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51. Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

Author

Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutiérrez-Enríquez, Alejandro Moles-Fernández, Orland Diez, Tu Nguyen-Dumont, Melissa C. Southey, John L. Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K. Schmidt, Muriel A. Adank, Irene L. Andrulis, Eric Hahnen, Christoph Engel, Fabienne Lesueur, Elodie Girard, Susan L. Neuhausen, Elad Ziv, Jamie Allen, Douglas F. Easton, Rodney J. Scott, Kylie L. Gorringe, Paul A. James, and Ian G. Campbell

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor syndrome that includes breast cancer, but the contribution of heterozygous variants to hereditary breast cancer is unknown. An analysis of 4985 women with breast cancer, enriched for familial features, and 4786 cancer-free women revealed significant enrichment for NTHL1 LoF variants. Immunohistochemistry confirmed reduced NTHL1 expression in tumors from heterozygous carriers but the NTHL1 bi-allelic loss characteristic mutational signature (SBS 30) was not present. The analysis was extended to 27,421 breast cancer cases and 19,759 controls from 10 international studies revealing 138 cases and 93 controls with a heterozygous LoF variant (OR 1.06, 95% CI: 0.82–1.39) and 316 cases and 179 controls with a missense variant (OR 1.31, 95% CI: 1.09–1.57). Missense variants selected for deleterious features by a number of in silico bioinformatic prediction tools or located within the endonuclease III functional domain showed a stronger association with breast cancer. Somatic sequencing of breast cancers from carriers indicated that the risk associated with NTHL1 appears to operate through haploinsufficiency, consistent with other described low-penetrance breast cancer genes. Data from this very large international multicenter study suggests that heterozygous pathogenic germline coding variants in NTHL1 may be associated with low- to moderate- increased risk of breast cancer.

Published
2021
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53. Sensorimotor Learning Modulates Automatic Imitation in Visual Speech

Author

Wu, Yuchunzi, Evans, Bronwen, and Adank, Patti

Abstract

People automatically imitate observed actions, including speech. Automatic Imitation (AI) is linked to observation-execution associations in the mirror neuron system (MNS). AI is measured using interference tasks, in which prompts (say”ba” or ”da”) are paired with congruent or incongruent distracters (video of someone saying ”ba” or ”da”). Faster responses forcongruent than for incongruent prompt-distracter pairings signal AI. Observation-execution associations for speech actions arethought to be inflexible, unlike associations for manual actions, which have been shown to be flexible. We trained participantsto reinforce or abolish their AI response by providing them with compatible (say ”ba” for a video of someone saying ”ba”) orincompatible training (say ”ba” for a video of ”da”). After training, the AI response was reduced for participants who receivedincompatible training, thus showing that the MNS for speech actions is also flexible and subject to experience, like the MNSfor manual actions.

Published
2017

56. Erratum to ‘The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families’ [The Breast 73 (2024) 103611]

Author

Schreurs, Maartje A.C., primary, Ramón y Cajal, Teresa, additional, Adank, Muriel A., additional, Collée, J. Margriet, additional, Hollestelle, Antoinette, additional, van Rooij, Jeroen, additional, Schmidt, Marjanka K., additional, and Hooning, Maartje J., additional

Published
2024
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57. Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

Author

Schmidt, Marjanka K, Hogervorst, Frans, van Hien, Richard, Cornelissen, Sten, Broeks, Annegien, Adank, Muriel A, Meijers, Hanne, Waisfisz, Quinten, Hollestelle, Antoinette, Schutte, Mieke, van den Ouweland, Ans, Hooning, Maartje, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Antoniou, Antonis C, Arndt, Volker, Bermisheva, Marina, Bogdanova, Natalia V, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Dunning, Alison M, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Galle, Eva, García-Closas, Montserrat, Giles, Graham G, Haeberle, Lothar, Hall, Per, Hillemanns, Peter, Hopper, John L, Jakubowska, Anna, John, Esther M, Jones, Michael, Khusnutdinova, Elza, Knight, Julia A, Kosma, Veli-Matti, Kristensen, Vessela, Lee, Andrew, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Margolin, Sara, Meindl, Alfons, Milne, Roger L, Muranen, Taru A, Newcomb, Polly A, Offit, Kenneth, Park-Simon, Tjoung-Won, Peto, Julian, Pharoah, Paul DP, Robson, Mark, Rudolph, Anja, Sawyer, Elinor J, Schmutzler, Rita K, Seynaeve, Caroline, Soens, Julie, Southey, Melissa C, Spurdle, Amanda B, Surowy, Harald, Swerdlow, Anthony, Tollenaar, Rob AEM, Tomlinson, Ian, Trentham-Dietz, Amy, Vachon, Celine, Wang, Qin, Whittemore, Alice S, Ziogas, Argyrios, van der Kolk, Lizet, Nevanlinna, Heli, Dörk, Thilo, Bojesen, Stig, and Easton, Douglas F

Subjects
Clinical Research, Genetics, Cancer, Breast Cancer, Aetiology, 2.1 Biological and endogenous factors, Adult, Age Factors, Aged, Aged, 80 and over, Breast Neoplasms, Case-Control Studies, Checkpoint Kinase 2, Female, Genetic Predisposition to Disease, Heterozygote, Homozygote, Humans, Middle Aged, Odds Ratio, Receptors, Estrogen, Receptors, Progesterone, Risk Assessment, Sequence Deletion, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposeCHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC.Patients and methodsCHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2*1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population- and hospital-based studies.ResultsProportions of heterozygous CHEK2*1100delC carriers in controls, in patients with breast cancer from population- and hospital-based studies, and in patients with breast cancer from familial- and clinical genetics center-based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 × 10(-20)). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10(-21)]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 10(-4)). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2*1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom.ConclusionThese CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up.

Published
2016

58. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Author

Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O’Mara, Joe Dennis, Jonathan P. Tyrer, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, Muriel A. Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Banu K. Arun, Annelie Augustinsson, Jacopo Azzollini, Daniel Barrowdale, Caroline Baynes, Heko Becher, Marina Bermisheva, Leslie Bernstein, Katarzyna Białkowska, Carl Blomqvist, Stig E. Bojesen, Bernardo Bonanni, Ake Borg, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Daniele Campa, Brian D. Carter, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Wendy K. Chung, Kathleen B. M. Claes, Christine L. Clarke, GEMO Study Collaborators, EMBRACE Collaborators, J. Margriet Collée, Don M. Conroy, Kamila Czene, Mary B. Daly, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Thilo Dörk, Isabel dos-Santos-Silva, Alison M. Dunning, Miriam Dwek, Diana M. Eccles, A. Heather Eliassen, Christoph Engel, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Henrik Flyger, Florentia Fostira, Eitan Friedman, Lin Fritschi, Debra Frost, Manuela Gago-Dominguez, Susan M. Gapstur, Judy Garber, Vanesa Garcia-Barberan, Montserrat García-Closas, José A. García-Sáenz, Mia M. Gaudet, Simon A. Gayther, Andrea Gehrig, Vassilios Georgoulias, Graham G. Giles, Andrew K. Godwin, Mark S. Goldberg, David E. Goldgar, Anna González-Neira, Mark H. Greene, Pascal Guénel, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Patricia A. Harrington, Steven N. Hart, Wei He, Frans B. L. Hogervorst, Antoinette Hollestelle, John L. Hopper, Darling J. Horcasitas, Peter J. Hulick, David J. Hunter, Evgeny N. Imyanitov, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Agnes Jager, Anna Jakubowska, Paul A. James, Uffe Birk Jensen, Esther M. John, Michael E. Jones, Rudolf Kaaks, Pooja Middha Kapoor, Beth Y. Karlan, Renske Keeman, Elza Khusnutdinova, Johanna I. Kiiski, Yon-Dschun Ko, Veli-Matti Kosma, Peter Kraft, Allison W. Kurian, Yael Laitman, Diether Lambrechts, Loic Le Marchand, Jenny Lester, Fabienne Lesueur, Tricia Lindstrom, Adria Lopez-Fernández, Jennifer T. Loud, Craig Luccarini, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, John W. M. Martens, Noura Mebirouk, Alfons Meindl, Austin Miller, Roger L. Milne, Marco Montagna, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Finn C. Nielsen, Katie M. O’Brien, Olufunmilayo I. Olopade, Janet E. Olson, Håkan Olsson, Ana Osorio, Laura Ottini, Tjoung-Won Park-Simon, Michael T. Parsons, Inge Sokilde Pedersen, Beth Peshkin, Paolo Peterlongo, Julian Peto, Paul D. P. Pharoah, Kelly-Anne Phillips, Eric C. Polley, Bruce Poppe, Nadege Presneau, Miquel Angel Pujana, Kevin Punie, Paolo Radice, Johanna Rantala, Muhammad U. Rashid, Gad Rennert, Hedy S. Rennert, Mark Robson, Atocha Romero, Maria Rossing, Emmanouil Saloustros, Dale P. Sandler, Regina Santella, Maren T. Scheuner, Marjanka K. Schmidt, Gunnar Schmidt, Christopher Scott, Priyanka Sharma, Penny Soucy, Melissa C. Southey, John J. Spinelli, Zoe Steinsnyder, Jennifer Stone, Dominique Stoppa-Lyonnet, Anthony Swerdlow, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Mary Beth Terry, Alex Teulé, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Diana Torres, Alison H. Trainer, Thérèse Truong, Nadine Tung, Celine M. Vachon, Ana Vega, Joseph Vijai, Qin Wang, Barbara Wappenschmidt, Clarice R. Weinberg, Jeffrey N. Weitzel, Camilla Wendt, Alicja Wolk, Siddhartha Yadav, Xiaohong R. Yang, Drakoulis Yannoukakos, Wei Zheng, Argyrios Ziogas, Kristin K. Zorn, Sue K. Park, Mads Thomassen, Kenneth Offit, Rita K. Schmutzler, Fergus J. Couch, Jacques Simard, Georgia Chenevix-Trench, Douglas F. Easton, Nadine Andrieu, and Antonis C. Antoniou

Subjects
Science
Abstract

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Published
2021
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59. Gestational lipid profile as an early marker of metabolic syndrome in later life: a population-based prospective cohort study

Author

Maria C. Adank, Laura Benschop, Sophia P. van Streun, Anna M. Smak Gregoor, Monique T. Mulder, Eric A. P. Steegers, Sarah Schalekamp-Timmermans, and Jeanine E. Roeters van Lennep

Subjects
Pregnancy, Metabolic syndrome, Lipoproteins, HDL, Triglycerides, Cholesterol, LDL, Placental syndrome, Medicine
Abstract

Abstract Background In pregnancy lipid levels increase with gestation resembling an atherogenic lipid profile. Currently it is unclear whether gestational lipid levels are associated with an adverse cardiovascular risk profile later in life. The aim of this study is to assess the association between gestational lipid levels and lipid levels and prevalence of the metabolic syndrome (MS) six years after pregnancy. Methods In plasma of 3510 women from the Generation R Study; a prospective population-based cohort, we measured lipid levels (total cholesterol, triglycerides and high-density lipoprotein cholesterol [HDL-c]), and low-density lipoprotein cholesterol (LDL-c), remnant cholesterol and non-HDL-c were calculated in early pregnancy (median 13.2 weeks, 90% range [10.5 to 17.1]) and six years after pregnancy (median 6.5 years, 90% range [6.2 to 7.8]). MS was assessed six years after pregnancy according to the NCEP/ATP3 criteria. We also examined the influence of pregnancy complications on these associations. Results Gestational lipid levels were positively associated with corresponding lipid levels six years after pregnancy, independent of pregnancy complications. Six years after pregnancy the prevalence of MS was 10.0%; the prevalence was higher for women with a previous placental syndrome (13.5%). Gestational triglycerides and remnant cholesterol in the highest quartile and HDL-c in the lowest quartile were associated with the highest risk for future MS, independent of smoking and body mass index. Conclusions Gestational lipid levels provide an insight in the future cardiovascular risk profile of women in later life. Monitoring and lifestyle intervention could be indicated in women with an unfavorable gestational lipid profile to optimize timely cardiovascular risk prevention.

Published
2020
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60. Maternal lipid profile in early pregnancy is associated with foetal growth and the risk of a child born large-for-gestational age: a population-based prospective cohort study

Author

Maria C. Adank, Laura Benschop, Alet W. Kors, Kelly R. Peterbroers, Anna M. Smak Gregoor, Monique T. Mulder, Sarah Schalekamp-Timmermans, Jeanine E. Roeters Van Lennep, and Eric A. P. Steegers

Subjects
Pregnancy, Lipoproteins, Foetal weight, Infant, Small-for-gestational age, Foetal programming, Medicine
Abstract

Abstract Background Lipids such as cholesterol and triglycerides play an important role in both maternal and foetal energy metabolism. Little is known about maternal lipid levels in pregnancy and their effect on foetal growth. The aim of this study was to assess maternal lipid levels, foetal growth and the risk of small-for-gestational age (SGA) and large-for-gestational age (LGA). Methods We included 5702 women from the Generation R Study, a prospective population-based cohort. Maternal lipid levels (total cholesterol, triglycerides and high-density lipoprotein cholesterol [HDL-c]) were measured in early pregnancy (median 13.4 weeks, 90% range [10.5 to 17.2]). Low-density lipoprotein cholesterol (LDL-c), remnant cholesterol and non-HDL-c were calculated. Foetal growth was measured repeatedly by ultrasound. Information on birth anthropometrics was retrieved from medical records. A birth weight below the 10th percentile was defined as SGA and above the 90th percentile as LGA. Results Maternal triglyceride and remnant cholesterol levels were associated with increased foetal head circumference and abdominal circumference growth rates. Triglycerides and remnant cholesterol were positively associated with the risk of LGA (odds ratio [OR] 1.11, 95% confidence interval [CI] [1.01 to 1.22] and OR 1.11, 95% CI [1.01 to 1.23], respectively). These associations were independent of maternal pre-pregnancy body mass index, but not maternal glucose levels. We observed no association between maternal lipids in early pregnancy and SGA. Conclusions Our study suggests a novel association of early pregnancy triglyceride and remnant cholesterol levels with foetal growth, patterns of foetal growth and the risk of LGA. Future studies are warranted to explore clinical implication possibilities.

Published
2020
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61. Fetal sex and maternal pregnancy outcomes: a systematic review and meta-analysis

Author

Zoe A. Broere-Brown, Maria C. Adank, Laura Benschop, Myrte Tielemans, Taulant Muka, Romy Gonçalves, Wichor M. Bramer, Josje D Schoufour, Trudy Voortman, Eric A. P. Steegers, Oscar H. Franco, and Sarah Schalekamp-Timmermans

Subjects
Fetal sex, Pregnancy complications, Medicine, Physiology, QP1-981
Abstract

Abstract Background Since the placenta also has a sex, fetal sex–specific differences in the occurrence of placenta-mediated complications could exist. Objective To determine the association of fetal sex with multiple maternal pregnancy complications. Search strategy Six electronic databases Ovid MEDLINE, EMBASE, Cochrane Central, Web-of-Science, PubMed, and Google Scholar were systematically searched to identify eligible studies. Reference lists of the included studies and contact with experts were also used for identification of studies. Selection criteria Observational studies that assessed fetal sex and the presence of maternal pregnancy complications within singleton pregnancies. Data collection and analyses Data were extracted by 2 independent reviewers using a predesigned data collection form. Main results From 6522 original references, 74 studies were selected, including over 12,5 million women. Male fetal sex was associated with term pre-eclampsia (pooled OR 1.07 [95%CI 1.06 to 1.09]) and gestational diabetes (pooled OR 1.04 [1.02 to 1.07]). All other pregnancy complications (i.e., gestational hypertension, total pre-eclampsia, eclampsia, placental abruption, and post-partum hemorrhage) tended to be associated with male fetal sex, except for preterm pre-eclampsia, which was more associated with female fetal sex. Overall quality of the included studies was good. Between-study heterogeneity was high due to differences in study population and outcome definition. Conclusion This meta-analysis suggests that the occurrence of pregnancy complications differ according to fetal sex with a higher cardiovascular and metabolic load for the mother in the presence of a male fetus. Funding None.

Published
2020
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62. Maternal cardiovascular adaptation to twin pregnancy: a population-based prospective cohort study

Author

Maria C. Adank, Zoe A. Broere-Brown, Romy Gonçalves, M. Kamran Ikram, Vincent W. V. Jaddoe, Eric A. P. Steegers, and Sarah Schalekamp-Timmermans

Subjects
Blood pressure, Cardiovascular diseases, Pre-eclampsia, Pregnancy, twin, Cardiovascular adaptation, Gynecology and obstetrics, RG1-991
Abstract

Abstract Background In women with singleton pregnancies, maternal adaptation is considered a stress test for later life cardiovascular disease. The aim of this study was to assess maternal adaptation in women with twin pregnancies compared to women carrying singletons during and after pregnancy. Methods This was a population based prospective cohort study of 91 women with twin pregnancies and 8107 women carrying singletons. The association of twin pregnancy and maternal adaptation was examined using regression analyses. In pregnancy, we measured soluble fms-like tyrosine kinase-1 (sFLT-1), placental growth (PGF) factor, systolic (SBP) and diastolic blood pressure (DBP), and the occurrence of pre-eclampsia (PE). After pregnancy, measurements were obtained on SBP and DBP, cardiac function, retinal calibres, intima media thickness and distensibility of the common carotid artery. Results sFLT-1 and PGF concentrations were higher in early (13.4 weeks) and mid-pregnancy (20.4 weeks) in women with twin pregnancies compared to women with singleton pregnancies. Women with twin pregnancies had a different DBP pattern in pregnancy. Women with twin pregnancies were more likely to have PE (odds ratio 3.63; 95% CI [1.76 to 7.48]). Six and ten years after pregnancy, no differences in maternal adaptation were observed. Conclusions Women with twin pregnancies show an altered adaptation during pregnancy compared to women with singleton pregnancies. This is associated with a substantially increased incidence of PE, but does not lead to persistent altered maternal adaptation years after pregnancy.

Published
2020
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63. Cohort profile:a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2

Author

Schreurs, Maartje A.C., Adank, Muriel A., Hollestelle, Antoinette, de Groot, Rosa, Stommel-Jenner, Denise J., Van Asperen, Christi J., Ausems, Margreet G.E.M., Berger, Lieke P.V., Blok, Marinus J., van Engelen, Klaartje, Hogervorst, Frans B.L., Geurts-Giele, Willemina, Gille, Johan J.P., Wevers, Marijke R., Schmidt, Marjanka K., Hooning, Maartje J., Schreurs, Maartje A.C., Adank, Muriel A., Hollestelle, Antoinette, de Groot, Rosa, Stommel-Jenner, Denise J., Van Asperen, Christi J., Ausems, Margreet G.E.M., Berger, Lieke P.V., Blok, Marinus J., van Engelen, Klaartje, Hogervorst, Frans B.L., Geurts-Giele, Willemina, Gille, Johan J.P., Wevers, Marijke R., Schmidt, Marjanka K., and Hooning, Maartje J.

Abstract

PURPOSE: CHEK2 c.1100delC is associated with an increased breast cancer risk in women. While this variant is prevalent in the Netherlands (1% in the general population), knowledge of aetiology and prognosis of breast cancer and other tumours in CHEK2 c.1100delC carriers is lacking. The nationwide HEreditary Breast and Ovarian cancer study the Netherlands (Hebon) cohort aims to answer study questions in families with an increased risk of breast cancer and ovarian cancer. While initially focusing on BRCA1/2-variant families, Hebon gradually expanded to include pathogenic variants in other genes associated with breast and/or ovarian cancer over time. This provides an excellent setting to establish a cohort to ultimately study the impact of CHEK2 c.1100delC on cancer risk prediction and surveillance, breast cancer treatment and prognosis. PARTICIPANTS: We invited all heterozygous and homozygous CHEK2 c.1100delC indexes and tested female relatives. 1802 women were included, of whom 1374 were heterozygotes and 938 were breast cancer cases. Pedigrees were collected from all clinical genetic departments. Furthermore, participants completed a detailed questionnaire on hormonal and lifestyle factors, family history, cancer diagnosis and treatment. FINDINGS TO DATE: Mean age at study inclusion was 53 years. Linkage with the Netherlands Cancer Registry showed a younger age at diagnosis in homozygotes (mean age 41.7 years) and heterozygotes (47.9 years) than non-carriers (51.2 years). Furthermore, carriers were more often diagnosed with grade 2, oestrogen receptor-positive breast cancer and more often developed contralateral breast cancer than non-carriers. Most women consumed alcohol regularly and about half never smoked. FUTURE PLANS: Further data linkages with the Netherlands Cancer Registry will allow prospective follow-up and breast cancer risk assessment in unaffected women at the time of genetic testing, risk of contralateral breast cancer and survival in patients with

Published
2024

64. The Transabdominal Lumbar Approach (TALA) for Robotic Renal Surgery-A Retrospective Single-Center Comparative Study and Step-by-Step Description of a Novel Approach

Author

Heining, Franziska Maria, Bieri, Uwe; https://orcid.org/0000-0002-7339-1458, Niemann, Tilo; https://orcid.org/0000-0002-5384-2522, Maletzki, Philipp, Tschung, Christopher, Adank, Jean-Pascal, Rössler, Fabian; https://orcid.org/0000-0002-2968-347X, Nocito, Antonio; https://orcid.org/0000-0002-6062-2077, Hefermehl, Lukas John; https://orcid.org/0000-0002-8467-5333, Heining, Franziska Maria, Bieri, Uwe; https://orcid.org/0000-0002-7339-1458, Niemann, Tilo; https://orcid.org/0000-0002-5384-2522, Maletzki, Philipp, Tschung, Christopher, Adank, Jean-Pascal, Rössler, Fabian; https://orcid.org/0000-0002-2968-347X, Nocito, Antonio; https://orcid.org/0000-0002-6062-2077, and Hefermehl, Lukas John; https://orcid.org/0000-0002-8467-5333

Abstract

The transperitoneal approach (TP) and the retroperitoneal approach (RP) are two common methods for performing nephrectomy or partial nephrectomy. However, both approaches face difficulties, such as trocar placement and limited working space (RP). TP is impaired in the case of dorsal tumors and dissection of the renal artery can be challenging due to the anatomic localization dorsally to the renal vein. A hybrid approach that combines both methods has been previously reported in a case series, but not evaluated systematically. This study proposes a modified hybrid approach, which we call the transabdominal lumbar approach (TALA), involving late robotic docking after elaborating the retroperitoneum using conventional laparoscopy. The study compares the last 20 consecutive patients who underwent RP and the last 20 patients who underwent TALA at our institution. The investigated variables include operative time and amount of blood loss, hospitalization duration, postoperative analgesia requirement, and postoperative complications. The study found no significant difference in operative time, blood loss, ischemia time, or hospital stay between the two groups. The TALA group had fewer complications regarding Clavien-Dindo category 3, but one complication of category 4. In Conclusion, TALA is a safe and promising approach that combines the advantages of RP and TP.

Published
2024

65. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Author

Genetica Klinische Genetica, Cancer, Afdeling Dietetiek, Hubrecht Institute with UMC, Genetica Sectie Genoomdiagnostiek, MS CGO, Epi Kanker Team A, Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, M. A., Hooning, M. J., The Hereditary Breast and Ovarian Cancer Research Group Netherlands, Genetica Klinische Genetica, Cancer, Afdeling Dietetiek, Hubrecht Institute with UMC, Genetica Sectie Genoomdiagnostiek, MS CGO, Epi Kanker Team A, Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, M. A., Hooning, M. J., and The Hereditary Breast and Ovarian Cancer Research Group Netherlands

Published
2024

66. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

Author

Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, Genetica Klinische Genetica, Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, EMBRACE Collaborators, Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, Genetica Klinische Genetica, Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, and EMBRACE Collaborators

Published
2024

67. Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Author

Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, M. G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, Muriel A., Hooning, Maartje J., Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, M. G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, A. R., Adank, Muriel A., and Hooning, Maartje J.

Abstract

Purpose: Female CHEK2 c.1100delC heterozygotes are eligible for additional breast surveillance because of an increased breast cancer risk. Increased risks for other cancers have been reported. We studied whether CHEK2 c.1100delC is associated with an increased risk for other cancers within these families. Methods:Including 10,780 individuals from 609 families, we calculated standardized incidence rates (SIRs) and absolute excess risk (AER, per 10,000 person-years) by comparing first-reported cancer derived from the pedigrees with general Dutch population rates from 1970 onward. Attained-age analyses were performed for sites in which significant increased risks were found. Considering the study design, we primarily focused on cancer risk in women. Results: We found significant increased risks of colorectal cancer (CRC; SIR = 1.43, 95% CI = 1.14-1.76; AER = 1.43) and hematological cancers (SIR = 1.32; 95% CI = 1.02-1.67; AER = 0.87). CRC was significantly more frequent from age 45 onward. Conclusion: A significantly increased risk of CRC, and hematological cancers in women was found, starting at a younger age than expected. Currently, colorectal surveillance starts at age 45 in high-risk individuals. Our results suggest that some CHEK2 c.1100delC families might benefit from this surveillance as well; however, further research is needed to determine who may profit from this additional colorectal surveillance.

Published
2024

68. A systematic review of acoustic change complex (ACC) measurements and applicability in children for the assessment of the neural capacity for sound and speech discrimination

Author

Meehan, Sarah, Adank, Marloes L., van der Schroeff, Marc P., Vroegop, Jantien L., Meehan, Sarah, Adank, Marloes L., van der Schroeff, Marc P., and Vroegop, Jantien L.

Abstract

Objective: The acoustic change complex (ACC) is a cortical auditory evoked potential (CAEP) and can be elicited by a change in an otherwise continuous sound. The ACC has been highlighted as a promising tool in the assessment of sound and speech discrimination capacity, and particularly for difficult-to-test populations such as infants with hearing loss, due to the objective nature of ACC measurements. Indeed, there is a pressing need to develop further means to accurately and thoroughly establish the hearing status of children with hearing loss, to help guide hearing interventions in a timely manner. Despite the potential of the ACC method, ACC measurements remain relatively rare in a standard clinical settings. The objective of this study was to perform an up-to-date systematic review on ACC measurements in children, to provide greater clarity and consensus on the possible methodologies, applications, and performance of this technique, and to facilitate its uptake in relevant clinical settings. Design: Original peer-reviewed articles conducting ACC measurements in children (< 18 years). Data were extracted and summarised for: (1) participant characteristics; (2) ACC methods and auditory stimuli; (3) information related to the performance of the ACC technique; (4) ACC measurement outcomes, advantages, and challenges. The systematic review was conducted using PRISMA guidelines for reporting and the methodological quality of included articles was assessed. Results: A total of 28 studies were identified (9 infant studies). Review results show that ACC responses can be measured in infants (from < 3 months), and there is evidence of age-dependency, including increased robustness of the ACC response with increasing childhood age. Clinical applications include the measurement of the neural capacity for speech and non-speech sound discrimination in children with hearing loss, auditory neuropathy spectrum disor

Published
2024

69. That's what I like! Fostering enjoyment in primary physical education

Author

Adank, Anoek M., Van Kann, Dave H.H., Borghouts, Lars B., Kremers, Stef P.J., Vos, Steven B., Adank, Anoek M., Van Kann, Dave H.H., Borghouts, Lars B., Kremers, Stef P.J., and Vos, Steven B.

Abstract

Enjoyment in primary physical education (PE) is a key factor in increasing children's physical activity engagement in PE and leisure time. While existing PE research has largely focused on a motivational PE climate and meaningful experiences in PE, research on children's perceptions of enjoyable teaching practices (TPs) in PE is limited. Therefore, this study aimed to explore primary school children's perspectives on TPs that foster PE enjoyment. In addition, we observed to what extent these TPs were applied in daily PE practice. Four focus groups with 10- to 12-year-old children (12 boys, 12 girls) from four primary schools were formed and inductive analysis resulted in 32 child-identified TPs categorized into 10 dimensions. Thirty-one PE lessons taught by 19 different PE teachers (11 generalists, 8 PE specialists) were recorded and coded using the child-identified TPs. Teachers regularly performed a substantial number of these TPs during their PE lessons. However, TPs such as the use of cooperative learning, instructional methods to promote children's (social) learning process, an emphasis on children's individual improvements, and consciously grouping were rarely observed. Moreover, PE specialists showed TPs supporting exploratory learning and children's individual learning processes more frequently than generalists. In addition, PE specialists provided challenging, differentiated tasks with a creative use of equipment more often than generalists. Including children's perspectives contributes to a comprehensive understanding of PE enjoyment and TPs that can promote enjoyable PE experiences. Children's voices need to be heard continuously by PE teachers to ensure enjoyable PE experiences for all children.

Published
2024

70. Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts

Author

Giardiello, Daniele, Hauptmann, Michael, Steyerberg, Ewout W., Adank, Muriel A., Akdeniz, Delal, Blom, Jannet C., Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Brinkhuis, Mariël, Chang-Claude, Jenny, Czene, Kamila, Devilee, Peter, Dunning, Alison M., Easton, Douglas F., Eccles, Diana M., Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Haeberle, Lothar, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hopper, John L., Jager, Agnes, Jakubowska, Anna, Jung, Audrey, Keeman, Renske, Koppert, Linetta B., Kramer, Iris, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Lubiński, Jan, Manoochehri, Mehdi, Mariani, Luigi, Nevanlinna, Heli, Oldenburg, Hester S. A., Pelders, Saskia, Pharoah, Paul D. P., Shah, Mitul, Siesling, Sabine, Smit, Vincent T. H. B. M., Southey, Melissa C., Tapper, William J., Tollenaar, Rob A. E. M., van den Broek, Alexandra J., van Deurzen, Carolien H. M., van Leeuwen, Flora E., van Ongeval, Chantal, Van’t Veer, Laura J., Wang, Qin, Wendt, Camilla, Westenend, Pieter J., Hooning, Maartje J., and Schmidt, Marjanka K.

Published
2020
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72. Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Author

Page, Elizabeth C., Bancroft, Elizabeth K., Brook, Mark N., Assel, Melissa, Hassan Al Battat, Mona, Thomas, Sarah, Taylor, Natalie, Chamberlain, Anthony, Pope, Jennifer, Raghallaigh, Holly Ni, Evans, D. Gareth, Rothwell, Jeanette, Maehle, Lovise, Grindedal, Eli Marie, James, Paul, Mascarenhas, Lyon, McKinley, Joanne, Side, Lucy, Thomas, Tessy, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Jensen, Thomas Dyrsø, Osther, Palle J.S., Helfand, Brian T., Genova, Elena, Oldenburg, Rogier A., Cybulski, Cezary, Wokolorczyk, Dominika, Ong, Kai-Ren, Huber, Camilla, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadaló, Lidia, Oosterwijk, Jan C., van Zelst-Stams, Wendy, Cook, Jackie, Rosario, Derek J., Domchek, Susan, Powers, Jacquelyn, Buys, Saundra, O'Toole, Karen, Ausems, Margreet G.E.M., Schmutzler, Rita K., Rhiem, Kerstin, Izatt, Louise, Tripathi, Vishakha, Teixeira, Manuel R., Cardoso, Marta, Foulkes, William D., Aprikian, Armen, van Randeraad, Heleen, Davidson, Rosemarie, Longmuir, Mark, Ruijs, Mariëlle W.G., Helderman van den Enden, Apollonia T.J.M., Adank, Muriel, Williams, Rachel, Andrews, Lesley, Murphy, Declan G., Halliday, Dorothy, Walker, Lisa, Liljegren, Annelie, Carlsson, Stefan, Azzabi, Ashraf, Jobson, Irene, Morton, Catherine, Shackleton, Kylie, Snape, Katie, Hanson, Helen, Harris, Marion, Tischkowitz, Marc, Taylor, Amy, Kirk, Judy, Susman, Rachel, Chen-Shtoyerman, Rakefet, Spigelman, Allan, Pachter, Nicholas, Ahmed, Munaza, Ramon y Cajal, Teresa, Zgajnar, Janez, Brewer, Carole, Gadea, Neus, Brady, Angela F., van Os, Theo, Gallagher, David, Johannsson, Oskar, Donaldson, Alan, Barwell, Julian, Nicolai, Nicola, Friedman, Eitan, Obeid, Elias, Greenhalgh, Lynn, Murthy, Vedang, Copakova, Lucia, Saya, Sibel, McGrath, John, Cooke, Peter, Rønlund, Karina, Richardson, Kate, Henderson, Alex, Teo, Soo H., Arun, Banu, Kast, Karin, Dias, Alexander, Aaronson, Neil K., Ardern-Jones, Audrey, Bangma, Chris H., Castro, Elena, Dearnaley, David, Eccles, Diana M., Tricker, Karen, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C., Stefansdottir, Vigdis, Khoo, Vincent, Lindeman, Geoffrey J., Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita, Moynihan, Clare, Rennert, Gadi, Suri, Mohnish, Wilson, Penny, Dudderidge, Tim, Offman, Judith, Kote-Jarai, Zsofia, Vickers, Andrew, Lilja, Hans, and Eeles, Rosalind A.

Published
2019
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74. The Transabdominal Lumbar Approach (TALA) for Robotic Renal Surgery—A Retrospective Single-Center Comparative Study and Step-by-Step Description of a Novel Approach

Author

Heining, Franziska Maria, primary, Bieri, Uwe, additional, Niemann, Tilo, additional, Maletzki, Philipp, additional, Tschung, Christopher, additional, Adank, Jean-Pascal, additional, Rössler, Fabian, additional, Nocito, Antonio, additional, and Hefermehl, Lukas John, additional

Published
2024
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75. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

Author

Xin Yang, Mooij, Thea M., Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F., Jakubowska, Anna, van Gils, Carla H., Yen Y. Tan, Engel, Christoph, Adank, Muriel A., van Asperen, Christi J., Ausems, Margreet G. E. M., Berthet, Pascaline, Collee, Margriet J., Cook, Jackie A., Eason, Jacqueline, van Spaendonck-Zwarts, Karin Y., and Evans, D. Gareth

Abstract

Background No validation has been conducted for the BOADICEA multifactorial breast cancer risk prediction model specifically in BRCA1/2 pathogenic variant (PV) carriers to date. Here, we evaluated the performance of BOADICEA in predicting 5-year breast cancer risks in a prospective cohort of BRCA1/2 PV carriers ascertained through clinical genetic centres. Methods We evaluated the model calibration and discriminatory ability in the prospective TRANsIBCCS cohort study comprising 1614 BRCA1 and 1365 BRCA2 PV carriers (209 incident cases). Study participants had lifestyle, reproductive, hormonal, anthropometric risk factor information, a polygenic risk score based on 313 SNPs and family history information. Results The full multifactorial model considering family history together with all other risk factors was well calibrated overall (E/O=1.07, 95% CI: 0.92 to 1.24) and in quintiles of predicted risk. Discrimination was maximised when all risk factors were considered (Harrell's C-index=0.70, 95% CI: 0.67 to 0.74; area under the curve=0.79, 95% CI: 0.76 to 0.82). The model performance was similar when evaluated separately in BRCA1 or BRCA2 PV carriers. The full model identified 5.8%, 12.9% and 24.0% of BRCA1/2 PV carriers with 5-year breast cancer risks of <1.65%, <3% and <5%, respectively, risk thresholds commonly used for different management and risk-reduction options. Conclusion BOADICEA may be used to aid personalised cancer risk management and decision-making for BRCA1 and BRCA2 PV carriers. It is implemented in the free-access CanRisk tool (https:// www.canrisk.org/). [ABSTRACT FROM AUTHOR]

Published
2024
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76. Prediction and clinical utility of a contralateral breast cancer risk model

Author

Daniele Giardiello, Ewout W. Steyerberg, Michael Hauptmann, Muriel A. Adank, Delal Akdeniz, Carl Blomqvist, Stig E. Bojesen, Manjeet K. Bolla, Mariël Brinkhuis, Jenny Chang-Claude, Kamila Czene, Peter Devilee, Alison M. Dunning, Douglas F. Easton, Diana M. Eccles, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Montserrat García-Closas, Lothar Haeberle, Christopher A. Haiman, Per Hall, Ute Hamann, John L. Hopper, Agnes Jager, Anna Jakubowska, Audrey Jung, Renske Keeman, Iris Kramer, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Jan Lubiński, Mehdi Manoochehri, Luigi Mariani, Heli Nevanlinna, Hester S. A. Oldenburg, Saskia Pelders, Paul D. P. Pharoah, Mitul Shah, Sabine Siesling, Vincent T. H. B. M. Smit, Melissa C. Southey, William J. Tapper, Rob A. E. M. Tollenaar, Alexandra J. van den Broek, Carolien H. M. van Deurzen, Flora E. van Leeuwen, Chantal van Ongeval, Laura J. Van’t Veer, Qin Wang, Camilla Wendt, Pieter J. Westenend, Maartje J. Hooning, and Marjanka K. Schmidt

Subjects
Contralateral breast cancer, Risk prediction model, Clinical decision-making, BRCA mutation carriers, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Breast cancer survivors are at risk for contralateral breast cancer (CBC), with the consequent burden of further treatment and potentially less favorable prognosis. We aimed to develop and validate a CBC risk prediction model and evaluate its applicability for clinical decision-making. Methods We included data of 132,756 invasive non-metastatic breast cancer patients from 20 studies with 4682 CBC events and a median follow-up of 8.8 years. We developed a multivariable Fine and Gray prediction model (PredictCBC-1A) including patient, primary tumor, and treatment characteristics and BRCA1/2 germline mutation status, accounting for the competing risks of death and distant metastasis. We also developed a model without BRCA1/2 mutation status (PredictCBC-1B) since this information was available for only 6% of patients and is routinely unavailable in the general breast cancer population. Prediction performance was evaluated using calibration and discrimination, calculated by a time-dependent area under the curve (AUC) at 5 and 10 years after diagnosis of primary breast cancer, and an internal-external cross-validation procedure. Decision curve analysis was performed to evaluate the net benefit of the model to quantify clinical utility. Results In the multivariable model, BRCA1/2 germline mutation status, family history, and systemic adjuvant treatment showed the strongest associations with CBC risk. The AUC of PredictCBC-1A was 0.63 (95% prediction interval (PI) at 5 years, 0.52–0.74; at 10 years, 0.53–0.72). Calibration-in-the-large was -0.13 (95% PI: -1.62–1.37), and the calibration slope was 0.90 (95% PI: 0.73–1.08). The AUC of Predict-1B at 10 years was 0.59 (95% PI: 0.52–0.66); calibration was slightly lower. Decision curve analysis for preventive contralateral mastectomy showed potential clinical utility of PredictCBC-1A between thresholds of 4–10% 10-year CBC risk for BRCA1/2 mutation carriers and non-carriers. Conclusions We developed a reasonably calibrated model to predict the risk of CBC in women of European-descent; however, prediction accuracy was moderate. Our model shows potential for improved risk counseling, but decision-making regarding contralateral preventive mastectomy, especially in the general breast cancer population where limited information of the mutation status in BRCA1/2 is available, remains challenging.

Published
2019
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79. Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Author

Michailidou, Kyriaki, Hall, Per, Gonzalez-Neira, Anna, Ghoussaini, Maya, Dennis, Joe, Milne, Roger L, Schmidt, Marjanka K, Chang-Claude, Jenny, Bojesen, Stig E, Bolla, Manjeet K, Wang, Qin, Dicks, Ed, Lee, Andrew, Turnbull, Clare, Rahman, Nazneen, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Meindl, Alfons, Schmutzler, Rita K, Müller-Myhsok, Bertram, Lichtner, Peter, Hopper, John L, Southey, Melissa C, Makalic, Enes, Schmidt, Daniel F, Uitterlinden, Andre G, Hofman, Albert, Hunter, David J, Chanock, Stephen J, Vincent, Daniel, Bacot, François, Tessier, Daniel C, Canisius, Sander, Wessels, Lodewyk FA, Haiman, Christopher A, Shah, Mitul, Luben, Robert, Brown, Judith, Luccarini, Craig, Schoof, Nils, Humphreys, Keith, Li, Jingmei, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Couch, Fergus J, Wang, Xianshu, Vachon, Celine, Stevens, Kristen N, Lambrechts, Diether, Moisse, Matthieu, Paridaens, Robert, Christiaens, Marie-Rose, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Johnson, Nichola, Aitken, Zoe, Aaltonen, Kirsimari, Heikkinen, Tuomas, Broeks, Annegien, Veer, Laura J Van't, van der Schoot, C Ellen, Guénel, Pascal, Truong, Thérèse, Laurent-Puig, Pierre, Menegaux, Florence, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Zamora, M Pilar, Perez, Jose Ignacio Arias, Pita, Guillermo, Alonso, M Rosario, Cox, Angela, Brock, Ian W, Cross, Simon S, Reed, Malcolm WR, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, and Henderson, Brian E

Subjects
Biological Sciences, Genetics, Human Genome, Prevention, Breast Cancer, Cancer, Breast Neoplasms, Case-Control Studies, Cooperative Behavior, Female, Gene-Environment Interaction, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Risk Factors, Breast and Ovarian Cancer Susceptibility Collaboration, Hereditary Breast and Ovarian Cancer Research Group Netherlands, kConFab Investigators, Australian Ovarian Cancer Study Group, GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

Published
2013

82. Strategies for mainstreaming nature-based solutions in urban governance capacities in ten European cities

Author

Hölscher, Katharina, primary, Frantzeskaki, Niki, additional, Collier, Marcus John, additional, Connop, Stuart, additional, Kooijman, Esmee D., additional, Lodder, Marleen, additional, McQuaid, Siobhan, additional, Vandergert, Paula, additional, Xidous, Dimitra, additional, Bešlagić, Lejla, additional, Dick, Gillian, additional, Dumitru, Adina, additional, Dziubała, Agnieszka, additional, Fletcher, Isobel, additional, Adank, Cristian Garcia-Espina, additional, Vázquez, María González, additional, Madajczyk, Natalia, additional, Malekkidou, Eleni, additional, Mavroudi, Maria, additional, Loizou, Eleftherios, additional, Osipiuk, Agnieszka, additional, Pasic, Belma, additional, González, Antonio Prieto, additional, Quartier, Mien, additional, Schepers, Selina, additional, Suljević, Nermina, additional, Trendafilov, Ivaylo, additional, Van De Sijpe, Katrien, additional, Velikova, Velichka, additional, and Vos, Peter, additional

Published
2023
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83. The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families

Author

Schreurs, Maartje A.C., primary, Ramon y Cajal, Teresa, additional, Adank, Muriel A., additional, Collée, J. Margriet, additional, Hollestelle, Antoinette, additional, van Rooij, Jeroen, additional, Schmidt, Marjanka K., additional, and Hooning, Maartje J., additional

Published
2023
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87. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Author

Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O’Mara, Joe Dennis, Jonathan P. Tyrer, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, Muriel A. Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Banu K. Arun, Annelie Augustinsson, Jacopo Azzollini, Daniel Barrowdale, Caroline Baynes, Heko Becher, Marina Bermisheva, Leslie Bernstein, Katarzyna Białkowska, Carl Blomqvist, Stig E. Bojesen, Bernardo Bonanni, Ake Borg, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Daniele Campa, Brian D. Carter, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Wendy K. Chung, Kathleen B. M. Claes, Christine L. Clarke, GEMO Study Collaborators, EMBRACE Collaborators, J. Margriet Collée, Don M. Conroy, Kamila Czene, Mary B. Daly, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Thilo Dörk, Isabel dos-Santos-Silva, Alison M. Dunning, Miriam Dwek, Diana M. Eccles, A. Heather Eliassen, Christoph Engel, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Henrik Flyger, Florentia Fostira, Eitan Friedman, Lin Fritschi, Debra Frost, Manuela Gago-Dominguez, Susan M. Gapstur, Judy Garber, Vanesa Garcia-Barberan, Montserrat García-Closas, José A. García-Sáenz, Mia M. Gaudet, Simon A. Gayther, Andrea Gehrig, Vassilios Georgoulias, Graham G. Giles, Andrew K. Godwin, Mark S. Goldberg, David E. Goldgar, Anna González-Neira, Mark H. Greene, Pascal Guénel, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Patricia A. Harrington, Steven N. Hart, Wei He, Frans B. L. Hogervorst, Antoinette Hollestelle, John L. Hopper, Darling J. Horcasitas, Peter J. Hulick, David J. Hunter, Evgeny N. Imyanitov, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Agnes Jager, Anna Jakubowska, Paul A. James, Uffe Birk Jensen, Esther M. John, Michael E. Jones, Rudolf Kaaks, Pooja Middha Kapoor, Beth Y. Karlan, Renske Keeman, Elza Khusnutdinova, Johanna I. Kiiski, Yon-Dschun Ko, Veli-Matti Kosma, Peter Kraft, Allison W. Kurian, Yael Laitman, Diether Lambrechts, Loic Le Marchand, Jenny Lester, Fabienne Lesueur, Tricia Lindstrom, Adria Lopez-Fernández, Jennifer T. Loud, Craig Luccarini, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, John W. M. Martens, Noura Mebirouk, Alfons Meindl, Austin Miller, Roger L. Milne, Marco Montagna, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Finn C. Nielsen, Katie M. O’Brien, Olufunmilayo I. Olopade, Janet E. Olson, Håkan Olsson, Ana Osorio, Laura Ottini, Tjoung-Won Park-Simon, Michael T. Parsons, Inge Sokilde Pedersen, Beth Peshkin, Paolo Peterlongo, Julian Peto, Paul D. P. Pharoah, Kelly-Anne Phillips, Eric C. Polley, Bruce Poppe, Nadege Presneau, Miquel Angel Pujana, Kevin Punie, Paolo Radice, Johanna Rantala, Muhammad U. Rashid, Gad Rennert, Hedy S. Rennert, Mark Robson, Atocha Romero, Maria Rossing, Emmanouil Saloustros, Dale P. Sandler, Regina Santella, Maren T. Scheuner, Marjanka K. Schmidt, Gunnar Schmidt, Christopher Scott, Priyanka Sharma, Penny Soucy, Melissa C. Southey, John J. Spinelli, Zoe Steinsnyder, Jennifer Stone, Dominique Stoppa-Lyonnet, Anthony Swerdlow, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Mary Beth Terry, Alex Teulé, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Diana Torres, Alison H. Trainer, Thérèse Truong, Nadine Tung, Celine M. Vachon, Ana Vega, Joseph Vijai, Qin Wang, Barbara Wappenschmidt, Clarice R. Weinberg, Jeffrey N. Weitzel, Camilla Wendt, Alicja Wolk, Siddhartha Yadav, Xiaohong R. Yang, Drakoulis Yannoukakos, Wei Zheng, Argyrios Ziogas, Kristin K. Zorn, Sue K. Park, Mads Thomassen, Kenneth Offit, Rita K. Schmutzler, Fergus J. Couch, Jacques Simard, Georgia Chenevix-Trench, Douglas F. Easton, Nadine Andrieu, and Antonis C. Antoniou

Subjects
Science
Abstract

A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4

Published
2021
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89. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

Author

Noguès, Catherine, Laborde, Lilian, Pontois, Pauline, Breysse, Emanuelle, Berline, Margot, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Buecher, Bruno, Colas, Chrystelle, Caron, Olivier, Mouret-Fourme, Emmanuelle, Saule, Claire, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valérie, Dussard, Sophie, Berthet, Pascaline, Faivre, Laurence, Luporsi, Elisabeth, Mari, Véronique, Gladieff, Laurence, Gesta, Paul, Chieze-Valéro, Stéphanie, Moretta, Jessica, Sobol, Hagay, Eisinger, François, Popovici, Cornel, Longy, Michel, Grivelli, Louise, Soubrier, Florent, Benusiglio, Patrick, Coupier, Isabelle, Pujol, Pascal, Corsini, Carole, Morin-Meschin, Marie-Emmanuelle, Lortholary, Alain, Adenis, Claude, Maillez, Audrey, Nguyen, Tan Dat, Delnatte, Capucine, Abadie, Caroline, Tinat, Julie, Tennevet, Isabelle, Maugard, Christine, Bignon, Yves-Jean, Gay Bellile, Mathilde, Penet, Clotilde, Dreyfus, Hélène, Cohen-Haguenauer, Odile, Gilbert, Brigitte, Venat-Bouvet, Laurence, Leroux, Dominique, Legrand, Clémentine, Zattara-Cannoni, Hélène, Layet, Valérie, Lacaze, Elodie, Fert-Ferrer, Sandra, Bera, Odile, Gilbert-Dussardier, Brigitte, Tougeron, David, Lallaoui, Hakima, Rookus, M.A., Hogervorst, F.B.L., van Leeuwen, F.E., Adank, M.A., Schmidt, M.K., Jenner, D.J., Collée, J.M., van den Ouweland, A.M.W., Hooning, M.J., Boere, I.A., van Asperen, C.J., Devilee, P., van der Luijt, R.B., van Cronenburg, T.C.T.E.F., Wevers, M.R., Mensenkamp, A.R., Ausems, M.G.E.M., Koudijs, M.J., van de Beek, I., van Engelen, K., Gille, J.J.P., Gómez García, E.B., Blok, M.J., de Boer, M., Berger, L.P.V., van der Hout, A.H., Mourits, M.J.E., de Bock, G.H., Siesling, S., Verloop, J., van den Broek, E.C., Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Håkan, Mooij, Thea M., Roos-Blom, Marie-José, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Henderson, Alex, Izatt, Louise, Ong, Kai-Ren, van Engelen, Klaartje, Jager, Agnes, Menko, Fred H., Mourits, Marian J.E., Singer, Christian F., Tan, Yen Y., Foretova, Lenka, Navratilova, Marie, Schmutzler, Rita K., Ellberg, Carolina, Gerdes, Anne-Marie, Caldes, Trinidad, Simard, Jacques, Olah, Edith, Jakubowska, Anna, Rantala, Johanna, Osorio, Ana, Hopper, John L., Phillips, Kelly-Anne, Milne, Roger L., Beth Terry, Mary, Engel, Christoph, Kast, Karin, Goldgar, David E., van Leeuwen, Flora E., Easton, Douglas F., Andrieu, Nadine, and Rookus, Matti A.

Published
2021
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91. Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part three

Author

Erato Atsali, Dimitra Kassara, Pelagia Katsimbri, Sorina Boiu, Dimitrios T. Boumpas, Vana Papaevangelou, Olena A. Oshlyanska, Ludmila I. Omelchenko, Tatiana A. Ljudvik, Katerina Bouchalova, Marcel Schüller, Jana Franova, Jarmila Skotakova, Marie Macku, Antoni Fellas, Fiona Hawke, Derek Santos, Andrea Coda, Anthi Kelempisioti, Paula Keskitalo, Virpi Glumoff, Petri Kulmala, Paula Vahasalo, Mohammed A. Mozaffar, Asraa K. Turkistani, Samaa O. Sangoof, Vladislav Sevostyanov, Elena Zholobova, Evangelia Bountouvi, konstantinos Theodoropoulos, Renata Moutsiou, Christina Tsalapaki, Talia Diaz, Sofia Osorio, Maria Teresa Braña, Yuridiana Ramirez, Luis Aparicio, Andres Rodriguez, Enrique Faugier, Rocio Maldonado, Maria Francesca Gicchino, Carmela Granato, Giulia Macchini, Daniela Capalbo, Alma Nunzia Olivieri, Nathan Hasson, Achille Marino, Sona Narula, Melissa Lerman, Maria Amelia Muñoz Calonge, Sara Maria Murias Loza, Rosa Maria Alcobendas, Agustin Remesal, Esmeralda Núñez-Cuadros, Rocio Galindo Zavala, Gisela Díaz-Cordovés Rego, Cristina Antúnez Fernández, Yaiza García Molina, Antonio L. Urda Cardona, Nihal Sahin, Habibe S. Durmus, Ayse S. Pinarbasi, Zubeyde Gunduz, Muammer H. Poyrazoglu, Zehra F. Karaman, Turhan Oktem, Mithat Oner, Ruhan Dusunsel, Gordana Susic, Tamara Krstajic, Dragana Vujovic, Nedeljko Radlovic, Zoran Lekovic, Dusica Novakovic, Gordana Milosevski Lomic, Karina Mördrup, Gunilla Hesselstrand, Iva Sorić, Lovro Lamot, Mandica Vidovic, Mirta Lamot, Miroslav Harjacek, Eva Adank, Elvira Cannizzaro Schneider, Eiman Abdalla, Irfan Ullah, L. Jeyaseelan, Reem Abdwani, Laila A. L. Shaqsi, Ibrahim A. l. Zakwani, Antonis Fanouriakis, Mahesh Janarthanan, Dhanarathnamoorthy Vetrichelvan, P. Ramachandran, Sangeetha Geminiganesan, Dinesh Kumar, Subba Rao, Eleni-Maria Papatesta, Despoina Maritsi, Irini Eleftheriou, Maria Tsolia, Olga Vougiouka, Mustafa Çakan, Nuray Aktay Ayaz, Şerife Gül Karadağ, Gonca Keskindemirci, Vladimir Keltsev, Lyudmila Grebenkina, Kwang Nam Kim, Jong Gyun Ahn, Young Dae Kim, Maria Cristina Maggio, Rolando Cimaz, Maria Concetta Failla, Piera Dones, Mirella Collura, Giovanni Corsello, Jung-Woo Rhim, Ki-Hwan Kim, Soo-Young Lee, Seung-Beom Han, Jin-Han Kang, Jae-Hee Chung, Soo-Jung Lee, Dae-Chul Jeong, Andrei Santimov, Regina Rupp, Igor Alekseev, Natalya Plutova, Ekaterina Moskvina, Marina Kruchina, Aleksandra Tarasenko, Natalya Sokolova, Ekaterina Saveleva, Ilia Bogdanov, Dmitrii Ivanov, Tatiana Kandrina, Olga Kopanevich, Anastasiia Grafskaia, Natalia Ignateva, Daria Pulukchu, Natalia Pavlova, Olga Kalashnikova, Tatiana Kornishina, Margarita Dubko, Vyacheslav Chasnyk, Mikhail Kostik, Shama Sowdagar, Janani Sankar, Venkateswari Ramesh, Iulia E. Szabo, Claudia Sirbe, Cristina Pamfil, Laura Damian, Simona Rednic, Maria Deac, Mihaela Sparchez, Ileana Filipescu, Mirela Parvu, Dumitrita Balint, and Ancuta Nicoara

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2017
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92. Health systems and genuine engagement: experiences and outcomes of a New Zealand Community Health Council

Author

Sarah Derrett, Charlotte Adank, Martin Burke, Ilka Fedor, Lesley Gray, Bronnie Grant, Hana Halalele, Kelly Takurua, and Paula Waby

Subjects
community participation, patient engagement framework, Medicine (General), R5-920
Abstract

Introduction: New Zealand’s health system is largely government-funded (80%) and low cost (9%GDP). The population (4.7 million) has services planned, purchased and provided via 20 District Health Boards (DHBs). Hospital services are usually accessed via general practitioner practices. Organisationally, general practices are supported by 33 not-for-profit Primary Health Organisations (PHOs). In 2016 the Southern DHB (covering 320,000 people) and WellSouth PHO began establishing a health council to provide ‘lay’ advice, guidance, and support to improve the Southern health system. In February 2017 the Community Health Council (CHC) held its first monthly meeting with an appointed chair (SD), a Southern DHB facilitator (CA), and community members representing a range of geographical areas and health interests (e.g. Māori health, disability, women and children’s health and rural communities). Aims of the new Community Health Council: The CHC aims to: - enhance community, whānau (Māori word for family), and patient experiences - improve service integration - promote equity & - ensure services are organized, and provided, to better address people’s needs. A key project undertaken in the CHC’s first 18 months was the implementation of a ‘Community, Whānau, and Patient Engagement Framework’ throughout our Southern health system. Developing the Community, Whānau and Patient Engagement Framework Calls increased for the (now) 11 CHC members to sit on staff appointment panels, working groups, and larger system co-design projects. Given the demand to have patients involved in a range of projects, the CHC developed a strategy to better engage the wider community of people. The CHC held workshops to plan an engagement framework. We took the draft to our communities for feedback, made changes, and took the final framework out again before making it public. The principles of our Engagement Framework are founded on three key principles (partnership, participation and protection) from the Treaty of Waitangi (New Zealand’s founding document signed by Māori Chiefs and the British Crown in 1840). To implement the Framework the CHC established a register to record advisors. Interested community members complete a form identifying their health interests. The CHC emphasises that all people are ‘experts’ in the knowledge and experiences they bring to the engagement table. When Southern health system staff identify a need for an advisor they approach the CHC who then brokers connections between advisors and staff; the CHC then supports advisors and project team through the process of engagement. What we have achieved: The CHC register now has 42 public advisors; advisors are currently involved in over 26 different engagement projects. The Southern DHB has actively supported engagement by providing support for transportation, catering, and payment for peoples’ time working on engagement activities. Conclusions: With commitment from our CHC, communities, and the Southern DHB and WellSouth PHO leaders we have seen the establishment of a dynamic programme of engagement – and an expectation that community, whānau and patient engagement becomes ‘normal’ practice. Our next steps are to hold a Southern health system Engagement Symposium in 2019 bringing together the advisors, and the project teams, to share experiences and learning.

Published
2019
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93. Motor Imagery of Speech: The Involvement of Primary Motor Cortex in Manual and Articulatory Motor Imagery

Author

Gwijde Maegherman, Helen E. Nuttall, Joseph T. Devlin, and Patti Adank

Subjects
TMS - motor-evoked potentials, motor imagery (MI), motor execution (ME), time course, primary motor cortex (M1), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Motor imagery refers to the phenomenon of imagining performing an action without action execution. Motor imagery and motor execution are assumed to share a similar underlying neural system that involves primary motor cortex (M1). Previous studies have focused on motor imagery of manual actions, but articulatory motor imagery has not been investigated. In this study, transcranial magnetic stimulation (TMS) was used to elicit motor-evoked potentials (MEPs) from the articulatory muscles [orbicularis oris (OO)] as well as from hand muscles [first dorsal interosseous (FDI)]. Twenty participants were asked to execute or imagine performing a simple squeezing task involving a pair of tweezers, which was comparable across both effectors. MEPs were elicited at six time points (50, 150, 250, 350, 450, 550 ms post-stimulus) to track the time course of M1 involvement in both lip and hand tasks. The results showed increased MEP amplitudes for action execution compared to rest for both effectors at time points 350, 450 and 550 ms, but we found no evidence of increased cortical activation for motor imagery. The results indicate that motor imagery does not involve M1 for simple tasks for manual or articulatory muscles. The results have implications for models of mental imagery of simple articulatory gestures, in that no evidence is found for somatotopic activation of lip muscles in sub-phonemic contexts during motor imagery of such tasks, suggesting that motor simulation of relatively simple actions does not involve M1.

Published
2019
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94. External validation of prognostic models to predict stillbirth using International Prediction of Pregnancy Complications (IPPIC) Network database: individual participant data meta-analysis

Author

Allotey, J, Whittle, R, Snell, K, Smuk, M, Townsend, R, von Dadelszen, P, Heazell, A, Magee, L, Smith, G, Sandall, J, Thilaganathan, B, Zamora, J, Riley, R, Khalil, A, Thangaratinam, S, Coomarasamy, A, Kwong, A, Savitri, A, Salvesen, K, Bhattacharya, S, Uiterwaal, C, Staff, A, Andersen, L, Olive, E, Redman, C, Sletner, L, Daskalakis, G, Macleod, M, Abdollahain, M, Ramirez, J, Masse, J, Audibert, F, Magnus, P, Jenum, A, Baschat, A, Ohkuchi, A, Mcauliffe, F, West, J, Askie, L, Mone, F, Farrar, D, Zimmerman, P, Smits, L, Riddell, C, Kingdom, J, van de Post, J, Illanes, S, Holzman, C, van Kuijk, S, Carbillon, L, Villa, P, Eskild, A, Chappell, L, Prefumo, F, Velauthar, L, Seed, P, van Oostwaard, M, Verlohren, S, Poston, L, Ferrazzi, E, Vinter, C, Nagata, C, Brown, M, Vollebregt, K, Takeda, S, Langenveld, J, Widmer, M, Saito, S, Haavaldsen, C, Carroli, G, Olsen, J, Wolf, H, Zavaleta, N, Eisensee, I, Vergani, P, Lumbiganon, P, Makrides, M, Facchinetti, F, Sequeira, E, Gibson, R, Ferrazzani, S, Frusca, T, Norman, J, Figueiro, E, Lapaire, O, Laivuori, H, Lykke, J, Conde-Agudelo, A, Galindo, A, Mbah, A, Betran, A, Herraiz, I, Trogstad, L, Steegers, E, Salim, R, Huang, T, Adank, A, Zhang, J, Meschino, W, Browne, J, Allen, R, Costa, F, Klipstein-Grobusch Browne, K, Crowther, C, Jorgensen, J, Forest, J, Rumbold, A, Mol, B, Giguere, Y, Kenny, L, Ganzevoort, W, Odibo, A, Myers, J, Yeo, S, Goffinet, F, Mccowan, L, Pajkrt, E, Teede, H, Haddad, B, Dekker, G, Kleinrouweler, E, Lecarpentier, E, Roberts, C, Groen, H, Skrastad, R, Heinonen, S, Eero, K, Anggraini, D, Souka, A, Cecatti, J, Monterio, I, Pillalis, A, Souza, R, Hawkins, L, Gabbay-Benziv, R, Crovetto, F, Figuera, F, Jorgensen, L, Dodds, J, Patel, M, Aviram, A, Papageorghiou, A, Khan, K, Allotey J., Whittle R., Snell K. I. E., Smuk M., Townsend R., von Dadelszen P., Heazell A. E. P., Magee L., Smith G. C. S., Sandall J., Thilaganathan B., Zamora J., Riley R. D., Khalil A., Thangaratinam S., Coomarasamy A., Kwong A., Savitri A. I., Salvesen K. A., Bhattacharya S., Uiterwaal C. S. P. M., Staff A. C., Andersen L. B., Olive E. L., Redman C., Sletner L., Daskalakis G., Macleod M., Abdollahain M., Ramirez J. A., Masse J., Audibert F., Magnus P. M., Jenum A. K., Baschat A., Ohkuchi A., McAuliffe F. M., West J., Askie L. M., Mone F., Farrar D., Zimmerman P. A., Smits L. J. M., Riddell C., Kingdom J. C., van de Post J., Illanes S. E., Holzman C., van Kuijk S. M. J., Carbillon L., Villa P. M., Eskild A., Chappell L., Prefumo F., Velauthar L., Seed P., van Oostwaard M., Verlohren S., Poston L., Ferrazzi E., Vinter C. A., Nagata C., Brown M., Vollebregt K. C., Takeda S., Langenveld J., Widmer M., Saito S., Haavaldsen C., Carroli G., Olsen J., Wolf H., Zavaleta N., Eisensee I., Vergani P., Lumbiganon P., Makrides M., Facchinetti F., Sequeira E., Gibson R., Ferrazzani S., Frusca T., Norman J. E., Figueiro E. A., Lapaire O., Laivuori H., Lykke J. A., Conde-Agudelo A., Galindo A., Mbah A., Betran A. P., Herraiz I., Trogstad L., Smith G. G. S., Steegers E. A. P., Salim R., Huang T., Adank A., Zhang J., Meschino W. S., Browne J. L., Allen R. E., Costa F. D. S., Klipstein-Grobusch Browne K., Crowther C. A., Jorgensen J. S., Forest J. -C., Rumbold A. R., Mol B. W., Giguere Y., Kenny L. C., Ganzevoort W., Odibo A. O., Myers J., Yeo S. A., Goffinet F., McCowan L., Pajkrt E., Teede H. J., Haddad B. G., Dekker G., Kleinrouweler E. C., LeCarpentier E., Roberts C. T., Groen H., Skrastad R. B., Heinonen S., Eero K., Anggraini D., Souka A., Cecatti J. G., Monterio I., Pillalis A., Souza R., Hawkins L. A., Gabbay-Benziv R., Crovetto F., Figuera F., Jorgensen L., Dodds J., Patel M., Aviram A., Papageorghiou A., Khan K., Allotey, J, Whittle, R, Snell, K, Smuk, M, Townsend, R, von Dadelszen, P, Heazell, A, Magee, L, Smith, G, Sandall, J, Thilaganathan, B, Zamora, J, Riley, R, Khalil, A, Thangaratinam, S, Coomarasamy, A, Kwong, A, Savitri, A, Salvesen, K, Bhattacharya, S, Uiterwaal, C, Staff, A, Andersen, L, Olive, E, Redman, C, Sletner, L, Daskalakis, G, Macleod, M, Abdollahain, M, Ramirez, J, Masse, J, Audibert, F, Magnus, P, Jenum, A, Baschat, A, Ohkuchi, A, Mcauliffe, F, West, J, Askie, L, Mone, F, Farrar, D, Zimmerman, P, Smits, L, Riddell, C, Kingdom, J, van de Post, J, Illanes, S, Holzman, C, van Kuijk, S, Carbillon, L, Villa, P, Eskild, A, Chappell, L, Prefumo, F, Velauthar, L, Seed, P, van Oostwaard, M, Verlohren, S, Poston, L, Ferrazzi, E, Vinter, C, Nagata, C, Brown, M, Vollebregt, K, Takeda, S, Langenveld, J, Widmer, M, Saito, S, Haavaldsen, C, Carroli, G, Olsen, J, Wolf, H, Zavaleta, N, Eisensee, I, Vergani, P, Lumbiganon, P, Makrides, M, Facchinetti, F, Sequeira, E, Gibson, R, Ferrazzani, S, Frusca, T, Norman, J, Figueiro, E, Lapaire, O, Laivuori, H, Lykke, J, Conde-Agudelo, A, Galindo, A, Mbah, A, Betran, A, Herraiz, I, Trogstad, L, Steegers, E, Salim, R, Huang, T, Adank, A, Zhang, J, Meschino, W, Browne, J, Allen, R, Costa, F, Klipstein-Grobusch Browne, K, Crowther, C, Jorgensen, J, Forest, J, Rumbold, A, Mol, B, Giguere, Y, Kenny, L, Ganzevoort, W, Odibo, A, Myers, J, Yeo, S, Goffinet, F, Mccowan, L, Pajkrt, E, Teede, H, Haddad, B, Dekker, G, Kleinrouweler, E, Lecarpentier, E, Roberts, C, Groen, H, Skrastad, R, Heinonen, S, Eero, K, Anggraini, D, Souka, A, Cecatti, J, Monterio, I, Pillalis, A, Souza, R, Hawkins, L, Gabbay-Benziv, R, Crovetto, F, Figuera, F, Jorgensen, L, Dodds, J, Patel, M, Aviram, A, Papageorghiou, A, Khan, K, Allotey J., Whittle R., Snell K. I. E., Smuk M., Townsend R., von Dadelszen P., Heazell A. E. P., Magee L., Smith G. C. S., Sandall J., Thilaganathan B., Zamora J., Riley R. D., Khalil A., Thangaratinam S., Coomarasamy A., Kwong A., Savitri A. I., Salvesen K. A., Bhattacharya S., Uiterwaal C. S. P. M., Staff A. C., Andersen L. B., Olive E. L., Redman C., Sletner L., Daskalakis G., Macleod M., Abdollahain M., Ramirez J. A., Masse J., Audibert F., Magnus P. M., Jenum A. K., Baschat A., Ohkuchi A., McAuliffe F. M., West J., Askie L. M., Mone F., Farrar D., Zimmerman P. A., Smits L. J. M., Riddell C., Kingdom J. C., van de Post J., Illanes S. E., Holzman C., van Kuijk S. M. J., Carbillon L., Villa P. M., Eskild A., Chappell L., Prefumo F., Velauthar L., Seed P., van Oostwaard M., Verlohren S., Poston L., Ferrazzi E., Vinter C. A., Nagata C., Brown M., Vollebregt K. C., Takeda S., Langenveld J., Widmer M., Saito S., Haavaldsen C., Carroli G., Olsen J., Wolf H., Zavaleta N., Eisensee I., Vergani P., Lumbiganon P., Makrides M., Facchinetti F., Sequeira E., Gibson R., Ferrazzani S., Frusca T., Norman J. E., Figueiro E. A., Lapaire O., Laivuori H., Lykke J. A., Conde-Agudelo A., Galindo A., Mbah A., Betran A. P., Herraiz I., Trogstad L., Smith G. G. S., Steegers E. A. P., Salim R., Huang T., Adank A., Zhang J., Meschino W. S., Browne J. L., Allen R. E., Costa F. D. S., Klipstein-Grobusch Browne K., Crowther C. A., Jorgensen J. S., Forest J. -C., Rumbold A. R., Mol B. W., Giguere Y., Kenny L. C., Ganzevoort W., Odibo A. O., Myers J., Yeo S. A., Goffinet F., McCowan L., Pajkrt E., Teede H. J., Haddad B. G., Dekker G., Kleinrouweler E. C., LeCarpentier E., Roberts C. T., Groen H., Skrastad R. B., Heinonen S., Eero K., Anggraini D., Souka A., Cecatti J. G., Monterio I., Pillalis A., Souza R., Hawkins L. A., Gabbay-Benziv R., Crovetto F., Figuera F., Jorgensen L., Dodds J., Patel M., Aviram A., Papageorghiou A., and Khan K.

Abstract

Objective: Stillbirth is a potentially preventable complication of pregnancy. Identifying women at high risk of stillbirth can guide decisions on the need for closer surveillance and timing of delivery in order to prevent fetal death. Prognostic models have been developed to predict the risk of stillbirth, but none has yet been validated externally. In this study, we externally validated published prediction models for stillbirth using individual participant data (IPD) meta-analysis to assess their predictive performance. Methods: MEDLINE, EMBASE, DH-DATA and AMED databases were searched from inception to December 2020 to identify studies reporting stillbirth prediction models. Studies that developed or updated prediction models for stillbirth for use at any time during pregnancy were included. IPD from cohorts within the International Prediction of Pregnancy Complications (IPPIC) Network were used to validate externally the identified prediction models whose individual variables were available in the IPD. The risk of bias of the models and cohorts was assessed using the Prediction study Risk Of Bias ASsessment Tool (PROBAST). The discriminative performance of the models was evaluated using the C-statistic, and calibration was assessed using calibration plots, calibration slope and calibration-in-the-large. Performance measures were estimated separately in each cohort, as well as summarized across cohorts using random-effects meta-analysis. Clinical utility was assessed using net benefit. Results: Seventeen studies reporting the development of 40 prognostic models for stillbirth were identified. None of the models had been previously validated externally, and the full model equation was reported for only one-fifth (20%, 8/40) of the models. External validation was possible for three of these models, using IPD from 19 cohorts (491 201 pregnant women) within the IPPIC Network database. Based on evaluation of the model development studies, all three models had an overa

Published
2022

96. Longitudinal Perspectives on Children's Physical Activity Patterns: "Do Physical Education–Related Factors Matter?".

Author

Adank, Anoek M., Van Kann, Dave H.H., Remmers, Teun, Kremers, Stef P.J., and Vos, Steven B.

Subjects
PHYSICAL activity, PHYSICAL education for children, MOTOR ability in children, SEDENTARY behavior in children, RELATEDNESS (Psychology), CHILDREN'S health
Abstract

Background: This study examined longitudinal associations of motor competence (MC) and physical activity (PA) enjoyment with moderate to vigorous PA and sedentary behavior among boys and girls aged 10–12 years old. In addition, this study explored the predictive strength of satisfaction of basic psychological needs in physical education (PE) and PA enjoyment. Methods: At 3 time points (baseline, +1 y, and +2 y), PA levels, MC, PA enjoyment, satisfaction of basic psychological needs in PE and height and weight of 371 children were measured. Data were analyzed using repeated-measures linear mixed model analyses stratified for gender and adjusted for relevant covariates. Results: Sedentary behavior decreased over time and was significantly predicted by PA enjoyment in boys and by PA enjoyment and MC in girls. Boys' moderate to vigorous PA decreased over time and was predicted by MC, whereas girls' moderate to vigorous PA remained low, yet stable over time and was predicted by PA enjoyment and MC. Furthermore, children's need for competence and teacher relatedness (girls only) during PE significantly predicted PA enjoyment. Conclusions: Children need sufficient and well-designed opportunities to improve their MC and PA enjoyment. PE may be pivotal in advancing PA enjoyment, indicating that PE could have more beneficial effects on PA levels in children, especially in girls. [ABSTRACT FROM AUTHOR]

Published
2021
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97. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

Author

Morra, Anna, Schreurs, Maartje A. C., Andrulis, Irene L., Anton-Culver, Hoda, Augustinsson, Annelie, Beckmann, Matthias W., Behrens, Sabine, Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Broeks, Annegien, Buys, Saundra S., Camp, Nicola J., Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chung, Wendy K., Colonna, Sarah V., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Dennis, Joe, Devilee, Peter, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Easton, Douglas F., Eccles, Diana M., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fehm, Tanja N., Figueroa, Jonine D., Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., Genkinger, Jeanine, Grassmann, Felix, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A., Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Jakubowska, Anna, Janni, Wolfgang, Jernström, Helena, John, Esther M., Johnson, Nichola, Jones, Michael E., Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Lubiński, Jan, Lux, Michael P., Mannermaa, Arto, Mavroudis, Dimitrios, Mulligan, Anna Marie, Muranen, Taru A., Nevanlinna, Heli, Nevelsteen, Ines, Neven, Patrick, Newman, William G., Obi, Nadia, Offit, Kenneth, Olshan, Andrew F., Park-Simon, Tjoung-Won, Patel, Alpa V., Peterlongo, Paolo, Phillips, Kelly-Anne, Plaseska-Karanfilska, Dijana, Polley, Eric C., Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Robson, Mark, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schuetze, Sabine, Scott, Christopher, Shah, Mitul, Smichkoska, Snezhana, Southey, Melissa C., Tapper, William J., Teras, Lauren R., Tollenaar, Rob A. E. M., Tomczyk, Katarzyna, Tomlinson, Ian, Troester, Melissa A., Vachon, Celine M., van Veen, Elke M., Wang, Qin, Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Ziogas, Argyrios, Hall, Per, Pharoah, Paul D. P., Adank, Muriel A., Hollestelle, Antoinette, Schmidt, Marjanka K., Hooning, Maartje J., Morra, Anna, Schreurs, Maartje A. C., Andrulis, Irene L., Anton-Culver, Hoda, Augustinsson, Annelie, Beckmann, Matthias W., Behrens, Sabine, Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Broeks, Annegien, Buys, Saundra S., Camp, Nicola J., Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chung, Wendy K., Colonna, Sarah V., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Dennis, Joe, Devilee, Peter, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Easton, Douglas F., Eccles, Diana M., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fehm, Tanja N., Figueroa, Jonine D., Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., Genkinger, Jeanine, Grassmann, Felix, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A., Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Jakubowska, Anna, Janni, Wolfgang, Jernström, Helena, John, Esther M., Johnson, Nichola, Jones, Michael E., Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Lubiński, Jan, Lux, Michael P., Mannermaa, Arto, Mavroudis, Dimitrios, Mulligan, Anna Marie, Muranen, Taru A., Nevanlinna, Heli, Nevelsteen, Ines, Neven, Patrick, Newman, William G., Obi, Nadia, Offit, Kenneth, Olshan, Andrew F., Park-Simon, Tjoung-Won, Patel, Alpa V., Peterlongo, Paolo, Phillips, Kelly-Anne, Plaseska-Karanfilska, Dijana, Polley, Eric C., Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Robson, Mark, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schuetze, Sabine, Scott, Christopher, Shah, Mitul, Smichkoska, Snezhana, Southey, Melissa C., Tapper, William J., Teras, Lauren R., Tollenaar, Rob A. E. M., Tomczyk, Katarzyna, Tomlinson, Ian, Troester, Melissa A., Vachon, Celine M., van Veen, Elke M., Wang, Qin, Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Ziogas, Argyrios, Hall, Per, Pharoah, Paul D. P., Adank, Muriel A., Hollestelle, Antoinette, Schmidt, Marjanka K., and Hooning, Maartje J.

Abstract

Background: Breast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers. Aim: To assessed the associations of CHEK2 c.1100delC, radiotherapy, and systemic treatment with CBC risk and BCSS. Methods: Analyses were based on 82,701 women diagnosed with a first primary invasive BC including 963 CHEK2 c.1100delC carriers; median follow-up was 9.1 years. Differential associations with treatment by CHEK2 c.1100delC status were tested by including interaction terms in a multivariable Cox regression model. A multi-state model was used for further insight into the relation between CHEK2 c.1100delC status, treatment, CBC risk and death. Results: There was no evidence for differential associations of therapy with CBC risk by CHEK2 c.1100delC status. The strongest association with reduced CBC risk was observed for the combination of chemotherapy and endocrine therapy [HR (95% CI): 0.66 (0.55–0.78)]. No association was observed with radiotherapy. Results from the multi-state model showed shorter BCSS for CHEK2 c.1100delC carriers versus non-carriers also after accounting for CBC occurrence [HR (95% CI): 1.30 (1.09–1.56)]. Conclusion: Systemic therapy was associated with reduced CBC risk irrespective of CHEK2 c.1100delC status. Moreover, CHEK2 c.1100delC carriers had shorter BCSS, which appears not to be fully explained by their CBC risk.

Published
2023

98. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.

Author

Morra, A, Schreurs, MAC, Andrulis, IL, Anton-Culver, H, Augustinsson, A, Beckmann, MW, Behrens, S, Bojesen, SE, Bolla, MK, Brauch, H, Broeks, A, Patel, AV, Peterlongo, P, Phillips, K-A, Plaseska-Karanfilska, D, Polley, EC, Presneau, N, Pylkäs, K, Rack, B, Radice, P, Rashid, MU, Southey, MC, Rhenius, V, Robson, M, Romero, A, Saloustros, E, Sawyer, EJ, Schmutzler, RK, Schuetze, S, Scott, C, Shah, M, Smichkoska, S, Tapper, WJ, Teras, LR, Tollenaar, RAEM, Tomczyk, K, Tomlinson, I, Troester, MA, Vachon, CM, van Veen, EM, Wang, Q, Buys, SS, Wendt, C, Wildiers, H, Winqvist, R, Ziogas, A, Hall, P, Pharoah, PDP, Adank, MA, Hollestelle, A, Schmidt, MK, Hooning, MJ, Camp, NJ, Castelao, JE, Cessna, MH, Chang-Claude, J, Chung, WK, NBCS Collaborators, Colonna, SV, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Dennis, J, Devilee, P, Dörk, T, Dunning, AM, Dwek, M, Easton, DF, Eccles, DM, Eriksson, M, Evans, DG, Fasching, PA, Fehm, TN, Figueroa, JD, Flyger, H, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, García-Sáenz, JA, Genkinger, J, Grassmann, F, Gündert, M, Hahnen, E, Haiman, CA, Hamann, U, Harrington, PA, Hartikainen, JM, Hoppe, R, Hopper, JL, Houlston, RS, Howell, A, ABCTB Investigators, kConFab Investigators, Jakubowska, A, Janni, W, Jernström, H, John, EM, Johnson, N, Jones, ME, Kristensen, VN, Kurian, AW, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubiński, J, Lux, MP, Mannermaa, A, Mavroudis, D, Mulligan, AM, Muranen, TA, Nevanlinna, H, Nevelsteen, I, Neven, P, Newman, WG, Obi, N, Offit, K, Olshan, AF, Park-Simon, T-W, Morra, A, Schreurs, MAC, Andrulis, IL, Anton-Culver, H, Augustinsson, A, Beckmann, MW, Behrens, S, Bojesen, SE, Bolla, MK, Brauch, H, Broeks, A, Patel, AV, Peterlongo, P, Phillips, K-A, Plaseska-Karanfilska, D, Polley, EC, Presneau, N, Pylkäs, K, Rack, B, Radice, P, Rashid, MU, Southey, MC, Rhenius, V, Robson, M, Romero, A, Saloustros, E, Sawyer, EJ, Schmutzler, RK, Schuetze, S, Scott, C, Shah, M, Smichkoska, S, Tapper, WJ, Teras, LR, Tollenaar, RAEM, Tomczyk, K, Tomlinson, I, Troester, MA, Vachon, CM, van Veen, EM, Wang, Q, Buys, SS, Wendt, C, Wildiers, H, Winqvist, R, Ziogas, A, Hall, P, Pharoah, PDP, Adank, MA, Hollestelle, A, Schmidt, MK, Hooning, MJ, Camp, NJ, Castelao, JE, Cessna, MH, Chang-Claude, J, Chung, WK, NBCS Collaborators, Colonna, SV, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Dennis, J, Devilee, P, Dörk, T, Dunning, AM, Dwek, M, Easton, DF, Eccles, DM, Eriksson, M, Evans, DG, Fasching, PA, Fehm, TN, Figueroa, JD, Flyger, H, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, García-Sáenz, JA, Genkinger, J, Grassmann, F, Gündert, M, Hahnen, E, Haiman, CA, Hamann, U, Harrington, PA, Hartikainen, JM, Hoppe, R, Hopper, JL, Houlston, RS, Howell, A, ABCTB Investigators, kConFab Investigators, Jakubowska, A, Janni, W, Jernström, H, John, EM, Johnson, N, Jones, ME, Kristensen, VN, Kurian, AW, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubiński, J, Lux, MP, Mannermaa, A, Mavroudis, D, Mulligan, AM, Muranen, TA, Nevanlinna, H, Nevelsteen, I, Neven, P, Newman, WG, Obi, N, Offit, K, Olshan, AF, and Park-Simon, T-W

Abstract

BACKGROUND: Breast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers. AIM: To assessed the associations of CHEK2 c.1100delC, radiotherapy, and systemic treatment with CBC risk and BCSS. METHODS: Analyses were based on 82,701 women diagnosed with a first primary invasive BC including 963 CHEK2 c.1100delC carriers; median follow-up was 9.1 years. Differential associations with treatment by CHEK2 c.1100delC status were tested by including interaction terms in a multivariable Cox regression model. A multi-state model was used for further insight into the relation between CHEK2 c.1100delC status, treatment, CBC risk and death. RESULTS: There was no evidence for differential associations of therapy with CBC risk by CHEK2 c.1100delC status. The strongest association with reduced CBC risk was observed for the combination of chemotherapy and endocrine therapy [HR (95% CI): 0.66 (0.55-0.78)]. No association was observed with radiotherapy. Results from the multi-state model showed shorter BCSS for CHEK2 c.1100delC carriers versus non-carriers also after accounting for CBC occurrence [HR (95% CI): 1.30 (1.09-1.56)]. CONCLUSION: Systemic therapy was associated with reduced CBC risk irrespective of CHEK2 c.1100delC status. Moreover, CHEK2 c.1100delC carriers had shorter BCSS, which appears not to be fully explained by their CBC risk.

Published
2023

99. Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

Author

Figlioli, G, Billaud, A, Wang, Q, Bolla, MK, Dennis, J, Lush, M, Kvist, A, Adank, MA, Ahearn, TU, Antonenkova, NN, Auvinen, P, Behrens, S, Bermisheva, M, Bogdanova, N, Bojesen, SE, Bonanni, B, Bruening, T, Camp, NJ, Campbell, A, Castelao, JE, Cessna, MH, Czene, K, Devilee, P, Doerk, T, Eriksson, M, Fasching, PA, Flyger, H, Gabrielson, M, Gago-Dominguez, M, Garcia-Closas, M, Glendon, G, Garcia, EG, Gonzalez-Neira, A, Grassmann, F, Guenel, P, Hahnen, E, Hamann, U, Hillemanns, P, Hooning, MJ, Hoppe, R, Howell, A, Humphreys, K, Jakubowska, A, Khusnutdinova, EK, Kristensen, VN, Lindblom, A, Loizidou, MA, Lubinski, J, Mannermaa, A, Maurer, T, Mavroudis, D, Newman, WG, Obi, N, Panayiotidis, M, Radice, P, Rashid, MU, Rhenius, V, Ruebner, M, Saloustros, E, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Shah, MT, Southey, MC, Tomlinson, I, Truong, T, van Veen, EM, Wendt, C, Yang, XR, Michailidou, K, Dunning, AM, Pharoah, PDP, Easton, DF, Andrulis, IL, Evans, DG, Hollestelle, A, Chang-Claude, J, Milne, RL, Peterlongo, P, Figlioli, G, Billaud, A, Wang, Q, Bolla, MK, Dennis, J, Lush, M, Kvist, A, Adank, MA, Ahearn, TU, Antonenkova, NN, Auvinen, P, Behrens, S, Bermisheva, M, Bogdanova, N, Bojesen, SE, Bonanni, B, Bruening, T, Camp, NJ, Campbell, A, Castelao, JE, Cessna, MH, Czene, K, Devilee, P, Doerk, T, Eriksson, M, Fasching, PA, Flyger, H, Gabrielson, M, Gago-Dominguez, M, Garcia-Closas, M, Glendon, G, Garcia, EG, Gonzalez-Neira, A, Grassmann, F, Guenel, P, Hahnen, E, Hamann, U, Hillemanns, P, Hooning, MJ, Hoppe, R, Howell, A, Humphreys, K, Jakubowska, A, Khusnutdinova, EK, Kristensen, VN, Lindblom, A, Loizidou, MA, Lubinski, J, Mannermaa, A, Maurer, T, Mavroudis, D, Newman, WG, Obi, N, Panayiotidis, M, Radice, P, Rashid, MU, Rhenius, V, Ruebner, M, Saloustros, E, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Shah, MT, Southey, MC, Tomlinson, I, Truong, T, van Veen, EM, Wendt, C, Yang, XR, Michailidou, K, Dunning, AM, Pharoah, PDP, Easton, DF, Andrulis, IL, Evans, DG, Hollestelle, A, Chang-Claude, J, Milne, RL, and Peterlongo, P

Abstract

FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum and frequency of four common and 62 rare FANCM PTVs found in 274 carriers detected among 44,803 breast cancer cases. We confirmed that p.Gln1701* was the most common PTV in Northern Europe with lower frequencies in Southern Europe. In contrast, p.Gly1906Alafs*12 was the most common PTV in Southern Europe with decreasing frequencies in Central and Northern Europe. We verified that p.Arg658* was prevalent in Central Europe and had highest frequencies in Eastern Europe. We also confirmed that the fourth most common PTV, p.Gln498Thrfs*7, might be a founder variant from Lithuania. Based on the frequency distribution of the carriers of rare PTVs, we showed that the FANCM PTVs spectra in Southwestern and Central Europe were much more heterogeneous than those from Northeastern Europe. These findings will inform the development of more efficient FANCM genetic testing strategies for breast cancer cases from specific European populations.

Published
2023

100. Strategies for mainstreaming nature-based solutions in urban governance capacities in ten European cities

Author

Hölscher, Katharina, Frantzeskaki, Niki, Collier, Marcus John, Connop, Stuart, Kooijman, Esmee D., Lodder, Marleen, McQuaid, Siobhan, Vandergert, Paula, Xidous, Dimitra, Bešlagić, Lejla, Dick, Gillian, Dumitru, Adina, Dziubała, Agnieszka, Fletcher, Isobel, Adank, Cristian Garcia Espina, Vázquez, María González, Madajczyk, Natalia, Malekkidou, Eleni, Mavroudi, Maria, Loizou, Eleftherios, Osipiuk, Agnieszka, Pasic, Belma, González, Antonio Prieto, Quartier, Mien, Schepers, Selina, Suljević, Nermina, Trendafilov, Ivaylo, Van De Sijpe, Katrien, Velikova, Velichka, Vos, Peter, Hölscher, Katharina, Frantzeskaki, Niki, Collier, Marcus John, Connop, Stuart, Kooijman, Esmee D., Lodder, Marleen, McQuaid, Siobhan, Vandergert, Paula, Xidous, Dimitra, Bešlagić, Lejla, Dick, Gillian, Dumitru, Adina, Dziubała, Agnieszka, Fletcher, Isobel, Adank, Cristian Garcia Espina, Vázquez, María González, Madajczyk, Natalia, Malekkidou, Eleni, Mavroudi, Maria, Loizou, Eleftherios, Osipiuk, Agnieszka, Pasic, Belma, González, Antonio Prieto, Quartier, Mien, Schepers, Selina, Suljević, Nermina, Trendafilov, Ivaylo, Van De Sijpe, Katrien, Velikova, Velichka, and Vos, Peter

Abstract

This paper explores the institutional mainstreaming of nature-based solutions (NBS) to advance a process-based understanding about how to strategically develop the governance capacities needed for systemic, localised and inclusive NBS. To this end, it reports how policy officers in ten European cities have started to mainstream NBS by interacting with and changing incumbent governance arrangements when experimenting with novel governance processes and mechanisms to plan, deliver and steward NBS. Based on these activities of the policy officers, the analysis identifies three strategies, associated stepping stones and changes in governance conditions, to mainstream NBS in governance capacities: institutionalising (a) a systems’ approach to link NBS to policies, regulations, and departments across goals and sectors, (b) inclusive collaborations for localised and inclusive interventions, and (c) reflexivity and learning about how NBS interact with the (institutional, ecological, social, etc.) contexts and create impacts. The strategies illustrate institutional entrepreneurship in interacting with incumbent governance contexts, and how starting from NBS as a type of systemic innovation can promote broader shifts in urban governance arrangements.

Published
2023

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