Science & Technology, IDENTIFICATION, Clinical medicine, Estrogen receptor alpha
Abstract

A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific transcription from the IGFBP5 promoter at both signals (30- to 40-fold increased expression by the putative regulatory element at signal 2, 2- to 3-fold by the putative regulatory element at signal 3). We further identified one of the five credible causal variants at signal 2, a 1.4 kb deletion (esv3594306), as the likely causal variant; the deletion allele of this variant was associated with an average additional increase in IGFBP5 expression of 1.3-fold (MCF-7) and 2.2-fold (T-47D). We propose a model in which the deletion allele of esv3594306 juxtaposes two transcription factor binding regions (annotated by estrogen receptor alpha ChIP-seq peaks) to generate a single extended regulatory element. This regulatory element increases cell-type-specific expression of the tumor suppressor gene IGFBP5 and, thereby, reduces risk of estrogen receptor-positive breast cancer (odds ratio = 0.77, 95% CI 0.74-0.81, p = 3.1 × 10-31). ispartof: AMERICAN JOURNAL OF HUMAN GENETICS vol:108 issue:7 pages:1190-1203 ispartof: location:United States status: published

Published
2021

125. Genomic features of Mycobacterium avium subsp. hominissuis isolated from pigs in Japan

Author

Anthony D. Baughn, Matsuo K, Tetsuo Asai, Tetsuya Komatsu, Tomotada Iwamoto, Kotaro Sawai, Yukiko Nishiuchi, Hasebe A, Shota Suganuma, Hideto Fukushi, Yoshida S, Maruyama F, Hirokazu Yano, Justice Opare Odoi, Mikihiko Kawai, Atsushi Ota, Kenji Ohya, Takayuki Wada, Tokuma Yanai, Manabu Ato, Ito T, and Kentaro Arikawa

Subjects
biology, biology.organism_classification, Mycobacterium, Microbiology
Abstract

Mycobacterium avium subsp. hominissuis (MAH) is one of the most important agents causing non-tuberculosis mycobacterial infection in humans and pigs. Genome analysis on MAH of human isolates has been proceeding, however, those of pigs are limited despite its potential source of infection to human. In the current study, we obtained 30 draft genome sequences of MAH of pigs reared in Japan. The 30 draft genomes consisted of 4,848,678 – 5,620,788 bp length, 4,652 – 5,388 coding genes and 46 – 75 (Med: 47) tRNAs. All isolates had restriction modification associated genes and 185 – 222 predicted virulence genes. Two isolates had tRNA arrays and one isolate had a clustered regularly interspaced short palindromic repeat (CRISPR) region. Our results will be useful for evaluation of the ecology of MAH by providing a foundation for genome-based epidemiological studies.

Published
2021

126. 792P Analysis of postoperative adjuvant chemotherapy in 102 patients with gastric-type mucinous carcinoma of the uterine cervix: A multi-institutional study

Author

Nishio, S., primary, Matsuo, K., additional, Nasu, H., additional, Murotani, K., additional, Mikami, Y., additional, Yaegashi, N., additional, Satoh, T., additional, Okamoto, A., additional, Ishikawa, M., additional, Miyamoto, T., additional, Mandai, M., additional, Takehara, K., additional, Yahata, H., additional, Takekuma, M., additional, and Ushijima, K., additional

Published
2021
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138. Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium.

Author

Morra A., Jung A.Y., Behrens S., Keeman R., Ahearn T.U., Anton-Culver H., Arndt V., Augustinsson A., Auvinen P.K., Beane Freeman L.E., Becher H., Beckmann M.W., Blomqvist C., Bojesen S.E., Bolla M.K., Brenner H., Briceno I., Brucker S.Y., Camp N.J., Campa D., Canzian F., Castelao J.E., Chanock S.J., Choi J.-Y., Clarke C.L., Couch F.J., Cox A., Cross S.S., Czene K., Dork T., Dunning A.M., Dwek M., Easton D.F., Eccles D.M., Egan K.M., Evans D.G., Fasching P.A., Flyger H., Gago-Dominguez M., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., Giles G.G., Grip M., Guenel P., Haiman C.A., Hakansson N., Hall P., Hamann U., Han S.N., Hart S.N., Hartman M., Heyworth J.S., Hoppe R., Hopper J.L., Hunter D.J., Ito H., Jager A., Jakimovska M., Jakubowska A., Janni W., Kaaks R., Kang D., Kapoor P.M., Kitahara C.M., Koutros S., Kraft P., Kristensen V.N., Lacey J.V., Lambrechts D., Le Marchand L., Li J., Lindblom A., Lubi-Nski J., Lush M., Mannermaa A., Manoochehri M., Margolin S., Mariapun S., Matsuo K., Mavroudis D., Milne R.L., Muranen T.A., Newman W.G., Noh D.-Y., Nordestgaard B.G., Obi N., Olshan A.F., Olsson H., Park-Simon T.-W., Petridis C., Pharoah P.D.P., Plaseska-Karanfilska D., Presneau N., Rashid M.U., Rennert G., Rennert H.S., Rhenius V., Romero A., Saloustros E., Sawyer E.J., Schneeweiss A., Schwentner L., Scott C., Shah M., Shen C.-Y., Shu X.-O., Southey M.C., Stram D.O., Tamimi R.M., Tapper W., Tollenaar R.A.E.M., Tomlinson I., Torres D., Troester M.A., Therese Truong, Vachon C.M., Wang Q., Wang S.S., Williams J.A., Winqvist R., Wolk A., Wu A.H., Yoo K.-Y., Yu J.-C., Zheng W., Ziogas A., Yang X.R., Eliassen A.H., Holmes M.D., Garcia-Closas M., Teo S.H., Schmidt M.K., Chang-Claude J., Morra A., Jung A.Y., Behrens S., Keeman R., Ahearn T.U., Anton-Culver H., Arndt V., Augustinsson A., Auvinen P.K., Beane Freeman L.E., Becher H., Beckmann M.W., Blomqvist C., Bojesen S.E., Bolla M.K., Brenner H., Briceno I., Brucker S.Y., Camp N.J., Campa D., Canzian F., Castelao J.E., Chanock S.J., Choi J.-Y., Clarke C.L., Couch F.J., Cox A., Cross S.S., Czene K., Dork T., Dunning A.M., Dwek M., Easton D.F., Eccles D.M., Egan K.M., Evans D.G., Fasching P.A., Flyger H., Gago-Dominguez M., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., Giles G.G., Grip M., Guenel P., Haiman C.A., Hakansson N., Hall P., Hamann U., Han S.N., Hart S.N., Hartman M., Heyworth J.S., Hoppe R., Hopper J.L., Hunter D.J., Ito H., Jager A., Jakimovska M., Jakubowska A., Janni W., Kaaks R., Kang D., Kapoor P.M., Kitahara C.M., Koutros S., Kraft P., Kristensen V.N., Lacey J.V., Lambrechts D., Le Marchand L., Li J., Lindblom A., Lubi-Nski J., Lush M., Mannermaa A., Manoochehri M., Margolin S., Mariapun S., Matsuo K., Mavroudis D., Milne R.L., Muranen T.A., Newman W.G., Noh D.-Y., Nordestgaard B.G., Obi N., Olshan A.F., Olsson H., Park-Simon T.-W., Petridis C., Pharoah P.D.P., Plaseska-Karanfilska D., Presneau N., Rashid M.U., Rennert G., Rennert H.S., Rhenius V., Romero A., Saloustros E., Sawyer E.J., Schneeweiss A., Schwentner L., Scott C., Shah M., Shen C.-Y., Shu X.-O., Southey M.C., Stram D.O., Tamimi R.M., Tapper W., Tollenaar R.A.E.M., Tomlinson I., Torres D., Troester M.A., Therese Truong, Vachon C.M., Wang Q., Wang S.S., Williams J.A., Winqvist R., Wolk A., Wu A.H., Yoo K.-Y., Yu J.-C., Zheng W., Ziogas A., Yang X.R., Eliassen A.H., Holmes M.D., Garcia-Closas M., Teo S.H., Schmidt M.K., and Chang-Claude J.

Abstract

Background: It is not known whether modifiable lifestyle factors that predict survival after invasive breast cancer differ by subtype. Method(s): We analyzed data for 121,435 women diagnosed with breast cancer from 67 studies in the Breast Cancer Association Consortium with 16,890 deaths (8,554 breast cancer specific) over 10 years. Cox regression was used to estimate associations between risk factors and 10-year all-cause mortality and breast cancer. specific mortality overall, by estrogen receptor (ER) status, and by intrinsic-like subtype. Result(s): There was no evidence of heterogeneous associations between risk factors and mortality by subtype (Padj > 0.30). The strongest associations were between all-cause mortality and BMI >=30 versus 18.5.25 kg/m2 [HR (95% confidence interval (CI), 1.19 (1.06-1.34)]; current versus never smoking [1.37 (1.27-1.47)], high versus low physical activity [0.43 (0.21-0.86)], age >=30 years versus <20 years at first pregnancy [0.79 (0.72-0.86)]; >0.<5 years versus >=10 years since last full-term birth [1.31 (1.11-1.55)]; ever versus never use of oral contraceptives [0.91 (0.87-0.96)]; ever versus never use of menopausal hormone therapy, including current estrogen.progestin therapy [0.61 (0.54.0.69)]. Similar associations with breast cancer mortality were weaker; for example, 1.11 (1.02-1.21) for current versus never smoking. Conclusion(s): We confirm associations between modifiable lifestyle factors and 10-year all-cause mortality. There was no strong evidence that associations differed by ER status or intrinsic-like subtype. Impact: Given the large dataset and lack of evidence that associations between modifiable risk factors and 10-year mortality differed by subtype, these associations could be cautiously used in prognostication models to inform patient-centered care.Copyright © 2021 American Association for Cancer Research.

Published
2021

139. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.

Author

Baxter J.S., Johnson N., Tomczyk K., Gillespie A., Maguire S., Brough R., Fachal L., Michailidou K., Bolla M.K., Wang Q., Dennis J., Ahearn T.U., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Augustinsson A., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bogdanova N.V., Bojesen S.E., Brenner H., Brucker S.Y., Cai Q., Campa D., Canzian F., Castelao J.E., Chan T.L., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Choi J.-Y., Clarke C.L., Colonna S., Conroy D.M., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., Dossus L., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Engel C., Fasching P.A., Figueroa J., Flyger H., Gago-Dominguez M., Gao C., Garcia-Closas M., Garcia-Saenz J.A., Ghoussaini M., Giles G.G., Goldberg M.S., Gonzalez-Neira A., Guenel P., Gundert M., Haeberle L., Hahnen E., Haiman C.A., Hall P., Hamann U., Hartman M., Hatse S., Hauke J., Hollestelle A., Hoppe R., Hopper J.L., Hou M.-F., Ito H., Iwasaki M., Jager A., Jakubowska A., Janni W., John E.M., Joseph V., Jung A., Kaaks R., Kang D., Keeman R., Khusnutdinova E., Kim S.-W., Kosma V.-M., Kraft P., Kristensen V.N., Kubelka-Sabit K., Kurian A.W., Kwong A., Lacey J.V., Lambrechts D., Larson N.L., Larsson S.C., Le Marchand L., Lejbkowicz F., Li J., Long J., Lophatananon A., Lubinski J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Matsuo K., Mavroudis D., Mayes R., Menon U., Milne R.L., Mohd Taib N.A., Muir K., Muranen T.A., Murphy R.A., Nevanlinna H., O'Brien K.M., Offit K., Olson J.E., Olsson H., Park S.K., Park-Simon T.-W., Patel A.V., Peterlongo P., Peto J., Plaseska-Karanfilska D., Presneau N., Pylkas K., Rack B., Rennert G., Romero A., Ruebner M., Rudiger T., Saloustros E., Sandler D.P., Sawyer E.J., Schmidt M.K., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Shah M., Shen C.-Y., Shu X.-O., Simard J., Southey M.C., Stone J., Surowy H., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Teo S.H., Teras L.R., Terry M.B., Toland A.E., Tomlinson I., Truong T., Tseng C.-C., Untch M., Vachon C.M., van den Ouweland A.M.W., Wang S.S., Weinberg C.R., Wendt C., Winham S.J., Winqvist R., Wolk A., Wu A.H., Yamaji T., Zheng W., Ziogas A., Pharoah P.D.P., Dunning A.M., Easton D.F., Pettitt S.J., Lord C.J., Haider S., Orr N., Fletcher O., Baxter J.S., Johnson N., Tomczyk K., Gillespie A., Maguire S., Brough R., Fachal L., Michailidou K., Bolla M.K., Wang Q., Dennis J., Ahearn T.U., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Augustinsson A., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bogdanova N.V., Bojesen S.E., Brenner H., Brucker S.Y., Cai Q., Campa D., Canzian F., Castelao J.E., Chan T.L., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Choi J.-Y., Clarke C.L., Colonna S., Conroy D.M., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., Dossus L., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Engel C., Fasching P.A., Figueroa J., Flyger H., Gago-Dominguez M., Gao C., Garcia-Closas M., Garcia-Saenz J.A., Ghoussaini M., Giles G.G., Goldberg M.S., Gonzalez-Neira A., Guenel P., Gundert M., Haeberle L., Hahnen E., Haiman C.A., Hall P., Hamann U., Hartman M., Hatse S., Hauke J., Hollestelle A., Hoppe R., Hopper J.L., Hou M.-F., Ito H., Iwasaki M., Jager A., Jakubowska A., Janni W., John E.M., Joseph V., Jung A., Kaaks R., Kang D., Keeman R., Khusnutdinova E., Kim S.-W., Kosma V.-M., Kraft P., Kristensen V.N., Kubelka-Sabit K., Kurian A.W., Kwong A., Lacey J.V., Lambrechts D., Larson N.L., Larsson S.C., Le Marchand L., Lejbkowicz F., Li J., Long J., Lophatananon A., Lubinski J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Matsuo K., Mavroudis D., Mayes R., Menon U., Milne R.L., Mohd Taib N.A., Muir K., Muranen T.A., Murphy R.A., Nevanlinna H., O'Brien K.M., Offit K., Olson J.E., Olsson H., Park S.K., Park-Simon T.-W., Patel A.V., Peterlongo P., Peto J., Plaseska-Karanfilska D., Presneau N., Pylkas K., Rack B., Rennert G., Romero A., Ruebner M., Rudiger T., Saloustros E., Sandler D.P., Sawyer E.J., Schmidt M.K., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Shah M., Shen C.-Y., Shu X.-O., Simard J., Southey M.C., Stone J., Surowy H., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Teo S.H., Teras L.R., Terry M.B., Toland A.E., Tomlinson I., Truong T., Tseng C.-C., Untch M., Vachon C.M., van den Ouweland A.M.W., Wang S.S., Weinberg C.R., Wendt C., Winham S.J., Winqvist R., Wolk A., Wu A.H., Yamaji T., Zheng W., Ziogas A., Pharoah P.D.P., Dunning A.M., Easton D.F., Pettitt S.J., Lord C.J., Haider S., Orr N., and Fletcher O.

Abstract

A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific transcription from the IGFBP5 promoter at both signals (30- to 40-fold increased expression by the putative regulatory element at signal 2, 2- to 3-fold by the putative regulatory element at signal 3). We further identified one of the five credible causal variants at signal 2, a 1.4 kb deletion (esv3594306), as the likely causal variant; the deletion allele of this variant was associated with an average additional increase in IGFBP5 expression of 1.3-fold (MCF-7) and 2.2-fold (T-47D). We propose a model in which the deletion allele of esv3594306 juxtaposes two transcription factor binding regions (annotated by estrogen receptor alpha ChIP-seq peaks) to generate a single extended regulatory element. This regulatory element increases cell-type-specific expression of the tumor suppressor gene IGFBP5 and, thereby, reduces risk of estrogen receptor-positive breast cancer (odds ratio = 0.77, 95% CI 0.74-0.81, p = 3.1 x 10-31).Copyright © 2021 The Authors

Published
2021

140. Gene-environment interactions relevant to estrogen and risk of breast cancer: Can gene-environment interactions be detected only among candidate snps from genome-wide association studies?.

Author

Park J.Y., Choi J.-Y., Choi J., Chung S., Song N., Park S.K., Han W., Noh D.-Y., Ahn S.-H., Lee J.W., Kim M.K., Jee S.H., Wen W., Bolla M.K., Wang Q., Dennis J., Michailidou K., Shah M., Conroy D.M., Harrington P.A., Mayes R., Czene K., Hall P., Teras L.R., Patel A.V., Couch F.J., Olson J.E., Sawyer E.J., Roylance R., Bojesen S.E., Flyger H., Lambrechts D., Baten A., Matsuo K., Ito H., Guenel P., Truong T., Keeman R., Schmidt M.K., Wu A.H., Tseng C.-C., Cox A., Cross S.S., Investigators K., Andrulis I.L., Hopper J.L., Southey M.C., Wu P.-E., Shen C.-Y., Fasching P.A., Ekici A.B., Muir K., Lophatananon A., Brenner H., Arndt V., Jones M.E., Swerdlow A.J., Hoppe R., Ko Y.-D., Hartman M., Li J., Mannermaa A., Hartikainen J.M., Benitez J., Gonzalez-Neira A., Haiman C.A., Dork T., Bogdanova N.V., Teo S.H., Taib N.A.M., Fletcher O., Johnson N., Grip M., Winqvist R., Blomqvist C., Nevanlinna H., Lindblom A., Wendt C., Kristensen V.N., Collaborators N.B.C.S., Tollenaar R.A.E.M., Heemskerk-Gerritsen B.A.M., Radice P., Bonanni B., Hamann U., Manoochehri M., Lacey J.V., Martinez M.E., Dunning A.M., Pharoah P.D.P., Easton D.F., Yoo K.-Y., Kang D., Park J.Y., Choi J.-Y., Choi J., Chung S., Song N., Park S.K., Han W., Noh D.-Y., Ahn S.-H., Lee J.W., Kim M.K., Jee S.H., Wen W., Bolla M.K., Wang Q., Dennis J., Michailidou K., Shah M., Conroy D.M., Harrington P.A., Mayes R., Czene K., Hall P., Teras L.R., Patel A.V., Couch F.J., Olson J.E., Sawyer E.J., Roylance R., Bojesen S.E., Flyger H., Lambrechts D., Baten A., Matsuo K., Ito H., Guenel P., Truong T., Keeman R., Schmidt M.K., Wu A.H., Tseng C.-C., Cox A., Cross S.S., Investigators K., Andrulis I.L., Hopper J.L., Southey M.C., Wu P.-E., Shen C.-Y., Fasching P.A., Ekici A.B., Muir K., Lophatananon A., Brenner H., Arndt V., Jones M.E., Swerdlow A.J., Hoppe R., Ko Y.-D., Hartman M., Li J., Mannermaa A., Hartikainen J.M., Benitez J., Gonzalez-Neira A., Haiman C.A., Dork T., Bogdanova N.V., Teo S.H., Taib N.A.M., Fletcher O., Johnson N., Grip M., Winqvist R., Blomqvist C., Nevanlinna H., Lindblom A., Wendt C., Kristensen V.N., Collaborators N.B.C.S., Tollenaar R.A.E.M., Heemskerk-Gerritsen B.A.M., Radice P., Bonanni B., Hamann U., Manoochehri M., Lacey J.V., Martinez M.E., Dunning A.M., Pharoah P.D.P., Easton D.F., Yoo K.-Y., and Kang D.

Abstract

In this study we aim to examine gene-environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE2df model (p-2df = 1.2 x 10-3 ). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor allele G. The second GxE was shown between rs851998 near ESR1 and height in the GE2df model (p-2df = 1.1 x 10-4 ). Height taller than 160 cm was associated with a high risk of breast cancer, and the risk increased when the minor allele was added. The findings were not replicated in the BCAC. These results would suggest specificity in Koreans for breast cancer risk.Copyright © 2021 by the authors. Licensee MDPI, Basel, Switzerland.

Published
2021

141. Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium

Author

Morra, A, Jung, AY, Behrens, S, Keeman, R, Ahearn, TU, Anton-Culver, H, Arndt, V, Augustinsson, A, Auvinen, PK, Freeman, LEB, Becher, H, Beckmann, MW, Blomqvist, C, Bojesen, SE, Bolla, MK, Brenner, H, Briceno, I, Brucker, SY, Camp, NJ, Campa, D, Canzian, F, Castelao, JE, Chanock, SJ, Choi, J-Y, Clarke, CL, Couch, FJ, Cox, A, Cross, SS, Czene, K, Dork, T, Dunning, AM, Dwek, M, Easton, DF, Eccles, DM, Egan, KM, Evans, DG, Fasching, PA, Flyger, H, Gago-Dominguez, M, Gapstur, SM, Garcia-Saenz, JA, Gaudet, MM, Giles, GG, Grip, M, Guenel, P, Haiman, CA, Hakansson, N, Hall, P, Hamann, U, Han, SN, Hart, SN, Hartman, M, Heyworth, JS, Hoppe, R, Hopper, JL, Hunter, DJ, Ito, H, Jager, A, Jakimovska, M, Jakubowska, A, Janni, W, Kaaks, R, Kang, D, Kapoor, PM, Kitahara, CM, Koutros, S, Kraft, P, Kristensen, VN, Lacey, J, Lambrechts, D, Le Marchand, L, Li, J, Lindblom, A, Lush, M, Mannermaa, A, Manoochehri, M, Margolin, S, Mariapun, S, Matsuo, K, Mavroudis, D, Milne, RL, Muranen, TA, Newman, WG, Noh, D-Y, Nordestgaard, BG, Obi, N, Olshan, AF, Olsson, H, Park-Simon, T-W, Petridis, C, Pharoah, PDP, Plaseska-Karanfilska, D, Presneau, N, Rashid, MU, Rennert, G, Rennert, HS, Rhenius, V, Romero, A, Saloustros, E, Sawyer, EJ, Schneeweiss, A, Schwentner, L, Scott, C, Shah, M, Shen, C-Y, Shu, X-O, Southey, MC, Stram, DO, Tamimi, RM, Tapper, W, Tollenaar, RAEM, Tomlinson, I, Torres, D, Troester, MA, Truong, T, Vachon, CM, Wang, Q, Wang, SS, Williams, JA, Winqvist, R, Wolk, A, Wu, AH, Yoo, K-Y, Yu, J-C, Zheng, W, Ziogas, A, Yang, XR, Eliassen, AH, Holmes, MD, Garcia-Closas, M, Teo, SH, Schmidt, MK, Chang-Claude, J, Morra, A, Jung, AY, Behrens, S, Keeman, R, Ahearn, TU, Anton-Culver, H, Arndt, V, Augustinsson, A, Auvinen, PK, Freeman, LEB, Becher, H, Beckmann, MW, Blomqvist, C, Bojesen, SE, Bolla, MK, Brenner, H, Briceno, I, Brucker, SY, Camp, NJ, Campa, D, Canzian, F, Castelao, JE, Chanock, SJ, Choi, J-Y, Clarke, CL, Couch, FJ, Cox, A, Cross, SS, Czene, K, Dork, T, Dunning, AM, Dwek, M, Easton, DF, Eccles, DM, Egan, KM, Evans, DG, Fasching, PA, Flyger, H, Gago-Dominguez, M, Gapstur, SM, Garcia-Saenz, JA, Gaudet, MM, Giles, GG, Grip, M, Guenel, P, Haiman, CA, Hakansson, N, Hall, P, Hamann, U, Han, SN, Hart, SN, Hartman, M, Heyworth, JS, Hoppe, R, Hopper, JL, Hunter, DJ, Ito, H, Jager, A, Jakimovska, M, Jakubowska, A, Janni, W, Kaaks, R, Kang, D, Kapoor, PM, Kitahara, CM, Koutros, S, Kraft, P, Kristensen, VN, Lacey, J, Lambrechts, D, Le Marchand, L, Li, J, Lindblom, A, Lush, M, Mannermaa, A, Manoochehri, M, Margolin, S, Mariapun, S, Matsuo, K, Mavroudis, D, Milne, RL, Muranen, TA, Newman, WG, Noh, D-Y, Nordestgaard, BG, Obi, N, Olshan, AF, Olsson, H, Park-Simon, T-W, Petridis, C, Pharoah, PDP, Plaseska-Karanfilska, D, Presneau, N, Rashid, MU, Rennert, G, Rennert, HS, Rhenius, V, Romero, A, Saloustros, E, Sawyer, EJ, Schneeweiss, A, Schwentner, L, Scott, C, Shah, M, Shen, C-Y, Shu, X-O, Southey, MC, Stram, DO, Tamimi, RM, Tapper, W, Tollenaar, RAEM, Tomlinson, I, Torres, D, Troester, MA, Truong, T, Vachon, CM, Wang, Q, Wang, SS, Williams, JA, Winqvist, R, Wolk, A, Wu, AH, Yoo, K-Y, Yu, J-C, Zheng, W, Ziogas, A, Yang, XR, Eliassen, AH, Holmes, MD, Garcia-Closas, M, Teo, SH, Schmidt, MK, and Chang-Claude, J

Abstract

BACKGROUND: It is not known whether modifiable lifestyle factors that predict survival after invasive breast cancer differ by subtype. METHODS: We analyzed data for 121,435 women diagnosed with breast cancer from 67 studies in the Breast Cancer Association Consortium with 16,890 deaths (8,554 breast cancer specific) over 10 years. Cox regression was used to estimate associations between risk factors and 10-year all-cause mortality and breast cancer-specific mortality overall, by estrogen receptor (ER) status, and by intrinsic-like subtype. RESULTS: There was no evidence of heterogeneous associations between risk factors and mortality by subtype (P adj > 0.30). The strongest associations were between all-cause mortality and BMI ≥30 versus 18.5-25 kg/m2 [HR (95% confidence interval (CI), 1.19 (1.06-1.34)]; current versus never smoking [1.37 (1.27-1.47)], high versus low physical activity [0.43 (0.21-0.86)], age ≥30 years versus <20 years at first pregnancy [0.79 (0.72-0.86)]; >0-<5 years versus ≥10 years since last full-term birth [1.31 (1.11-1.55)]; ever versus never use of oral contraceptives [0.91 (0.87-0.96)]; ever versus never use of menopausal hormone therapy, including current estrogen-progestin therapy [0.61 (0.54-0.69)]. Similar associations with breast cancer mortality were weaker; for example, 1.11 (1.02-1.21) for current versus never smoking. CONCLUSIONS: We confirm associations between modifiable lifestyle factors and 10-year all-cause mortality. There was no strong evidence that associations differed by ER status or intrinsic-like subtype. IMPACT: Given the large dataset and lack of evidence that associations between modifiable risk factors and 10-year mortality differed by subtype, these associations could be cautiously used in prognostication models to inform patient-centered care.

Published
2021

142. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Author

Baxter, JS, Johnson, N, Tomczyk, K, Gillespie, A, Maguire, S, Brough, R, Fachal, L, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Augustinsson, A, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, N, Bojesen, SE, Brenner, H, Brucker, SY, Cai, Q, Campa, D, Canzian, F, Castelao, JE, Chan, TL, Chang-Claude, J, Chanock, SJ, Chenevix-Trench, G, Choi, J-Y, Clarke, CL, Collaborators, N, Colonna, S, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Doerk, T, Dossus, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Engel, C, Fasching, PA, Figueroa, J, Flyger, H, Gago-Dominguez, M, Gao, C, Garcia-Closas, M, Garcia-Saenz, JA, Ghoussaini, M, Giles, GG, Goldberg, MS, Gonzalez-Neira, A, Guenel, P, Guendert, M, Haeberle, L, Hahnen, E, Haiman, CA, Hall, P, Hamann, U, Hartman, M, Hatse, S, Hauke, J, Hollestelle, A, Hoppe, R, Hopper, JL, Hou, M-F, Ito, H, Iwasaki, M, Jager, A, Jakubowska, A, Janni, W, John, EM, Joseph, V, Jung, A, Kaaks, R, Kang, D, Keeman, R, Khusnutdinova, E, Kim, S-W, Kosma, V-M, Kraft, P, Kristensen, VN, Kubelka-Sabit, K, Kurian, AW, Kwong, A, Lacey, J, Lambrechts, D, Larson, NL, Larsson, SC, Le Marchand, L, Lejbkowicz, F, Li, J, Long, J, Lophatananon, A, LubiNski, J, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Matsuo, K, Mavroudis, D, Mayes, R, Menon, U, Milne, RL, Taib, NAM, Muir, K, Muranen, TA, Murphy, RA, Nevanlinna, H, O'Brien, KM, Offit, K, Olson, JE, Olsson, H, Park, SK, Park-Simon, T-W, Patel, A, Peterlongo, P, Peto, J, Plaseska-Karanfilska, D, Presneau, N, Pylkas, K, Rack, B, Rennert, G, Romero, A, Ruebner, M, Ruediger, T, Saloustros, E, Sandler, DP, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Shah, M, Shen, C-Y, Shu, X-O, Simard, J, Southey, MC, Stone, J, Surowy, H, Swerdlow, AJ, Tamimi, RM, Tapper, WJ, Taylor, JA, Teo, SH, Teras, LR, Terry, MB, Toland, AE, Tomlinson, I, Truong, T, Tseng, C-C, Untch, M, Vachon, CM, van den Ouweland, AMW, Wang, SS, Weinberg, CR, Wendt, C, Winham, SJ, Winqvist, R, Wolk, A, Wu, AH, Yamaji, T, Zheng, W, Ziogas, A, Pharoah, PDP, Dunning, AM, Easton, DF, Pettitt, SJ, Lord, CJ, Haider, S, Orr, N, Fletcher, O, Baxter, JS, Johnson, N, Tomczyk, K, Gillespie, A, Maguire, S, Brough, R, Fachal, L, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Augustinsson, A, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, N, Bojesen, SE, Brenner, H, Brucker, SY, Cai, Q, Campa, D, Canzian, F, Castelao, JE, Chan, TL, Chang-Claude, J, Chanock, SJ, Chenevix-Trench, G, Choi, J-Y, Clarke, CL, Collaborators, N, Colonna, S, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Doerk, T, Dossus, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Engel, C, Fasching, PA, Figueroa, J, Flyger, H, Gago-Dominguez, M, Gao, C, Garcia-Closas, M, Garcia-Saenz, JA, Ghoussaini, M, Giles, GG, Goldberg, MS, Gonzalez-Neira, A, Guenel, P, Guendert, M, Haeberle, L, Hahnen, E, Haiman, CA, Hall, P, Hamann, U, Hartman, M, Hatse, S, Hauke, J, Hollestelle, A, Hoppe, R, Hopper, JL, Hou, M-F, Ito, H, Iwasaki, M, Jager, A, Jakubowska, A, Janni, W, John, EM, Joseph, V, Jung, A, Kaaks, R, Kang, D, Keeman, R, Khusnutdinova, E, Kim, S-W, Kosma, V-M, Kraft, P, Kristensen, VN, Kubelka-Sabit, K, Kurian, AW, Kwong, A, Lacey, J, Lambrechts, D, Larson, NL, Larsson, SC, Le Marchand, L, Lejbkowicz, F, Li, J, Long, J, Lophatananon, A, LubiNski, J, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Matsuo, K, Mavroudis, D, Mayes, R, Menon, U, Milne, RL, Taib, NAM, Muir, K, Muranen, TA, Murphy, RA, Nevanlinna, H, O'Brien, KM, Offit, K, Olson, JE, Olsson, H, Park, SK, Park-Simon, T-W, Patel, A, Peterlongo, P, Peto, J, Plaseska-Karanfilska, D, Presneau, N, Pylkas, K, Rack, B, Rennert, G, Romero, A, Ruebner, M, Ruediger, T, Saloustros, E, Sandler, DP, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Shah, M, Shen, C-Y, Shu, X-O, Simard, J, Southey, MC, Stone, J, Surowy, H, Swerdlow, AJ, Tamimi, RM, Tapper, WJ, Taylor, JA, Teo, SH, Teras, LR, Terry, MB, Toland, AE, Tomlinson, I, Truong, T, Tseng, C-C, Untch, M, Vachon, CM, van den Ouweland, AMW, Wang, SS, Weinberg, CR, Wendt, C, Winham, SJ, Winqvist, R, Wolk, A, Wu, AH, Yamaji, T, Zheng, W, Ziogas, A, Pharoah, PDP, Dunning, AM, Easton, DF, Pettitt, SJ, Lord, CJ, Haider, S, Orr, N, and Fletcher, O

Abstract

A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific transcription from the IGFBP5 promoter at both signals (30- to 40-fold increased expression by the putative regulatory element at signal 2, 2- to 3-fold by the putative regulatory element at signal 3). We further identified one of the five credible causal variants at signal 2, a 1.4 kb deletion (esv3594306), as the likely causal variant; the deletion allele of this variant was associated with an average additional increase in IGFBP5 expression of 1.3-fold (MCF-7) and 2.2-fold (T-47D). We propose a model in which the deletion allele of esv3594306 juxtaposes two transcription factor binding regions (annotated by estrogen receptor alpha ChIP-seq peaks) to generate a single extended regulatory element. This regulatory element increases cell-type-specific expression of the tumor suppressor gene IGFBP5 and, thereby, reduces risk of estrogen receptor-positive breast cancer (odds ratio = 0.77, 95% CI 0.74-0.81, p = 3.1 × 10-31).

Published
2021

143. Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?

Author

Park, J, Choi, J-Y, Choi, J, Chung, S, Song, N, Park, SK, Han, W, Noh, D-Y, Ahn, S-H, Lee, JW, Kim, MK, Jee, SH, Wen, W, Bolla, MK, Wang, Q, Dennis, J, Michailidou, K, Shah, M, Conroy, DM, Harrington, PA, Mayes, R, Czene, K, Hall, P, Teras, LR, Patel, AV, Couch, FJ, Olson, JE, Sawyer, EJ, Roylance, R, Bojesen, SE, Flyger, H, Lambrechts, D, Baten, A, Matsuo, K, Ito, H, Guenel, P, Truong, T, Keeman, R, Schmidt, MK, Wu, AH, Tseng, C-C, Cox, A, Cross, SS, Andrulis, IL, Hopper, JL, Southey, MC, Wu, P-E, Shen, C-Y, Fasching, PA, Ekici, AB, Muir, K, Lophatananon, A, Brenner, H, Arndt, V, Jones, ME, Swerdlow, AJ, Hoppe, R, Ko, Y-D, Hartman, M, Li, J, Mannermaa, A, Hartikainen, JM, Benitez, J, Gonzalez-Neira, A, Haiman, CA, Doerk, T, Bogdanova, NV, Teo, SH, Mohd Taib, NA, Fletcher, O, Johnson, N, Grip, M, Winqvist, R, Blomqvist, C, Nevanlinna, H, Lindblom, A, Wendt, C, Kristensen, VN, Tollenaar, RAEM, Heemskerk-Gerritsen, BAM, Radice, P, Bonanni, B, Hamann, U, Manoochehri, M, Lacey, JV, Martinez, ME, Dunning, AM, Pharoah, PDP, Easton, DF, Yoo, K-Y, Kang, D, Park, J, Choi, J-Y, Choi, J, Chung, S, Song, N, Park, SK, Han, W, Noh, D-Y, Ahn, S-H, Lee, JW, Kim, MK, Jee, SH, Wen, W, Bolla, MK, Wang, Q, Dennis, J, Michailidou, K, Shah, M, Conroy, DM, Harrington, PA, Mayes, R, Czene, K, Hall, P, Teras, LR, Patel, AV, Couch, FJ, Olson, JE, Sawyer, EJ, Roylance, R, Bojesen, SE, Flyger, H, Lambrechts, D, Baten, A, Matsuo, K, Ito, H, Guenel, P, Truong, T, Keeman, R, Schmidt, MK, Wu, AH, Tseng, C-C, Cox, A, Cross, SS, Andrulis, IL, Hopper, JL, Southey, MC, Wu, P-E, Shen, C-Y, Fasching, PA, Ekici, AB, Muir, K, Lophatananon, A, Brenner, H, Arndt, V, Jones, ME, Swerdlow, AJ, Hoppe, R, Ko, Y-D, Hartman, M, Li, J, Mannermaa, A, Hartikainen, JM, Benitez, J, Gonzalez-Neira, A, Haiman, CA, Doerk, T, Bogdanova, NV, Teo, SH, Mohd Taib, NA, Fletcher, O, Johnson, N, Grip, M, Winqvist, R, Blomqvist, C, Nevanlinna, H, Lindblom, A, Wendt, C, Kristensen, VN, Tollenaar, RAEM, Heemskerk-Gerritsen, BAM, Radice, P, Bonanni, B, Hamann, U, Manoochehri, M, Lacey, JV, Martinez, ME, Dunning, AM, Pharoah, PDP, Easton, DF, Yoo, K-Y, and Kang, D

Abstract

In this study we aim to examine gene-environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE|2df model (p-2df = 1.2 × 10-3). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor allele G. The second GxE was shown between rs851998 near ESR1 and height in the GE|2df model (p-2df = 1.1 × 10-4). Height taller than 160 cm was associated with a high risk of breast cancer, and the risk increased when the minor allele was added. The findings were not replicated in the BCAC. These results would suggest specificity in Koreans for breast cancer risk.

Published
2021

144. Gene-environment interactions relevant to estrogen and risk of breast cancer:can gene-environment interactions be detected only among candidate SNPs from genome-wide association studies?

Author

Park, J. (JooYong), Choi, J.-Y. (Ji-Yeob), Choi, J. (Jaesung), Chung, S. (Seokang), Song, N. (Nan), Park, S. K. (Sue K.), Han, W. (Wonshik), Noh, D.-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Lee, J. W. (Jong Won), Kim, M. K. (Mi Kyung), Jee, S. H. (Sun Ha), Wen, W. (Wanqing), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Shah, M. (Mitul), Conroy, D. M. (Don M.), Harrington, P. A. (Patricia A.), Mayes, R. (Rebecca), Czene, K. (Kamila), Hall, P. (Per), Teras, L. R. (Lauren R.), Patel, A. V. (Alpa V.), Couch, F. J. (Fergus J.), Olson, J. E. (Janet E.), Sawyer, E. J. (Elinor J.), Roylance, R. (Rebecca), Bojesen, S. E. (Stig E.), Flyger, H. (Henrik), Lambrechts, D. (Diether), Baten, A. (Adinda), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Guenel, P. (Pascal), Truong, T. (Therese), Keeman, R. (Renske), Schmidt, M. K. (Marjanka K.), Wu, A. H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Cox, A. (Angela), Cross, S. S. (Simon S.), Andrulis, I. L. (Irene L.), Hopper, J. L. (John L.), Southey, M. C. (Melissa C.), Wu, P.-E. (Pei-Ei), Shen, C.-Y. (Chen-Yang), Fasching, P. A. (Peter A.), Ekici, A. B. (Arif B.), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Brenner, H. (Hermann), Arndt, V. (Volker), Jones, M. E. (Michael E.), Swerdlow, A. J. (Anthony J.), Hoppe, R. (Reiner), Ko, Y.-D. (Yon-Dschun), Hartman, M. (Mikael), Li, J. (Jingmei), Mannermaa, A. (Arto), Hartikainen, J. M. (Jaana M.), Benitez, J. (Javier), Gonzalez-Neira, A. (Anna), Haiman, C. A. (Christopher A.), Doerk, T. (Thilo), Bogdanova, N. V. (Natalia V.), Teo, S. H. (Soo Hwang), Mohd Taib, N. A. (Nur Aishah), Fletcher, O. (Olivia), Johnson, N. (Nichola), Grip, M. (Mervi), Winqvist, R. (Robert), Blomqvist, C. (Carl), Nevanlinna, H. (Heli), Lindblom, A. (Annika), Wendt, C. (Camilla), Kristensen, V. N. (Vessela N.), Tollenaar, R. A. (Rob A. E. M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Radice, P. (Paolo), Bonanni, B. (Bernardo), Hamann, U. (Ute), Manoochehri, M. (Mehdi), Lacey, J. V. (James V.), Martinez, M. E. (Maria Elena), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Yoo, K.-Y. (Keun-Young), Kang, D. (Daehee), Park, J. (JooYong), Choi, J.-Y. (Ji-Yeob), Choi, J. (Jaesung), Chung, S. (Seokang), Song, N. (Nan), Park, S. K. (Sue K.), Han, W. (Wonshik), Noh, D.-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Lee, J. W. (Jong Won), Kim, M. K. (Mi Kyung), Jee, S. H. (Sun Ha), Wen, W. (Wanqing), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Shah, M. (Mitul), Conroy, D. M. (Don M.), Harrington, P. A. (Patricia A.), Mayes, R. (Rebecca), Czene, K. (Kamila), Hall, P. (Per), Teras, L. R. (Lauren R.), Patel, A. V. (Alpa V.), Couch, F. J. (Fergus J.), Olson, J. E. (Janet E.), Sawyer, E. J. (Elinor J.), Roylance, R. (Rebecca), Bojesen, S. E. (Stig E.), Flyger, H. (Henrik), Lambrechts, D. (Diether), Baten, A. (Adinda), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Guenel, P. (Pascal), Truong, T. (Therese), Keeman, R. (Renske), Schmidt, M. K. (Marjanka K.), Wu, A. H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Cox, A. (Angela), Cross, S. S. (Simon S.), Andrulis, I. L. (Irene L.), Hopper, J. L. (John L.), Southey, M. C. (Melissa C.), Wu, P.-E. (Pei-Ei), Shen, C.-Y. (Chen-Yang), Fasching, P. A. (Peter A.), Ekici, A. B. (Arif B.), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Brenner, H. (Hermann), Arndt, V. (Volker), Jones, M. E. (Michael E.), Swerdlow, A. J. (Anthony J.), Hoppe, R. (Reiner), Ko, Y.-D. (Yon-Dschun), Hartman, M. (Mikael), Li, J. (Jingmei), Mannermaa, A. (Arto), Hartikainen, J. M. (Jaana M.), Benitez, J. (Javier), Gonzalez-Neira, A. (Anna), Haiman, C. A. (Christopher A.), Doerk, T. (Thilo), Bogdanova, N. V. (Natalia V.), Teo, S. H. (Soo Hwang), Mohd Taib, N. A. (Nur Aishah), Fletcher, O. (Olivia), Johnson, N. (Nichola), Grip, M. (Mervi), Winqvist, R. (Robert), Blomqvist, C. (Carl), Nevanlinna, H. (Heli), Lindblom, A. (Annika), Wendt, C. (Camilla), Kristensen, V. N. (Vessela N.), Tollenaar, R. A. (Rob A. E. M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Radice, P. (Paolo), Bonanni, B. (Bernardo), Hamann, U. (Ute), Manoochehri, M. (Mehdi), Lacey, J. V. (James V.), Martinez, M. E. (Maria Elena), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Yoo, K.-Y. (Keun-Young), and Kang, D. (Daehee)

Abstract

In this study we aim to examine gene–environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE|2df model (p-2df = 1.2 × 10−3). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor allele G. The second GxE was shown between rs851998 near ESR1 and height in the GE|2df model (p-2df = 1.1 × 10−4). Height taller than 160 cm was associated with a high risk of breast cancer, and the risk increased when the minor allele was added. The findings were not replicated in the BCAC. These results would suggest specificity in Koreans for breast cancer risk.

Published
2021

145. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Author

Baxter, J. S. (Joseph S.), Johnson, N. (Nichola), Tomczyk, K. (Katarzyna), Gillespie, A. (Andrea), Maguire, S. (Sarah), Brough, R. (Rachel), Fachal, L. (Laura), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Cai, Q. (Qiuyin), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chan, T. L. (Tsun L.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Choi, J.-Y. (Ji-Yeob), Clarke, C. L. (Christine L.), Collaborators, N. (Nbcs), Colonna, S. (Sarah), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), Dossus, L. (Laure), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gao, C. (Chi), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Ghoussaini, M. (Maya), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Guendert, M. (Melanie), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hatse, S. (Sigrid), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hou, M.-F. (Ming-Feng), Ito, H. (Hidemi), Iwasaki, M. (Motoki), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Joseph, V. (Vijai), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kang, D. (Daehee), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kim, S.-W. (Sung-Won), Kosma, V.-M. (Veli-Matti), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kwong, A. (Ava), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Larson, N. L. (Nicole L.), Larsson, S. C. (Susanna C.), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Li, J. (Jingmei), Long, J. (Jirong), Lophatananon, A. (Artitaya), LubiNski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Matsuo, K. (Keitaro), Mavroudis, D. (Dimitrios), Mayes, R. (Rebecca), Menon, U. (Usha), Milne, R. L. (Roger L.), Taib, N. A. (Nur Aishah Mohd), Muir, K. (Kenneth), Muranen, T. A. (Taru A.), Murphy, R. A. (Rachel A.), Nevanlinna, H. (Heli), O'Brien, K. M. (Katie M.), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Park, S. K. (Sue K.), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Presneau, N. (Nadege), Pylkäs, K. (Katri), Rack, B. (Brigitte), Rennert, G. (Gad), Romero, A. (Atocha), Ruebner, M. (Matthias), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teo, S. H. (Soo Hwang), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Toland, A. E. (Amanda E.), Tomlinson, I. (Ian), Truong, T. (Therese), Tseng, C.-C. (Chiu-Chen), Untch, M. (Michael), Vachon, C. M. (Celine M.), van den Ouweland, A. M. (Ans M. W.), Wang, S. S. (Sophia S.), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Winham, S. J. (Stacey J.), Winqvist, R. (Robert), Wolk, A. (Alicja), Wu, A. H. (Anna H.), Yamaji, T. (Taiki), Zheng, W. (Wei), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Pettitt, S. J. (Stephen J.), Lord, C. J. (Christopher J.), Haider, S. (Syed), Orr, N. (Nick), Fletcher, O. (Olivia), Baxter, J. S. (Joseph S.), Johnson, N. (Nichola), Tomczyk, K. (Katarzyna), Gillespie, A. (Andrea), Maguire, S. (Sarah), Brough, R. (Rachel), Fachal, L. (Laura), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Cai, Q. (Qiuyin), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chan, T. L. (Tsun L.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Choi, J.-Y. (Ji-Yeob), Clarke, C. L. (Christine L.), Collaborators, N. (Nbcs), Colonna, S. (Sarah), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), Dossus, L. (Laure), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gao, C. (Chi), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Ghoussaini, M. (Maya), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Guendert, M. (Melanie), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hatse, S. (Sigrid), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hou, M.-F. (Ming-Feng), Ito, H. (Hidemi), Iwasaki, M. (Motoki), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Joseph, V. (Vijai), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kang, D. (Daehee), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kim, S.-W. (Sung-Won), Kosma, V.-M. (Veli-Matti), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kwong, A. (Ava), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Larson, N. L. (Nicole L.), Larsson, S. C. (Susanna C.), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Li, J. (Jingmei), Long, J. (Jirong), Lophatananon, A. (Artitaya), LubiNski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Matsuo, K. (Keitaro), Mavroudis, D. (Dimitrios), Mayes, R. (Rebecca), Menon, U. (Usha), Milne, R. L. (Roger L.), Taib, N. A. (Nur Aishah Mohd), Muir, K. (Kenneth), Muranen, T. A. (Taru A.), Murphy, R. A. (Rachel A.), Nevanlinna, H. (Heli), O'Brien, K. M. (Katie M.), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Park, S. K. (Sue K.), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Presneau, N. (Nadege), Pylkäs, K. (Katri), Rack, B. (Brigitte), Rennert, G. (Gad), Romero, A. (Atocha), Ruebner, M. (Matthias), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teo, S. H. (Soo Hwang), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Toland, A. E. (Amanda E.), Tomlinson, I. (Ian), Truong, T. (Therese), Tseng, C.-C. (Chiu-Chen), Untch, M. (Michael), Vachon, C. M. (Celine M.), van den Ouweland, A. M. (Ans M. W.), Wang, S. S. (Sophia S.), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Winham, S. J. (Stacey J.), Winqvist, R. (Robert), Wolk, A. (Alicja), Wu, A. H. (Anna H.), Yamaji, T. (Taiki), Zheng, W. (Wei), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Pettitt, S. J. (Stephen J.), Lord, C. J. (Christopher J.), Haider, S. (Syed), Orr, N. (Nick), and Fletcher, O. (Olivia)

Abstract

A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific transcription from the IGFBP5 promoter at both signals (30- to 40-fold increased expression by the putative regulatory element at signal 2, 2- to 3-fold by the putative regulatory element at signal 3). We further identified one of the five credible causal variants at signal 2, a 1.4 kb deletion (esv3594306), as the likely causal variant; the deletion allele of this variant was associated with an average additional increase in IGFBP5 expression of 1.3-fold (MCF-7) and 2.2-fold (T-47D). We propose a model in which the deletion allele of esv3594306 juxtaposes two transcription factor binding regions (annotated by estrogen receptor alpha ChIP-seq peaks) to generate a single extended regulatory element. This regulatory element increases cell-type-specific expression of the tumor suppressor gene IGFBP5 and, thereby, reduces risk of estrogen receptor-positive breast cancer (odds ratio = 0.77, 95% CI 0.74–0.81, p = 3.1 × 10−31).

Published
2021

146. Colorado geoid computation experiment: overview and summary

Author

Wang, Y.M., Sánchez, L., Ågren, J., Huang, J., Forsberg, R., Abd-Elmotaal, H.A., Ahlgren, K., Barzaghi, R., Bašić, T., Carrion, D., Claessens, Sten, Erol, B., Erol, S., Filmer, Mick, Grigoriadis, V.N., Isik, M.S., Jiang, T., Koç, Ö., Krcmaric, J., Li, X., Liu, Q., Matsuo, K., Natsiopoulos, D.A., Novák, P., Pail, R., Pitoňák, M., Schmidt, M., Varga, M., Vergos, G.S., Véronneau, M., Willberg, M., Zingerle, P., Wang, Y.M., Sánchez, L., Ågren, J., Huang, J., Forsberg, R., Abd-Elmotaal, H.A., Ahlgren, K., Barzaghi, R., Bašić, T., Carrion, D., Claessens, Sten, Erol, B., Erol, S., Filmer, Mick, Grigoriadis, V.N., Isik, M.S., Jiang, T., Koç, Ö., Krcmaric, J., Li, X., Liu, Q., Matsuo, K., Natsiopoulos, D.A., Novák, P., Pail, R., Pitoňák, M., Schmidt, M., Varga, M., Vergos, G.S., Véronneau, M., Willberg, M., and Zingerle, P.

Abstract

The primary objective of the 1-cm geoid experiment in Colorado (USA) is to compare the numerous geoid computation methods used by different groups around the world. This is intended to lay the foundations for tuning computation methods to achieve the sought after 1-cm accuracy, and also evaluate how this accuracy may be robustly assessed. In this experiment, (quasi)geoid models were computed using the same input data provided by the US National Geodetic Survey (NGS), but using different methodologies. The rugged mountainous study area (730 km × 560 km) in Colorado was chosen so as to accentuate any differences between the methodologies, and to take advantage of newly collected GPS/leveling data of the Geoid Slope Validation Survey 2017 (GSVS17) which are now available to be used as an accurate and independent test dataset. Fourteen groups from fourteen countries submitted a gravimetric geoid and a quasigeoid model in a 1′× 1′ grid for the study area, as well as geoid heights, height anomalies, and geopotential values at the 223 GSVS17 marks. This paper concentrates on the quasigeoid model comparison and evaluation, while the geopotential value investigations are presented as a separate paper (Sánchez et al. in J Geodesy 95(3):1. https://doi.org/10.1007/s00190-021-01481-0, 2021). Three comparisons are performed: the area comparison to show the model precision, the comparison with the GSVS17 data to estimate the relative accuracy of the models, and the differential quasigeoid (slope) comparison with GSVS17 to assess the relative accuracy of the height anomalies at different baseline lengths. The results show that the precision of the 1′ × 1′ models over the complete area is about 2 cm, while the accuracy estimates along the GSVS17 profile range from 1.2 cm to 3.4 cm. Considering that the GSVS17 does not pass the roughest terrain, we estimate that the quasigeoid can be computed with an accuracy of ~ 2 cm in Colorado. The slope comparisons show that RMS values of the di

Published
2021

147. Lessons learned from the INHANCE consortium: An overview of recent results on head and neck cancer

Author

Bravi, F., Lee, Y. -C. A., Hashibe, M., Boffetta, Paolo, Conway, D. I., Ferraroni, M., La Vecchia, C., Edefonti, V., Agudo, A., Ahrens, W., Benhamou, S., Boccia, Stefania, Brennan, P., Brenner, H., Cadoni, Gabriella, Canova, C., Chen, Chen, Chuang, S. -C., Curado, M. P., Dal Maso, L., Daudt, A. W., D'Souza, G., Fabianova, E., Fernandez, L., Franceschi, S., Garavello, W., Gillison, M., Gross, N. D., Hayes, R. B., Healy, C., Herrero, R., Holcatova, I., Kelsey, K., Kjaerheim, K., Koifman, R., Lagiou, Pagona, Lazarus, P., Levi, F., Li, G., Lissowska, J., Luce, D., Macfarlane, G. J., Mates, D., Matsuo, K., Mcclean, M., Menezes, A., Menvielle, G., Morgenstern, H., Moyses, R. A., Moysich, K., Muscat, J., Negri, Erica, Olshan, A. F., Pandics, T., Polesel, J., Purdue, M. P., Radoi, L., Ramroth, H., Richiardi, L., Schantz, S., Schwartz, S. M., Serraino, D., Shangina, O., Smith, E., Sturgis, E. M., Swiatkowska, B., Thomson, P., Toporcov, T. N., Vaughan, T. L., Vilensky, M., Winn, D. M., Wunsch-Filho, V., Yu, G. -P., Zevallos, J. P., Zhang, Z. -F., Zheng, T., Znaor, A., Boffetta P., Boccia S. (ORCID:0000-0002-1864-749X), Cadoni G. (ORCID:0000-0001-8244-784X), Chen C., Lagiou P., Negri E., Bravi, F., Lee, Y. -C. A., Hashibe, M., Boffetta, Paolo, Conway, D. I., Ferraroni, M., La Vecchia, C., Edefonti, V., Agudo, A., Ahrens, W., Benhamou, S., Boccia, Stefania, Brennan, P., Brenner, H., Cadoni, Gabriella, Canova, C., Chen, Chen, Chuang, S. -C., Curado, M. P., Dal Maso, L., Daudt, A. W., D'Souza, G., Fabianova, E., Fernandez, L., Franceschi, S., Garavello, W., Gillison, M., Gross, N. D., Hayes, R. B., Healy, C., Herrero, R., Holcatova, I., Kelsey, K., Kjaerheim, K., Koifman, R., Lagiou, Pagona, Lazarus, P., Levi, F., Li, G., Lissowska, J., Luce, D., Macfarlane, G. J., Mates, D., Matsuo, K., Mcclean, M., Menezes, A., Menvielle, G., Morgenstern, H., Moyses, R. A., Moysich, K., Muscat, J., Negri, Erica, Olshan, A. F., Pandics, T., Polesel, J., Purdue, M. P., Radoi, L., Ramroth, H., Richiardi, L., Schantz, S., Schwartz, S. M., Serraino, D., Shangina, O., Smith, E., Sturgis, E. M., Swiatkowska, B., Thomson, P., Toporcov, T. N., Vaughan, T. L., Vilensky, M., Winn, D. M., Wunsch-Filho, V., Yu, G. -P., Zevallos, J. P., Zhang, Z. -F., Zheng, T., Znaor, A., Boffetta P., Boccia S. (ORCID:0000-0002-1864-749X), Cadoni G. (ORCID:0000-0001-8244-784X), Chen C., Lagiou P., and Negri E.

Abstract

Objective: To summarize the latest evidence on head and neck cancer epidemiology from the International Head and Neck Cancer Epidemiology (INHANCE) consortium. Subjects and Methods: INHANCE was established in 2004 to elucidate the etiology of head and neck cancer through pooled analyses of individual-level data on a large scale. We summarize results from recent INHANCE-based publications updating our 2015 overview. Results: Seventeen papers were published between 2015 and May 2020. These studies further define the nature of risks associated with tobacco and alcohol, and occupational exposures on head and neck cancer. The beneficial effects on incidence of head and neck cancer were identified for good oral health, endogenous and exogenous hormonal factors, and selected aspects of diet related to fruit and vegetables. INHANCE has begun to develop risk prediction models and to pool follow-up data on their studies, finding that ~30% of cases had cancer recurrence and 9% second primary cancers, with overall- and disease-specific 5-year-survival of 51% and 57%, respectively. Conclusions: The number and importance of INHANCE scientific findings provides further evidence of the advantages of large-scale internationally collaborative projects and will support the development of prevention strategies.

Published
2021

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