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201. Hereditary Colorectal Cancer

Author

Stormorken, Astrid Tenden

Subjects
Medisinske Fag: 700::Klinisk medisinske fag: 750::Pediatri: 760 [VDP], Medisinske Fag: 700::Klinisk medisinske fag: 750 [VDP]
Published
2007

202. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)

Author

Frederik J. Hes, Julian R. Sampson, Fokko N. Nagengast, Gabriel Capellá, Yann Parc, Christoph Engel, Ian M. Frayling, Pål Møller, Ignacio Blanco, Laura Renkonen-Sinisalo, Waltraut Friedl, Astrid Stormorken, G Moslein, John Burn, Hans F. A. Vasen, Lucio Bertario, Jukka-Pekka Mecklin, Shirley Hodgson, Juul T. Wijnen, Inge Bernstein, Angel Alonso, Clinical sciences, Medical Genetics, and Faculty of Psychology and Educational Sciences

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Colon, Colorectal cancer, Review, Aetiology, screening and detection [ONCOL 5], Europe/epidemiology, 03 medical and health sciences, 0302 clinical medicine, Endometrial Neoplasms/epidemiology, Colon/pathology, Genetics, medicine, Humans, Genetic Testing, Molecular gastro-enterology and hepatology [IGMD 2], Genetics (clinical), Genetic testing, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], medicine.diagnostic_test, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Endometrial cancer, Cancer, 16. Peace & justice, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Lynch syndrome, Endometrial Neoplasms, 3. Good health, Europe, MSH6, Systematic review, MSH2, 030220 oncology & carcinogenesis, Family medicine, Practice Guidelines as Topic, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, 030211 gastroenterology & hepatology, business
Abstract

Item does not contain fulltext Lynch syndrome (hereditary non-polyposis colorectal cancer) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. The discovery of these genes, 15 years ago, has led to the identification of large numbers of affected families. In April 2006, a workshop was organised by a group of European experts in hereditary gastrointestinal cancer (the Mallorca-group), aiming to establish guidelines for the clinical management of Lynch syndrome. 21 experts from nine European countries participated in this workshop. Prior to the meeting, various participants prepared the key management issues of debate according to the latest publications. A systematic literature search using Pubmed and the Cochrane Database of Systematic Reviews reference lists of retrieved articles and manual searches of relevant articles was performed. During the workshop, all recommendations were discussed in detail. Because most of the studies that form the basis for the recommendations were descriptive and/or retrospective in nature, many of them were based on expert opinion. The guidelines described in this manuscript may be helpful for the appropriate management of families with Lynch syndrome. Prospective controlled studies should be undertaken to improve further the care of these families.

Published
2007

204. [A step backwards for the patients]

Author

Eva, Stormorken

Subjects
Psychotherapy, Evidence-Based Medicine, Fatigue Syndrome, Chronic, Treatment Outcome, Behavior Therapy, Humans
Published
2006

205. [Handling of hereditary intestinal cancer]

Author

Pål, Møller, Astrid, Stormorken, and Jaran, Apold

Subjects
Primary Prevention, Consensus, Genetic Techniques, Norway, Practice Guidelines as Topic, Humans, Genetic Predisposition to Disease, Colonoscopy, Genetic Testing, Colorectal Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, Referral and Consultation
Abstract

Norwegian health care for persons at risk for inherited colorectal cancer is regulated by national legislation on the use of predictive genetic testing and conforms with the international guidelines. This paper from the Norwegian Group on Inherited Cancer, is a consensus between all medical genetic institutions in Norway who handle hereditary colorectal cancer. The recommendations take locally available technology and health care resources into account and are realistic with regard to what can be done within the structure of the Norwegian health service. It gives an update of known genetic syndromes, including colorectal cancer, and indications for remitting patients to genetic examinations. The medical health care is detailed for each genetic group and includes prophylactic surgery and follow-up aimed at early diagnosis and treatment according to international standards. Genetic examinations include a thorough family history verified by medical files for all affected relatives, and comprehensive genetic testing for known syndromes in question. For hereditary colon cancer syndrome (HNPCC), the approach is to screen one tumour in a family member who is an obligate carrier with immunohistochemistry for lack of mismatch gene products, and --if found--proceed to full mutation analysis of the corresponding gene. The clinical geneticists are responsible for coordinating health services to those in need. They also have an obligation to collaborate to present the empirical results of the interventions made.

Published
2006

206. [Untitled]

Author

Jennifer Biber, Aparna Roy, and Anne Stormorken

Subjects
Procedural Pain, Clinical Practice, medicine.medical_specialty, CpG site, business.industry, Medicine, Critical Care and Intensive Care Medicine, business, Intensive care medicine
Published
2014

207. Discussion

Author

Stormorken, H., primary, Thomson, J., additional, Loeliger, E. A., additional, and Owren, P. A., additional

Published
1969
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208. Estimated prevalence of hereditary cancers and the need for surveillance in a Norwegian county, Telemark

Author

Inger Marie Bowitz-Lothe, Eldbjørg Hanslien, Astrid Stormorken, Eli Marie Grindedal, Geir Hoff, Jarle Norstein, and Pål Møller

Subjects
Male, medicine.medical_specialty, Pathology, Colorectal cancer, Pedigree chart, Breast Neoplasms, Norwegian, Neoplasms, Epidemiology, Prevalence, Medicine, Humans, Mass Screening, Family history, Adaptor Proteins, Signal Transducing, Ovarian Neoplasms, business.industry, Norway, Gastroenterology, Inherited cancer syndrome, Cancer, Nuclear Proteins, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, language.human_language, MutS Homolog 2 Protein, Family medicine, Population Surveillance, Mutation, language, Hereditary Cancer, Female, business, Carrier Proteins, MutL Protein Homolog 1
Abstract

The aim of the study was to estimate the prevalence of hereditary cancers and the need for surveillance in Telemark county, Norway.All persons attending the Norwegian Colorectal Cancer Prevention (NORCCAP) trial in Telemark were interviewed about cases of cancer in the family. Diagnoses were verified, pedigrees constructed and families classified according to preset criteria aiming at identifying hereditary cancer. Mutation analyses were performed in kindreds at risk for breast cancers when possible. Immunohistochemistry of tumors in assumed inherited colorectal cancer families was undertaken.The screening examination was attended by 7,224 persons among whom 2,866 had cancer in the family. Of these, 2,479 had no suspicion of any known inherited cancer syndrome. Family information questionnaires were mailed to 387 persons and returned by 191. Sixty-four of these 191 met the clinical criteria for familial cancer by family history after verification of diagnoses. Observed prevalences for being at risk for hereditary breast and breast-ovarian cancer (HBOC) or hereditary non-polyposis colorectal cancer (HNPCC) were 2.8 per thousand and 0.77 per thousand, respectively.The number of colonoscopies and mammograms obtained per year serving those who needed them was limited and reduced by clinical genetic work-up from 2,866 with a family history of cancer to 64 proven cases. Continued surveillance of an unnecessarily high number leads to unjustified cancer worry, is costly and uses up health-care facilities. Genetic work-up is a one-time job that reduces input numbers to surveillance programs, provides a starting-point for mutation testing and is economically cost beneficial if inherited cancers are prevented or cured by the health-care programs offered.

Published
2005

209. [Paul A. Owren--a 100 years' anniversary]

Author

Helge, Stormorken and Paul A, Owren

Subjects
Norway, Physicians, Anticoagulants, Humans, Hematology, History, 20th Century, Blood Coagulation Factors
Published
2005

210. Quality of life and its relation to cancer-related stress in women of families with hereditary cancer without demonstrated mutation

Author

Alv A. Dahl, Amy Østertun Geirdal, Pål Møller, Lovise Mæhle, Ketil Heimdal, and Astrid Stormorken

Subjects
Adult, medicine.medical_specialty, Short form 12, medicine.disease_cause, Mental distress, Quality of life, Internal medicine, Neoplasms, Surveys and Questionnaires, Medicine, Humans, Genetic Predisposition to Disease, Psychiatry, Mutation, business.industry, Norway, Public health, Public Health, Environmental and Occupational Health, Cancer, Middle Aged, medicine.disease, humanities, Distress, Quality of Life, Female, Familial Cancer, business, Stress, Psychological
Abstract

Background: Although quality of life (QoL) and mental distress in women belonging to familial cancer families have been studied, little is known on these matters in women with absence of demonstrated mutations. The aim of this study was to examine QoL and cancer-related distress in such women. Methods: About 330 women at risk for familial cancers in the absence of demonstrated mutations were invited to the study. About 239 women (72%) (risk group) completed the Short Form 12 (SF-12) and the Impact of Event Scale (IES). The SF-12-findings were compared to the age-adjusted findings from the general female population (controls). Results: The risk group had significantly better physical QoL than controls, while no significant difference was found for mental QoL. Within the risk group the type of familial cancer did not make a significant difference in QoL, but to have a father with cancer or a deceased parent, was associated with increased risk of being a case with low QoL. Mental QoL showed moderate correlation with cancer-related distress. Conclusions: : Women belonging to familial cancer families in the absence of demonstrated mutations had at least as good QoL as controls in spite of living with a permanent cancer-related threat.

Published
2005

211. [Frequent urination--an important diagnostic marker in fibromyalgia]

Author

Helge, Stormorken and Frank, Brosstad

Subjects
Adult, Male, Fibromyalgia, Surveys and Questionnaires, Humans, Urination, Female, Middle Aged, Urination Disorders
Abstract

Detailed studies of a family with a strong clustering of fibromyalgia revealed that the affected members had eight or more urinations per day and at least one per night. As this feature was not known to be an important symptom in this ailment, we carried out a questionnaire-based study.Questionnaires were mailed to a random group of 285 subjects drawn from the member list of the Norwegian Fibromyalgia Association, and to 160 healthy females, free of urinary tract pains. Response rates were 70% and 74%.The fibromyalgia group reported 8 or more daily and 1 permanent nocturnal urinations; the corresponding figures for healthy females were 6 and 0.2. This corresponds to a sensitivity and specificity for fibromyalgia of 78 and 91% for daytime urinations, and to 89% and 92% for one or more permanent nocturia.The study indicates that an abnormally high frequency of urinations is a characteristic feature in fibromyalgia and a useful diagnostic variable. It is also objectively verifiable by urodynamic investigation. The pattern is that of urge, sometimes with incontinence.

Published
2005

212. Lokal teaterkultur - en samfunnsendrer : Teaterdialog som en samfunnsendrende metode i utviklingsarbeid i Afrika

Author

Stormorken, Jørunn Sofie Gjedrem

Abstract

Kan teater som metode brukes til å skape forandring i samfunnet? Hva innebærer det å fokusere på teater som samfunnsendrende? Gjennom å diskutere sammenhengen mellom kultur og utvikling ut fra en forståelse av teater som en del av en pre kolonial kulturell tradisjon i Afrika, går jeg inn i teaterpraksisen Theatre for development . Theatre for development er en involverende, deltagende metode som bygger på Paulo Freire og Augusto Boals teori og praksis. Jeg diskuterer denne teaterpraksisens metode og betydning hovedsaklig på den kenyanske landsbygda. Utgangspunktet mitt er en forforståelse innenfor områdene utvikling, utdanning og teater. Utviklingsperspektivet tar utgangspunkt i begrepet empowerment og dets betydning for måten å drive utviklingsarbeid på, mens det innenfor utdanningsperspektivet er Paulo Freires frigjøringspedagogikk som er sentral. Teaterperspektivet belyses ut fra Richard Schechners forståelse av teater som ritual. I tillegg definerer jeg et utvidet teaterbegrep som det eksisterende teaterbegrep i afrikanske samfunn. Et viktig fokus i oppgaven er hvordan teateret kan fungere som dialog, og hvordan dialogen som begrep er vesentlig innenfor ulike nivå, blant annet innenfor både utviklings-, utdannings- og teaterperspektivet. Det teoretiske perspektivet diskuterer metoden Theatre for development ved bruk av teoriene til Freire, Augusto Boal og Gregory Bateson. Freires frigjørende pedagogikk belyser et politisk nivå, og Boals metode, forumspill , med fokus på begrepet spect actor , danner grunnlaget for handlingsnivået og metodikken i den performative hendelsen. Batesons begrep play anvendes som analyseredskap i forhold til selve iscenesettelsen av Theatre for development . Batesons teori benyttes også i analysen av kommunikasjonsprosessen som metakommunikasjon og hva det innebærer for forståelsen og analysen av teaterpraksisen.

Published
2005

213. Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations

Author

Jon Gerhard Reichelt, Astrid Stormorken, Pål Møller, Alv A. Dahl, Lovise Maehle, Amy Østertun Geirdal, and Ketil Heimdal

Subjects
Adult, Cancer Research, medicine.medical_specialty, Genetic counseling, Genes, BRCA1, Breast Neoplasms, Genetic Counseling, Anxiety, Hospital Anxiety and Depression Scale, Risk Factors, Internal medicine, Epidemiology, Genetics, Medicine, Humans, Genetic Predisposition to Disease, Psychiatry, Genetics (clinical), Depression (differential diagnoses), Germ-Line Mutation, Genetic testing, Ovarian Neoplasms, Psychiatric Status Rating Scales, medicine.diagnostic_test, business.industry, Depression, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Cross-Sectional Studies, Oncology, Case-Control Studies, Beck Hopelessness Scale, Female, medicine.symptom, General Health Questionnaire, business, Stress, Psychological
Abstract

Aim: To examine psychological distress in women at risk of familial breast–ovarian cancer (FBOC) or hereditary non-polyposis colorectal cancer (HNPCC) with absence of demonstrated mutations in the family (unknown mutation).Materials and methods: Two-hundred and fifty three consecutive women at risk of FBOC and 77 at risk of HNPCC and with no present or past history of cancer. They were aware of their risk and had received genetic counseling. Comparisons were made between these two groups, normal controls, and women who were identified to be BRCA1 mutation carriers. The questionnaires Beck Hopelessness Scale (BHS), General Health Questionnaire (GHQ-28), Hospital Anxiety and Depression Scale (HADS) and Impact of Event Scale (IES) were employed to assess psychological distress.Results: No significant differences concerning psychological distress were observed between women with FBOC and women with HNPCC. Compared to mutation carriers for BRCA1, the level of anxiety and depression was significantly higher in the FBOC group with absence of demonstrated mutation. Compared to normal controls, the level of anxiety was higher, while the level of depression was lower in the groups with unknown mutation.Conclusions: Women in the absence of demonstrated mutations have higher anxiety and depression levels than women with known mutation-carrier status. Access to genetic testing may be of psychologically benefit to women at risk for FBOC or HNPCC.

Published
2004

216. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

Author

Maurizio Genuardi, Marjo van Puijenbroek, Astrid Stormorken, Hans Morreau, Hanne Meijers-Heijboer, Riccardo Fodde, Lodewijk A. Sandkuijl, Pål Møller, Hans F. A. Vasen, Paul Verkuijlen, Anja Wagner, Anneke M. van Mil, Carli M. J. Tops, Fred H. Menko, Gemma G. Kenter, Yvonne M.C. Hendriks, Juul T. Wijnen, Martijn H. Breuning, Franz Quehenberger, A H J T Bröcker-Vriends, Gita B Tan, Hans C. van Houwelingen, Other departments, Human Genetics, Clinical Genetics, and Epidemiology

Subjects
EXPRESSION, Oncology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, MICROSATELLITE INSTABILITY, Colorectal cancer, HNPCC, Settore MED/03 - GENETICA MEDICA, MLH1, FAMILIES, Germline mutation, SDG 3 - Good Health and Well-being, ENDOMETRIAL CARCINOMA, Internal medicine, medicine, MISMATCH REPAIR GENES, COLON-CANCER, GERMLINE MUTATIONS, TUMORS, HMSH2, neoplasms, Hepatology, business.industry, Endometrial cancer, Gastroenterology, Cancer, Microsatellite instability, nutritional and metabolic diseases, medicine.disease, digestive system diseases, MSH6, Mutation (genetic algorithm), business
Abstract

Background & Aims: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is caused by a mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative risk of developing cancer in a large series of MSH6 mutation carriers. Methods: Mutation analysis was performed in 20 families with a germline mutation in MSH6. We compared the cancer risks between MSH6 and MLH1/MSH2 mutation carriers. Microsatellite instability (MSI) analysis and immunohistochemistry (IHC) were performed in the available tumors. Results: A total of 146 MSH6 mutation carriers were identified. In these carriers, the cumulative risk for colorectal carcinoma was 69% for men, 30% for women, and 71% for endometrial carcinoma at 70 years of age. The risk for all HNPCC-related tumors was significantly lower in MSH6 than in MLH1 or MSH2 mutation carriers (P = 0.002). In female MSH6 mutation carriers, the risk for colorectal cancer was significantly lower (P = 0.0049) and the risk for endometrial cancer significantly higher (P = 0.02) than in MLH1 and MSH2 mutation carriers. In male carriers, the risk for colorectal cancer was lower in MSH6 mutation carriers, but the difference was not significant (P = 0.0854). MSI analysis in colorectal tumors had a sensitivity of 86% in predicting a MMR defect. IHC in all tumors had a sensitivity of 90% in predicting a mutation in MSH6. Conclusions: We recommend starting colonoscopic surveillance in female MSH6 mutation carriers from age 30 years. Prophylactic hysterectomy might be considered in carriers older than 50 years. MSI and IHC analysis are sensitive tools to identify families eligible for MSH6 mutation analysis.

Published
2004

218. A novel gene mutation in the 60s loop of human coagulation factor VII - inhibition of interdomain crosstalk

Author

Mette Husbyn, Helge Stormorken, Anita Kavlie, Hans Prydz, and Merete Thune Wiiger

Subjects
Models, Molecular, Time Factors, Mutant, Restriction Mapping, Polymerase Chain Reaction, law.invention, chemistry.chemical_compound, law, Mutant protein, Cricetinae, Peptide sequence, Polymorphism, Single-Stranded Conformational, Protein Synthesis Inhibitors, Enzyme Precursors, Factor VII, Chinese hamster ovary cell, Factor X, Circular Dichroism, Serine Endopeptidases, Antibodies, Monoclonal, Brain, Hematology, Exons, Recombinant Proteins, Factor Xa, Recombinant DNA, Electrophoresis, Polyacrylamide Gel, Protein Binding, Heterozygote, CHO Cells, Biology, Cysteine Proteinase Inhibitors, Transfection, Tissue factor, Inhibitory Concentration 50, Animals, Humans, Brefeldin A, Polymorphism, Genetic, Dose-Response Relationship, Drug, Sequence Analysis, DNA, Surface Plasmon Resonance, Molecular biology, Precipitin Tests, Acetylcysteine, Protein Structure, Tertiary, Kinetics, chemistry, Mutation, Peptides
Abstract

SummaryA novel mutation in the factor VII gene resulting in procoagulant activity of 7.5% and antigen levels of 23% is presented. Single-stranded conformational polymorphism and DNA sequencing analysis revealed heterozygous shifts, and mutations were detected in exons 5, 7 and 8. The mutant L204P in exon 7 was novel, while the common polymorphisms, H115H and R353Q, were located in exons 5 and 8, respectively.The molecular effect of the L204P mutation was characterized using recombinant mammalian expression in Chinese hamster ovary cells. Low levels (4 ng/ml) of secreted mutant protein were found in transiently transfected cells compared to wild-type factor VII (83 ng/ml). Metabolic labeling demonstrated that the rate of mutant protein synthesis was similar to that of wild-type FVII, and the mutant protein accumulated intracellularly with no signs of increased degradation during a four-hour chase. No interaction between secreted P204 protein and immobilized soluble tissue factor was detected using surface plasmon resonance. The activation rate of recombinant mutant FVII protein was strongly reduced compared to wild-type FVII. A 9-fold reduction in the rate of FX activation was detected whereas Km was nearly the same for wild-type and the mutant. This slow rate was caused by a correspondingly lowered rate of P204 activation. A synthetic peptide sequence comprising amino acids 177−206 blocked binding of FVIIa to the TF-chip, and the subsequent factor X activation with an IC50 value of 0.5 μM in a chromogenic factor Xa assay. Additionally, evaluation of the peptide by surface plasmon resonance analysis resulted in inhibition of complex formation with an apparent Ki of 7 μM.

Published
2003

219. The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours

Author

Astrid T, Stormorken, Wolfram, Müller, Annika, Lindblom, Ketil, Heimdal, Steinar, Aase, Inger Marie Bowitz, Lothe, Tove, Norèn, Juul T, Wijnen, Gabriela, Möslein, and Pål, Møller

Subjects
Adenosine Triphosphatases, Adult, Aged, 80 and over, Male, DNA Repair, Base Pair Mismatch, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, Pedigree, DNA-Binding Proteins, MutS Homolog 2 Protein, Proto-Oncogene Proteins, Humans, Female, Codon, Frameshift Mutation, Germ-Line Mutation, Aged
Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) may be caused by germline truncating mutations in DNA mismatch repair (MMR) genes. Whether or not missense or inframe mutations are disease-associated has become a practical clinical problem, because predictive genetic testing is employed to select high-risk persons for clinical examinations. Clinical examinations may reveal polyps to be removed and prevent cancer. One large kindred applying for health care had a N596del mutation in the MSH2 gene. The aim of this study was to determine whether or not the inframe mutation in this family was associated with disease, and to examine the tumours for presence of the MSH2 protein by immunohistochemistry. We demonstrated that the mutation was linked to disease with lod score 5.7 in the family, and all examined, but one manifest cancer, lacked the MSH2 protein.

Published
2003

220. Prediction of the outcome of genetic testing in HNPCC kindreds using the revised Amsterdam criteria and immunohistochemistry

Author

A T, Stormorken, W, Müller, B, Lemkemeyer, J, Apold, J T, Wijnen, R, Fodde, G, Möslein, and P, Møller

Subjects
Adenoma, Adult, Male, DNA Repair, Base Pair Mismatch, Nuclear Proteins, DNA, Neoplasm, Adenocarcinoma, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Sensitivity and Specificity, Neoplasm Proteins, DNA-Binding Proteins, Immunoenzyme Techniques, MutS Homolog 2 Protein, Predictive Value of Tests, Proto-Oncogene Proteins, Humans, Female, Genetic Testing, Carrier Proteins, MutL Protein Homolog 1, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Netherlands
Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) may be caused by mutations in the mismatch repair (MMR) genes MLH1, MSH2 or MSH6. Family history (Amsterdam criteria) has traditionally been used to select patients for mutation testing. It has been demonstrated that germline mutations in the MMR genes are associated with lack of the corresponding gene product as assessed with immunohistochemistry (IHC) in tumour specimens. The aim of the study was to assess the value of the Amsterdam criteria II and IHC in predicting germline mutations.Fifty-six families that were previously tested for MLH1, MSH2 and MSH6 mutations were selected for this study. All pedigrees were extended and verified and the families were scored according to the original (I) and the revised Amsterdam criteria (II). The probabilities for MLH1 and MSH2 mutations were calculated by logistic regression. In addition, all available tumour material from indexed family members was examined by IHC for the presence of the three gene products.Three out of seven (39%) families where the mutation could be identified complied with the Amsterdam criteria I, while all seven (100%) met the Amsterdam criteria II. All families carrying a MLH1 or MSH2 mutation had15% calculated probability of finding a mutation. Tumours from all seven mutation carriers lacked the immunohistochemical expression of the corresponding MMR gene.The results indicate that the Amsterdam criteria II in combination with immunohistochemistry of the mismatch repair proteins in tumours may be a cost-effective approach to select families for mutation analysis.

Published
2003

221. [Stormorken's syndrome]

Author

Helge, Stormorken

Subjects
Adult, Male, Hemostasis, Muscle Weakness, Hemorrhage, Syndrome, Middle Aged, Miosis, Thrombocytopenia, Pedigree, Dyslexia, Child, Preschool, Humans, Female, Spleen, Aged, Myopathies, Structural, Congenital
Abstract

In 1985, a new syndrome with the following characteristics was described: thrombopathia, thrombopenia, asplenia, miosis, headache, ichthyosis, dyslexia, muscle defect, and subsequently also hypocalcaemia. Skin and deep bleedings, leg spasms, disturbed dark vision and dyslexia are main worries. This paper describes these patients with a review of the investigations performed. Causes of the bleeding tendency are complex disturbances of the platelet membrane causing insufficient stability of the haemostatic plug, the nature of which is unresolved, but involves membrane scrambling. The muscle defect consists in tubular aggregates and high blood values of creatine kinase. A connection with the hypocalcaemia is possible, because increasing the ionic Ca with calcitriol significantly improves muscle function. Miosis is resistant to mydriatics and causes decreased dark vision, possibly also influencing dyslexia. The asplenia has little influence on immunocompetence, and the patients have survived 300 patient years without critical infections. The gene defect has not yet been unravelled.

Published
2003

223. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

Author

Vasen, H.F., Blanco, I., Aktan-Collan, K., Gopie, J.P., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I.M., Genuardi, M., Heinimann, K., Hes, F.J., Hodgson, S.V., Karagiannis, J.A., Lalloo, F., Lindblom, A., Mecklin, J.P., Moller, P., Myrhoj, T., Nagengast, F.M., Parc, Y., Leon, M., Renkonen-Sinisalo, L., Sampson, J.R., Stormorken, A., Sijmons, R.H., Tejpar, S., Thomas, H.J., Rahner, N., Wijnen, J.T., Jarvinen, H.J., Moslein, G., et al., Vasen, H.F., Blanco, I., Aktan-Collan, K., Gopie, J.P., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I.M., Genuardi, M., Heinimann, K., Hes, F.J., Hodgson, S.V., Karagiannis, J.A., Lalloo, F., Lindblom, A., Mecklin, J.P., Moller, P., Myrhoj, T., Nagengast, F.M., Parc, Y., Leon, M., Renkonen-Sinisalo, L., Sampson, J.R., Stormorken, A., Sijmons, R.H., Tejpar, S., Thomas, H.J., Rahner, N., Wijnen, J.T., Jarvinen, H.J., Moslein, G., and et al.

Abstract

Item does not contain fulltext, Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines for the clinical management of LS. Since then substantial new information has become available necessitating an update of the guidelines. In 2011 and 2012 workshops were organised in Palma de Mallorca. A total of 35 specialists from 13 countries participated in the meetings. The first step was to formulate important clinical questions. Then a systematic literature search was performed using the Pubmed database and manual searches of relevant articles. During the workshops the outcome of the literature search was discussed in detail. The guidelines described in this paper may be helpful for the appropriate management of families with LS. Prospective controlled studies should be undertaken to improve further the care of these families.

Published
2013

224. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Author

Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. (A.), Lázaro, C. (Conxi), Brunet, J. (Joan), Pujana, M.A. (Miguel), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Narod, S. (Steven), Herzog, J. (Josef), Sand, S.R. (Sharon), Tognazzo, S. (Silvia), Agata, S. (Simona), Vaszko, T. (Tibor), Weaver, J. (JoEllen), Stavropoulou, A. (Alexandra), Buys, S.S. (Saundra), Romero, A. (Alfonso), Hoya, M. (Miguel) de La, Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Durán, M. (Mercedes), Chung, W.K. (Wendy), Lasa, A. (Adriana), Dorfling, C.M. (Cecelia), Miron, A. (Alexander), Benítez, J. (Javier), Senter, L. (Leigha), Huo, D. (Dezheng), Chan, S. (Salina), Sokolenko, A. (Anna), Chiquette, J. (Jocelyne), Tihomirova, L. (Laima), Friebel, M.O.W. (Mark ), Agnarsson, B.A. (Bjarni), Lu, K.H. (Karen), Lejbkowicz, F. (Flavio), James, P.A. (Paul ), Hall, A.S. (Alistair), Dunning, A.M. (Alison), Tessier, Y. (Yann), Cunningham, J. (Jane), Slager, S. (Susan), Wang, C. (Chen), Hart, S. (Stewart), Stevens, K. (Kristen), Simard, J. (Jacques), Pastinen, T. (Tomi), Pankratz, V.S. (Shane), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Thorne, H. (Heather), Niedermayr, E. (Eveline), Borg, Å. (Åke), Olsson, H., Jernström, H. (H.), Henriksson, K. (Karin), Harbst, K. (Katja), Soller, M. (Maria), Kristoffersson, U. (Ulf), Wang, X. (Xianshu), Öfverholm, A. (Anna), Nordling, M. (Margareta), Karlsson, P. (Per), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Lindblom, A. (Annika), Bustinza, G.B., Rantala, J. (Johanna), Melin, B. (Beatrice), Ardnor, C.E. (Christina Edwinsdotter), Emanuelsson, M. (Monica), Ehrencrona, H. (Hans), Pigg, M.H. (Maritta ), Liedgren, S. (Sigrun), Rookus, M.A. (M.), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gomez Garcia, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Anna), Kennedy, M.J. (John), Barton, D.E. (David), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Brady, A.F. (Angela), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Lalloo, F. (Fiona), Taylor, J. (James), Male, A. (Alison), Berlin, C. (Cheryl), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Stormorken, A. (Astrid), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Barjhoux, L. (Laure), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Buecher, B. (Bruno), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Handallou, S. (Sandrine), hardouin, A. (Agnès), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Lidereau, R. (Rosette), Demange, L. (Liliane), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Lebrun, M. (Marine), Kientz, C. (Caroline), Ferrer, S.F., Frenay, M. (Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), Dite, G.S. (Gillian), Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. (A.), Lázaro, C. (Conxi), Brunet, J. (Joan), Pujana, M.A. (Miguel), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Narod, S. (Steven), Herzog, J. (Josef), Sand, S.R. (Sharon), Tognazzo, S. (Silvia), Agata, S. (Simona), Vaszko, T. (Tibor), Weaver, J. (JoEllen), Stavropoulou, A. (Alexandra), Buys, S.S. (Saundra), Romero, A. (Alfonso), Hoya, M. (Miguel) de La, Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Durán, M. (Mercedes), Chung, W.K. (Wendy), Lasa, A. (Adriana), Dorfling, C.M. (Cecelia), Miron, A. (Alexander), Benítez, J. (Javier), Senter, L. (Leigha), Huo, D. (Dezheng), Chan, S. (Salina), Sokolenko, A. (Anna), Chiquette, J. (Jocelyne), Tihomirova, L. (Laima), Friebel, M.O.W. (Mark ), Agnarsson, B.A. (Bjarni), Lu, K.H. (Karen), Lejbkowicz, F. (Flavio), James, P.A. (Paul ), Hall, A.S. (Alistair), Dunning, A.M. (Alison), Tessier, Y. (Yann), Cunningham, J. (Jane), Slager, S. (Susan), Wang, C. (Chen), Hart, S. (Stewart), Stevens, K. (Kristen), Simard, J. (Jacques), Pastinen, T. (Tomi), Pankratz, V.S. (Shane), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Thorne, H. (Heather), Niedermayr, E. (Eveline), Borg, Å. (Åke), Olsson, H., Jernström, H. (H.), Henriksson, K. (Karin), Harbst, K. (Katja), Soller, M. (Maria), Kristoffersson, U. (Ulf), Wang, X. (Xianshu), Öfverholm, A. (Anna), Nordling, M. (Margareta), Karlsson, P. (Per), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Lindblom, A. (Annika), Bustinza, G.B., Rantala, J. (Johanna), Melin, B. (Beatrice), Ardnor, C.E. (Christina Edwinsdotter), Emanuelsson, M. (Monica), Ehrencrona, H. (Hans), Pigg, M.H. (Maritta ), Liedgren, S. (Sigrun), Rookus, M.A. (M.), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gomez Garcia, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Anna), Kennedy, M.J. (John), Barton, D.E. (David), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Brady, A.F. (Angela), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Lalloo, F. (Fiona), Taylor, J. (James), Male, A. (Alison), Berlin, C. (Cheryl), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Stormorken, A. (Astrid), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Barjhoux, L. (Laure), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Buecher, B. (Bruno), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Handallou, S. (Sandrine), hardouin, A. (Agnès), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Lidereau, R. (Rosette), Demange, L. (Liliane), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Lebrun, M. (Marine), Kientz, C. (Caroline), Ferrer, S.F., Frenay, M. (Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), and Dite, G.S. (Gillian)

Abstract

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associati

Published
2013
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225. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

Author

Vasen, H. F. A., Blanco, I., Aktan-Collan, K., Gopie, J. P., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I. M., Genuardi, Maurizio, Hes, F. J., Hodgson, S. V., Karagiannis, J. A., Lalloo, F., Lindblom, A., Mecklin, J. -P., Moller, P., Myrhoj, T., Nagengast, F. M., Parc, Y., De Leon, M. P., Renkonen-Sinisalo, L., Sampson, J. R., Stormorken, A., Sijmons, R. H., Tejpar, S., Thomas, H. J. W., Rahner, N., Wijnen, J. T., Jarvinen, H. J., Moslein, G., Maurizio Genuardi. (ORCID:0000-0002-7410-8351), Vasen, H. F. A., Blanco, I., Aktan-Collan, K., Gopie, J. P., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I. M., Genuardi, Maurizio, Hes, F. J., Hodgson, S. V., Karagiannis, J. A., Lalloo, F., Lindblom, A., Mecklin, J. -P., Moller, P., Myrhoj, T., Nagengast, F. M., Parc, Y., De Leon, M. P., Renkonen-Sinisalo, L., Sampson, J. R., Stormorken, A., Sijmons, R. H., Tejpar, S., Thomas, H. J. W., Rahner, N., Wijnen, J. T., Jarvinen, H. J., Moslein, G., and Maurizio Genuardi. (ORCID:0000-0002-7410-8351)

Abstract

Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines for the clinical management of LS. Since then substantial new information has become available necessitating an update of the guidelines. In 2011 and 2012 workshops were organised in Palma de Mallorca. A total of 35 specialists from 13 countries participated in the meetings. The first step was to formulate important clinical questions. Then a systematic literature search was performed using the Pubmed database and manual searches of relevant articles. During the workshops the outcome of the literature search was discussed in detail. The guidelines described in this paper may be helpful for the appropriate management of families with LS. Prospective controlled studies should be undertaken to improve further the care of these families

Published
2013

226. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

Author

Vasen, Hf, Blanco, I, Aktan Collan, K, Gopie, Jp, Alonso, A, Aretz, S, Bernstein, I, Bertario, L, Burn, J, Capella, G, Colas, C, Engel, C, Frayling, Im, Genuardi, Maurizio, Heinimann, K, Hes, Fj, Hodgson, Sv, Karagiannis, Ja, Lalloo, F, Lindblom, A, Mecklin, Jp, Møller, P, Myrhoj, T, Nagengast, Fm, Parc, Y, Ponz De Leon, M, Renkonen Sinisalo, L, Sampson, Jr, Stormorken, A, Sijmons, Rh, Tejpar, S, Thomas, Herbert, Rahner, Wijnen, Jt, Järvinen, Hj, Möslein, G., Genuardi, Maurizio (ORCID:0000-0002-7410-8351), Vasen, Hf, Blanco, I, Aktan Collan, K, Gopie, Jp, Alonso, A, Aretz, S, Bernstein, I, Bertario, L, Burn, J, Capella, G, Colas, C, Engel, C, Frayling, Im, Genuardi, Maurizio, Heinimann, K, Hes, Fj, Hodgson, Sv, Karagiannis, Ja, Lalloo, F, Lindblom, A, Mecklin, Jp, Møller, P, Myrhoj, T, Nagengast, Fm, Parc, Y, Ponz De Leon, M, Renkonen Sinisalo, L, Sampson, Jr, Stormorken, A, Sijmons, Rh, Tejpar, S, Thomas, Herbert, Rahner, Wijnen, Jt, Järvinen, Hj, Möslein, G., and Genuardi, Maurizio (ORCID:0000-0002-7410-8351)

Abstract

Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines for the clinical management of LS. Since then substantial new information has become available necessitating an update of the guidelines. In 2011 and 2012 workshops were organised in Palma de Mallorca. A total of 35 specialists from 13 countries participated in the meetings. The first step was to formulate important clinical questions. Then a systematic literature search was performed using the Pubmed database and manual searches of relevant articles. During the workshops the outcome of the literature search was discussed in detail. The guidelines described in this paper may be helpful for the appropriate management of families with LS. Prospective controlled studies should be undertaken to improve further the care of these families.

Published
2013

228. 855

Author

Biber, Jennifer, primary, Couloures, Kevin, additional, Cravero, Joseph, additional, Gallagher, Susan, additional, Allareddy, Veerajalandhar, additional, Allareddy, Veerasathpurush, additional, Speicher, David, additional, and Stormorken, Anne, additional

Published
2013
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230. [Untitled]

Author

Jennifer Biber, Kevin Couloures, Anne Stormorken, Susan M. Gallagher, Veerajalandhar Allareddy, Veerasathpurush Allareddy, Joseph P. Cravero, and David Speicher

Subjects
medicine.diagnostic_test, business.industry, Sedation, Anesthesia, medicine, Colonoscopy, medicine.symptom, Critical Care and Intensive Care Medicine, Adverse effect, business
Published
2013

231. Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia

Author

A P, Fellowes, S O, Brennan, R, Holme, H, Stormorken, F R, Brosstad, and P M, George

Subjects
Adult, Factor VIII, Homozygote, Mutation, von Willebrand Factor, Fibrinogen, Humans, Female, Hemorrhage, Sequence Analysis, DNA, Afibrinogenemia, Polymerase Chain Reaction, Pedigree
Abstract

The molecular basis of a novel congenital afibrinogenemia has been determined. The proposita, the only affected member in a consanguineous Norwegian family, suffers from a moderate to severe bleeding disorder due to the total absence of any detectable fibrinogen. Dot blots of solubilized platelets revealed a small amount of gamma chain but no A alpha or B beta chains, whereas no chains were detected in plasma dot blots. DNA sequencing of the A alpha chain gene revealed a homozygous C--T transversion 557 nucleotides from the transcription initiation site. This nucleotide change predicts the nonsense mutation A alpha 149 Arg (CGA)--stop (TGA). Early truncation of the A alpha chain appears to result in defective assembly or secretion of fibrinogen, probably due to the removal of the C-terminal disulfide ring residues that are critically required for the formation of a stable 3-chained half molecule. (Blood. 2000;96:773-775)

Published
2000

232. [Hereditary colorectal cancer]

Author

At, Stormorken, Apold J, Ketil Heimdal, and Møller P

Subjects
Adenomatous Polyposis Coli, Norway, Rectal Neoplasms, Risk Factors, Colonic Neoplasms, Mutation, Humans, Genetic Predisposition to Disease
Abstract

About 13% of all colorectal cancer may be dominantly inherited. This amounts to about 300 new cases a year in Norway. Colorectal cancer can be cured by early diagnosis and treatment. Coloscopy with polypectomy may prevent infiltrating cancer. Affected families should be offered genetic evaluation, and family members subjected to regular colonoscopy. The genetic bases of five colorectal cancer syndromes, accounting for most cases of hereditary early onset colorectal cancer, have now been determined. These are familial adenomatous polyposis, colon-endometrial cancer (hereditary non-polyposis colon cancer), Cowden's syndrome, Peutz-Jegher's syndrome and juvenile polyposis. These account for at most 3% of all colorectal cancers. In this group, predictive genetic testing may be employed in families with known mutation. Demonstration of mutation carriers by predictive testing must be based on health service available to the persons at risk. With regard to prophylactic measures, experimental and epidemiological data suggest a preventive effect of aspirin and resistant starch. Empirical information on the effect of intervention is insufficient; multicentre studies are needed.

Published
1999

233. [The 'diffuse' health problems of women]

Author

H, Stormorken and F, Brosstad

Subjects
Fibromyalgia, Back Pain, Surveys and Questionnaires, Humans, Women's Health, Female, Musculoskeletal Diseases
Published
1999

234. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe.

Author

Vasen, H.F., Moslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I., Rahner, N., Hes, F.J., Hodgson, S., Mecklin, J.P., Moller, P., Myrhoj, T., Nagengast, F.M., Parc, Y., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, J.R., Stormorken, A., Tejpar, S., Thomas, H.J., Wijnen, J., Lubinski, J., Jarvinen, H., Claes, E., Heinimann, K., Karagiannis, J.A., Lindblom, A., Dove-Edwin, I., Muller, H., Vasen, H.F., Moslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I., Rahner, N., Hes, F.J., Hodgson, S., Mecklin, J.P., Moller, P., Myrhoj, T., Nagengast, F.M., Parc, Y., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, J.R., Stormorken, A., Tejpar, S., Thomas, H.J., Wijnen, J., Lubinski, J., Jarvinen, H., Claes, E., Heinimann, K., Karagiannis, J.A., Lindblom, A., Dove-Edwin, I., and Muller, H.

Abstract

1 juni 2010, Item does not contain fulltext, Familial colorectal cancer (CRC) accounts for 10-15% of all CRCs. In about 5% of all cases, CRC is associated with a highly penetrant dominant inherited syndrome. The most common inherited form of non-polyposis CRC is the Lynch syndrome which is responsible for about 2-4% of all cases. Surveillance of individuals at high risk for CRC prevents the development of advanced CRC. About 1 million individuals in Western Europe are at risk for Lynch syndrome. We performed a survey to evaluate the strategies currently used to identify individuals at high risk for CRC in 14 Western European countries. Questionnaires were distributed amongst members of a European collaborative group of experts that aims to improve the prognosis of families with hereditary CRC. The survey showed that in all countries obtaining a family history followed by referral to clinical genetics centres of suspected cases was the main strategy to identify familial and hereditary CRC. In five out of seven countries with a (regional or national) CRC population screening program, attention was paid in the program to the detection of familial CRC. In only one country were special campaigns organized to increase the awareness of familial CRC among the general population. In almost all countries, the family history is assessed when a patient visits a general practitioner or hospital. However, the quality of family history taking was felt to be rather poor. Microsatellite instability testing (MSI) or immunohistochemical analysis (IHC) of CRC are usually recommended as tools to select high-risk patients for genetic testing and are performed in most countries in patients suspected of Lynch syndrome. In one country, IHC was recommended in all new cases of CRC. In most countries there are no specific programs on cancer genetics in the teaching curriculum for medical doctors. In conclusion, the outcome of this survey and the discussions within an European expert group may be used to improve the strategies to identify

Published
2010

235. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe

Author

Vasen, H F A, Möslein, G, Alonso, A, Aretz, S, Bernstein, I, Bertario, L, Blanco, I, Bulow, S, Burn, J, Capella, G, Colas, C, Engel, C, Frayling, I, Rahner, N, Hes, F J, Hodgson, S, Mecklin, J-P, Møller, P, Myrhøj, T, Nagengast, F M, Parc, Y, Ponz de Leon, M, Renkonen-Sinisalo, L, Sampson, J R, Stormorken, A, Tejpar, S, Thomas, H J W, Wijnen, J, Lubinski, J, Järvinen, H, Claes, E, Heinimann, K, Karagiannis, J A, Lindblom, A, Dove-Edwin, I, Müller, H, Vasen, H F A, Möslein, G, Alonso, A, Aretz, S, Bernstein, I, Bertario, L, Blanco, I, Bulow, S, Burn, J, Capella, G, Colas, C, Engel, C, Frayling, I, Rahner, N, Hes, F J, Hodgson, S, Mecklin, J-P, Møller, P, Myrhøj, T, Nagengast, F M, Parc, Y, Ponz de Leon, M, Renkonen-Sinisalo, L, Sampson, J R, Stormorken, A, Tejpar, S, Thomas, H J W, Wijnen, J, Lubinski, J, Järvinen, H, Claes, E, Heinimann, K, Karagiannis, J A, Lindblom, A, Dove-Edwin, I, and Müller, H

Abstract

Udgivelsesdato: 2010-Jun, Familial colorectal cancer (CRC) accounts for 10-15% of all CRCs. In about 5% of all cases, CRC is associated with a highly penetrant dominant inherited syndrome. The most common inherited form of non-polyposis CRC is the Lynch syndrome which is responsible for about 2-4% of all cases. Surveillance of individuals at high risk for CRC prevents the development of advanced CRC. About 1 million individuals in Western Europe are at risk for Lynch syndrome. We performed a survey to evaluate the strategies currently used to identify individuals at high risk for CRC in 14 Western European countries. Questionnaires were distributed amongst members of a European collaborative group of experts that aims to improve the prognosis of families with hereditary CRC. The survey showed that in all countries obtaining a family history followed by referral to clinical genetics centres of suspected cases was the main strategy to identify familial and hereditary CRC. In five out of seven countries with a (regional or national) CRC population screening program, attention was paid in the program to the detection of familial CRC. In only one country were special campaigns organized to increase the awareness of familial CRC among the general population. In almost all countries, the family history is assessed when a patient visits a general practitioner or hospital. However, the quality of family history taking was felt to be rather poor. Microsatellite instability testing (MSI) or immunohistochemical analysis (IHC) of CRC are usually recommended as tools to select high-risk patients for genetic testing and are performed in most countries in patients suspected of Lynch syndrome. In one country, IHC was recommended in all new cases of CRC. In most countries there are no specific programs on cancer genetics in the teaching curriculum for medical doctors. In conclusion, the outcome of this survey and the discussions within an European expert group may be used to improve the strategies to identify

Published
2010

237. Iohexol, platelet activation and thrombosis. I. Iohexol-induced platelet secretion does not affect thrombus formation in native blood

Author

R. M. Barstad, Helge Stormorken, Kjell S. Sakariassen, and M. J. A. G. Hamers

Subjects
Blood Platelets, Male, Pathology, medicine.medical_specialty, Iohexol, Contrast Media, Blood Donors, In Vitro Techniques, chemistry.chemical_compound, Internal medicine, Triiodobenzoic Acids, medicine, Ioxaglic Acid, Humans, Radiology, Nuclear Medicine and imaging, Platelet activation, Thrombus, Radiological and Ultrasound Technology, Platelet-activating factor, Dose-Response Relationship, Drug, business.industry, Thrombosis, General Medicine, medicine.disease, Platelet Activation, beta-Thromboglobulin, Iodixanol, medicine.anatomical_structure, Endocrinology, chemistry, Collagen, business, Ex vivo, medicine.drug, Artery
Abstract

Background: The nonionic monomer iohexol triggers in vitro platelet secretion of β-thromboglobulin (β-TG). This iohexol platelet activation may promote intravascular thrombosis. We studied this relationship by employing a human model of collagen-induced platelet thrombus formation at arterial flow. The ionic dimer ioxaglate, the nonionic dimer iodixanol, and glucose were included. Methods and Results: In vitro platelet activation as measured by β-TG secretion following a 1-min incubation of native blood with 50 vol% of iohexol was significant. Glucose solutions of 300, 580 and 825 mosmol, corresponding to the osmolalities of respectively iodixanol, ioxaglate and iohexol, increased the β-TG secretion in parallel with the osmolalities. Ioxaglate and iodixanol were virtually inert. Continuous infusion of iohexol or 580 or 825 mosmol glucose (40 vol%) into flowing native blood at an arterial wall shear rate of 2600 s−1 in an ex vivo collagen-induced platelet thrombus formation device triggered pronounced secretion of β-TG. However, the platelet thrombus formation in blood mixed with iohexol was within the same range as that observed with ioxaglate or iodixanol. Increasing glucose osmolality induced increasing β-TG secretion, which paralleled gradually decreasing platelet thrombus formation. Conclusion: Iohexol and 580 or 825 mosmol glucose trigger platelet secretion of β-TG. This secretion is not associated with enhanced collagen-induced platelet thrombus formation at high arterial shear.

Published
1998

238. Iohexol, platelet activation and thrombosis. II. Iohexol-induced platelet secretion does not affect collagen-induced or tissue-factor-induced thrombus formation in blood that is anticoagulated with heparin and aspirin

Author

M. J. A. G. Hamers, M. Buchmann, Helge Stormorken, and Kjell S. Sakariassen

Subjects
Blood Platelets, Male, medicine.medical_specialty, Radiographic contrast media, Iohexol, Contrast Media, Pharmacology, In Vitro Techniques, Thromboplastin, Tissue factor, Triiodobenzoic Acids, medicine, Ioxaglic Acid, Humans, Radiology, Nuclear Medicine and imaging, Platelet, Drug Interactions, Platelet activation, Thrombus, Radiological and Ultrasound Technology, Aspirin, business.industry, Heparin, Anticoagulants, Thrombosis, General Medicine, medicine.disease, Platelet Activation, beta-Thromboglobulin, Surgery, Collagen, business, medicine.drug
Abstract

Background: There is a dispute about the potential effects of radiographic contrast media (CM) on thrombogenesis. The nonionic CM iohexol triggers platelet β-thromboglobulin (β-TG) secretion, and thus may activate the platelets and promote thrombosis. We addressed this topic in a study employing a human model of arterial thrombus formation in the presence of aspirin and heparin. This was a follow-up to our initial study (on thrombus formation in native blood) which did not include antithrombotic drugs. The nonionic CM iohexol (monomer) and iodixanol (dimer) and the ionic CM ioxaglate (dimer) were compared. Methods and Results: Thrombus formation was triggered by a surface rich in either collagen or tissue factor, positioned in a parallel-plate perfusion chamber device at an arterial wall shear rate of 2600 s−1. Blood from healthy volunteers, following ingestion of 1 g aspirin, was mixed with 40 vol% CM and 2.0 IU/ml heparin and passed over the surfaces. Thrombus formation in the presence of either CM showed no difference, despite the fact that iohexol triggered a pronounced platelet β-TG secretion; iodixanol or ioxaglate were virtually inert. Conclusion: There was no association between iohexol-induced β-TG secretion and thrombus formation on collagen (platelet-driven) or on tissue factor (thrombin-driven) in the presence of a standard antithrombotic regimen of aspirin and heparin as used in the clinic. The notion of a thrombotic risk due to platelet activation by iohexol was thus not substantiated by this study.

Published
1998

239. Characterization of a factor VII molecule carrying a mutation in the second epidermal growth factor-like domain

Author

Helge Stormorken, Anne Grindflek, Hans Prydz, Lars Örning, and Anita Kavlie

Subjects
Adult, Male, Models, Molecular, Adolescent, Genotype, Factor VII Deficiency, Glutamine, DNA Mutational Analysis, Molecular Sequence Data, CHO Cells, Biology, Transfection, Thromboplastin, Tissue factor, chemistry.chemical_compound, Mutant protein, Epidermal growth factor, Cricetinae, Missense mutation, Animals, Humans, Point Mutation, Amino Acid Sequence, Child, Codon, Alleles, Genetics, Binding Sites, Factor VII, Norway, Factor X, Point mutation, Wild type, Hematology, Middle Aged, Molecular biology, Recombinant Proteins, Protein Structure, Tertiary, Enzyme Activation, chemistry, Child, Preschool, Female, Blood Coagulation Tests
Abstract

SummaryA missense mutation at codon 100 in the second epidermal growth factor-like domain, resulting in Gln100→Arg, was detected in 19 out of 21 available severely factor VII (FVII) deficient patients in Norway. Seventeen patients were homozygous, and the two remaining were compound heterozygotes. In the homozygous patients, FVII antigen was measured to 10-28%, and activity to 0.6-6.5% of that in normal pooled plasma. Recombinant FVII containing the mutation was expressed transiently in CHO cells to a mean antigen level of 57% of the wild type FVII protein, and with a specific activity of 6% of wild type. The mutant protein had a 14-fold reduction in affinity for tissue factor (TF), whereas binding of FX seemed unaffected. In line with the experimental data, molecular modelling of the mutation based on the coordinates of the tissue factor/FVIIa complex showed that substituting arginine for glutamine disrupts the interface between the catalytic and second epidermal growth factor-like domains.

Published
1998

240. Development, Implementation, and Initial Participant Feedback of a Pediatric Sedation Provider Course

Author

Hollman, Gregory A., primary, Banks, David M., additional, Berkenbosch, John W., additional, Boswinkel, Jan P., additional, Eickhoff, Jens C., additional, Fagin, David, additional, Hagen, Scott A., additional, Hales, Roberta L., additional, Houck, Constance S., additional, Kaur, Tashveen, additional, Kost, Susanne, additional, Lowrie, Lia, additional, Nishisaki, Akira, additional, Scherrer, Patricia D., additional, Stephenson, Lianne, additional, Stormorken, Anne, additional, and Cravero, Joseph P., additional

Published
2013
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242. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).

Author

Vasen, H.F., Moslein, G., Alonso, A., Bernstein, I., Bertario, L., Blanco, I., Burn, J., Capella, G., Engel, C., Frayling, I., Friedl, W., Hes, F.J., Hodgson, S., Mecklin, J.P., Moller, P., Nagengast, F.M., Parc, Y., Renkonen-Sinisalo, L., Sampson, J.R., Stormorken, A., Wijnen, J., Vasen, H.F., Moslein, G., Alonso, A., Bernstein, I., Bertario, L., Blanco, I., Burn, J., Capella, G., Engel, C., Frayling, I., Friedl, W., Hes, F.J., Hodgson, S., Mecklin, J.P., Moller, P., Nagengast, F.M., Parc, Y., Renkonen-Sinisalo, L., Sampson, J.R., Stormorken, A., and Wijnen, J.

Abstract

Item does not contain fulltext, Lynch syndrome (hereditary non-polyposis colorectal cancer) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. The discovery of these genes, 15 years ago, has led to the identification of large numbers of affected families. In April 2006, a workshop was organised by a group of European experts in hereditary gastrointestinal cancer (the Mallorca-group), aiming to establish guidelines for the clinical management of Lynch syndrome. 21 experts from nine European countries participated in this workshop. Prior to the meeting, various participants prepared the key management issues of debate according to the latest publications. A systematic literature search using Pubmed and the Cochrane Database of Systematic Reviews reference lists of retrieved articles and manual searches of relevant articles was performed. During the workshop, all recommendations were discussed in detail. Because most of the studies that form the basis for the recommendations were descriptive and/or retrospective in nature, many of them were based on expert opinion. The guidelines described in this manuscript may be helpful for the appropriate management of families with Lynch syndrome. Prospective controlled studies should be undertaken to improve further the care of these families.

Published
2007

243. Hemostatic risk factors in arterial thrombosis and atherosclerosis: the thrombin-fibrin and platelet-vWF axis

Author

Helge Stormorken and Kjell S. Sakariassen

Subjects
Adult, Blood Platelets, Male, medicine.medical_specialty, Arteriosclerosis, Fibrin, Thrombin, Risk Factors, Internal medicine, von Willebrand Factor, medicine, Humans, Platelet, Risk factor, Blood Coagulation, Hemostasis, biology, business.industry, Vascular disease, Thrombosis, Hematology, Middle Aged, medicine.disease, Surgery, medicine.anatomical_structure, biology.protein, Cardiology, business, medicine.drug, Artery
Published
1997

245. 1113

Author

Anderson, Ingrid, primary, Allareddy, Veerajalandhar, additional, Allareddy, Veerasathpurush, additional, Anderson, Michael, additional, and Stormorken, Anne, additional

Published
2012
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246. Awakening agricultural production

Author

Stormorken, Pal Oystein

Subjects
Oslo Bors ASA -- Officials and employees, Securities industry -- Officials and employees, Securities industry, Business, Business, international
Abstract

Headquartered in Oslo, Norway and listed on the Oslo Stock Exchange, Yara is a global fertiliser giant, with operations and offices in more than 50 countries, eight in Africa, and [...]

Published
2014

248. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance

Author

Hendriks, Y, Wagner, A, Morreau, H, Menko, F, Stormorken, A, Quehenberger, F, Sandkuijl, L, Moller, P, Genuardi, Maurizio, Van Houwelingen, H, Tops, C, Van Puijenbroek, M, Verkuijlen, P, Kenter, G, Van Mil, A, Meijers-Heijboer, H, Tan, G, Breuning, M, Fodde, R, Wijnen, J, Brocker-Vriends, A, Vasen, H, Genuardi, M (ORCID:0000-0002-7410-8351), Hendriks, Y, Wagner, A, Morreau, H, Menko, F, Stormorken, A, Quehenberger, F, Sandkuijl, L, Moller, P, Genuardi, Maurizio, Van Houwelingen, H, Tops, C, Van Puijenbroek, M, Verkuijlen, P, Kenter, G, Van Mil, A, Meijers-Heijboer, H, Tan, G, Breuning, M, Fodde, R, Wijnen, J, Brocker-Vriends, A, Vasen, H, and Genuardi, M (ORCID:0000-0002-7410-8351)

Abstract

Background & Aims: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is caused by a mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative risk of developing cancer in a large series of MSH6 mutation carriers. Methods: Mutation analysis was performed in 20 families with a germline mutation in MSH6. We compared the cancer risks between MSH6 and MLH1/MSH2 mutation carriers. Microsatellite instability (MSI) analysis and immunohistochemistry (IHC) were performed in the available tumors. Results: A total of 146 MSH6 mutation carriers were identified. In these carriers, the cumulative risk for colorectal carcinoma was 69% for men, 30% for women, and 71% for endometrial carcinoma at 70 years of age. The risk for all HNPCC-related tumors was significantly lower in MSH6 than in MLH1 or MSH2 mutation carriers (P = 0.002). In female MSH6 mutation carriers, the risk for colorectal cancer was significantly lower (P = 0.0049) and the risk for endometrial cancer significantly higher (P = 0.02) than in MLH1 and MSH2 mutation carriers. In male carriers, the risk for colorectal cancer was lower in MSH6 mutation carriers, but the difference was not significant (P = 0.0854). MSI analysis in colorectal tumors had a sensitivity of 86% in predicting a MMR defect. IHC in all tumors had a sensitivity of 90% in predicting a mutation in MSH6. Conclusions: We recommend starting colonoscopic surveillance in female MSH6 mutation carriers from age 30 years. Prophylactic hysterectomy might be considered in carriers older than 50 years. MSI and IHC analysis are sensitive tools to identify families eligible for MSH6 mutation analysis.

Published
2004

249. Studies on the haemostatic defect in a complicated syndrome. An inverse Scott syndrome platelet membrane abnormality?

Author

H, Stormorken, H, Holmsen, R, Sund, K S, Sakariassen, T, Hovig, E, Jellum, and O, Solum

Subjects
Blood Platelets, Male, Hemostasis, Cell Membrane, Humans, Female, Blood Platelet Disorders, Syndrome
Abstract

The Stormorken syndrome is a multifacetted syndrome including a bleeding tendency. No deviations were found in the coagulation- or fibrinolytic systems. Platelet number was low normal, and size abnormal, whereas EM findings were unremarkable. Survival time was half normal. Clot retraction was initially rapid, but clearly decreased, whereas prothrombin consumption was also initially rapid, but complete. Membrane GP's were normal, so was AA metabolism, PI-cycle, granule storage and secretion, and c-AMP function, whereas 5-HT uptake and storage was decreased. Optical platelet aggregation was low normal with all physiological agonists. The only clearly abnormal finding was that coagulant activity was present on non stimulated platelets at the same level as kaolin-stimulated normal platelets. This indicated a platelet abnormality which should lead to a thrombogenic, not to a haemorrhagic trait. This paradox may have its origin in rheology, because when challenged with in vivo shear rates in an ex vivo perfusion chamber, platelet cohesion was abnormally low. Further studies to better delineate the membrane abnormality are underway.

Published
1995

250. Contrast media effects on hemostatic and thrombotic parameters. Possible consequences for practical techniques and prophylactic measures

Author

H. Stormorken and Kjell S. Sakariassen

Subjects
Blood Platelets, medicine.medical_specialty, Endothelium, Contrast Media, 030204 cardiovascular system & hematology, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Thrombin, Internal medicine, Antithrombotic, Medicine, Animals, Humans, Radiology, Nuclear Medicine and imaging, Platelet, Angioplasty, Balloon, Coronary, Hemostasis, Radiological and Ultrasound Technology, business.industry, Thrombosis, General Medicine, Heparin, medicine.disease, Blood Viscosity, surgical procedures, operative, medicine.anatomical_structure, Coagulation, Cardiology, business, medicine.drug, Artery
Abstract

This paper reviews the basic mechanisms of the thrombohemorrhagic balance and ways in which contrast media (CM) influence these processes. Coagulation and platelet functions are strongly inhibited by ionic CM, but weakly so by nonionic CM, whereas the former are more detrimental to endothelium, and thus thrombogenic in this sense. Some observations indicate a lower rate of thromboembolic events with the ionic CM in percutaneous transluminal coronary angioplasty (PTCA) and coronary artery bypass grafting (CABG), but this purported difference does not effect mortality or frequency of re-PTCA and emergency CABG. Thus, to challenge these events, strong acting antithrombotics, which also, unlike heparin, inactivate fibrin-bound thrombin, are necessary. Aggressive anti-atherogenic prophylaxis may hamper both thrombosis and reocclusion. The ideal antithrombotic in this setting is yet to be found.

Published
1995

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