Search Results - "Van Asperen, Christi J."

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis by van der Werf't Lam, Anne-Sophie, Helderman, Noah C., Boot, Arnoud, Terlouw, Diantha, Morreau, Hans, Mei, Hailian, Esveldt-van Lange, Rebecca E.E., Lakeman, Inge M.M., van Asperen, Christi J., Aten, Emmelien, Hofland, Nandy, de Koning Gans, Pia A.M., Rayner, Emily, Tops, Carli, de Wind, Niels, van Wezel, Tom, Nielsen, Maartje

“…Functional analyses are the main method to classify mismatch repair (MMR) gene variants of uncertain significance (VUSs). However, the pathogenicity remains…”
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Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? by Sun, Yu, Ruivenkamp, Claudia A.L., Hoffer, Mariëtte J.V., Vrijenhoek, Terry, Kriek, Marjolein, van Asperen, Christi J., den Dunnen, Johan T., Santen, Gijs W.E.

“…ABSTRACT Although the benefits of next‐generation sequencing (NGS) for the diagnosis of heterogeneous diseases such as intellectual disability (ID) are…”
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The functional impact of variants of uncertain significance in BRCA2 by Mesman, Romy L. S., Calléja, Fabienne M. G. R., Hendriks, Giel, Morolli, Bruno, Misovic, Branislav, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.

“…Purpose Genetic testing has uncovered large numbers of variants in the BRCA2 gene for which the clinical significance is unclear. Cancer risk prediction of…”
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Germline BRCA -Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity by de Jonge, Marthe M, Ritterhouse, Lauren L, de Kroon, Cornelis D, Vreeswijk, Maaike P G, Segal, Jeremy P, Puranik, Rutika, Hollema, Harry, Rookus, Matti A, van Asperen, Christi J, van Leeuwen, Flora E, Smit, Vincent T H B M, Howitt, Brooke E, Bosse, Tjalling

“…Whether endometrial carcinoma (EC) should be considered part of the associated hereditary breast and ovarian cancer (HBOC) syndrome is topic of debate. We…”
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Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study by Heemskerk-Gerritsen, Bernadette A. M, Hollestelle, Antoinette, van Asperen, Christi J, van den Beek, Irma, van Driel, Willemien J, van Engelen, Klaartje, Gómez Garcia, Encarna B, de Hullu, Joanne A, Koudijs, Marco J, Mourits, Marian J. E, Hooning, Maartje J, Boere, Ingrid A

“…Introduction Germline BRCA1/2-associated epithelial ovarian cancer has been associated with better progression-free survival and overall survival than sporadic…”
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Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles by Gracia-Aznarez, Francisco Javier, Fernandez, Victoria, Pita, Guillermo, Peterlongo, Paolo, Dominguez, Orlando, de la Hoya, Miguel, Duran, Mercedes, Osorio, Ana, Moreno, Leticia, Gonzalez-Neira, Anna, Rosa-Rosa, Juan Manuel, Sinilnikova, Olga, Mazoyer, Sylvie, Hopper, John, Lazaro, Conchi, Southey, Melissa, Odefrey, Fabrice, Manoukian, Siranoush, Catucci, Irene, Caldes, Trinidad, Lynch, Henry T, Hilbers, Florentine S M, van Asperen, Christi J, Vasen, Hans F A, Goldgar, David, Radice, Paolo, Devilee, Peter, Benitez, Javier

“…The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustained effort to uncover new…”
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Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction by Tüchler, Anja, De Pauw, Antoine, Ernst, Corinna, Anota, Amélie, Lakeman, Inge M.M., Dick, Julia, van der Stoep, Nienke, van Asperen, Christi J., Maringa, Monika, Herold, Natalie, Blümcke, Britta, Remy, Robert, Westerhoff, Anke, Stommel-Jenner, Denise J., Frouin, Eléonore, Richters, Lisa, Golmard, Lisa, Kütting, Nadine, Colas, Chrystelle, Wappenschmidt, Barbara, Rhiem, Kerstin, Devilee, Peter, Stoppa-Lyonnet, Dominique, Schmutzler, Rita K., Hahnen, Eric

“…Breast cancer (BC) risk prediction models consider cancer family history (FH) and germline pathogenic variants (PVs) in risk genes. It remains elusive to what…”
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Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands – Hebon-CHEK2 by Schreurs, Maartje A.C., Adank, Muriel A, Hollestelle, Antoinette, de Groot, Rosa, Stommel-Jenner, Denise J, Van Asperen, Christi J., Ausems, Margreet G.E.M., Berger, Lieke P V, Blok, Marinus J, van Engelen, Klaartje, Hogervorst, Frans B L, Geurts-Giele, Willemina, Gille, Johan J P, Wevers, Marijke R, Schmidt, Marjanka K, Hooning, Maartje J.

“…PurposeCHEK2 c.1100delC is associated with an increased breast cancer risk in women. While this variant is prevalent in the Netherlands (1% in the general…”
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Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study by Akdeniz, Delal, van Barele, Mark, Heemskerk-Gerritsen, Bernadette A.M., Steyerberg, Ewout W., Hauptmann, Michael, van de Beek, Irma, van Engelen, Klaartje, Wevers, Marijke R., Gómez García, Encarnacion B., Ausems, Margreet G.E.M., Berger, Lieke P.V., van Asperen, Christi J., Adank, Muriel A., Collée, Margriet J., Stommel-Jenner, Denise J., Jager, Agnes, Schmidt, Marjanka K., Hooning, Maartje J.

“…BRCA1/2 mutation carriers with primary breast cancer (PBC) are at high risk of contralateral breast cancer (CBC). In a nationwide cohort, we investigated the…”
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Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 by Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies by Gonzalez-Neira, Anna, Rosa-Rosa, Juan Manuel, Osorio, Ana, Gonzalez, Emilio, Southey, Melissa, Sinilnikova, Olga, Lynch, Henry, Oldenburg, Rogier A, van Asperen, Christi J, Hoogerbrugge, Nicoline, Pita, Guillermo, Devilee, Peter, Goldgar, David, Benitez, Javier

“…The recent development of new high-throughput technologies for SNP genotyping has opened the possibility of taking a genome-wide linkage approach to the search…”
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Do Preferred Risk Formats Lead to Better Understanding? A Multicenter Controlled Trial on Communicating Familial Breast Cancer Risks Using Different Risk Formats by Henneman, Lidewij, van Asperen, Christi J, Oosterwijk, Jan C, Menko, Fred H, Claassen, Liesbeth, Timmermans, Daniëlle Rm

“…Counselees' preferences are considered important for the choice of risk communication format and for improving patient-centered care. We here report on…”
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Effectiveness and cost-effectiveness of meaning-centered group psychotherapy in cancer survivors: protocol of a randomized controlled trial by van der Spek, Nadia, Vos, Joël, van Uden-Kraan, Cornelia F, Breitbart, William, Cuijpers, Pim, Knipscheer-Kuipers, Kitty, Willemsen, Vincent, Tollenaar, Rob A E M, van Asperen, Christi J, Verdonck-de Leeuw, Irma M

“…Meaning-focused coping may be at the core of adequate adjustment to life after cancer. Cancer survivors who experience their life as meaningful are better…”
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CHEK21100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer by Huijts, Petra E A, Hollestelle, Antoinette, Balliu, Brunilda, Houwing-Duistermaat, Jeanine J, Meijers, Caro M, Blom, Jannet C, Ozturk, Bahar, Krol-Warmerdam, Elly M M, Wijnen, Juul, Berns, Els M J J, Martens, John W M, Seynaeve, Caroline, Kiemeney, Lambertus A, van der Heijden, Henricus F, Tollenaar, Rob A E M, Devilee, Peter, van Asperen, Christi J

“…The 1100delC mutation in the CHEK2 gene has a carrier frequency of up to 1.5% in individuals from North-West Europe. Women heterozygous for 1100delC have an…”
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Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling by Hilbers, Florentine S, Meijers, Caro M, Laros, Jeroen F J, van Galen, Michiel, Hoogerbrugge, Nicoline, Vasen, Hans F A, Nederlof, Petra M, Wijnen, Juul T, van Asperen, Christi J, Devilee, Peter

“…The bulk of familial breast cancer risk (∼70%) cannot be explained by mutations in the known predisposition genes, primarily BRCA1 and BRCA2. Underlying…”
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Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk by Tilanus‐Linthorst, Madeleine M.A., Lingsma, Hester F., Evans, D. Gareth, Thompson, Deborah, Kaas, Reinoutje, Manders, Peggy, Asperen, Christi J., Adank, Muriel, Hooning, Maartje J., Kwan Lim, Gek E., Eeles, Rosalind, Oosterwijk, Jan C., Leach, Martin O., Steyerberg, Ewout W.

“…Women from high‐risk families consider preventive measures for breast cancer including screening. Guidelines on screening differ considerably regarding…”
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Clinical Characteristics Affect the Impact of an Uninformative DNA Test Result: The Course of Worry and Distress Experienced by Women Who Apply for Genetic Testing for Breast Cancer by VAN DIJK, Sandra, TIMMERMANS, Daniëlle R. M, MEIJERS-HEIJBOER, Hanne, TIBBEN, Aad, VAN ASPEREN, Christi J, OTTEN, Wilma

“…DNA mutation testing for breast cancer usually yields an uninformative result, which is a negative result in the absence of a known BRCA mutation within the…”
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Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making by Reumkens, Kelly, Tummers, Marly H. E., Severijns, Yil, Gietel-Habets, Joyce J. G., van Kuijk, Sander M. J., Aalfs, Cora M., van Asperen, Christi J., Ausems, Margreet G. E. M., Collée, Margriet, Dommering, Charlotte J., Kets, Marleen, van der Kolk, Lizet E., Oosterwijk, Jan C., Tjan-Heijnen, Vivianne C. G., van der Weijden, Trudy, de Die-Smulders, Christine E. M., van Osch, Liesbeth A. D. M.

“…Individuals having a genetic predisposition to cancer and their partners face challenging decisions regarding their wish to have children. This study aimed to…”
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Allele-specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10 by Huijts, Petra E A, van Dongen, Minka, de Goeij, Moniek C M, van Moolenbroek, Adrian J, Blanken, Freek, Vreeswijk, Maaike P G, de Kruijf, Esther M, Mesker, Wilma E, van Zwet, Erik W, Tollenaar, Rob A E M, Smit, Vincent T H B M, van Asperen, Christi J, Devilee, Peter

“…SNPs rs2981582 and rs2981578, located in a linkage disequilibrium block (LD block) within intron 2 of the fibroblast growth factor receptor 2 gene (FGFR2), are…”
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A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example by Mohammadi, Leila, Vreeswijk, Maaike P, Oldenburg, Rogier, van den Ouweland, Ans, Oosterwijk, Jan C, van der Hout, Annemarie H, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn, Ausems, Margreet G, van der Luijt, Rob B, Dommering, Charlotte J, Gille, Johan J, Verhoef, Senno, Hogervorst, Frans B, van Os, Theo A, Gómez García, Encarna, Blok, Marinus J, Wijnen, Juul T, Helmer, Quinta, Devilee, Peter, van Asperen, Christi J, van Houwelingen, Hans C

“…Assessment of the clinical significance of unclassified variants (UVs) identified in BRCA1 and BRCA2 is very important for genetic counselling. The analysis of…”
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