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Edwinsdotter Ardnor, C., Rosén, A., Ljuslinder, I. & Melin, B. S. (2019). The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden. Familial Cancer, 18(1), 37-42
Open this publication in new window or tab >>The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden
2019 (English)In: Familial Cancer, ISSN 1389-9600, E-ISSN 1573-7292, Vol. 18, no 1, p. 37-42Article in journal (Refereed) Published
Abstract [en]

The clinical management of BRCA1/2 mutation carriers requires accurate cancer risk estimates. Cancer risks vary according to type and location of the mutation and since there is limited information about mutation-specific cancer risks, genotype-phenotype correlation studies are needed. This is a report of 22 families with the same mutation, BRCA1 duplication exon 13, a mutation that is found world-wide, with the objective to describe the cancer history found in these families. We studied 69 confirmed carriers, 53 women and 16 men, and additionally 29 women who were clinically expected carriers. Among the confirmed carriers, 27 women (51%) were diagnosed with breast cancer, 10 (19%) with ovarian cancer, 5 (9%) with breast and ovarian cancer and 17 (32%) without cancer. Nine women (17%) with breast cancer were 35 years or younger at diagnose. Also, two cases of early onset colon cancer were found, and 37,5% of the male carriers were diagnosed with prostate cancer. These data may have implications for risk assessment and cancer prevention decision making for carriers of the BRCA1 duplication exon 13 mutation.

Place, publisher, year, edition, pages
Springer, 2019
Keywords
BRCA1, BRCA1 ins6kbEx13, Breast cancer, Ovarian cancer, Prostate cancer, Colon cancer
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:umu:diva-155774 (URN)10.1007/s10689-018-0098-y (DOI)000455137200005 ()30136106 (PubMedID)
Funder
Västerbotten County Council
Available from: 2019-01-28 Created: 2019-01-28 Last updated: 2019-01-28Bibliographically approved
Norberg, A., Rosén, A., Raaschou-Jensen, K., Kjeldsen, L., Moilanen, J. S., Paulsson-Karisson, Y., . . . Hultdin, M. (2018). Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. European Journal of Human Genetics, 26(6), 858-867
Open this publication in new window or tab >>Novel variants in Nordic patients referred for genetic testing of telomere-related disorders
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2018 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 6, p. 858-867Article in journal (Refereed) Published
Abstract [en]

Telomere-related disorders are a clinically and genetically heterogeneous group of disorders characterized by premature telomere shortening and proliferative failure of a variety of tissues. This study reports the spectrum of telomere-related gene variants and telomere length in Nordic patients referred for genetic testing due to suspected telomere-related disorder. We performed Sanger sequencing of the genes TERT, TERC, DKC1, and TINF2 on 135 unrelated index patients and measured telomere length by qPCR on DNA from peripheral blood leukocytes. We identified pathogenic or likely pathogenic variants in 10 index patients, all of which had short telomeres compared to age-matched healthy controls. Six of the 10 variants were novel; three in TERC (n.69_74dupAGGCGC, n.122_125delGCGG, and n.407_408delinsAA) and three in TERT (p.(D684G), p.(R774*), and p.(*1133Wext*39)). The high proportion of novel variants identified in our study highlights the need for solid interpretation of new variants that may be detected. Measurement of telomere length is a useful approach for evaluating pathogenicity of genetic variants associated with telomere-related disorders.

Place, publisher, year, edition, pages
Nature Publishing Group, 2018
National Category
Medical Genetics
Identifiers
urn:nbn:se:umu:diva-149013 (URN)10.1038/s41431-018-0112-8 (DOI)000433424200010 ()29483670 (PubMedID)2-s2.0-85042538231 (Scopus ID)
Available from: 2018-06-15 Created: 2018-06-15 Last updated: 2018-06-15Bibliographically approved
Sandström, O., Rosén, A. & Ivarsson, A. (2016). Role of HLA-DQ Genotyping in Celiac Disease [Letter to the editor]. Journal of Pediatric Gastroenterology and Nutrition - JPGN, 62(3), E30-E31
Open this publication in new window or tab >>Role of HLA-DQ Genotyping in Celiac Disease
2016 (English)In: Journal of Pediatric Gastroenterology and Nutrition - JPGN, ISSN 0277-2116, E-ISSN 1536-4801, Vol. 62, no 3, p. E30-E31Article in journal, Letter (Refereed) Published
Keywords
Celiac Disease, Mass Screening
National Category
Public Health, Global Health, Social Medicine and Epidemiology
Identifiers
urn:nbn:se:umu:diva-118786 (URN)000371308000003 ()
Available from: 2016-04-22 Created: 2016-04-04 Last updated: 2018-06-07Bibliographically approved
Sandström, O., Rosén, A. & Ivarsson, A. (2016). Role of HLA-DQ Genotyping in Celiac Disease [Letter to the editor]. Journal of Pediatric Gastroenterology and Nutrition - JPGN, 62(3), E30-E31
Open this publication in new window or tab >>Role of HLA-DQ Genotyping in Celiac Disease
2016 (English)In: Journal of Pediatric Gastroenterology and Nutrition - JPGN, ISSN 0277-2116, E-ISSN 1536-4801, Vol. 62, no 3, p. E30-E31Article in journal, Letter (Refereed) Published
Keywords
pediatrics
National Category
Pediatrics Gastroenterology and Hepatology
Identifiers
urn:nbn:se:umu:diva-118790 (URN)10.1097/MPG.0000000000001037 (DOI)000371308000003 ()26594829 (PubMedID)
Available from: 2016-04-11 Created: 2016-04-04 Last updated: 2018-06-07Bibliographically approved
Webb, C., Norström, F., Myléus, A., Ivarsson, A., Halvarsson, B., Högberg, L., . . . Carlsson, A. (2015). Celiac disease can be predicted by high levels of anti-tissue transglutaminase antibodies in population-based screening. Journal of Pediatric Gastroenterology and Nutrition - JPGN, 60(6), 787-791
Open this publication in new window or tab >>Celiac disease can be predicted by high levels of anti-tissue transglutaminase antibodies in population-based screening
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2015 (English)In: Journal of Pediatric Gastroenterology and Nutrition - JPGN, ISSN 0277-2116, E-ISSN 1536-4801, Vol. 60, no 6, p. 787-791Article in journal (Refereed) Published
Abstract [en]

OBJECTIVES: To evaluate any potential correlation between anti-tissue transglutaminase antibodies of type immunoglobulin A (tTG-IgA) and the degree of gluten induced enteropathy in children participating in a screening study for celiac disease (CD) and to assess to what extent the revised ESPGHAN (European Society for Paediatric Gastroenterology, Hepatology and Nutrition) guidelines cover this group of patients.

METHODS: This is a sub-study of a cross-sectional CD screening study, ETICS (Exploring the Iceberg of Celiacs in Sweden), a two-phased study performed during 2005-2006 and 2009-2010. The 13,279 participating children had a blood test obtained and those with positive tTG-IgA were recommended a small intestinal biopsy. The tTG-IgA levels at the time of biopsy were compared with the assessment of the biopsy.

RESULTS: There were 267 children included, of whom 230 were diagnosed with CD. Out of all children, 67 children had low tTG-IgA levels (<5 U/mL), whereof 55% had Marsh 3 lesions. All children with tTG-IgA levels exceeding 10 times the upper limit of normal values of 5 U/mL, i.e. 50 U/mL, were diagnosed with CD. Lowering the cut-off to 3 U/mL, all but one child with 30 U/mL got CD diagnosis.

CONCLUSION: By adapting the revised ESPGHAN criteria, biopsies could have been omitted in a fourth of all cases. Our results indicate, that the criteria might be useful even on screened children. Further studies are needed to confirm whether the 2012 ESPGHAN guidelines should be revised to also apply to the populations being screened.

Place, publisher, year, edition, pages
Lippincott Williams & Wilkins, 2015
Keywords
celiac disease, diagnosis, enteropathy, screening, serological markers
National Category
Gastroenterology and Hepatology Pediatrics Nutrition and Dietetics
Identifiers
urn:nbn:se:umu:diva-97984 (URN)10.1097/MPG.0000000000000688 (DOI)000355242100016 ()25564816 (PubMedID)
Available from: 2015-01-12 Created: 2015-01-12 Last updated: 2018-06-07Bibliographically approved
Webb, C., Myléus, A., Norström, F., Hammarroth, S., Högberg, L., Lagerqvist, C., . . . Carlsson, A. (2015). High adherence to a gluten-free diet in adolescents with screening-detected celiac disease. Journal of Pediatric Gastroenterology and Nutrition - JPGN, 60(1), 54-59
Open this publication in new window or tab >>High adherence to a gluten-free diet in adolescents with screening-detected celiac disease
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2015 (English)In: Journal of Pediatric Gastroenterology and Nutrition - JPGN, ISSN 0277-2116, E-ISSN 1536-4801, Vol. 60, no 1, p. 54-59Article in journal (Refereed) Published
Abstract [en]

OBJECTIVES: To evaluate the gluten-free diet (GFD) adherenceafter one year of follow-up in children with screening-detected celiac disease (CD) in a general population. METHODS: A total of 18,325 12 year olds were invited to participate in apopulation-based CD screening (ETICS- Exploring the Iceberg of Celiacs in Sweden), of whom 13,279 participated. In 240 children, CD was detected through elevated anti-tissue transglutaminase antibodies 2 (TG2-IgA) and verified by a small-intestinal biopsy. This sub-study included the 210 children with TG2-IgAevaluated both at the initialbiopsy occasion and at the one-year follow-up. GFD adherence was evaluated by a combination of TG2-IgA measurements and self-reported adherence (n = 193). RESULTS: After one year, 83% (179/210) had normalizedTG2-IgA levels (<5U/mL). Among those who had >50 U/mL at diagnosis,25% (16/63) still had elevated TG2-IgA but for the majority their initial values were more than halved. Most reported a high level ofGFD adherence ('always' 75%(158/193) and 'often' 14%(30/193)), and 75% (145/193) reported always adhereingcombined with normalized TG2-IgA. Although reporting that they were always adherent, 13 (6.7%) had not yet normalized their TG2-IgA levels completely, however, a majority of these initially had the highestTG2-IgA levels. CONCLUSIONS: GFD adherence is high in adolescents with CD detected by screening of the general population of Swedish 12yearolds. Almost all had normalized serology and reported GFD adherenceat the one-year follow-up. However, a few adolescents whoreported GFD adherence still had elevated TG2-IgA levelssuggesting more severe disease and/or non-adherence.

Place, publisher, year, edition, pages
Lippincott Williams & Wilkins, 2015
Keywords
adolescents, anti-tissue transglutaminase antibodies, celiac disease, gluten-free diet, screening
National Category
Pediatrics Public Health, Global Health, Social Medicine and Epidemiology Gastroenterology and Hepatology Nutrition and Dietetics
Identifiers
urn:nbn:se:umu:diva-93535 (URN)10.1097/MPG.0000000000000571 (DOI)000348460100017 ()25238121 (PubMedID)
Available from: 2014-09-24 Created: 2014-09-24 Last updated: 2018-06-07Bibliographically approved
van der Pals, M., Myléus, A., Norström, F., Hammarroth, S., Högberg, L., Rosén, A., . . . Carlsson, A. (2014). Body mass index is not a reliable tool in predicting celiac disease in children. BMC Pediatrics, 14, 165
Open this publication in new window or tab >>Body mass index is not a reliable tool in predicting celiac disease in children
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2014 (English)In: BMC Pediatrics, ISSN 1471-2431, E-ISSN 1471-2431, Vol. 14, p. 165-Article in journal (Refereed) Published
Abstract [en]

Background: Untreated celiac disease is traditionally believed to be associated with malabsorption and underweight. However, studies describing body mass index (BMI) in individuals at the time of diagnosis have shown contradictory results. We investigated the differences in weight, height, and BMI in 12- year-old children with screening-detected celiac disease compared to their healthy peers.

Methods: In a population-based screening study of 12,632 12-year-old children, blood samples were analyzed for markers of celiac disease. Children with elevated markers were referred for a small bowel biopsy. Weight and height were measured in 239 out of 242 children with screening-detected celiac disease (57.3% girls) and in 12,227 children without celiac disease (48.5% girls). BMI was categorized according to the International Obesity Task Force. Age- and sex-specific cut-off points for underweight, normal weight, and overweight were used.

Results: Children with celiac disease weighed less and were shorter than their peers (median weight 45.2 kg, interquartile range (IQR) 40.2-52.2 kg vs. 47.0 kg, IQR 41.1-54.4 kg, respectively, p = 0.01; median height 156.5 cm, IQR 151.0-162.0 cm vs. 157.5 cm, IQR 152.0-163.0 cm, respectively, p = 0.04). In comparing those with celiac disease to their healthy peers, 4.2% vs. 5.2% were underweight, 82.0% vs. 72.8% were normal weight, and 13.8% vs. 21.9% were overweight, respectively. There was no association between being underweight and the risk of having undiagnosed celiac disease (Odds ratio (OR) 1.3, 95% CI 0.7-2.4), but the risk was significantly lower among overweight children (OR 0.56, 95% CI 0.4-0.8). Median BMI was slightly lower among the children with screening-detected celiac disease compared to their healthy peers (18.6 kg/m(2), IQR 17.1-19.8 kg/m(2) vs. 18.8 kg/m(2), IQR 17.2-21.1 kg/m(2), respectively, p = 0.05), but most of the celiac disease cases had a normal BMI.

Conclusions: At a population level, children with celiac disease weigh less, are shorter, and have a lower BMI compared to their peers without celiac disease, and this emphasizes the importance of early recognition and treatment of the condition. However, at an individual level, growth parameters are not reliable in establishing the diagnosis.

Place, publisher, year, edition, pages
BioMed Central, 2014
Keywords
Body mass index, Celiac disease, Children, Height, Screening study, Weight
National Category
Public Health, Global Health, Social Medicine and Epidemiology Pediatrics
Identifiers
urn:nbn:se:umu:diva-91762 (URN)10.1186/1471-2431-14-165 (DOI)000338894900001 ()
Available from: 2014-08-18 Created: 2014-08-15 Last updated: 2018-06-07Bibliographically approved
Romanos, J., Rosén, A., Kumar, V., Trynka, G., Franke, L., Szperl, A., . . . Wijmenga, C. (2014). Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants. Gut, 63(3), 415-422
Open this publication in new window or tab >>Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants
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2014 (English)In: Gut, ISSN 0017-5749, E-ISSN 1468-3288, Vol. 63, no 3, p. 415-422Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: The majority of coeliac disease (CD) patients are not being properly diagnosed and therefore remain untreated, leading to a greater risk of developing CD-associated complications. The major genetic risk heterodimer, HLA-DQ2 and DQ8, is already used clinically to help exclude disease. However, approximately 40% of the population carry these alleles and the majority never develop CD. OBJECTIVE: We explored whether CD risk prediction can be improved by adding non-HLA-susceptible variants to common HLA testing. DESIGN: We developed an average weighted genetic risk score with 10, 26 and 57 single nucleotide polymorphisms (SNP) in 2675 cases and 2815 controls and assessed the improvement in risk prediction provided by the non-HLA SNP. Moreover, we assessed the transferability of the genetic risk model with 26 non-HLA variants to a nested case-control population (n=1709) and a prospective cohort (n=1245) and then tested how well this model predicted CD outcome for 985 independent individuals. RESULTS: Adding 57 non-HLA variants to HLA testing showed a statistically significant improvement compared to scores from models based on HLA only, HLA plus 10 SNP and HLA plus 26 SNP. With 57 non-HLA variants, the area under the receiver operator characteristic curve reached 0.854 compared to 0.823 for HLA only, and 11.1% of individuals were reclassified to a more accurate risk group. We show that the risk model with HLA plus 26 SNP is useful in independent populations. CONCLUSIONS: Predicting risk with 57 additional non-HLA variants improved the identification of potential CD patients. This demonstrates a possible role for combined HLA and non-HLA genetic testing in diagnostic work for CD.

Keywords
Celiac Disease, Coeliac Disease, Genetic Testing, Hla, Molecular Genetics
National Category
Gastroenterology and Hepatology
Identifiers
urn:nbn:se:umu:diva-71405 (URN)10.1136/gutjnl-2012-304110 (DOI)000330815200010 ()23704318 (PubMedID)
Available from: 2013-05-28 Created: 2013-05-28 Last updated: 2018-06-08Bibliographically approved
Nordyke, K., Rosén, A., Emmelin, M. & Ivarsson, A. (2014). Internalizing the threat of risk: a qualitative study about adolescents' experience living with screening-detected celiac disease 5 years after diagnosis. Health and Quality of Life Outcomes, 12, Article ID 91.
Open this publication in new window or tab >>Internalizing the threat of risk: a qualitative study about adolescents' experience living with screening-detected celiac disease 5 years after diagnosis
2014 (English)In: Health and Quality of Life Outcomes, ISSN 1477-7525, E-ISSN 1477-7525, Vol. 12, article id 91Article in journal (Other academic) Published
Abstract [en]

BACKGROUND: Mass screening could identify those with unrecognized celiac disease (CD), but the experience of being detected through screening and living with screening-detected CD should be explored before considering this as acceptable intervention. For this study we invited screening-detected adolescents to describe their experience living with screening-detected CD five years after diagnosis with the aim to explore how their perceptions, practices, and beliefs evolved.

METHODS: Adolescents who were diagnosed through a population-based CD screening were invited to write narratives after being diagnosed. Of 153 adolescents who were eventually diagnosed through the screening, 91 wrote narratives one year after diagnosis and 72 five years after diagnosis. A qualitative content analysis resulted in a theme and categories that describe the experience living with screening-detected CD five years after diagnosis.

RESULTS: The overall theme - "Internalizing the threat of risk" - illustrates that being detected through screening and the internalized threat of future health complications have impacted how these adolescents felt about the diagnosis, coped with the gluten-free diet (GFD), and thought about CD screening. This theme is supported by four categories: maintaining an imposed disease identity describes how they continued to define their diagnosis in relation to the screening. They also expressed moving from forced food changes to adapted diet routines by describing habits, routines, coping strategies, and the financial burden of the GFD. They had enduring beliefs of being spared negative consequences, however, even after five years, some doubted they had CD and worried that being detected and eating a GFD might not be beneficial, i.e. "continuing to fear it is "all in vain".

CONCLUSIONS: There was maintenance and evolution in the perceptions, practices, and beliefs of the adolescents after five years. Some have adjusted to the disease and adapted new habits and coping strategies to deal with the GFD, while others still doubt they have CD or that being detected was beneficial. The transition to adapting to the disease and GFD is ongoing, illustrating the importance of providing ongoing support for those with screening-detected CD as they adjust to this chronic disease and the GFD.

Place, publisher, year, edition, pages
BioMed Central, 2014
Keywords
Adolescents, Celiac disease, Gluten-free diet, Narratives, Qualitative research, Screening
National Category
Public Health, Global Health, Social Medicine and Epidemiology Health Care Service and Management, Health Policy and Services and Health Economy
Research subject
Public health
Identifiers
urn:nbn:se:umu:diva-81688 (URN)10.1186/1477-7525-12-91 (DOI)000338314500001 ()24915870 (PubMedID)
Note

Originally included in thesis in manuscript form.

Available from: 2013-10-21 Created: 2013-10-21 Last updated: 2018-06-25Bibliographically approved
Rosén, A., Sandström, O., Carlsson, A., Högberg, L., Olén, O., Stenlund, H. & Ivarsson, A. (2014). Usefulness of symptoms to screen for celiac disease. Pediatrics, 133(2), 211-218
Open this publication in new window or tab >>Usefulness of symptoms to screen for celiac disease
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2014 (English)In: Pediatrics, ISSN 0031-4005, E-ISSN 1098-4275, Vol. 133, no 2, p. 211-218Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: To describe the frequency of symptoms and associated conditions among screening-detected celiac disease (CD) cases and non-CD children and to evaluate questionnaire-based case-finding targeting the general population.

METHODS: In a population-based CD screening of 12-year-olds, children and their parents completed questionnaires on CD-associated symptoms and conditions before knowledge of CD status. Questionnaire data for those who had their CD detected in the screening (n = 153) were compared with those of children with normal levels of CD markers (n = 7016). Hypothetical case-finding strategies were also evaluated. Questionnaires were returned by 7054 (98%) of the children and by 6294 (88%) of their parents.

RESULTS: Symptoms were as common among screening-detected CD cases as among non-CD children. The frequency of children with screening-detected CD was similar when comparing the groups with and without any CD-related symptoms (2.1% vs 2.1%; P = .930) or CD-associated conditions (3.6% vs 2.1%; P = .07). Case-finding by asking for CD-associated symptoms and/or conditions would have identified 52 cases (38% of all cases) at a cost of analyzing blood samples for 2282 children (37%) in the study population.

CONCLUSIONS: The current recommended guidelines for finding undiagnosed CD cases, so-called active case-finding, fail to identify the majority of previously undiagnosed cases if applied in the general population of Swedish 12-year-olds. Our results warrant further studies on the effectiveness of CD case-finding in the pediatric population, both at the clinical and population-based levels.

Keywords
case-finding, celiac disease, questionnaire, screening, symptom
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:umu:diva-88852 (URN)10.1542/peds.2012-3765 (DOI)000333413600006 ()24420802 (PubMedID)
Available from: 2014-05-16 Created: 2014-05-16 Last updated: 2018-06-07Bibliographically approved
Projects
Direct Information to at-risk Relatives ? A randomized Controlled Trial on direct versus family-mediated information on cancer risk and prevention (DIRECT-study) [2018-00964_Forte]; Umeå University
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0003-2441-2395

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