89 results on '"Meijers-Heijboer, E. J."'
Search Results
2. Genetic counselling for pulmonary arterial hypertension: a matter of variable variability
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Leter, E. M., Boonstra, A. B., Postma, F. B., Gille, J. J. P., Meijers-Heijboer, E. J., and Vonk Noordegraaf, A.
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- 2011
- Full Text
- View/download PDF
3. Accuracy of BRCA1 and BRCA2 Founder Mutation Analysis in Formalin-Fixed and Paraffin-Embedded (FFPE) Tissue
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Adank, M. A., Brogi, E., Bogomolniy, F., Wadsworth, E. A., Lafaro, K. J., Yee, C. J., Kirchhoff, T., Meijers-Heijboer, E. J., Kauff, N. D., Boyd, J., and Offit, K.
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- 2006
- Full Text
- View/download PDF
4. Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene
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Drechsler, M., Meijers-Heijboer, E. J., Schneider, S., Schurich, B., Grond-Ginsbach, C., Tariverdian, G., Kantner, G., Blankenagel, A., Kaps, D., Schroeder-Kurth, T., and Royer-Pokora, B.
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- 1994
- Full Text
- View/download PDF
5. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
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van Asperen, C J, Brohet, R M, Meijers-Heijboer, E J, Hoogerbrugge, N, Verhoef, S, Vasen, H F A, Ausems, M G E M, Menko, F H, Garcia, E B Gomez, Klijn, J G M, Hogervorst, F B L, van Houwelingen, J C, van’t Veer, L J, Rookus, M A, and van Leeuwen, F E
- Published
- 2005
6. What do women really want to know? Motives for attending familial breast cancer clinics
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van Asperen, C J, van Dijk, S, Zoeteweij, M W, Timmermans, D R M, de Bock, G H, Meijers-Heijboer, E J, Niermeijer, M F, Breuning, M H, Kievit, J, and Otten, W
- Published
- 2002
7. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree
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Wagner, A, Hendriks, Y, Meijers-Heijboer, E J, de Leeuw, W J F, Morreau, H, Hofstra, R, Tops, C, Bik, E, Bröcker-Vriends, A H J T, van der Meer, C, Lindhout, D, Vasen, H F A, Breuning, M H, Cornelisse, C J, van Krimpen, C, Niermeijer, M F, Zwinderman, A H, Wijnen, J, and Fodde, R
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- 2001
8. Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/ BRCA2 gene mutation in The Netherlands
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LODDER, L N, FRETS, P G, TRIJSBURG, R W, MEIJERS-HEIJBOER, E J, KLIJN, J G M, and NIERMEIJER, M F
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- 2000
9. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation
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Meijers-Heijboer, E J, Verhoog, L C, Brekelmans, C T M, Seynaeve, C, Tilanus-Linthorst, M M A, Wagner, A, Dukel, L, Devilee, P, van den Ouweland, A M W, van Geel, A N, and Klijn, J G M
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- 2000
10. Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks?
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Lodder, L N, Frets, P G, Trijsburg, R W, Meijers-Heijboer, E J, Klijn, J G M, Duivenvoorden, H J, Tibben, A, Wagner, A, van der Meer, C A, Devilee, P, Cornelisse, C J, and Niermeijer, M F
- Published
- 1999
11. Evaluation of an expanded carrier screening offer in a non commercial setting
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Lakeman, P., van Koningsbruggen, S., Redeker, E. J. W., Ottenheim, C. P. E., Mathijssen, I. B., Cornel, M. C., Mannens, M. M. A. M., Meijers-Heijboer, E. J., Henneman, L., Clinical genetics, APH - Personalized Medicine, APH - Quality of Care, Amsterdam Reproduction & Development, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, and CCA - Treatment and quality of life
- Published
- 2018
12. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1
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Verhoog, L C, Brekelmans, C T M, Seynaeve, C, van den Bosch, L M C, Dahmen, G, van Geel, A N, Tilanus-Linthorst, M M A, Bartels, C C M, Wagner, A, van den Ouweland, A, Devilee, P, Meijers-Heijboer, E J, and Klijn, J G M
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- 1998
13. Effect on a Dutch family of predictive DNA-testing for hereditary breast and ovarian cancer
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Dudok de Wit, A C, Meijers-Heijboer, E J, Tibben, A, Frets, P G, Klijn, J G M, Devilee, P, and Niermeijer, M F
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- 1994
14. Presymptomatic DNA Testing and Prophylactic Surgery in Families With a BRCA1 or BRCA2 Mutation
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Mark, David H. and Meijers-Heijboer, E. J.
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Genetic screening -- Evaluation ,Mastectomy -- Usage ,Breast cancer -- Prevention ,Ovarian cancer -- Prevention - Published
- 2000
15. Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings
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Zwijnenburg, P. J. G., Deurloo, K. L., Waterham, H. R., Meijers-Heijboer, E. J., van Vugt, J. M. G., Tan-Sindhunata, M. B., Human genetics, Obstetrics and gynaecology, ICaR - Ischemia and repair, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, and Human Genetics
- Published
- 2010
16. Preventief chirurgisch ingrijpen bij erfelijke belasting voor borstkanker
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Menke-Pluymers, M. B. E., Seynaeve, C., van Geel, A. N., Klijn, J. G. M., Meijers-Heijboer, E. J., Eggermont, A. M. M., and Human Genetics
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skin and connective tissue diseases - Abstract
Preventive surgical procedures for inherited risk of breast cancer Forwomen with a demonstrated BRCA1 or BRCA2 mutation, the cumulative risk of developing invasive breast cancer before the age of 70 years is about 50-85% and the risk of developing invasive epithelial ovarian cancer is 20-60%. Regular surveillance including physical examination and imaging is offered to mutation carriers and the options for risk-reducing surgery are discussed. Although bilateral prophylactic mastectomy is a drastic intervention, it significantly reduces the incidence of breast cancer. For mutation carriers with breast cancer, the decision to combine risk-reducing surgery with treatment is determined by the TNM stage of the disease. Prophylactic bi- or contralateral mastectomy after previous treatment for unilateral breast cancer reduces the incidence of contralateral breast cancer, but has no impact on survival. The complexity of the problem demands a multidisciplinary approach within the context of a family cancer clinic
- Published
- 2005
17. Genetic testing and prophylactic surgery in familiar clusters of BRCA1 or BRCA2 mutation
- Author
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Meijers-Heijboer, E. J., Verhoog, L. C., Brekelmans, C. T. M., Seynaeve, C., Tilanus-Linthorst, M. M. A., Wagner, A., Dukel, L., Devilee, P., van den Ouweland, A. M. W., van Geel, A. N., Klijn, J. G. M., and Other departments
- Published
- 2000
18. Prognostic significance of germline BRCA2 mutations in hereditary breast cancer patients
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Verhoog, L. C., Berns, E. M., Brekelmans, C. T., Seynaeve, C., Meijers-Heijboer, E. J., Klijn, J. G., and Other departments
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endocrine system diseases ,skin and connective tissue diseases - Abstract
Breast cancer in BRCA2 gene mutation carriers differs from BRCA1-associated breast cancer or so-called sporadic breast cancer in clinical features and behavior. These differences may be of importance for the prevention, screening, and ultimately treatment of breast cancer in women with such germline mutations. We reviewed the few studies that have reported on survival in patients with BRCA2-associated breast cancer. In this article we discuss why family history is no substitute for hereditary breast cancer with regard to studying survival and possible reasons why studies using family history yield contradictory results, why BRCA2-associated breast cancer should be considered a unique entity, and what methodological problems may exist, especially with regard to family-based studies. Five studies have reported on survival in BRCA2-associated breast cancer. Two studies showed a statistically significant worse survival for BRCA2 patients, but the patients from one of these studies were later claimed to have a trend toward better prognosis when controls were matched for age and year of diagnosis. The other study found that the unfavorable prognosis of BRCA2 patients was, to a great extent, due to a worse stage of the disease at time of diagnosis. The remaining three studies showed no significant effect of germline BRCA2 mutations on survival. The numbers of BRCA2 patients investigated in these studies were 42, 20, 23, 28, and 54 patients. Five-year overall survival in these patients varied from 65% to 74%. No definite conclusion can be made with regard to the prognosis of BRCA2-associated breast cancer, but large differences in comparison with sporadic breast cancer are not likely to exist. Breast cancer caused by BRCA2 mutations is also a distinct entity with its own features when compared with BRCA1-associated breast cancer. In contrast with BRCA1-associated breast cancer, BRCA2 tumors tend to be more often steroid receptor-positive
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- 2000
19. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction
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Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, and Easton, Douglas F
- Abstract
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10(-11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers., SWE-BRCA collaborators: Hans Ehrencrona, Richard Rosenquist Brandell and Niklas Dahl, Institutionen för genetik och patologi, Department of Genetics and Pathology, Uppsala University Hospital
- Published
- 2010
- Full Text
- View/download PDF
20. Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: comparing questionnaire results with in-depth interviews
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Dudok-de Wit, A. C., Tibben, A., Duivenvoorden, H. J., Niermeijer, M. F., Passchier, J., Trijsburg, R. W., Lindhout, D., Meijers-Heijboer, E. J., Frets, P. G., Lodder, L. N., Zoetewij, M. W., Klijn, J. G. M., Brocker-Vriends, A., van Haeringen, A., Helderman, A. T. J. M., Hilhorst-Hofstee, Y., Kant, S., Maat-Kievit, J. A., Oosterwijk, J. C., van der Smagt, J. J., Vegter-van der Vlis, M., Vries-van der Weerd, M. A. C. S., Zoeteweij, M. W., Bakker, E., Devilee, P., Losekoot, M., Tops, C., Cornelisse, C. J., Vasen, H. F. A., Psychiatry, Clinical Genetics, and Other departments
- Subjects
Coping (psychology) ,medicine.diagnostic_test ,media_common.quotation_subject ,Genetic counseling ,Hospital Anxiety and Depression Scale ,Distress ,Denial ,Beck Hopelessness Scale ,medicine ,Anxiety ,medicine.symptom ,Psychology ,Genetics (clinical) ,Clinical psychology ,media_common ,Genetic testing - Abstract
In 50% risk carriers for Huntington disease (n = 41), hereditary cerebral hemorrhage with amyloidosis Dutch-type (n = 9) familial adenomatous polyposis coli (n = 45) and hereditary breast and ovarian cancer (n = 24), pretest intrusion and avoidance (Impact of Event Scale), anxiety and depression (Hospital Anxiety and Depression Scale), feelings of hopelessness (Beck Hopelessness Scale), and psychological complaints (Symptom Checklist) were assessed to determine their psychological well-being, The manner of discussing the genetic disorder, the test, and its implications during a semistructured interview (reflecting on one's emotions without getting carried away or dismissing or minimizing the subject) was judged in terms of coherence, Participants at risk for neurodegenerative disorders had higher anxiety and depression scores and more psychological complaints than did those at risk for cancer syndromes, Those reporting high intrusion/high avoidance had higher anxiety and depression scores and more psychological complaints than did those reporting low intrusion/low avoidance, However, the scoring of the interview showed that participants reporting high intrusion/high avoidance were more reflective about their emotions without getting carried away or dismissing the subject (e.g., more coherent) than those reporting low intrusion/low avoidance, This result suggests that participants with higher stress scores may be actively dealing with the emotional implications of the test, whereas those with low stress scores may (as yet) be unable to face these implications, It is important to identify the strategy of coping with threat to provide suitable counseling and necessary guidance, However, long-term follow-up is needed to learn the consequences of a denial coping strategy for those participating in a genetic testing program, (C) 1998 Wiley-Liss, Inc
- Published
- 1998
21. Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders
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Dudokdewit, A. C., Tibben, A., Duivenvoorden, H. J., Frets, P. G., Zoeteweij, M. W., Losekoot, M., Haeringen, A., Niermeijer, M. F., Passchier, J., Dick Lindhout, Meijers-Heijboer, E. J., Lodder, L. N., Trijsburg, R. W., Klijn, J. G. M., Bröcker-Vriends, A., Helderman, A. T. J. M., Hilhorst-Hofstee, Y., Kant, S., Maat-Kievit, J. A., Oosterwijk, J. C., Smagt, J. J., Vegter-Van Vlis, M., Vries-Van Weerd, M. -A C. S., Bakker, E., Cornelisse, C. J., Devilee, P., Tops, C., Vasen, H. F. A., Damage and Repair in Cancer Development and Cancer Treatment (DARE), and Targeted Gynaecologic Oncology (TARGON)
- Subjects
HUNTINGTON DISEASE ,CANCER SUSCEPTIBILITY GENE ,GRADIENT-GEL-ELECTROPHORESIS ,DUTCH PROGRAM ,hereditary neurodegenerative disorders ,HEREDITARY CEREBRAL-HEMORRHAGE ,OVARIAN-CANCER ,FAMILIAL BREAST ,EVENT SCALE ,ALZHEIMERS-DISEASE ,PROTEIN TRUNCATION TEST ,pre-test psychological distress ,predictive DNA testing ,hereditary cancer syndromes - Abstract
In a comparative study on the effects of predictive DNA testing for late onset disorders, pre-test psychological distress was assessed in people at risk for Huntington's disease (HD, n=41), cerebral haemorrhage (HCHWA-D, n=9), breast and ovarian cancer (HBOC, n=24), and polyposis coli (FAP, n=45). Partners, if available, also participated in the study, Distress was measured with the subscales Intrusion and Avoidance of the Impact of Event Scale. People at risk for the neurodegenerative disorders reported more avoidance than those at risk for the cancer syndromes. People at risk for FAP and partners of those at risk for HBOC reported less intrusion than the others at risk and the other partners. Subjects who were more distressed reported more experiences with the disease in close relatives, the disease having a great impact on their lives, having considerations against predictive testing, expecting that being identified as a gene carrier would have adverse effects, and expecting relief after being identified as a non-carrier. Test candidates who expected an increase of personal problems showed higher avoidance, whereas those who could better anticipate future life as a carrier had higher intrusion levels. Generally, subjects with high distress levels are of more concern to the healthcare professional than those with low distress levels. However, high distress may reflect worrying as a mental preparation for the test result, whereas low distress may indicate denial-avoidance behaviour and poor anticipation of the test outcome. In pre-test counselling sessions, this should be acknowledged and addressed.
- Published
- 1997
22. Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16
- Author
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Wijnen, J., Meera Khan, P., Vasen, H., Menko, F., Klift, H. D., Broek, M. D., Leeuwen-Cornelisse, I., Nagengast, F., Meijers-Heijboer, E. J., Dick Lindhout, Griffioen, G., Cats, A., Kleibeuker, J., Varesco, L., Bertario, L., Bisgaard, M. -L, Mohr, J., Kolodner, R., Fodde, R., Other departments, and Guided Treatment in Optimal Selected Cancer Patients (GUTS)
- Subjects
Male ,congenital, hereditary, and neonatal diseases and abnormalities ,DNA Repair ,Molecular Sequence Data ,Polymerase Chain Reaction ,GRADIENT GEL-ELECTROPHORESIS ,Proto-Oncogene Proteins ,Humans ,GENETIC INSTABILITY ,neoplasms ,Germ-Line Mutation ,Adaptor Proteins, Signal Transducing ,DNA Primers ,Genes, Dominant ,SPECTRUM ,Base Sequence ,COLON-CANCER ,Nuclear Proteins ,nutritional and metabolic diseases ,Exons ,SINGLE-BASE CHANGES ,Colorectal Neoplasms, Hereditary Nonpolyposis ,digestive system diseases ,Neoplasm Proteins ,Pedigree ,DNA-Binding Proteins ,Europe ,POLYPOSIS ,HOMOLOG ,MutS Homolog 2 Protein ,Mutation ,Electrophoresis, Polyacrylamide Gel ,Female ,Carrier Proteins ,MutL Protein Homolog 1 ,Research Article - Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant cancer susceptibility condition. Inherited mutations in at least four DNA mismatch repair genes, hMSH2, hMLH1, hPMS1, and hPMS2, are known to cause HNPCC. In this study we used denaturing gradient gel electrophoresis (DGGE) to screen for hMLH1 mutations in 34 unrelated HNPCC families (30 Dutch, 3 Italian, and 1 Danish). Ten novel pathogenic germ-line mutations (seven affecting splice sites, two frameshifts, and one in-frame deletion of a single amino acid) have been identified in 12 (35%) of these families. In a previous study, hMSH2 mutations were found in 21% of the same families. While the spectrum of mutations at the hMSH2 gene among HNPCC patients appears heterogeneous, a cluster of hMLH1 mutations has been found in the region encompassing exons 15 and 16, which accounts for 50% of all the independent hMLH1 mutations described to date and for > 20% of the unrelated HNPCC kindreds here analyzed. This unexpected finding has a great practical value in the clinical scenario of genetic services.
- Published
- 1996
23. Eerste Nederlandse ervaringen met een presymptomatische DNA-test bij familiair mamma-/ovariumcarcinoom. Rotterdamse Werkgroep voor Erfelijke Tumoren
- Author
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Klijn, J. G., Devilee, P., van Geel, A. N., Tilanus-Linthorst, M. M., Dudok-de Wit, C., Meijers-Heijboer, E. J., and Other departments
- Subjects
skin and connective tissue diseases - Abstract
Recent discoveries in the field of molecular-genetic research make it possible to detect an increased genetic risk of tumours, because several genes are linked to hereditary forms of breast cancer. The breast cancer gene BRCA1, located on chromosome 17q, is quantitatively the most important gene so far. A BRCA1 gene mutation is estimated to occur in 1-3 per 1000 women in the general population, i.e. in about 10,000 women among the 4 million Dutch women aged 25-55 years. In this study experiences are described concerning oncologic, clinical-genetic and psychologic aspects in the first Dutch family in which a BRCA1-gene defect was detected with the corresponding hereditary breast/ovarian cancer syndrome. Of the relatives 88% participated in the genetic family study and 76% wished to be informed on the individual DNA-test results. From the first-degree relatives of the breast cancer patients 54% appeared to be gene mutation carrier. The detection of a gene mutation in a woman could make her decide to undergo preventive mastectomy and (or) ovariectomy, besides regular breast examination and mammography. Surgeons and radiotherapists, the group of doctors who treat primary breast cancer, have to anticipate more radical operations with regard to breasts in this selected group of (future) patients. Detection of the gene may also have consequences for family planning. Identification of carriers of the gene mutation can lead to a selection of women with increased risk of breast cancer. Primary or secondary preventive measures, early diagnostic management and regular examination may lead to a decrease in death from breast cancer
- Published
- 1995
24. Klonering van het eerste gen voor borst-/ovariumkanker (BRCA1), kartering van een tweede genlocus (BRCA2) en consequenties voor de klinische praktijk
- Author
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Oosterwijk, J C, Devilee, P, Meijers-Heijboer, E J, Menko, F H, Klijn, J G, Cornelisse, C J, Other departments, Damage and Repair in Cancer Development and Cancer Treatment - 1, and Targeted Gynnaecologic Oncology
- Subjects
Genetic Markers ,Male ,Ovarian Neoplasms ,Chromosomes, Human, Pair 13 ,Genetic Linkage ,Chromosome Mapping ,Humans ,Breast Neoplasms ,Female ,Breast Neoplasms, Male ,Chromosomes, Human, Pair 17 - Published
- 1995
25. Effect on a Dutch family of predictive DNA-testing for hereditary breast and ovarian cancer
- Author
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de Wit, A. C., Meijers-Heijboer, E. J., Tibben, A., Frets, P. G., Klijn, J. G., Devilee, P., Niermeijer, M. F., and Other departments
- Published
- 1994
26. Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings
- Author
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Zwijnenburg, P. J. G., primary, Deurloo, K. L., additional, Waterham, H. R., additional, Meijers‐Heijboer, E. J., additional, van Vugt, J. M. G., additional, and Tan‐Sindhunata, M. B., additional
- Published
- 2009
- Full Text
- View/download PDF
27. Contralateral breast cancer risk is influenced by the age at onset in BRCA1-associated breast cancer
- Author
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Verhoog, L C, primary, Brekelmans, C T M, additional, Seynaeve, C, additional, Meijers-Heijboer, E J, additional, and Klijn, J G M, additional
- Published
- 2000
- Full Text
- View/download PDF
28. Survival in Hereditary Breast Cancer Associated With Germline Mutations of BRCA2
- Author
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Verhoog, L. C., primary, Brekelmans, C.T.M., additional, Seynaeve, C., additional, Dahmen, G., additional, van Geel, A. N., additional, Bartels, C.C.M., additional, Tilanus-Linthorst, M.M.A., additional, Wagner, A., additional, Devilee, P., additional, Halley, D.J.J., additional, van den Ouweland, A.M.W., additional, Meijers-Heijboer, E. J., additional, and Klijn, J.G.M., additional
- Published
- 1999
- Full Text
- View/download PDF
29. Survival and Tumour Characteristics of Breast-Cancer Patients with Germline Mutations of BRCA1
- Author
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Verhoog, L. C., primary, Brekelmans, C. T. M., additional, Seynaeve, C., additional, van den Bosch, L. M. C., additional, Dahmen, G., additional, van Geel, A. N., additional, Tilanus-Linthorst, M. M. A., additional, Bartels, C. C. M., additional, Wagner, A., additional, van den Ouweland, A., additional, Devilee, P., additional, Meijers-Heijboer, E. J., additional, and Klijn, J. G. M., additional
- Published
- 1998
- Full Text
- View/download PDF
30. BRCA1 in the family: A case description of the psychological implications
- Author
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DudokdeWit, A. C., primary, Tibben, A., additional, Frets, P. G., additional, Meijers-Heijboer, E. J., additional, Devilee, P., additional, Klijn, J. G. M., additional, Oosterwijk, J. C., additional, and Niermeijer, M. F., additional
- Published
- 1997
- Full Text
- View/download PDF
31. Males at-risk for the BRCA1-gene, the psychological impact
- Author
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Dudok de Wit, A. C., primary, Tibben, A., additional, Frets, P. G., additional, Meijers-Heijboer, E. J., additional, Devilee, P., additional, and Niermeijer, M. F., additional
- Published
- 1996
- Full Text
- View/download PDF
32. Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.
- Author
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Meijers-Heijboer, E J, primary, Sandkuijl, L A, additional, Brunner, H G, additional, Smeets, H J, additional, Hoogeboom, A J, additional, Deelen, W H, additional, van Hemel, J O, additional, Nelen, M R, additional, Smeets, D F, additional, and Niermeijer, M F, additional
- Published
- 1992
- Full Text
- View/download PDF
33. Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders
- Author
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Maugeri, A., Voorhoeve, E., Appelman-Dijkstra, N. M., Dijk, A. T. H., Dijk, F. S., Eekhoff, E. M. W., Elting, M. W., Haeringen, A., Harsevoort, A., Isrie, M., Janus, G. J. M., Jongh, R. T., Kamp, J. M., Maarle, M. C., Carlo Marcelis, Simon, M. E. H., Simsek, S., Stumpel, C. T. R. M., Terhal, P. A., Veenstra-Knol, H. E., Zillikens, M. C., Meijers-Heijboer, E. J., Sistermans, E. A., Weiss, M. M., Pals, G., Micha, D., Human genetics, Amsterdam Reproduction & Development (AR&D), Pathology, Internal medicine, Amsterdam Movement Sciences - Rehabilitation & Development, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Complex Trait Genetics, AGEM - Inborn errors of metabolism, Amsterdam Movement Sciences - Restoration and Development, ACS - Microcirculation, ACS - Atherosclerosis & ischemic syndromes, and ACS - Diabetes & metabolism
34. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
- Author
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Noguchi, Tetsuro, Caldes, Trinidad, Caligo, Maria, Viel, Alessandra, Ramus, Susan J., Claes, Kathleen, Aalfs, Cora M., Kaufman, Bella, Friedman, Eitan, Manoukian, Siranoush, Jernström, Helena, Milgrom, Roni, Schönbuchner, Ines, Cole, Trevor, Allavena, Anna, Isaacs, Claudine, Lazaro, Conxi, Chen, Xiaoqing, Buys, Saundra S., Porteous, Mary E., Hansen, Thomas V.O., Wang, Xianshu, Hardouin, Agnès, Arnold, Norbert, Benitez, Javier, Engel, Christoph, Simard, Jacques, Cook, Jackie, Jensen, Uffe Birk, Preisler-Adams, Sabine, Rantala, Johanna, Walker, Lisa, Meindl, Alfons, Montagna, Marco, Beesley, Jonathan, Aittomäki, Kristiina, Terry, Mary B., Vénat-Bouvet, Laurence, Faivre, Laurence, Miron, Alexander, Domchek, Susan, McGuffog, Lesley, Zikan, Michal, Godino, Javier, Neuhausen, Susan L., Lindblom, Annika, Nathanson, Kate, Van Der Luijt, Rob B., Meijers-Heijboer, E. J., Hamann, Ute, Mazoyer, Sylvie, Davidson, Rosemarie, Hogervorst, Frans, Spurdle, Amanda B., Lalloo, Fiona, Rennert, Gad, Niederacher, Dieter, Zaffaroni, Daniela, Blanco, Ignacio, Wappenschmidt, Barbara, Szabo, Csilla I., Gadzicki, Dorothea, Dubrovsky, Maya, Peock, Susan, Dutra-Clarke, Ana, Ganz, Patricia A., Peterlongo, Paolo, Weitzel, Jeffrey N., Poppe, Bruce, Rodriguez, Gustavo C., Lasset, Christine, Bonadona, Valérie, Mai, Phuong L., Dorkins, Huw, Lubinski, Jan, Glendon, Gord, Holland, Helene, Frénay, Marc, Rebbeck, Timothy R., Hopper, John L., Blok, Marinus J., Offit, Kenneth, Borg, Ake, Lejbkowicz, Flavio, Devilee, Peter, Frost, Debra, Blank, Stephanie V., Kirchhoff, Tomas, Van Asperen, Christi J., Agnarsson, Bjarni A., Foretova, Lenka, Deissler, Helmut, Lindor, Noralane M., Nevanlinna, Heli, Kriege, Mieke, Toland, Amanda Ewart, Gschwantler-Kaulich, Daphne, Rouleau, Etienne, De Pauw, Antoine, Karlan, Beth Y., Goldgar, David, Oliver, Clare, Godwin, Andrew K., Olopade, Olufunmilayo I., Osorio, Ana, Easton, Douglas F., Cohen, Shimrit, Berthet, Pascaline, Tihomirova, Laima, Platte, Radka, Lasa, Adriana, Rookus, Matti, Conroy, Don, Couch, Fergus J., Loustalot, Catherine, Sobol, Hagay, Chenevix-Trench, Georgia, Piedmonte, Marion, Schwartz, Peter E., Imyanitov, Evgeny, Heidemann, Simone, Barile, Monica, Casella, Cinzia, Jnson, Lars, Laitman, Yael, Healey, Sue, Schmutzler, Rita, Cruger, Dorthe, Sunde, Lone, Ding, Yuan Chun, Nogues, Catherine, Dall'Olio, Valentina, Yassin, Yosuf, Antoniou, Antonis C., Leroux, Dominique, Sutter, Christian, Evans, D. Gareth, Huzarski, Tomasz, Daly, Mary B., Pichert, Gabriella, Lochmann, Magdalena, Kast, Karin, Gross, Jenny, Stoppa-Lyonnet, Dominique, Andrulis, Irene L., Melin, Beatrice, Dreyfus, Hélène, Stenmark-Askmalm, Marie, Gerdes, Anne Marie, Boggess, John F., Paterson, Joan, Kennedy, M. John, Thomassen, Mads, Pfeiler, Georg, Basil, Jack, Devlin, Vincent, Tejada, Maria Isabel, Hoogerbrugge, Nicoline, Cook, Margaret, De La Hoya, Miguel, Pankratz, Vernon S., Sucheston, Lara, Radice, Paolo, John, Esther M., Singer, Christian F., Peissel, Bernard, Lynch, Henry T., Varon-Mateeva, Raymonda, Hodgson, Shirley, Durán, Mercedes, Greene, Mark H., Wakeley, Katie, Sinilnikova, Olga M., Dressler, Anne Catharina, Ozcelik, Hilmi, Morrison, Patrick J., Jakubowska, Ania, and Tomlinson, Gail
- Subjects
skin and connective tissue diseases ,3. Good health - Abstract
The known breast cancer (BC) susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1,LSP1 and 2q35 confer increased risks of BC for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of three additional SNPs, rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11 and rs10941679 at 5p12 and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased BC risk for BRCA2 carriers (per-allele Hazard Ratio (HR)=1.10, 95%CI:1.03-1.18, p=0.006 and HR=1.09, 95%CI:1.01-1.19, p=0.03, respectively). Neither SNP was associated with BC risk for BRCA1 carriers and rs6504950 was not associated with BC for either BRCA1 or BRCA2 carriers. Of the nine polymorphisms investigated, seven were associated with BC for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, p-values:7×10−11-0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (p=0.0049, 0.03 respectively). All risk associated polymorphisms appear to interact multiplicatively on BC risk for mutation carriers. Based on the joint genotype distribution of the seven risk associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e. between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing BC by age 80, compared with 42-50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences may be sufficient to influence the clinical management of mutation carriers.
35. Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in The Netherlands.
- Author
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LODDER, L. N., FRETS, P. G., TRIJSBURG, R. W., MEIJERS-HEIJBOER, E. J., KLIJN, J. G. M., and NIERMEIJER, M. F.
- Published
- 2000
36. Psychological factors associated with the intention to choose for risk-reducing mastectomy in family cancer clinic attendees.
- Author
-
van Driel CMG, Oosterwijk JC, Meijers-Heijboer EJ, van Asperen CJ, Zeijlmans van Emmichoven IA, de Vries J, Mourits MJE, Henneman L, Timmermans DRM, and de Bock GH
- Subjects
- Adult, Breast Neoplasms prevention & control, Breast Neoplasms surgery, Cohort Studies, Female, Genes, BRCA1, Genes, BRCA2, Genetic Counseling, Hereditary Breast and Ovarian Cancer Syndrome genetics, Hereditary Breast and Ovarian Cancer Syndrome surgery, Humans, Logistic Models, Multivariate Analysis, Patient Participation, Perception, Risk, Risk Reduction Behavior, Surveys and Questionnaires, Affect, Anxiety psychology, Choice Behavior, Decision Making, Depression psychology, Hereditary Breast and Ovarian Cancer Syndrome psychology, Intention, Prophylactic Mastectomy psychology
- Abstract
Objectives: Women seeking counseling because of familial breast cancer occurrence face difficult decisions, such as whether and when to opt for risk-reducing mastectomy (RRM) in case of BRCA1/2 mutation. Only limited research has been done to identify the psychological factors associated with the decision for RRM. This study investigated which psychological factors are related to the intention to choose for RRM., Materials & Methods: A cohort of 486 cancer-unaffected women with a family history of breast cancer completed the following questionnaires prior to genetic counseling: the Cancer Worry Scale, Positive And Negative Affect Scale, Perceived Personal Control Scale, Hospital Anxiety and Depression Scale and State Anxiety Scale and questions regarding socio-demographic characteristics, family history, risk perception and RRM intention. Multivariate logistic regression was used to analyze the relation between psychological factors and women's intention to choose for RRM., Results: Factors associated with RRM intention were high positive affect (OR = 1.86, 95%CI = 1.12-3.08), high negative affect (OR = 2.52, 95%CI = 1.44-4.43), high cancer worry (OR = 1.65, 95%CI = 1.00-2.72), high perceived personal control (OR = 3.58, 95%CI = 2.18-5.89), high risk-perception (OR = 1.85, 95%CI = 1.15-2.95) and having children (OR = 2.06, 95%CI = 1.21-3.50)., Conclusion: Negative and positive affects play an important role in the intention for RRM. Furthermore, perceived personal control over the situation is associated with an intention for RRM. In addition to focusing on accurate risk communication, counseling should pay attention to the influence of perceived control and emotions to facilitate decision-making., (Copyright © 2016 Elsevier Ltd. All rights reserved.)
- Published
- 2016
- Full Text
- View/download PDF
37. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.
- Author
-
Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G, Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall'Olio V, Peterlongo P, Szabo CI, Zikan M, Claes K, Poppe B, Foretova L, Mai PL, Greene MH, Rennert G, Lejbkowicz F, Glendon G, Ozcelik H, Andrulis IL, Thomassen M, Gerdes AM, Sunde L, Cruger D, Birk Jensen U, Caligo M, Friedman E, Kaufman B, Laitman Y, Milgrom R, Dubrovsky M, Cohen S, Borg A, Jernström H, Lindblom A, Rantala J, Stenmark-Askmalm M, Melin B, Nathanson K, Domchek S, Jakubowska A, Lubinski J, Huzarski T, Osorio A, Lasa A, Durán M, Tejada MI, Godino J, Benitez J, Hamann U, Kriege M, Hoogerbrugge N, van der Luijt RB, van Asperen CJ, Devilee P, Meijers-Heijboer EJ, Blok MJ, Aalfs CM, Hogervorst F, Rookus M, Cook M, Oliver C, Frost D, Conroy D, Evans DG, Lalloo F, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Hodgson S, Morrison PJ, Porteous ME, Walker L, Kennedy MJ, Dorkins H, Peock S, Godwin AK, Stoppa-Lyonnet D, de Pauw A, Mazoyer S, Bonadona V, Lasset C, Dreyfus H, Leroux D, Hardouin A, Berthet P, Faivre L, Loustalot C, Noguchi T, Sobol H, Rouleau E, Nogues C, Frénay M, Vénat-Bouvet L, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D, Singer CF, Dressler AC, Gschwantler-Kaulich D, Pfeiler G, Hansen TV, Jønson L, Agnarsson BA, Kirchhoff T, Offit K, Devlin V, Dutra-Clarke A, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov E, Tihomirova L, Blanco I, Lazaro C, Ramus SJ, Sucheston L, Karlan BY, Gross J, Schmutzler R, Wappenschmidt B, Engel C, Meindl A, Lochmann M, Arnold N, Heidemann S, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Kast K, Schönbuchner I, Caldes T, de la Hoya M, Aittomäki K, Nevanlinna H, Simard J, Spurdle AB, Holland H, Chen X, Platte R, Chenevix-Trench G, and Easton DF
- Subjects
- Adult, Aged, Aged, 80 and over, Alleles, Apoptosis Regulatory Proteins, Breast Neoplasms pathology, Female, Genotype, Heterozygote, High Mobility Group Proteins, Humans, Middle Aged, Polymorphism, Single Nucleotide, Receptors, Progesterone genetics, Risk Assessment, Risk Factors, Sodium-Bicarbonate Symporters genetics, Survival Analysis, Trans-Activators, Vesicular Transport Proteins genetics, BRCA1 Protein genetics, BRCA2 Protein genetics, Breast Neoplasms genetics, Genetic Predisposition to Disease genetics, Mutation
- Abstract
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10(-11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
- Published
- 2010
- Full Text
- View/download PDF
38. Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings.
- Author
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Zwijnenburg PJ, Deurloo KL, Waterham HR, Meijers-Heijboer EJ, van Vugt JM, and Tan-Sindhunata MB
- Subjects
- Adult, Female, Humans, Pregnancy, Pregnancy Trimester, Second, Chondrodysplasia Punctata, Rhizomelic diagnostic imaging, Ultrasonography, Prenatal
- Published
- 2010
- Full Text
- View/download PDF
39. [Preventive surgical prcedures for inherited risk of breast cancer].
- Author
-
Menke-Pluymers MB, Seynaeve C, van Geel AN, Klijn JG, Meijers-Heijboer EJ, and Eggermont AM
- Subjects
- BRCA1 Protein genetics, BRCA2 Protein genetics, Female, Genetic Predisposition to Disease, Humans, Mutation, Risk Factors, Risk Management, Breast Neoplasms genetics, Breast Neoplasms prevention & control, Mastectomy
- Abstract
Preventive surgical procedures for inherited risk of breast cancer Forwomen with a demonstrated BRCA1 or BRCA2 mutation, the cumulative risk of developing invasive breast cancer before the age of 70 years is about 50-85% and the risk of developing invasive epithelial ovarian cancer is 20-60%. Regular surveillance including physical examination and imaging is offered to mutation carriers and the options for risk-reducing surgery are discussed. Although bilateral prophylactic mastectomy is a drastic intervention, it significantly reduces the incidence of breast cancer. For mutation carriers with breast cancer, the decision to combine risk-reducing surgery with treatment is determined by the TNM stage of the disease. Prophylactic bi- or contralateral mastectomy after previous treatment for unilateral breast cancer reduces the incidence of contralateral breast cancer, but has no impact on survival. The complexity of the problem demands a multidisciplinary approach within the context of a family cancer clinic.
- Published
- 2005
40. Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy.
- Author
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Seynaeve C, Verhoog LC, van de Bosch LM, van Geel AN, Menke-Pluymers M, Meijers-Heijboer EJ, van den Ouweland AM, Wagner A, Creutzberg CL, Niermeijer MF, Klijn JG, and Brekelmans CT
- Subjects
- Adult, Aged, Breast Neoplasms genetics, Cohort Studies, Disease-Free Survival, Female, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Humans, Middle Aged, Neoplasm Recurrence, Local, Prognosis, Proportional Hazards Models, Risk Factors, Breast Neoplasms surgery, Mastectomy, Segmental methods, Mutation genetics, Neoplasms, Second Primary
- Abstract
The overall rate of an ipsilateral breast tumour recurrence (IBTR) after breast-conserving therapy (BCT) ranges from 1% to 2% per year. Risk factors include young age but data on the impact of BRCA1/2 mutations or a definite positive family history for breast cancer are scarce. We investigated IBTR after BCT in patients with hereditary breast cancer (HBC). Through our family cancer clinic we identified 87 HBC patients, including 26 BRCA1/2 carriers, who underwent BCT between 1980 and 1995 (cases). They were compared to 174 patients with sporadic breast cancer (controls) also treated with BCT, matched for age and year of diagnosis. Median follow up was 6.1 years for the cases and 6.0 years for controls. Patient and tumour characteristics were similar in both groups. An IBTR was observed in 19 (21.8%) hereditary and 21 (12.1%) sporadic patients. In the hereditary patients more recurrences occurred elsewhere in the breast (21% versus 9.5%), suggestive of new primaries. Overall, the actuarial IBTR rate was similar at 2 years, but higher in hereditary as compared to sporadic patients at 5 years (14% versus 7%) and at 10 years (30% versus 16%) (P=0.05). Post-relapse and overall survival was not different between hereditary and sporadic cases. Hereditary breast cancer was therefore associated with a higher frequency of early (2-5 years) and late (>5 years) local recurrences following BCT. These data suggest an indication for long-term follow up in HBC and should be taken into account when additional 'risk-reducing' surgery after primary BCT is eventually considered.
- Published
- 2004
- Full Text
- View/download PDF
41. Clinical experience of prophylactic mastectomy followed by immediate breast reconstruction in women at hereditary risk of breast cancer (HB(O)C) or a proven BRCA1 and BRCA2 germ-line mutation.
- Author
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Contant CM, Menke-Pluijmers MB, Seynaeve C, Meijers-Heijboer EJ, Klijn JG, Verhoog LC, Tjong Joe Wai R, Eggermont AM, and van Geel AN
- Subjects
- Adult, Breast Neoplasms pathology, Carcinoma genetics, Carcinoma surgery, Female, Follow-Up Studies, Humans, Incidence, Middle Aged, Neoplasm Proteins genetics, Neoplasm Staging, Netherlands epidemiology, Ovarian Neoplasms genetics, Ovarian Neoplasms surgery, Postoperative Complications epidemiology, Postoperative Complications etiology, Postoperative Complications therapy, Risk Factors, Time Factors, Treatment Outcome, Women's Health, Breast Neoplasms genetics, Breast Neoplasms surgery, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Germ-Line Mutation genetics, Mammaplasty, Mastectomy
- Abstract
Aim: Women with a proven BRCA1 or BRCA2 germ-line mutation or with a 50% risk of carrying the mutation, have an increased risk of breast cancer. Regular surveillance, chemoprevention or prophylactic mastectomy (PM) are options to detect breast cancer at an early stage or to reduce the risk. We describe the management of women who have opted for PM, the postoperative complications of PM, especially in combination with immediate breast reconstruction (IBR), and the oncological follow-up., Methods: The medical records of all women who underwent a PM from December 1993 to December 1999 have been reviewed with respect to management, patient characteristics, complications and oncological follow-up., Results: During the study period 112 women with a median age of 38.8 years opted for a PM: 76 were germline mutation carriers. After PM, 79 women without breast or ovarian cancer in their medical history, were free of disease after 2.5 years (median). Before PM, 29 women had been treated for breast cancer, 3.9 years (median) previously; 5 of these women had developed metastatic disease by the last consultation. Before PM, 2 patients had been treated for DCIS and 2 patients for ovarian cancer. Four DCIS were found; none of these women had evidence of disease 4.0 years (median) after PM. In 59 women laparoscopic prophylactic bilateral oophorectomy (PBO) was performed; 36 simultaneously with PM and 23 separately. A total of 103 women (92%) opted for IBR. After PM, the complication rate for IBR was 21%: 11% within 6 weeks and 10% at long-term follow-up (median 3.5) after PM, including the removal of 10 prostheses., Conclusions: Women with an increased risk of breast cancer due to a genetic predisposition should be adequately informed about the different treatment options in the setting of a multidisciplinary approach. PM can simultaneously be combined with PBO and IBR. IBR can facilitate the decision to undergo a PM. PM followed by IBR has an acceptable complication rate.
- Published
- 2002
- Full Text
- View/download PDF
42. Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing.
- Author
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Lodder L, Frets PG, Trijsburg RW, Tibben A, Meijers-Heijboer EJ, Duivenvoorden HJ, Wagner A, van Der Meer CA, Devilee P, Cornelisse CJ, and Niermeijer MF
- Subjects
- Adult, Aged, Anxiety, BRCA1 Protein genetics, BRCA2 Protein, Breast Neoplasms diagnosis, Breast Neoplasms psychology, Depression, Family Health, Female, Genetic Testing methods, Genetic Testing psychology, Humans, Male, Middle Aged, Mutation, Neoplasm Proteins genetics, Ovarian Neoplasms diagnosis, Ovarian Neoplasms psychology, Transcription Factors genetics, Truth Disclosure, Breast Neoplasms genetics, Heterozygote, Ovarian Neoplasms genetics
- Abstract
Males with a BRCA1/BRCA2 mutation are not at greatly increased risk for cancer, whereas their (grand)daughters, and other female relatives who carry the mutation, are. Males from BRCA1/BRCA2 families may opt for genetic testing to confirm whether or not they may have transmitted the mutation to their children and, if so, to inform them at an appropriate age about the genetic risk and its implications. The psychological implications of genetic testing for men at risk of being a BRCA1/BRCA2 mutation carrier have received little attention. We report on 28 men requesting BRCA1 or BRCA2 testing, and their partners. Men were at 25% (n =4) or 50% risk (n =24) of being a mutation carrier, the majority with daughters and half of them with daughters aged over 20 years. Levels of psychological distress were assessed several weeks before and after disclosure of the test result. In addition, we investigated the level of intrusive thoughts and feelings about breast and ovarian cancer and the tendency to avoid these. By means of interviews and questionnaires, participants could report on (expected) emotional implications of genetic testing for themselves and their children, on experiences with cancer in the family and on personality trait optimism. Distress levels prior to the result in tested men and their partners were low. Many men and partners expected the test result to affect their children's, but not their own level of problems. Men without daughters and those with an optimistic personality had especially low distress prior to disclosure. Most men reported that they did not actively avoid the issue. Only four of the 28 men were identified as mutation carriers. High distress after disclosure of the result was reported by one mutation carrier and by three non-mutation carriers. Verbatim transcripts from interviews showed a large variation of psychological reactions in male mutation carriers (eg regarding guilt feelings). Low pre-test distress in males does not necessarily indicate avoidance of the issue. Future studies may indicate which psychological reactions occur in male mutation carriers when the problem becomes more acute, eg when a daughter is found to carry the mutation and/or is diagnosed with breast or ovarian cancer.
- Published
- 2001
- Full Text
- View/download PDF
43. Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk.
- Author
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Brekelmans CT, Seynaeve C, Bartels CC, Tilanus-Linthorst MM, Meijers-Heijboer EJ, Crepin CM, van Geel AA, Menke M, Verhoog LC, van den Ouweland A, Obdeijn IM, and Klijn JG
- Subjects
- Adult, Age Factors, Aged, BRCA2 Protein, Female, Humans, Mammography, Middle Aged, Mutation, Risk, Breast Neoplasms diagnosis, Breast Neoplasms genetics, Genes, BRCA1, Heterozygote, Neoplasm Proteins genetics, Transcription Factors genetics
- Abstract
Purpose: Women with a high breast cancer risk due to a familial predisposition may choose between preventive surgery and regular surveillance. The effectiveness of surveillance in high-risk women and especially BRCA1/2 mutation carriers is unknown. We present first results from a single large family cancer clinic., Patients and Methods: Women with breast cancer risk over 15% were examined by physical examination every 6 months and mammography every year. Detection rates and screening parameters were calculated for the total group and separately for different age and genetic risk groups., Results: At least one examination was performed in 1,198 women: 449 moderate and 621 high-risk women and 128 BRCA1/2 mutation carriers. Within a median follow-up of 3 years, 35 breast cancers were detected (four ductal carcinoma-in-situ; 31 invasive tumors); the average detection rate was 9.7 per 1,000. Detection rates (95% confidence interval) for moderate and high-risk women and BRCA1/2 carriers were 3.3 (1.1 to 8.6), 8.4 (5.4 to 13.2), and 33 (17 to 63) per 1,000 person-years, respectively. The ratio of observed cases versus breast cancers expected in an average-risk population of comparable age was 2.7, 7.0 and 23.7 respectively. Overall, node negativity was 65%; 34% of primary tumors were less than 10 mm; sensitivity was 74%. Results with respect to tumor stage and sensitivity were less favorable in BRCA1/2 carriers and in women under the age of 40., Conclusion: It is possible to identify young women at high risk for breast cancer. The number of cancers detected was significantly greater than expected in an age-matched average-risk population and related to the risk category. Overall, screening parameters were comparable to population screening data, with less favorable results in the youngest age group (< 40) and BRCA1/2 carriers.
- Published
- 2001
- Full Text
- View/download PDF
44. Psychological impact of receiving a BRCA1/BRCA2 test result.
- Author
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Lodder L, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Duivenvoorden HJ, Tibben A, Wagner A, van der Meer CA, van den Ouweland AM, and Niermeijer MF
- Subjects
- Adult, Aged, Analysis of Variance, Anxiety etiology, BRCA2 Protein, Breast Neoplasms diagnosis, Breast Neoplasms genetics, Breast Neoplasms psychology, DNA Mutational Analysis, Depression etiology, Family Health, Female, Humans, Interviews as Topic, Middle Aged, Ovarian Neoplasms diagnosis, Ovarian Neoplasms genetics, Ovarian Neoplasms psychology, Genes, BRCA1, Genetic Testing psychology, Neoplasm Proteins genetics, Transcription Factors genetics
- Abstract
Mutation analysis for autosomal dominant hereditary breast/ovarian cancer genes (BRCA1/BRCA2) became an important technique for women at risk of carrying these mutations. Healthy female mutation carriers have a high lifetime risk for breast and/or ovarian cancer and may opt for frequent breast and ovary surveillance or prophylactic surgery (mastectomy and/or oophorectomy). Psychological distress was assessed in 78 healthy women at risk of having inherited a BRCA1/BRCA2 mutation opting for genetic testing and 56 partners several weeks prior to ("pre-test") and after ("post-test") learning about their DNA test result. Twenty-five women were found to be mutation carriers, and 53 were non-mutation carriers. One goal of the study was to identify individuals at risk for high distress in the weeks following disclosure of the test result. Interview transcripts were used to give a fuller picture of pre- and post-test distress. High post-test anxiety was reported by 20% of the mutation carrier women and by 35% of their partners. Eleven percent of women without the mutation and 13% of their partners reported high post-test anxiety levels. High post-test anxiety in women was significantly related to 1) a high level of pre-test anxiety and 2) being a mutation carrier. Women without a mutation who had a sister identified as a mutation carrier recently had higher post-test levels of depression than the other non-mutation carriers. It is suggested to consider seriously the need for psychological support in mutation carriers who had been anxious at pre-test already. For most non-mutation carriers, psychological follow-up might be of lesser importance, but those having a sister receiving an unfavorable test result should be informed about the possibility that they might not feel relief.
- Published
- 2001
45. Prognostic significance of germline BRCA2 mutations in hereditary breast cancer patients.
- Author
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Verhoog LC, Berns EM, Brekelmans CT, Seynaeve C, Meijers-Heijboer EJ, and Klijn JG
- Subjects
- BRCA2 Protein, Family Health, Germ-Line Mutation, Humans, Medical History Taking, Prognosis, Breast Neoplasms genetics, Breast Neoplasms mortality, Neoplasm Proteins genetics, Transcription Factors genetics
- Abstract
Purpose: Breast cancer in BRCA2 gene mutation carriers differs from BRCA1-associated breast cancer or so-called sporadic breast cancer in clinical features and behavior. These differences may be of importance for the prevention, screening, and ultimately treatment of breast cancer in women with such germline mutations., Methods: We reviewed the few studies that have reported on survival in patients with BRCA2-associated breast cancer. In this article we discuss why family history is no substitute for hereditary breast cancer with regard to studying survival and possible reasons why studies using family history yield contradictory results, why BRCA2-associated breast cancer should be considered a unique entity, and what methodological problems may exist, especially with regard to family-based studies., Results: Five studies have reported on survival in BRCA2-associated breast cancer. Two studies showed a statistically significant worse survival for BRCA2 patients, but the patients from one of these studies were later claimed to have a trend toward better prognosis when controls were matched for age and year of diagnosis. The other study found that the unfavorable prognosis of BRCA2 patients was, to a great extent, due to a worse stage of the disease at time of diagnosis. The remaining three studies showed no significant effect of germline BRCA2 mutations on survival. The numbers of BRCA2 patients investigated in these studies were 42, 20, 23, 28, and 54 patients. Five-year overall survival in these patients varied from 65% to 74%., Conclusion: No definite conclusion can be made with regard to the prognosis of BRCA2-associated breast cancer, but large differences in comparison with sporadic breast cancer are not likely to exist. Breast cancer caused by BRCA2 mutations is also a distinct entity with its own features when compared with BRCA1-associated breast cancer. In contrast with BRCA1-associated breast cancer, BRCA2 tumors tend to be more often steroid receptor-positive.
- Published
- 2000
46. [Hereditary breast and/or ovarian cancer: consequences for family relations].
- Author
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Frets PG, Dudok de Wit AC, Tibben A, Meijers-Heijboer EJ, Klijn JG, and Niermeijer MF
- Subjects
- Adult, Child, Female, Genetic Carrier Screening, Humans, Male, Breast Neoplasms genetics, Breast Neoplasms psychology, Family psychology, Interpersonal Relations, Ovarian Neoplasms genetics, Ovarian Neoplasms psychology
- Published
- 1997
47. Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.
- Author
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Wijnen J, Khan PM, Vasen H, Menko F, van der Klift H, van den Broek M, van Leeuwen-Cornelisse I, Nagengast F, Meijers-Heijboer EJ, Lindhout D, Griffioen G, Cats A, Kleibeuker J, Varesco L, Bertario L, Bisgaard ML, Mohr J, Kolodner R, and Fodde R
- Subjects
- Adaptor Proteins, Signal Transducing, Base Sequence, Carrier Proteins, DNA Primers chemistry, DNA Repair genetics, Electrophoresis, Polyacrylamide Gel, Europe, Exons genetics, Female, Genes, Dominant, Germ-Line Mutation, Humans, Male, Molecular Sequence Data, MutL Protein Homolog 1, MutS Homolog 2 Protein, Mutation, Nuclear Proteins, Pedigree, Polymerase Chain Reaction, Proto-Oncogene Proteins genetics, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, DNA-Binding Proteins, Neoplasm Proteins genetics
- Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant cancer susceptibility condition. Inherited mutations in at least four DNA mismatch repair genes, hMSH2, hMLH1, hPMS1, and hPMS2, are known to cause HNPCC. In this study we used denaturing gradient gel electrophoresis (DGGE) to screen for hMLH1 mutations in 34 unrelated HNPCC families (30 Dutch, 3 Italian, and 1 Danish). Ten novel pathogenic germ-line mutations (seven affecting splice sites, two frameshifts, and one in-frame deletion of a single amino acid) have been identified in 12 (35%) of these families. In a previous study, hMSH2 mutations were found in 21% of the same families. While the spectrum of mutations at the hMSH2 gene among HNPCC patients appears heterogeneous, a cluster of hMLH1 mutations has been found in the region encompassing exons 15 and 16, which accounts for 50% of all the independent hMLH1 mutations described to date and for > 20% of the unrelated HNPCC kindreds here analyzed. This unexpected finding has a great practical value in the clinical scenario of genetic services.
- Published
- 1996
48. Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
- Author
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Taschner PE, de Vos N, Post JG, Meijers-Heijboer EJ, Hofman I, Loonen MC, Pinckers AJ, Bleeker-Wagemakers EM, Gardiner RM, and Breuning MH
- Subjects
- Alleles, Chromosome Mapping, Female, Genetic Markers, Humans, Inbreeding, Linkage Disequilibrium, Male, Netherlands, Neuronal Ceroid-Lipofuscinoses diagnosis, Neuronal Ceroid-Lipofuscinoses epidemiology, Pedigree, Polymorphism, Genetic, Probability, Reproducibility of Results, Risk Factors, Chromosomes, Human, Pair 16, Genetic Carrier Screening, Neuronal Ceroid-Lipofuscinoses genetics
- Abstract
Batten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to an early death. The CLN3 locus which is involved in Batten disease had been localized to chromosome 16p11.2. Linkage disequilibrium has been observed between CLN3 and polymorphic microsatellite markers D16S288, D16S299, and D16S298, making carrier detection and prenatal diagnosis by haplotype analysis possible. For the purpose of carrier detection, haplotypes from Dutch Batten patients and their families were constructed. Most patients share the same D16S298 allele, suggesting the presence of a founder effect in the Dutch population. In a large inbred Dutch family, in which Batten disease occurs with high frequency, haplotype analysis has been carried out with high accuracy for carrier detection.
- Published
- 1995
- Full Text
- View/download PDF
49. [Initial Dutch results with a presymptomatic DNA tests in familial breast/ovarian carcinoma. Rotterdamse Werkgroep voor Erfelijke Tumoren].
- Author
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Klijn JG, Devilee P, van Geel AN, Tilanus-Linthorst MM, Dudok-de Wit C, and Meijers-Heijboer EJ
- Subjects
- Adult, Aged, Breast Neoplasms diagnosis, Decision Making, Female, Genetic Markers, Genetic Predisposition to Disease, Humans, Middle Aged, Mutation, Ovarian Neoplasms diagnosis, Pedigree, Breast Neoplasms genetics, DNA, Neoplasm genetics, Ovarian Neoplasms genetics
- Abstract
Recent discoveries in the field of molecular-genetic research make it possible to detect an increased genetic risk of tumours, because several genes are linked to hereditary forms of breast cancer. The breast cancer gene BRCA1, located on chromosome 17q, is quantitatively the most important gene so far. A BRCA1 gene mutation is estimated to occur in 1-3 per 1000 women in the general population, i.e. in about 10,000 women among the 4 million Dutch women aged 25-55 years. In this study experiences are described concerning oncologic, clinical-genetic and psychologic aspects in the first Dutch family in which a BRCA1-gene defect was detected with the corresponding hereditary breast/ovarian cancer syndrome. Of the relatives 88% participated in the genetic family study and 76% wished to be informed on the individual DNA-test results. From the first-degree relatives of the breast cancer patients 54% appeared to be gene mutation carrier. The detection of a gene mutation in a woman could make her decide to undergo preventive mastectomy and (or) ovariectomy, besides regular breast examination and mammography. Surgeons and radiotherapists, the group of doctors who treat primary breast cancer, have to anticipate more radical operations with regard to breasts in this selected group of (future) patients. Detection of the gene may also have consequences for family planning. Identification of carriers of the gene mutation can lead to a selection of women with increased risk of breast cancer. Primary or secondary preventive measures, early diagnostic management and regular examination may lead to a decrease in death from breast cancer.
- Published
- 1995
50. [Cloning of the first gene for breast/ovarian cancer (BRCA1), mapping of a second gene locus (BRCA2) and consequences for clinical practice].
- Author
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Oosterwijk JC, Devilee P, Meijers-Heijboer EJ, Menko FH, Klijn JG, and Cornelisse CJ
- Subjects
- Breast Neoplasms, Male genetics, Chromosome Mapping, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 17, Female, Genetic Linkage, Genetic Markers, Humans, Male, Breast Neoplasms genetics, Ovarian Neoplasms genetics
- Published
- 1995
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