Disease Markers - Volume 15, issue 1-3

Authors: Decruyenaere, M. | Evers-Kiebooms, G. | Claes, E. | Denayer, L. | Welkenhuysen, M. | Legius, E. | Demyttenaere, K.

Article Type: Short Communication

Citation: Disease Markers, vol. 15, no. 1-3, pp. 152-153, 1999

Authors: Bebbington, H.M. | Fallowfield, L.J.

Article Type: Abstract

Citation: Disease Markers, vol. 15, no. 1-3, pp. 154-154, 1999

Authors: Simeonov, E. | Shopova, S. | Dimitrov, B.

Article Type: Abstract

Citation: Disease Markers, vol. 15, no. 1-3, pp. 155-155, 1999

Authors: Watson, Eila | Andermann, Anne | Ciements, Alison | Lucassen, Anneke | Austoker, Joan

Article Type: Abstract

Citation: Disease Markers, vol. 15, no. 1-3, pp. 156-156, 1999

Authors: Miedzybrodzka, Z. | Hamilton, N.M. | Gregory, H. | Milner, B. | Frade, I. | Sinclair, T. | Mollison, J. | Haites, N.

Article Type: Abstract

Citation: Disease Markers, vol. 15, no. 1-3, pp. 157-157, 1999

Authors: Morrison, P.J. | Steel, C.M. | Vasen, H.F.A. | Eccles, D. | Evans, D.G.R. | Møller, P. | Hodgson, S. | Stoppa-Lyonnet, D. | Chang-Claude, J. | Caligo, M. | Olah, E. | Haites, N.E. | Nevin, N.C.

Article Type: Research Article

Keywords: insurance, genetic testing, Europe, guidelines, breast & ovarian cancer

Citation: Disease Markers, vol. 15, no. 1-3, pp. 159-165, 1999

Authors: Heimdal, Ketil | Mæhle, Lovise | Møller, Pål

Article Type: Research Article

Abstract: Based on results from our surveillance program for women at risk for inherited breast cancer, we have calculated cost per year earned. Norwegian National Insurance Service reimbursement fees were used in the calculations. The calculated costs are based on empirical figures for expanding already established medical genetic departments and diagnostic outpatient clinics to undertake the work described. Cost per year earned was estimated at Euro 753 using our current practice of identifying the high-risk women through …a traditional cancer family clinic. A strategy of identifying the high-risk families through genetic testing of all incident breast and ovarian cancers for founder mutations in BRCA1, will increase the cost to Euro 832. Costs related more to genetic counseling and clinical follow-up than to laboratory procedures. This potential economic limiting factor coincides with a shortage of personnel trained in genetic counseling. The number of relatives counseled to identify one healthy female mutation carrier (i.e. the uptake of genetic testing) is more important to cost-effectiveness than family size. Costs will vary depending upon the penetrance of the mutations detected and the prevalence of founder mutations in the population examined. Prevalences of BRCA1 founder mutations in some high incidence areas of Norway may be sufficiently high to consider population screening. Unlike mutation screening of cancer genes, founder mutation analysis will not identify DNA variants of uncertain clinical significance. Identification of high-risk families through founder mutation analysis of BRCA1 ensures that families with maximum risks are given first access to the limited resources of the high-risk clinics. This may be the greatest contribution to increased cost effectiveness of such a strategy. The assumptions underlying the calculations are discussed. The conclusion is that inherited breast cancer may be managed effectively for the cost of Euro 7501,600 per year earned. Show more

Keywords: familial breast cancer, cost effectiveness analysis,

Citation: Disease Markers, vol. 15, no. 1-3, pp. 167-173, 1999

Authors: Turner, Richard D.

Article Type: Short Communication

Citation: Disease Markers, vol. 15, no. 1-3, pp. 175-176, 1999

Authors: Macdonald, Angus S.

Article Type: Abstract

Citation: Disease Markers, vol. 15, no. 1-3, pp. 177-177, 1999

Authors: Møller, Pål | Reis, Marta M. | Evans, Gareth | Vasen, Hans | Haites, Neva | Anderson, Elaine | Steel, C. Michael | Apold, Jaran | Lalloo, Fiona | Mæhle, Lovise | Preece, Paul | Gregory, Helen | Heimdal, Ketil | , European Familial Breast Cancer Collaborative Group

Article Type: Research Article

Abstract: BACKGROUND: Surveillance programmes for women at increased genetic risk of breast cancer are being established worldwide but little is known of their efficacy in early detection of cancers and hence reduction in mortality. METHODS: Data were contributed from seven centres participating in the EU Demonstration Programme on Clinical Services for Familial Breast Cancer.  All breast tumours (n = 161) detected prospectively, from the time of enrolment of women in a screening programme, were recorded.  Analysis took …account of age at diagnosis, whether tumours were screen-detected or not, their pathological stage and outcome by KaplanMeier survival plots. RESULTS: Mean age at diagnosis was 48.6 years. Overall, 75% of tumours were detected in the course of planned examinations.  For women under age 50 at diagnosis, this figure was 68%.  Eighteen percent were mammographically negative, (23% in patients under age 50).  At first ("prevalence") round and at follow-up screening, 16% and 22% of tumours respectively were carcinoma in situ (CIS) while 27% and 22% respectively had evidence of nodal or distant spread (CaN+).  Comparison of screen-detected and other tumours showed that the latter were more frequently mammogram-negative and CaN+.  Overall five-year survival was 89% and five-year event-free survival 86%.  Five-year event-free survival was 100% for CIS, 88% for invasive cancer without nodal or distant spread and 67% for CaN+. CONCLUSIONS: The majority of cancers arising in women at increased genetic risk of breast cancer can be detected by planned screening, even in those under age 50.  Surveillance should include regular expert clinical examination and teaching of "breast awareness" as well as mammography.  Attention to the logistics of screening programmes may improve still further the proportion of tumours that are screen-detected.  The trend towards earlier pathological stage in tumours detected during follow-up rounds and the preliminary findings on survival analysis suggest that this approach will prove to be of long-term benefit for breast cancer families. Show more

Keywords: inherited, familial, breast cancer, prognosis, stage, diagnosis, survival, screening, mammography

Citation: Disease Markers, vol. 15, no. 1-3, pp. 179-186, 1999

Authors: Eccles, D.M. | Simmonds, P. | Goddards, J. | Coultas, M. | Lalloo, F. | Evans, G. | Haites, N.

Article Type: Abstract

Citation: Disease Markers, vol. 15, no. 1-3, pp. 187-189, 1999

Authors: De Vos, M. | Poppe, B. | Delvaux, I. | Mortier, G. | Claes, K. | Messiaen, L. | De Paepe, A.

Article Type: Research Article

Abstract: The counselling experience with 50 Flemish families in whom mutation analysis of the total coding region of the BRCA1 and BRCA2 gene has been initiated, is presented. Genetic testing for breast-ovarian cancer susceptibility is offered by a multidisciplinary team.  During the counselling sessions, special attention is given to comprehensible and emotionally acceptable communi-cation of genetic information and to the psychosocial evaluation of the counselee.  The limitations of molecular testing and the controversy surrounding cancer …prevention strategies are also discussed. The overall acceptance of mutation testing is high. Some of the problems encountered are inaccuracy of the reported family history, poor retrieval of the medical records of affected family members and the reluctance of many patients to inform their relatives about the possibility of being tested. Show more

Citation: Disease Markers, vol. 15, no. 1-3, pp. 191-195, 1999

Authors: Baildam, A.D.

Article Type: Short Communication

Citation: Disease Markers, vol. 15, no. 1-3, pp. 197-198, 1999

Authors: Bonanni, B. | Veronesi, U.

Article Type: Short Communication

Citation: Disease Markers, vol. 15, no. 1-3, pp. 199-200, 1999

Authors: Gregory, Helen | Gibbons, Barbara | Haites, Neva

Article Type: Short Communication

Citation: Disease Markers, vol. 15, no. 1-3, pp. 201-203, 1999

Authors: Eeles, R.A. | Camplejohn, R. | Peacock, J. | McMillan, T.

Article Type: Abstract

Citation: Disease Markers, vol. 15, no. 1-3, pp. 204-204, 1999

Authors: Møller, P. | Borg, Å. | Evans, G. | Haites, N. | Steel, C.M. | Vasen, H. | Gregory, H. | Hodgson, S. | Apold, J. | Lalloo, F. | Mæhle, L. | Anderson, E. | Heimdal, K.

Article Type: Abstract

Citation: Disease Markers, vol. 15, no. 1-3, pp. 205-205, 1999

Authors: Møller, Pål | Evans, Gareth | Anderson, Elaine | Mæhle, Lovise | Lalloo, Fiona | Heimdal, Ketil R. | Steel, C. Michael

Article Type: Abstract

Citation: Disease Markers, vol. 15, no. 1-3, pp. 206-206, 1999

Authors: Møller, P. | Evans, G. | Haites, N. | Vasen, H. | Reis, M.M. | Anderson, E. | Apold, J. | Hodgson, S. | Eccles, D. | Olsson, H. | Stoppa-Lyonnet, D. | Chang-Claude, J. | Morrison, P.J. | Bevilacqua, G. | Heimdal, K. | Mæhle, L. | Lalloo, F. | Gregory, H. | Preece, P. | Borg, Å. | Nevin, N.C. | Caligo, M. | Steel, C.M.

Article Type: Research Article

Abstract: Protocols for activity aiming at early diagnosis and treatment of inherited breast or breast-ovarian cancer have been reported.  Available reports on outcome of such programmes are considered here. It is concluded that the ongoing activities should continue with minor modifications.  Direct evidence of a survival benefit from breast and ovarian screening is not yet available.  On the basis of expert opinion and preliminary results from intervention programmes indicating good detection rates for early breast cancers …and 5-year survival concordant with early diagnosis, we propose that women at high risk for inherited breast cancer be offered genetic counselling, education in 'breast awareness' and annual mammography and clinical expert examination from around 30 years of age.  Mammography every second year may be sufficient from 60 years on.  BRCA1 mutation carriers may benefit from more frequent examinations and cancer risk may be reduced by oophorectomy before 4050 years of age.  We strongly advocate that all activities should be organized as multicentre studies subjected to continuous evaluation to measure the effects of the interventions on long-term mortality, to match management options more precisely to individual risks and to prepare the ground for studies on chemoprevention. Show more

Citation: Disease Markers, vol. 15, no. 1-3, pp. 207-211, 1999