For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
62
views
17
references
 Top references
cited by
66
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      442
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: not found

      A prospective study of neurofibromatosis type 1 cancer incidence in the UK

      research-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Neurofibromatosis type 1 (NF1) is an autosomal dominant condition affecting around one in 3000 live births. The manifestations of this condition are extremely variable, even within families, and genetic counselling is consequently difficult with regard to prognosis. Individuals with NF1 are acknowledged to be at increased risk of malignancy. Several studies have previously attempted to quantify this risk, but have involved relatively small study populations. We present prospective data from 448 individuals with NF1 with a total of 5705 years of patient follow-up. These data have been collected via the UK NF1 association for patients. Demographic information on the affected individuals was cross-referenced with UK cancer registry data by the UK Office of National Statistics. The overall risk of cancer was 2.7 times higher in this cohort of NF1 patients than in the general population (95% confidence interval (CI) 1.9–3.7). The cumulative risk of a malignancy by age 50 years was 20% (95% CI 14–29%); beyond this age, the risk of cancer was not significantly elevated ( P=0.27). The most frequent types of cancer were connective tissue (14% risk by age 70, 95% CI 7.8–24%) and brain tumours (7.9, 95% CI 3.9–16%). There was no statistically significant excess of cancers at other sites ( P=0.22).

          Related collections

          Most cited references17

          • Record: found
          • Abstract: found
          • Article: not found

          The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

          B Korf, D Viskochil, A Aylsworth … (1997)
          Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Development Conference in 1987, there has been significant progress toward a more complete understanding of the molecular bases for neurofibromatosis 1 and neurofibromatosis 2. Our objective was to determine the diagnostic criteria for neurofibromatosis 1 and neurofibromatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders. Published reports from 1966 through 1996 obtained by MEDLINE search and studies presented at national and international meetings. All studies were reviewed and analyzed by consensus from multiple authors. Peer-reviewed published data were critically evaluated by independent extraction by multiple authors. The main results of the review were qualitative and were reviewed by neurofibromatosis clinical directors worldwide through an Internet Web site. On the basis of the information presented in this review, we propose a comprehensive approach to the diagnosis and treatment of individuals with neurofibromatosis 1 and neurofibromatosis 2.
          Article 0 comments Cited 161 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.

            Sonja A. Rasmussen, Quanhe Yang, J.M. Friedman (2001)
            Although neurofibromatosis 1 (NF1) is a relatively common autosomal dominant condition, information about its effect on mortality is limited. We used Multiple-Cause Mortality Files, compiled from U.S. death certificates by the National Center for Health Statistics, for 1983 through 1997. We identified 3,770 cases of presumed NF1 among 32,722,122 deaths in the United States, a frequency of 1/8,700, which is one-third to one-half the estimated prevalence. Mean and median ages at death for persons with NF1 were 54.4 and 59 years, respectively, compared with 70.1 and 74 years in the general population. Results of proportionate mortality ratio (PMR) analyses showed that persons with NF1 were 34 times more likely (PMR=34.3, 95% confidence interval [CI] 30.8-38.0) to have a malignant connective or other soft-tissue neoplasm listed on their death certificates than were persons without NF1. Overall, persons with NF1 were 1.2 times more likely than expected (PMR=1.21, 95% CI 1.14-1.28) to have a malignant neoplasm listed on their death certificates, but the PMR was 6.07 (95% CI 4.88-7.45) for persons who died at 10-19 years of age and was 4.93 (95% CI 4.14-5.82) for those who died at 20-29 years of age. Similarly, vascular disease was recorded more often than expected on death certificates of persons with NF1 who died at <30 years of age (PMR=3.26, 95% CI 1.31-6.71 at age <10 years; PMR=2.68, 95% CI 1.38-4.68 at age 10-19 years; and PMR=2.25, 95% CI 1.46-3.32 at 20-29 years) but not in older persons. This study supports previous findings of decreased life expectancy for persons with NF1 and, within the limitations of death certificates, provides population-based data about NF1 morbidity and mortality that are useful to clinicians caring for patients with NF1.
            Article 0 comments Cited 124 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population.

              M Zöller, B Rembeck, A Oden-Gangloff … (1997)
              The development of malignant and benign tumors in patient with neurofibromatosis type 1 (NF1) was investigated in a long term follow-up study of 70 adult NF1 patients living in Göteborg, Sweden, on January 1, 1978. Their mean age at that time was 44 years (range, 20-81 years). The 70 NF1 patients had previously been investigated in a population-based study. The first part of this study involved a cancer registry study. The authors compared the number of tumors in the 70 NF1 patients reported to the Swedish Cancer Registry during the period 1978-1989 with the number of tumors expected in the general population by matching the incidence rates of the two populations specific to age, time of follow-up, and gender. The 95% confidence interval for the risk quotient between the risk to the patients and the risk to the general population was estimated. The second part of the study was a clinical pathologic follow-up study. All living patients were offered a clinical reexamination in 1990. All hospital records for all the NF1 patients were reviewed, and death certificates were also reviewed when available. Malignant tumors were reported to the Cancer Registry four times as often in the NF1 patient group as in the general population (95% confidence interval, 2.1-7.6) during the follow-up period 1978-1989. Before 1978, 5 of 70 patients (7%) had 6 malignant tumors; these patients were not included in the Cancer Registry study. Using all available clinical data on the 70 NF1 patients from their birth up to 1990, the authors found that 17 of 70 patients (24%) had developed a total of 19 malignant tumors, namely, 5 sarcomas (in 7% of patients), 13 carcinomas (in 16%), and 1 malignant melanoma (in 1%). Four pheochromocytomas (in 6% of patients), 2 adenomas, and 1 C-cell hyperplasia were diagnosed. Five gastrointestinal stromal tumors (in 7% of patients) were also diagnosed. Malignant tumors were reported to the Swedish Cancer Registry significantly more often in the NF1 patients than was expected in the general population matched for age, gender, and time of follow-up. The development of tumors is part of the NF1 disease process, and this deserves attention both in the clinical setting and in family counseling dealing with complications of NF1 in adulthood.
              Article 0 comments Cited 83 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Br J Cancer
                Title: British Journal of Cancer
                ISSN (Print): 0007-0920
                ISSN (Electronic): 1532-1827
                Publication date (Electronic): 11 July 2006
                Publication date (Print): 17 July 2006
                Volume: 95
                Issue: 2
                Pages: 233-238
                Affiliations
                [1 ]Department of Medical Genetics, Addenbrookes Hospital , Hills Road, Cambridge CB2 2QQ, UK
                [2 ]Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory , Cambridge CB1 8RN, UK
                [3 ]Cancer Research UK Department of Oncology, Hutchison/MRC Research Centre , Cambridge CB2 2XZ, UK
                [4 ]Faculty of Social and Political Sciences, Centre of Family Research, University of Cambridge, Free School Lane , Cambridge CB2 3RF, UK
                [5 ]Medical Genetics Service for Wales, Institute of Medical Genetics, University Hospital of Wales , Cardiff CF14 4XN, UK
                Author notes
                [* ]Author for correspondence: db314@ 123456cam.ac.uk
                Article
                Publisher Item ID: 6603227
                DOI: 10.1038/sj.bjc.6603227
                PMC ID: 2360616
                PubMed ID: 16786042
                SO-VID: 7cf657d3-ec1d-435c-bf70-1fa541a4687a
                Copyright © Copyright 2006, Cancer Research UK
                History
                Date received : 24 March 2006
                Date revision received : 09 May 2006
                Date accepted : 17 May 2006
                Categories
                Subject: Genetics and Genomics

                ScienceOpen disciplines: Oncology & Radiotherapy
                Keywords: prospective,nf1,cancer incidence
                Data availability:
                ScienceOpen disciplines: Oncology & Radiotherapy
                Keywords: prospective, nf1, cancer incidence

                Comments

                Comment on this article

                scite_

                Similar content442

                See all similar

                Cited by66

                See all cited by

                Most referenced authors188

                See all reference authors