| 1. |
- Andersson, Andreas, et al.
(författare)
-
Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden
- 2020
-
Ingår i: Hereditary Cancer in Clinical Practice. - : Springer Science and Business Media LLC. - 1731-2302 .- 1897-4287. ; 18:1
-
Tidskriftsartikel (refereegranskat)abstract
- Background Targeted surveillance of at-risk individuals in families with increased risk of hereditary cancer is an effective prevention strategy if relatives are identified, informed and enrolled in screening programs. Despite the potential benefits, many eligible at-risk relatives remain uninformed of their cancer risk. This study describes the general public's opinion on disclosure of hereditary colorectal cancer (CRC) risk information, as well as preferences on the source and the mode of information. Methods A random sample of the general public was assessed through a Swedish citizen web-panel. Respondents were presented with scenarios of being an at-risk relative in a family that had an estimated increased hereditary risk of CRC; either 10% (moderate) or 70% (high) lifetime risk. A colonoscopy was presented as a preventive measure. Results were analysed to identify significant differences between groups using the Pearson's chi-square (chi(2)) test. Results Of 1800 invited participants, 977 completed the survey (54%). In the moderate and high-risk scenarios, 89.2 and 90.6% respectively, would like to receive information about a potential hereditary risk of CRC (chi 2,p = .755). The desire to be informed was higher among women (91.5%) than men (87.0%, chi 2,p = .044). No significant differences were found when comparing different age groups, educational levels, place of residence and having children or not. The preferred source of risk information was a healthcare professional in both moderate and high-risk scenarios (80.1 and 75.5%). However, 18.1 and 20.1% respectively would prefer to be informed by a family member. Assuming that healthcare professionals disclosed the information, the favoured mode of information was letter and phone (38.4 and 33.2%). Conclusions In this study a majority of respondents wanted to be informed about a potential hereditary risk of CRC and preferred healthcare professionals to communicate this information. The two presented levels of CRC lifetime risk did not significantly affect the interest in being informed. Our data offer insights into the needs and preferences of the Swedish population, providing a rationale for developing complementary healthcare-assisted communication pathways to realise the full potential of targeted prevention of hereditary CRC.
|
|
| 2. |
- Dahlin, Anna M., 1979-, et al.
(författare)
-
Genetic Variants in the 9p21.3 Locus Associated with Glioma Risk in Children, Adolescents, and Young Adults : A Case-Control Study
- 2019
-
Ingår i: Cancer Epidemiology, Biomarkers and Prevention. - : American Association for Cancer Research. - 1055-9965 .- 1538-7755. ; 28:7, s. 1252-1258
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Genome-wide association studies have identified germline genetic variants in 25 genetic loci that increase the risk of developing glioma in adulthood. It is not known if these variants increase the risk of developing glioma in children and adolescents and young adults (AYA). To date, no studies have performed genome-wide analyses to find novel genetic variants associated with glioma risk in children and AYA.Methods: We investigated the association between 8,831,628 genetic variants and risk of glioma in 854 patients diagnosed up to the age of 29 years and 3,689 controls from Sweden and Denmark. Recruitment of patients and controls was population based. Genotyping was performed using Illumina BeadChips, and untyped variants were imputed with IMPUTE2. We selected 41 established adult glioma risk variants for detailed investigation.Results: Three adult glioma risk variants, rs634537, rs2157719, and rs145929329, all mapping to the 9p21.3 (CDKN2B-AS1) locus, were associated with glioma risk in children and AYA. The strongest association was seen for rs634537 (odds ratioG = 1.21; 95% confidence interval = 1.09–1.35; P = 5.8 × 10−4). In genome-wide analysis, an association with risk was suggested for 129 genetic variants (P <1 × 10−5).Conclusions: Carriers of risk alleles in the 9p21.3 locus have an increased risk of glioma throughout life. The results from genome-wide association analyses require validation in independent cohorts.Impact: Our findings line up with existing evidence that some, although not all, established adult glioma risk variants are associated with risk of glioma in children and AYA. Validation of results from genome-wide analyses may reveal novel susceptibility loci for glioma in children and AYA.
|
|
| 3. |
- Dunér, David, et al.
(författare)
-
Society, Worldview and Outreach
- 2018
-
Ingår i: Astrobiology and Society in Europe Today. - Cham : Springer International Publishing. - 9783319962641 - 9783319962658 ; , s. 19-24
-
Bokkapitel (refereegranskat)
|
|
| 4. |
|
|
| 5. |
- Glimelius, Bengt, et al.
(författare)
-
U-CAN : a prospective longitudinal collection of biomaterials and clinical information from adult cancer patients in Sweden.
- 2018
-
Ingår i: Acta Oncologica. - : Taylor & Francis. - 0284-186X .- 1651-226X. ; 57:2, s. 187-194
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Progress in cancer biomarker discovery is dependent on access to high-quality biological materials and high-resolution clinical data from the same cases. To overcome current limitations, a systematic prospective longitudinal sampling of multidisciplinary clinical data, blood and tissue from cancer patients was therefore initiated in 2010 by Uppsala and Umeå Universities and involving their corresponding University Hospitals, which are referral centers for one third of the Swedish population.Material and Methods: Patients with cancer of selected types who are treated at one of the participating hospitals are eligible for inclusion. The healthcare-integrated sampling scheme encompasses clinical data, questionnaires, blood, fresh frozen and formalin-fixed paraffin-embedded tissue specimens, diagnostic slides and radiology bioimaging data.Results: In this ongoing effort, 12,265 patients with brain tumors, breast cancers, colorectal cancers, gynecological cancers, hematological malignancies, lung cancers, neuroendocrine tumors or prostate cancers have been included until the end of 2016. From the 6914 patients included during the first five years, 98% were sampled for blood at diagnosis, 83% had paraffin-embedded and 58% had fresh frozen tissues collected. For Uppsala County, 55% of all cancer patients were included in the cohort.Conclusions: Close collaboration between participating hospitals and universities enabled prospective, longitudinal biobanking of blood and tissues and collection of multidisciplinary clinical data from cancer patients in the U-CAN cohort. Here, we summarize the first five years of operations, present U-CAN as a highly valuable cohort that will contribute to enhanced cancer research and describe the procedures to access samples and data.
|
|
| 6. |
- Persson, Erik, et al.
(författare)
-
How Will the Emerging Plurality of Lives Change? : How We Conceive of and Relate to Life?
- 2019
-
Ingår i: Challenges. - : MDPI AG. - 2078-1547.
-
Tidskriftsartikel (refereegranskat)abstract
- The project “A Plurality of Lives” was funded and hosted by the Pufendorf Institute for Advanced Studies at Lund University, Sweden. The aim of the project was to better understand how a second origin of life, either in the form of a discovery of extraterrestrial life, life developed in a laboratory, or machines equipped with abilities previously only ascribed to living beings, will change how we understand and relate to life. Because of the inherently interdisciplinary nature of the project aim, the project took an interdisciplinary approach with a research group made up of 12 senior researchers representing 12 different disciplines. The project resulted in a joint volume, an international symposium, several new projects, and a network of researchers in the field, all continuing to communicate about and advance the aim of the project.
|
|
| 7. |
- Rentoft, Matilda, et al.
(författare)
-
Heterozygous colon cancer-associated mutations of SAMHD1 have functional significance
- 2016
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 113:17, s. 4723-4728
-
Tidskriftsartikel (refereegranskat)abstract
- Even small variations in dNTP concentrations decrease DNA replication fidelity, and this observation prompted us to analyze genomic cancer data for mutations in enzymes involved in dNTP metabolism. We found that sterile alpha motif and histidine-aspartate domain-containing protein 1 (SAMHD1), a deoxyribonucleoside triphosphate triphosphohydrolase that decreases dNTP pools, is frequently mutated in colon cancers, that these mutations negatively affect SAMHD1 activity, and that severalSAMHD1mutations are found in tumors with defective mismatch repair. We show that minor changes in dNTP pools in combination with inactivated mismatch repair dramatically increase mutation rates. Determination of dNTP pools in mouse embryos revealed that inactivation of oneSAMHD1allele is sufficient to elevate dNTP pools. These observations suggest that heterozygous cancer-associatedSAMHD1mutations increase mutation rates in cancer cells.
|
|
| 8. |
- Öfverholm, Anna, et al.
(författare)
-
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
- 2023
-
Ingår i: BMC Cancer. - : BioMed Central (BMC). - 1471-2407. ; 23:1
-
Tidskriftsartikel (refereegranskat)abstract
- BackgroundGenetic screening for pathogenic variants (PVs) in cancer predisposition genes can affect treatment strategies, risk prediction and preventive measures for patients and families. For decades, hereditary breast and ovarian cancer (HBOC) has been attributed to PVs in the genes BRCA1 and BRCA2, and more recently other rare alleles have been firmly established as associated with a high or moderate increased risk of developing breast and/or ovarian cancer. Here, we assess the genetic variation and tumor characteristics in a large cohort of women with suspected HBOC in a clinical oncogenetic setting.MethodsWomen with suspected HBOC referred from all oncogenetic clinics in Sweden over a six-year inclusion period were screened for PVs in 13 clinically relevant genes. The genetic outcome was compared with tumor characteristics and other clinical data collected from national cancer registries and hospital records.ResultsIn 4622 women with breast and/or ovarian cancer the overall diagnostic yield (the proportion of women carrying at least one PV) was 16.6%. BRCA1/2 PVs were found in 8.9% of women (BRCA1 5.95% and BRCA2 2.94%) and PVs in the other breast and ovarian cancer predisposition genes in 8.2%: ATM (1.58%), BARD1 (0.45%), BRIP1 (0.43%), CDH1 (0.11%), CHEK2 (3.46%), PALB2 (0.84%), PTEN (0.02%), RAD51C (0.54%), RAD51D (0.15%), STK11 (0) and TP53 (0.56%). Thus, inclusion of the 11 genes in addition to BRCA1/2 increased diagnostic yield by 7.7%. The yield was, as expected, significantly higher in certain subgroups such as younger patients, medullary breast cancer, higher Nottingham Histologic Grade, ER-negative breast cancer, triple-negative breast cancer and high grade serous ovarian cancer. Age and tumor subtype distributions differed substantially depending on genetic finding.ConclusionsThis study contributes to understanding the clinical and genetic landscape of breast and ovarian cancer susceptibility. Extending clinical genetic screening from BRCA1 and BRCA2 to 13 established cancer predisposition genes almost doubles the diagnostic yield, which has implications for genetic counseling and clinical guidelines. The very low yield in the syndrome genes CDH1, PTEN and STK11 questions the usefulness of including these genes on routine gene panels.
|
|
| 9. |
|
|
| 10. |
- Ahlgren, Madeleine, 1976-, et al.
(författare)
-
Self-reported symptoms of low energy availability among female elite athletes and controls
- 2023
-
Konferensbidrag (refereegranskat)abstract
- AimWe aimed to investigate symptoms of low energy availability (LEA) among athletes and recreational active people, and the associations with EDs, excessive exercise, and motivation for training and dietary behavioural changes. MethodsSwedish female national team athletes (n=150) from 26 sports, and recreational active women (n=108), 18-39 years were recruited via sport organizations and social media. Participants filled out an anonymous on-line survey comprising the LEA in Females Questionnaire (LEAF-Q), the Eating Disorder Examination Questionnaire (EDE-Q), the Major Depression Index (MDI), the Exercise Addiction Inventory (EAI), and the Motivation to Change Questionnaire (MCQ). LEAF-Q total score >8 and EDE-Q Global score >2.3 were used to classify participants as having symptoms of LEA and eating disorders (EDs), respectively.ResultsOf all participants, 47% had symptoms of LEA with no difference between elite athletes (47%) and controls (48%). Participants with LEA had lower body mass and BMI compared to those with no symptoms, while no differences were found in age or training load. Most of the participants with LEA (69%) did not have symptoms of EDs. However, when excluding all participants with ED symptoms (n=65), participants with LEA had higher EDE-Q sub scale scores, MDI and EAI scores, and they reported poorer health status and reduced ability to increase energy intake and to lower the training load compared to participants with no LEA symptoms. ConclusionOur findings confirm earlier indications that symptoms of LEA is frequent among elite athletes as well as sedentary people, and that most LEA cases do not have EDs. However, our findings suggest that symptoms of LEA may still be associated with poor well-being, restricted eating and excessive training behaviour and negative focus on body shape and weight. Reversing LEA by increased energy intake and/or reduced training load is the only treatment to prevent REDs health and performance implications. Our findings therefore emphasize the need for multidisciplinary prevention strategies to ensure necessary dietary and training behavioural changes.
|
|
