2023 |
Singh AK, Talseth-Palmer B, Xavier A, Scott RJ, Drabløs F, Sjursen W, 'Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.', BMC Med Genomics, 16 126 (2023) [C1]
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Nova |
2023 |
Wiik MU, Negline M, Beisvåg V, Clapham M, Holliday E, Dueñas N, et al., 'MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.', Sci Rep, 13 18783 (2023) [C1]
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Nova |
2022 |
Driller B, Talseth-Palmer B, Hole T, Strømskag KE, Brenne A-T, 'Cancer patients spend more time at home and more often die at home with advance care planning conversations in primary health care: a retrospective observational cohort study.', BMC Palliat Care, 21 61 (2022) [C1]
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Nova |
2021 |
Wiik MU, Evans T-J, Belhadj S, Bolton KA, Dymerska D, Jagmohan-Changur S, et al., 'A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.', Scientific reports, 11 11401 (2021) [C1]
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Nova |
2021 |
Xavier A, Scott RJ, Talseth-Palmer B, 'Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes', CLINICAL GENETICS, 100 478-483 (2021) [C1]
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Nova |
2020 |
Singh AK, Talseth-Palmer B, McPhillips M, Lavik LAS, Xavier A, Drablos F, Sjursen W, 'Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer', PLOS ONE, 15 (2020) [C1]
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Nova |
2019 |
Andersen-Hollekim TE, Kvangarsnes M, Landstad BJ, Talseth-Palmer BA, Hole T, 'Patient participation in the clinical pathway Nurses perceptions of adults involvement in haemodialysis', Nursing Open, 6 574-582 (2019) [C1]
Aim: To develop knowledge of nurses¿ perceptions of participation for patients treated with haemodialysis and their next of kin. Design: A qualitative study with a hermeneutic app... [more]
Aim: To develop knowledge of nurses¿ perceptions of participation for patients treated with haemodialysis and their next of kin. Design: A qualitative study with a hermeneutic approach. Methods: The data were collected in 2015 through focus groups with 13 nurses in Central Norway. Results: The nurses reported that patient participation ranging from non-involvement to shared decision-making was related to whether dialysis was initiated as acute or scheduled. The restrictions required in chronic haemodialysis limited participation. The next of kin were not involved. The nurses highlighted interventions on both the individual and system levels to strengthen participation. Conclusion: Dialysis units should develop strategies for participation related to individual needs and design treatment in cooperation with patients and their families, ensuring involvement early in the clinical pathway. Further research is needed on issues related to next of kin, including their desired level of involvement.
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Nova |
2019 |
Xavier A, Olsen MF, Lavik LA, Johansen J, Singh AK, Sjursen W, et al., 'Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome', MOLECULAR GENETICS & GENOMIC MEDICINE, 7 (2019) [C1]
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Nova |
2019 |
Xavier A, Scott RJ, Talseth-Palmer BA, 'TAPES: A tool for assessment and prioritisation in exome studies', PLoS Computational Biology, 15 (2019) [C1]
Next-generation sequencing continues to grow in importance for researchers. Exome sequencing became a widespread tool to further study the genomic basis of Mendelian diseases. In ... [more]
Next-generation sequencing continues to grow in importance for researchers. Exome sequencing became a widespread tool to further study the genomic basis of Mendelian diseases. In an effort to identify pathogenic variants, reject benign variants and better predict variant effects in downstream analysis, the American College of Medical Genetics (ACMG) published a set of criteria in 2015. While there are multiple publicly available software's available to assign the ACMG criteria, most of them do not take into account multi-sample variant calling formats. Here we present a tool for assessment and prioritisation in exome studies (TAPES, https://github.com/a-xavier/tapes), an open-source tool designed for small-scale exome studies. TAPES can quickly assign ACMG criteria using ANNOVAR or VEP annotated files and implements a model to transform the categorical ACMG criteria into a continuous probability, allowing for a more accurate classification of pathogenicity or benignity of variants. In addition, TAPES can work with cohorts sharing a common phenotype by utilising a simple enrichment analysis, requiring no controls as an input as well as providing powerful filtering and reporting options. Finally, benchmarks showed that TAPES outperforms available tools to detect both pathogenic and benign variants, while also integrating the identification of enriched variants in study cohorts compared to the general population, making it an ideal tool to evaluate a smaller cohort before using bigger scale studies.
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Nova |
2019 |
Røyset B, Talseth-Palmer BA, Lydersen S, Farup PG, 'Effects of a fall prevention program in elderly: A pragmatic observational study in two orthopedic departments', Clinical Interventions in Aging, 14 145-154 (2019) [C1]
Purpose: Falls are a common adverse event experienced by elderly in hospitals. This study assessed the effects of a fall prevention program on the rate of fallers, the patient saf... [more]
Purpose: Falls are a common adverse event experienced by elderly in hospitals. This study assessed the effects of a fall prevention program on the rate of fallers, the patient safety culture, and patient-perceived safety. Materials and methods: Two orthopedic departments in different towns in Norway participated in the study. A comprehensive, multifactorial fall prevention program was implemented in one of the departments, the other one was used for control. The changes in the outcomes in the two departments from before to after the intervention were compared. All patients above 64 years of age admitted to the two departments in a 1-year period before and after the intervention were included. All employees at the two departments were invited to participate in surveys measuring the patient safety culture, and a selection of the patients reported patient-perceived safety. The primary outcome was the rate of fallers. Secondary outcomes were the employees¿ perceived patient safety culture (measured with the Safety Attitudes Questionnaire) and patient-perceived safety (measured with Norwegian Patient Experience Questionnaire). Results: Falls were registered in 114 out of 3,143 patients (3.6%) with 17,006 days in the hospital. Ten patients had two falls, giving a fall rate of 7.3 falls/1,000 days in the hospital. The number of fallers before and after the intervention in the intervention department were 37/734 (5.04%) and 31/735 (4.22%), P=0.46, and in the control department, 25/811 (3.08%) and 21/863 (2.43%), P=0.46. The difference between the changes in the two departments was not statistically significant; 0.17% (95% CI:-2.49 to 2.84; P=0.90). There were also no significant differences in the changes in patient safety culture and patient-perceived safety. Conclusion: The fall prevention program revealed no significant effect on the rate of fallers, the patient safety culture, or patient-perceived safety.
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Nova |
2018 |
Holmes M, Connor T, Oldmeadow C, Pockney PG, Scott RJ, Talseth-Palmer BA, 'CD36-a plausible modifier of disease phenotype in familial adenomatous polyposis', HEREDITARY CANCER IN CLINICAL PRACTICE, 16 (2018) [C1]
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Nova |
2017 |
Hansen MF, Johansen J, Sylvander AE, Bjørnevoll I, Talseth-Palmer BA, Lavik LAS, et al., 'Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome', Clinical Genetics, 92 405-414 (2017) [C1]
Background: Many families with a high burden of colorectal cancer fulfil the clinical criteria for Lynch Syndrome. However, in about half of these families, no germline mutation i... [more]
Background: Many families with a high burden of colorectal cancer fulfil the clinical criteria for Lynch Syndrome. However, in about half of these families, no germline mutation in the mismatch repair genes known to be associated with this disease can be identified. The aim of this study was to find the genetic cause for the increased colorectal cancer risk in these unsolved cases. Materials and methods: To reach the aim, we designed a gene panel targeting 112 previously known or candidate colorectal cancer susceptibility genes to screen 274 patient samples for mutations. Mutations were validated by Sanger sequencing and, where possible, segregation analysis was performed. Results: We identified 73 interesting variants, of whom 17 were pathogenic and 19 were variants of unknown clinical significance in well-established cancer susceptibility genes. In addition, 37 potentially pathogenic variants in candidate colorectal cancer susceptibility genes were detected. Conclusion: In conclusion, we found a promising DNA variant in more than 25 % of the patients, which shows that gene panel testing is a more effective method to identify germline variants in CRC patients compared to a single gene approach.
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2017 |
Talseth-Palmer BA, 'The genetic basis of colonic adenomatous polyposis syndromes', HEREDITARY CANCER IN CLINICAL PRACTICE, 15 (2017)
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2016 |
Sjursen W, McPhillips M, Scott RJ, Talseth-Palmer BA, 'Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.', Molecular genetics & genomic medicine, 4 223-231 (2016) [C1]
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Nova |
2016 |
Masson AL, Talseth-Palmer BA, Evans TJ, McElduff P, Spigelman AD, Hannan GN, Scott RJ, 'Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients', Meta Gene, 7 95-104 (2016) [C1]
Familial Adenomatous Polyposis (FAP) is the second most common inherited predisposition to colorectal cancer (CRC) associated with the development of hundreds to thousands of aden... [more]
Familial Adenomatous Polyposis (FAP) is the second most common inherited predisposition to colorectal cancer (CRC) associated with the development of hundreds to thousands of adenomas in the colon and rectum. Mutations in APC are found in ~. 80% polyposis patients with FAP. In the remaining 20% no genetic diagnosis can be provided suggesting other genes or mechanisms that render APC inactive may be responsible. Copy number variants (CNVs) remain to be investigated in FAP and may account for disease in a proportion of polyposis patients. A cohort of 56 polyposis patients and 40 controls were screened for CNVs using the 2.7M microarray (Affymetrix) with data analysed using ChAS (Affymetrix). A total of 142 CNVs were identified unique to the polyposis cohort suggesting their involvement in CRC risk. We specifically identified CNVs in four unrelated polyposis patients among CRC susceptibility genes APC, DCC, MLH1 and CTNNB1 which are likely to have contributed to disease development in these patients. A recurrent deletion was observed at position 18p11.32 in 9% of the patients screened that was of particular interest. Further investigation is necessary to fully understand the role of these variants in CRC risk given the high prevalence among the patients screened.
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2016 |
Talseth-Palmer BA, Bauer DC, Sjursen W, Evans TJ, Mcphillips M, Proietto A, et al., 'Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families', Cancer Medicine, 5 929-941 (2016) [C1]
Causative germline mutations in mismatch repair (MMR) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC) syndrome ... [more]
Causative germline mutations in mismatch repair (MMR) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC) syndrome hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome (LS). Identification of these patients are critical as they are at substantially increased risk of developing multiple primary tumors, mainly colorectal and endometrial cancer (EC), occurring at a young age. This demonstrates the need to develop new and/or more thorough mutation detection approaches. Next-generation sequencing (NGS) was used to screen 22 genes involved in the DNA MMR pathway in constitutional DNA from 14 HNPCC and 12 sporadic EC patients, plus 2 positive controls. Several softwares were used for analysis and functional annotation. We identified 5 exonic indel variants, 42 exonic nonsynonymous single-nucleotide variants (SNVs) and 1 intronic variant of significance. Three of these variants were class 5 (pathogenic) or class 4 (likely pathogenic), 5 were class 3 (uncertain clinical relevance) and 40 were classified as variants of unknown clinical significance. In conclusion, we have identified two LS families from the sporadic EC patients, one without a family history of cancer, supporting the notion for universal MMR screening of EC patients. In addition, we have detected three novel class 3 variants in EC cases. We have, in addition discovered a polygenic interaction which is the most likely cause of cancer development in a HNPCC patient that could explain previous inconsistent results reported on an intronic EXO1 variant.
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Nova |
2014 |
Evans T-J, Milne E, Anderson D, de Klerk NH, Jamieson SE, Talseth-Palmer BA, et al., 'Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures.', PLoS One, 9 e110255 (2014) [C1]
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Nova |
2014 |
Masson AL, Talseth-Palmer BA, Evans TJ, Grice DM, Hannan GN, Scott RJ, 'Expanding the genetic basis of copy number variation in familial breast cancer', Hereditary Cancer in Clinical Practice, 12 (2014) [C1]
Introduction: Familial breast cancer (fBC) is generally associated with an early age of diagnosis and a higher frequency of disease among family members. Over the past two decades... [more]
Introduction: Familial breast cancer (fBC) is generally associated with an early age of diagnosis and a higher frequency of disease among family members. Over the past two decades a number of genes have been identified that are unequivocally associated with breast cancer (BC) risk but there remain a significant proportion of families that cannot be accounted for by these genes. Copy number variants (CNVs) are a form of genetic variation yet to be fully explored for their contribution to fBC. CNVs exert their effects by either being associated with whole or partial gene deletions or duplications and by interrupting epigenetic patterning thereby contributing to disease development. CNV analysis can also be used to identify new genes and loci which may be associated with disease risk.Methods: The Affymetrix Cytogenetic Whole Genome 2.7 M (Cyto2.7 M) arrays were used to detect regions of genomic re-arrangement in a cohort of 129 fBC BRCA1/BRCA2 mutation negative patients with a young age of diagnosis (<50 years) compared to 40 unaffected healthy controls (>55 years of age).Results: CNV analysis revealed the presence of 275 unique rearrangements that were not present in the control population suggestive of their involvement in BC risk. Several CNVs were found that have been previously reported as BC susceptibility genes. This included CNVs in RPA3, NBN (NBS1), MRE11A and CYP19A1 in five unrelated fBC patients suggesting that these genes are involved in BC initiation and/or progression. Of special interest was the identification of WWOX and FHIT rearrangements in three unrelated fBC patients.Conclusions: This study has identified a number of CNVs that potentially contribute to BC initiation and/or progression. The identification of CNVs that are associated with known tumour suppressor genes is of special interest that warrants further larger studies to understand their precise role in fBC. © 2014 Masson et al.; licensee BioMed Central Ltd.
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2013 |
Masson AL, Talseth-Palmer BA, Evans T-J, Grice DM, Duesing K, Hannan GN, Scott RJ, 'Copy number variation in hereditary non-polyposis colorectal cancer', Genes, 4 536-555 (2013) [C1]
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Nova |
2013 |
Talseth-Palmer BA, Wijnen JT, Barker D, Vasen HFA, Scott RJ, 'Is the reported modifying effect of 8q23.3 and 11q23.1 on colorectal cancer risk for MLH1 mutation carriers valid? Reply', INTERNATIONAL JOURNAL OF CANCER, 133 1764-1764 (2013) [C3]
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2013 |
Talseth-Palmer B, Wijnen JT, Brenne IS, Jagmohan-Changur S, Barker DJ, Ashton KA, et al., 'Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers', International Journal of Cancer, 132 1487-1729 (2013) [C1]
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Nova |
2013 |
Chen J, Pande M, Huang Y-J, Wei C, Amos CI, Talseth-Palmer BA, et al., 'Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients', CARCINOGENESIS, 34 299-306 (2013) [C1]
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Nova |
2013 |
Talseth-Palmer BA, Wijnen JT, Grice DM, Scott RJ, 'Genetic modifiers of cancer risk in Lynch syndrome: a review', FAMILIAL CANCER, 12 207-216 (2013) [C1]
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Nova |
2013 |
Talseth-Palmer BA, Wijnen JT, Andreassen EK, Barker D, Jagmohan-Changur S, Tops CM, et al., 'The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.', Hered Cancer Clin Pract, 11 20 (2013) [C1]
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Nova |
2013 |
Talseth-Palmer B, Holliday EG, Evans T-J, McEvoy MA, Attia JR, Grice DM, et al., 'Continuing difficulties in interpreting CNV data: Lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients', BMC Medical Genomics, 6 1-13 (2013) [C1]
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Nova |
2013 |
Picelli S, Lorenzo Bermejo J, Chang-Claude J, Hoffmeister M, Fernandez-Rozadilla C, Carracedo A, et al., 'Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility', PLOS ONE, 8 (2013) [C1]
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Nova |
2012 |
Talseth-Palmer B, Scott R, Vasen HFA, Wijnen JT, '8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome', European Journal of Human Genetics, 20 487-488 (2012) [C3]
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2011 |
Kiejda KA, Bowden NA, Croft AJ, Scurr LL, Kairupan CF, Ashton KA, et al., 'P53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to proliferation', BMC Cancer, 11 203-219 (2011) [C1]
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Nova |
2011 |
Talseth-Palmer B, Scott R, 'Genetic variation and its role in malignancy', International Journal of Biomedical Science, 7 158-171 (2011) [C1]
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Nova |
2011 |
Talseth-Palmer B, Brenne IS, Ashton KA, Evans T-J, McPhillips M, Groombridge C, et al., 'Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome', Journal of Medical Genetics, 48 279-284 (2011) [C1]
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Nova |
2011 |
Wong-Brown M, Nordfors C, Mossman D, Pecenpetelovska G, Kiejda KA, Talseth-Palmer B, et al., 'BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer', Breast Cancer Research and Treatment, 127 853-859 (2011) [C1]
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Nova |
2010 |
Talseth-Palmer B, McPhillips M, Groombridge C, Spigelman A, Scott R, 'MSH6 and PMS2 mutation positive Australian Lynch syndrome families: Novel mutations, cancer risk and age of diagnosis of colorectal cancer', Hereditary Cancer in Clinical Practice, 8 1-10 (2010) [C1]
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Nova |
2009 |
Shi Z, Johnstone DM, Talseth-Palmer B, Evans T-J, Spigelman AD, Groombridge C, et al., 'Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age', International Journal of Cancer, 125 78-83 (2009) [C1]
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Nova |
2009 |
Talseth-Palmer B, Bowden NA, Meldrum C, Nicholl J, Thompson E, Friend K, et al., 'A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology', Cytogenetic and Genome Research, 124 94-101 (2009) [C1]
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Nova |
2008 |
Talseth-Palmer B, Bowden NA, Hill A, Meldrum C, Scott R, 'Whole genome amplification and its impact on CGH array profiles', BMC Research Notes, 1 108 (2008) [C1]
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Nova |
2008 |
Talseth-Palmer B, Ashton KA, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Aurora-A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer', International Journal of Cancer, 122 1273-1277 (2008) [C1]
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Nova |
2007 |
Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'MDM2 SNP309 T \ G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients', International Journal of Cancer, 120 563-565 (2007) [C1]
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2007 |
Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer', Scandinavian Journal of Gastroenterology, 42 628-632 (2007) [C1]
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2006 |
Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53', International Journal of Cancer, 118 2479-2484 (2006) [C1]
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2006 |
Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Genetic polymorphisms in xenobiotic clearance genes and their influence on disease expression in hereditary nonpolyposis colorectal cancer patients', Cancer Epidemiology Biomarkers & Prevention, 15 2307-2310 (2006) [C1]
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2004 |
Holopainen P, Naluai ÅT, Moodie S, Percopo S, Coto I, Clot F, et al., 'Candidate gene region 2q33 in European families with coeliac disease', Tissue Antigens, 63 212-222 (2004)
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2003 |
Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, et al., 'Hla types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the european genetics cluster on celiac disease', Human Immunology, 64 469-477 (2003)
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2003 |
Louka AS, Moodie SJ, Karell K, Bolognesi E, Ascher H, Greco L, et al., 'A collaborative European search for non-DQA1*05-DQB1*02 celiac disease loci on HLA-DR3 haplotypes: Analysis of transmission from homozygous parents', HUMAN IMMUNOLOGY, 64 350-358 (2003)
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2003 |
Babron MC, Nilsson S, Adamovic S, Naluai AT, Wahlstrom J, Ascher H, et al., 'Meta and pooled analysis of European coeliac disease data', EUROPEAN JOURNAL OF HUMAN GENETICS, 11 828-834 (2003)
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2003 |
Louka AS, Lie BA, Talseth B, Ascher H, Ek J, Gudjonsdottir AH, Sollid LM, 'Coeliac disease patients carry conserved HLA-DR3-DQ2 haplotypes revealed by association of TNF alleles', Immunogenetics, 55 339-343 (2003) [C1]
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2002 |
Louka A, Nilsson S, Olsson M, Talseth B, Lie B, Ek J, et al., 'HLA in coeliac disease families: a novel test of risk modification by the 'other' haplotype when at least one DQA1*05-DQB1*02 haplotype is carried. (2002) [C1]
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2001 |
Kristinsson S, Thorolfsdottir E, Talseth B, Steingrimsson E, Thorsson A, Helgason T, et al., 'MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1. (2001) [C1]
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