Annelie Augustinsson

Dr. Annelie Augustinsson

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Research Focus & Metrics

Academic Career Length

12Years (2015-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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14 January 2022 in European Journal of Human Genetics
Verified
Journal Article
Open access
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EDEileen O Dareng
Eileen O Dareng
JTJonathan P Tyrer
Jonathan P Tyrer
DBDaniel Barnes
Daniel Barnes
MJMichelle R Jones
Michelle R Jones
XYXin Yang
Xin Yang
PPPaul Pharoah
Paul Pharoah
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, “select and shrink for summary statistics” (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28–1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08–1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21–1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29–1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35–1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.

2 August 2021 in British Journal of Cancer
Verified
Journal Article
Open access
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HPHanla A. Park
Hanla A. Park
SNSonja Neumeyer
Sonja Neumeyer
KMKyriaki Michailidou
Kyriaki Michailidou
MBManjeet K. Bolla
Manjeet K. Bolla
QWQin Wang
Qin Wang
JCJenny Chang-Claude
Jenny Chang-Claude
Background: Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk. Methods: We applied Mendelian randomisation (MR) to evaluate a potential causal effect of cigarette smoking on breast cancer risk. Both individual-level data as well as summary statistics for 164 single-nucleotide polymorphisms (SNPs) reported in genome-wide association studies of lifetime smoking index (LSI) or cigarette per day (CPD) were used to obtain MR effect estimates. Data from 108,420 invasive breast cancer cases and 87,681 controls were used for the LSI analysis and for the CPD analysis conducted among ever-smokers from 26,147 cancer cases and 26,072 controls. Sensitivity analyses were conducted to address pleiotropy. Results: Genetically predicted LSI was associated with increased breast cancer risk (OR 1.18 per SD, 95% CI: 1.07–1.30, P = 0.11 × 10–2), but there was no evidence of association for genetically predicted CPD (OR 1.02, 95% CI: 0.78–1.19, P = 0.85). The sensitivity analyses yielded similar results and showed no strong evidence of pleiotropic effect. Conclusion: Our MR study provides supportive evidence for a potential causal association with breast cancer risk for lifetime smoking exposure but not cigarettes per day among smokers.

22 November 2017 in Acta Oncologica
Verified
Journal Article
Closed access
AAAnnelie Augustinsson
Annelie Augustinsson
CECarolina Ellberg
Carolina Ellberg
UKUlf Kristoffersson
Ulf Kristoffersson
ÅBÅke Borg
Åke Borg
HOHåkan Olsson
Håkan Olsson
Background: The main objectives of this study were to evaluate the concordance between self-reported and registry-reported information regarding family history of breast cancer (BC), ovarian cancer (OvC) and other types of cancer in first-degree relatives of patients with early onset BC, and to determine the frequency of mutation carriers and non-mutation carriers. The secondary objective was to describe tumor characteristics for each mutation group. Material and methods: Between 1993 and 2013, 231 women who were ≤35 years old when diagnosed with BC were registered at the Oncogenetic Clinic at Skåne University Hospital in Lund, Sweden. Self-reported and registry-reported information regarding first-degree family history of cancer was collected together with information regarding tumor characteristics. Results: Almost perfect agreement was observed between self-reported and registry-reported information regarding first-degree family history of BC (κ = 0.92) and OvC (κ = 0.86). Lesser agreement was observed between reports regarding family history of other types of cancer (κ = 0.51). Mutation screening revealed pathogenic germline mutations in 30.4%; 18.8% in BRCA1, 7.1% in BRCA2 and 4.5% in other genes. Compared with other mutation groups, BRCA1 mutation carriers were more likely to be diagnosed with high-grade, ER-, PR- and triple-negative tumors. Conclusions: Our results demonstrate that physicians and genetic counselors can rely on self-reported information regarding BC and OvC in first-degree relatives. However, self-reported information regarding other types of cancer is not communicated as effectively, and there should be more focus on retrieving the correct information regarding family history of all tumor types. Furthermore, we observed that even though all BC patients fulfilled the criteria for genetic counseling and testing, a large number of patients diagnosed at ≤35 years of age did not receive genetic counseling at the Oncogenetic Clinic. This finding merits further elucidation.

5 March 2025 in Radiography
Verified
Journal Article
Open access
JGJ. Gårdling
J. Gårdling
CVC. Viseu
C. Viseu
EHE. Hettinger
E. Hettinger
PJPether Jildenstål
Pether Jildenstål
AAAnnelie Augustinsson
Annelie Augustinsson
The primary objective was to map the impact on confidence and performance on radiographic examinations among undergraduate radiography students utilizing virtual reality (VR). The secondary objective was to identify potential pitfalls to avoid in future VR implementation. A systematic review was conducted, which included comprehensive search in nine databases. The software Covidence was used for screening. Nine studies were included after quality assurance using the Critical Appraisal Skills Programme (CASP). Data extraction consisted of participant characteristics, study design, relevant statistical results, study limitations, and conclusions. Key findings were summarized in a systematic synthesis. VR compared to traditional skills training provides an advantage in students' assessed performance in both equipment and patient positioning, as well as self-reported confidence within equipment positioning, selection of exposure parameters, and radiation safety. For successful outcome, factors to consider were the size of the VR room, VR tutorials, the length of the VR-session, a realistic VR environment, feedback from the VR system, and the opportunity to interact with patients, both verbally and palpatory. VR is a feasible tool, providing students with a safe, engaging, and controlled environment. Students may apply their theoretical knowledge into real-life scenarios, which develop students' clinical skills, critical thinking, and decision-making abilities. Although VR has shown positive effects, VR alone does not guarantee increased performance and confidence in students. Research within this field is deficient, hence further research is needed to confirm the effect of VR, preferably case-control or randomized studies.

5 November 2025 in European journal of pain
Verified
Journal Article
Open access
KLKarsten Lomholt Lassen
Karsten Lomholt Lassen
KHKristian Hermander
Kristian Hermander
PJPether Jildenstål
Pether Jildenstål
NCNanna Christiansen
Nanna Christiansen
AAAnnelie Augustinsson
Annelie Augustinsson
AGAnja Geisler
Anja Geisler
Background and Objective: Virtual reality (VR) is a rapidly evolving technology that is currently utilized in hospital settings for various types of surgical procedures. The extent to which VR is evident in improving patient outcomes is unknown. This systematic review assesses the impact of VR on adult patients undergoing elective surgical procedures. Databases and Data Treatment: The following databases were sought: CENTRAL, MEDLINE, EMBASE, and CINAHL. All studies published after 2017 were included. The risk of bias was assessed using the ROB2 and ROBINS‐I. Meta‐analyses and Trial Sequential Analyses were performed, and the quality of evidence was evaluated using the GRADE approach for the randomised controlled trials. Results: A total of 37 full‐text studies ( n = 3152) were included. VR significantly reduced anxiety measured by the Numeric Rating Scale ( p < 0.0001) and the State–Trait Anxiety Inventory ( p = 0.008). Furthermore, Numeric Rating Scale pain was significantly reduced ( p < 0.00005), with a significantly shorter recovery time and a non‐significant improvement in patient satisfaction. Adverse events were infrequent and mild, with no serious adverse events reported. The risk of bias was primarily “some concerns”, and the certainty of evidence ranged from moderate to low. Conclusions: VR appears effective in reducing pain and anxiety in adult patients in an in‐hospital setting. It offers a relatively safe adjunct to standard care with minimal side effects. However, heterogeneity in outcomes and the risk of bias suggest a need for more standardised, high‐quality trials. Significance Statement: This systematic review with meta‐analysis and trial sequential analysis provides updated evidence that virtual reality can significantly reduce anxiety and pain in patients undergoing surgical procedures. Through combining recent RCTs and cohort studies with robust methodological approaches, this review strengthens the evidence for VR as an effective non‐pharmacological intervention. With minimal adverse events and significant improvements in recovery time, VR represents a scalable tool that can strengthen multimodal strategies and promote safer and more comfortable patient experiences.

29 August 2019 in Scientific Reports
Verified
Journal Article
Open access
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TDThilo Dörk
Thilo Dörk
PPPaolo Peterlongo
Paolo Peterlongo
AMArto Mannermaa
Arto Mannermaa
MBManjeet K. Bolla
Manjeet K. Bolla
QWQin Wang
Qin Wang
DEDouglas F. Easton
Douglas F. Easton
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44–1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.