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2. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L, Fox, Stephen, Karlan, Beth Y, Mitchell, Gillian, James, Paul, Thull, Darcy L, Zorn, Kristin K, Carter, Natalie J, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Ramus, Susan J, Nussbaum, Robert L, Olopade, Olufunmilayo I, Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L, Glendon, Gord, Hulick, Peter J, Imyanitov, Evgeny N, Greene, Mark H, Mai, Phuong L, Singer, Christian F, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J, Hallberg, Emily, Ruddy, Kathryn J, Sharma, Priyanka, Kim, Sung-Won, kConFab Investigators, Teixeira, Manuel R, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen BM, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K, Evans, D Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, and Platte, Radka

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Neoplasm Staging, Polymorphism, Single Nucleotide, Male breast cancer, BRCA1/2, Pathology, Histologic grade, Genotype-phenotype correlations, kConFab Investigators, Hereditary Breast and Ovarian Cancer Research Group Netherlands, EMBRACE, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundBRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs).MethodsWe characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database.ResultsAmong BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10(-12)).ConclusionsOn the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.

Published
2016

3. An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

Author

Madorsky-Feldman, Dana, Sklair-Levy, Miri, Perri, Tamar, Laitman, Yael, Paluch-Shimon, Shani, Schmutzler, Rita, Rhiem, Kerstin, Lester, Jenny, Karlan, Beth Y, Singer, Christian F, Van Maerken, Tom, Claes, Kathleen, Brunet, Joan, Izquierdo, Angel, Teulé, Alex, Lee, Jong Won, Kim, Sung-Won, Arun, Banu, Jakubowska, Anna, Lubinski, Jan, Tucker, Katherine, Poplawski, Nicola K, Varesco, Liliana, Bonelli, Luigina Ada, Buys, Saundra S, Mitchell, Gillian, Tischkowitz, Marc, Gerdes, Anne-Marie, Seynaeve, Caroline, Robson, Mark, Kwong, Ava, Tung, Nadine, Tessa, Nalven, Domchek, Susan M, Godwin, Andrew K, Rantala, Johanna, Arver, Brita, and Friedman, Eitan

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Ovarian Cancer, Biomedical Imaging, Clinical Research, Rare Diseases, Breast Cancer, Prevention, Adult, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Evidence-Based Medicine, Female, Humans, Magnetic Resonance Imaging, Mutation, Ovarian Neoplasms, Practice Guidelines as Topic, Prophylactic Mastectomy, Prophylactic Surgical Procedures, Prospective Studies, Surveys and Questionnaires, Young Adult, BRCA1/BRCA2 mutation carriers, High-risk women, Early detection, Risk-reducing surgery, Surveillance schemes, Clinical Sciences, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract

Female BRCA1/BRCA2 mutation carriers are at substantially increased risk for developing breast and/or ovarian cancer, and are offered enhanced surveillance including screening from a young age and risk-reducing surgery (RRS)-mastectomy (RRM) and/or salpingo-oophorectomy (RRSO). While there are established guidelines for early detection of breast cancer in high-risk women who have not undergone RRM, there are less developed guidelines after RRM. We evaluated the schemes offered before and after RRS in internationally diverse high-risk clinics. An e-mailed survey was distributed to high-risk clinics affiliated with CIMBA. Overall, 22 centers from 16 countries responded. Pre RRS surveillance schemes overwhelmingly included breast imaging (primarily MRI) from 18 to 30 years and clinical breast exam (CBE) at 6-12 month intervals. For ovarian cancer, all but 6 centers offered semiannual/annual gynecological exam, transvaginal ultrasound, and CA 125 measurements. Post RRM, most centers offered only annual CBE while 4 centers offered annual MRI, primarily for substantial residual breast tissue. After RRSO only 4 centers offered specific gynecological surveillance. Existing guidelines for breast/ovarian cancer detection in BRCA carriers are being applied pre RRS but are not globally harmonized, and most centers offer no specific surveillance post RRS. From this comprehensive multinational study it is clear that evidence-based, long-term prospective data on the most effective scheme for BRCA carriers post RRS is needed.

Published
2016

4. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Author

Blanco, Ignacio, Kuchenbaecker, Karoline, Cuadras, Daniel, Wang, Xianshu, Barrowdale, Daniel, de Garibay, Gorka, Librado, Pablo, Sánchez-Gracia, Alejandro, Rozas, Julio, Bonifaci, Núria, McGuffog, Lesley, Pankratz, Vernon, Islam, Abul, Mateo, Francesca, Berenguer, Antoni, Petit, Anna, Català, Isabel, Brunet, Joan, Feliubadaló, Lidia, Tornero, Eva, Benítez, Javier, Osorio, Ana, Ramón y Cajal, Teresa, Nevanlinna, Heli, Aittomäki, Kristiina, Arun, Banu, Toland, Amanda, Karlan, Beth, Walsh, Christine, Lester, Jenny, Greene, Mark, Mai, Phuong, Nussbaum, Robert, Andrulis, Irene, Domchek, Susan, Nathanson, Katherine, Rebbeck, Timothy, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Claes, Kathleen, Van Maerken, Tom, Díez, Orland, Hansen, Thomas, Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, de la Hoya, Miguel, Caldés, Trinidad, Dunning, Alison, Oliver, Clare, Fineberg, Elena, Cook, Margaret, Peock, Susan, McCann, Emma, Murray, Alex, Jacobs, Chris, Pichert, Gabriella, Lalloo, Fiona, Chu, Carol, Dorkins, Huw, Paterson, Joan, Ong, Kai-Ren, Teixeira, Manuel, Hogervorst, Frans, van der Hout, Annemarie, Seynaeve, Caroline, van der Luijt, Rob, Ligtenberg, Marjolijn, Devilee, Peter, Wijnen, Juul, Rookus, Matti, Meijers-Heijboer, Hanne, Blok, Marinus, van den Ouweland, Ans, Aalfs, Cora, Rodriguez, Gustavo, Phillips, Kelly-Anne, Piedmonte, Marion, Nerenstone, Stacy, Bae-Jump, Victoria, OMalley, David, Ratner, Elena, Schmutzler, Rita, Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, and Varon-Mateeva, Raymonda

Subjects
Aurora Kinase A, Breast Neoplasms, Carcinogenesis, Cell Cycle Proteins, Estrogen Receptor alpha, Evolution, Molecular, Extracellular Matrix Proteins, Female, Genes, BRCA1, Genes, BRCA2, Genetic Loci, Genetic Predisposition to Disease, Humans, Hyaluronan Receptors, Likelihood Functions, Mammary Glands, Human, Microtubule-Associated Proteins, Mutation, Nuclear Proteins, Polymorphism, Single Nucleotide, Retrospective Studies, Tubulin
Abstract

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04-1.15, p = 1.9 x 10(-4) (false discovery rate (FDR)-adjusted p = 0.043). Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03-1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted pinteraction values > 0.05) for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers.

Published
2015

5. Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Peterlongo, Paolo, Chang-Claude, Jenny, Moysich, Kirsten B, Rudolph, Anja, Schmutzler, Rita K, Simard, Jacques, Soucy, Penny, Eeles, Rosalind A, Easton, Douglas F, Hamann, Ute, Wilkening, Stefan, Chen, Bowang, Rookus, Matti A, Schmidt, Marjanka K, van der Baan, Frederieke H, Spurdle, Amanda B, Walker, Logan C, Lose, Felicity, Maia, Ana-Teresa, Montagna, Marco, Matricardi, Laura, Lubinski, Jan, Jakubowska, Anna, Garcia, Encarna B Gómez, Olopade, Olufunmilayo I, Nussbaum, Robert L, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Arun, Banu K, Karlan, Beth Y, Orsulic, Sandra, Lester, Jenny, Chung, Wendy K, Miron, Alex, Southey, Melissa C, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Ding, Yuan Chun, Neuhausen, Susan L, Hansen, Thomas VO, Gerdes, Anne-Marie, Ejlertsen, Bent, Jønson, Lars, Osorio, Ana, Martínez-Bouzas, Cristina, Benitez, Javier, Conway, Edye E, Blazer, Kathleen R, Weitzel, Jeffrey N, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Barile, Monica, Ficarazzi, Filomena, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Giannini, Giuseppe, Papi, Laura, Martayan, Aline, Tibiletti, Maria Grazia, Radice, Paolo, Vratimos, Athanassios, Fostira, Florentia, Garber, Judy E, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D Gareth R, Frost, Debra, Eccles, Diana, Brady, Angela, Cook, Jackie, Tischkowitz, Marc, Adlard, Julian, Barwell, Julian, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Platte, Radka, Davidson, Rosemarie, Hodgson, Shirley V, Ellis, Steve, Cole, Trevor, behalf of EMBRACE, on, Godwin, Andrew K, Claes, Kathleen, Van Maerken, Tom, Meindl, Alfons, Gehrig, Andrea, and Sutter, Christian

Subjects
Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Cancer, Women's Health, Rare Diseases, Human Genome, Breast Cancer, Genetic Testing, Prevention, Genetics, Ovarian Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Breast Neoplasms, Cohort Studies, Female, Genes, BRCA1, Genes, BRCA2, Humans, Mutation, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Retrospective Studies, Young Adult, EMBRACE, GEMO Study Collaborators, HEBON, KConFab Investigators, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundBRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants in many candidate modifier genes.MethodsGenotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n = 3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysis was performed within a retrospective cohort approach.ResultsThe observed P values of association ranged between 0.005 and 1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments.ConclusionThere is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers.ImpactGenome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies.

Published
2015

8. ALK positively regulates MYCN activity through repression of HBP1 expression

Author

Claeys, Shana, Denecker, Geertrui, Durinck, Kaat, Decaesteker, Bieke, Mus, Liselot M., Loontiens, Siebe, Vanhauwaert, Suzanne, Althoff, Kristina, Wigerup, Caroline, Bexell, Daniel, Dolman, Emmy, Henrich, Kai-Oliver, Wehrmann, Lea, Westerhout, Ellen M., Demoulin, Jean-Baptiste, Kumps, Candy, Van Maerken, Tom, Laureys, Genevieve, Van Neste, Christophe, De Wilde, Bram, De Wever, Olivier, Westermann, Frank, Versteeg, Rogier, Molenaar, Jan J., Påhlman, Sven, Schulte, Johannes H., De Preter, Katleen, and Speleman, Frank

Published
2019
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14. Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Peterlongo, Paolo, primary, Chang-Claude, Jenny, primary, Moysich, Kirsten B., primary, Rudolph, Anja, primary, Schmutzler, Rita K., primary, Simard, Jacques, primary, Soucy, Penny, primary, Eeles, Rosalind A., primary, Easton, Douglas F., primary, Hamann, Ute, primary, Wilkening, Stefan, primary, Chen, Bowang, primary, Rookus, Matti A., primary, Schmidt, Marjanka K., primary, van der Baan, Frederieke H., primary, Spurdle, Amanda B., primary, Walker, Logan C., primary, Lose, Felicity, primary, Maia, Ana-Teresa, primary, Montagna, Marco, primary, Matricardi, Laura, primary, Lubinski, Jan, primary, Jakubowska, Anna, primary, Gómez Garcia, Encarna B., primary, Olopade, Olufunmilayo I., primary, Nussbaum, Robert L., primary, Nathanson, Katherine L., primary, Domchek, Susan M., primary, Rebbeck, Timothy R., primary, Arun, Banu K., primary, Karlan, Beth Y., primary, Orsulic, Sandra, primary, Lester, Jenny, primary, Chung, Wendy K., primary, Miron, Alex, primary, Southey, Melissa C., primary, Goldgar, David E., primary, Buys, Saundra S., primary, Janavicius, Ramunas, primary, Dorfling, Cecilia M., primary, van Rensburg, Elizabeth J., primary, Ding, Yuan Chun, primary, Neuhausen, Susan L., primary, Hansen, Thomas V.O., primary, Gerdes, Anne-Marie, primary, Ejlertsen, Bent, primary, Jønson, Lars, primary, Osorio, Ana, primary, Martínez-Bouzas, Cristina, primary, Benitez, Javier, primary, Conway, Edye E., primary, Blazer, Kathleen R., primary, Weitzel, Jeffrey N., primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Scuvera, Giulietta, primary, Barile, Monica, primary, Ficarazzi, Filomena, primary, Mariette, Frederique, primary, Fortuzzi, Stefano, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Papi, Laura, primary, Martayan, Aline, primary, Tibiletti, Maria Grazia, primary, Radice, Paolo, primary, Vratimos, Athanassios, primary, Fostira, Florentia, primary, Garber, Judy E., primary, Donaldson, Alan, primary, Brewer, Carole, primary, Foo, Claire, primary, Evans, D. Gareth R., primary, Frost, Debra, primary, Eccles, Diana, primary, Brady, Angela, primary, Cook, Jackie, primary, Tischkowitz, Marc, primary, Adlard, Julian, primary, Barwell, Julian, primary, Walker, Lisa, primary, Izatt, Louise, primary, Side, Lucy E., primary, Kennedy, M. John, primary, Rogers, Mark T., primary, Porteous, Mary E., primary, Morrison, Patrick J., primary, Platte, Radka, primary, Davidson, Rosemarie, primary, Hodgson, Shirley V., primary, Ellis, Steve, primary, Cole, Trevor, primary, Godwin, Andrew K., primary, Claes, Kathleen, primary, Van Maerken, Tom, primary, Meindl, Alfons, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Engel, Christoph, primary, Niederacher, Dieter, primary, Steinemann, Doris, primary, Plendl, Hansjoerg, primary, Kast, Karin, primary, Rhiem, Kerstin, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Varon-Mateeva, Raymonda, primary, Wappenschmidt, Barbara, primary, Wang-Gohrke, Shan, primary, Bressac-de Paillerets, Brigitte, primary, Buecher, Bruno, primary, Delnatte, Capucine, primary, Houdayer, Claude, primary, Stoppa-Lyonnet, Dominique, primary, Damiola, Francesca, primary, Coupier, Isabelle, primary, Barjhoux, Laure, primary, Venat-Bouvet, Laurence, primary, Golmard, Lisa, primary, Boutry-Kryza, Nadia, primary, Sinilnikova, Olga M., primary, Caron, Olivier, primary, Pujol, Pascal, primary, Mazoyer, Sylvie, primary, Belotti, Muriel, primary, Piedmonte, Marion, primary, Friedlander, Michael L., primary, Rodriguez, Gustavo C., primary, Copeland, Larry J., primary, de la Hoya, Miguel, primary, Segura, Pedro Perez, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, van der Hout, Annemarie H., primary, Vreeswijk, Maaike P.G., primary, Hoogerbrugge, Nicoline, primary, Ausems, Margreet G.E.M., primary, van Doorn, Helena C., primary, Collée, J. Margriet, primary, Olah, Edith, primary, Diez, Orland, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Feliubadalo, Lidia, primary, Cybulski, Cezary, primary, Gronwald, Jacek, primary, Durda, Katarzyna, primary, Jaworska-Bieniek, Katarzyna, primary, Sukiennicki, Grzegorz, primary, Arason, Adalgeir, primary, Chiquette, Jocelyne, primary, Teixeira, Manuel R., primary, Olswold, Curtis, primary, Couch, Fergus J., primary, Lindor, Noralane M., primary, Wang, Xianshu, primary, Szabo, Csilla I., primary, Offit, Kenneth, primary, Corines, Marina, primary, Jacobs, Lauren, primary, Robson, Mark E., primary, Zhang, Liying, primary, Joseph, Vijai, primary, Berger, Andreas, primary, Singer, Christian F., primary, Rappaport, Christine, primary, Kaulich, Daphne Geschwantler, primary, Pfeiler, Georg, primary, Tea, Muy-Kheng M., primary, Phelan, Catherine M., primary, Greene, Mark H., primary, Mai, Phuong L., primary, Rennert, Gad, primary, Mulligan, Anna Marie, primary, Glendon, Gord, primary, Tchatchou, Sandrine, primary, Andrulis, Irene L., primary, Toland, Amanda Ewart, primary, Bojesen, Anders, primary, Pedersen, Inge Sokilde, primary, Thomassen, Mads, primary, Jensen, Uffe Birk, primary, Laitman, Yael, primary, Rantala, Johanna, primary, von Wachenfeldt, Anna, primary, Ehrencrona, Hans, primary, Askmalm, Marie Stenmark, primary, Borg, Åke, primary, Kuchenbaecker, Karoline B., primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Healey, Sue, primary, Lee, Andrew, primary, Pharoah, Paul D.P., primary, Chenevix-Trench, Georgia, primary, Antoniou, Antonis C., primary, and Friedman, Eitan, primary

Published
2023
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15. Supplementary Table 1 from Meta-analysis of Neuroblastomas Reveals a Skewed ALK Mutation Spectrum in Tumors with MYCN Amplification

Author

De Brouwer, Sara, primary, De Preter, Katleen, primary, Kumps, Candy, primary, Zabrocki, Piotr, primary, Porcu, Michaël, primary, Westerhout, Ellen M., primary, Lakeman, Arjan, primary, Vandesompele, Jo, primary, Hoebeeck, Jasmien, primary, Van Maerken, Tom, primary, De Paepe, Anne, primary, Laureys, Geneviève, primary, Schulte, Johannes H., primary, Schramm, Alexander, primary, Van Den Broecke, Caroline, primary, Vermeulen, Joëlle, primary, Van Roy, Nadine, primary, Beiske, Klaus, primary, Renard, Marleen, primary, Noguera, Rosa, primary, Delattre, Olivier, primary, Janoueix-Lerosey, Isabelle, primary, Kogner, Per, primary, Martinsson, Tommy, primary, Nakagawara, Akira, primary, Ohira, Miki, primary, Caron, Huib, primary, Eggert, Angelika, primary, Cools, Jan, primary, Versteeg, Rogier, primary, and Speleman, Frank, primary

Published
2023
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16. Supplemental Data 10 from Upregulation of MAPK Negative Feedback Regulators and RET in Mutant ALK Neuroblastoma: Implications for Targeted Treatment

Author

Lambertz, Irina, primary, Kumps, Candy, primary, Claeys, Shana, primary, Lindner, Sven, primary, Beckers, Anneleen, primary, Janssens, Els, primary, Carter, Daniel R., primary, Cazes, Alex, primary, Cheung, Belamy B., primary, De Mariano, Marilena, primary, De Bondt, An, primary, De Brouwer, Sara, primary, Delattre, Olivier, primary, Gibbons, Jay, primary, Janoueix-Lerosey, Isabelle, primary, Laureys, Geneviève, primary, Liang, Chris, primary, Marchall, Glenn M., primary, Porcu, Michael, primary, Takita, Junko, primary, Trujillo, David Camacho, primary, Van Den Wyngaert, Ilse, primary, Van Roy, Nadine, primary, Van Goethem, Alan, primary, Van Maerken, Tom, primary, Zabrocki, Piotr, primary, Cools, Jan, primary, Schulte, Johannes H., primary, Vialard, Jorge, primary, Speleman, Frank, primary, and De Preter, Katleen, primary

Published
2023
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17. Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Peterlongo, Paolo, primary, Chang-Claude, Jenny, primary, Moysich, Kirsten B., primary, Rudolph, Anja, primary, Schmutzler, Rita K., primary, Simard, Jacques, primary, Soucy, Penny, primary, Eeles, Rosalind A., primary, Easton, Douglas F., primary, Hamann, Ute, primary, Wilkening, Stefan, primary, Chen, Bowang, primary, Rookus, Matti A., primary, Schmidt, Marjanka K., primary, van der Baan, Frederieke H., primary, Spurdle, Amanda B., primary, Walker, Logan C., primary, Lose, Felicity, primary, Maia, Ana-Teresa, primary, Montagna, Marco, primary, Matricardi, Laura, primary, Lubinski, Jan, primary, Jakubowska, Anna, primary, Gómez Garcia, Encarna B., primary, Olopade, Olufunmilayo I., primary, Nussbaum, Robert L., primary, Nathanson, Katherine L., primary, Domchek, Susan M., primary, Rebbeck, Timothy R., primary, Arun, Banu K., primary, Karlan, Beth Y., primary, Orsulic, Sandra, primary, Lester, Jenny, primary, Chung, Wendy K., primary, Miron, Alex, primary, Southey, Melissa C., primary, Goldgar, David E., primary, Buys, Saundra S., primary, Janavicius, Ramunas, primary, Dorfling, Cecilia M., primary, van Rensburg, Elizabeth J., primary, Ding, Yuan Chun, primary, Neuhausen, Susan L., primary, Hansen, Thomas V.O., primary, Gerdes, Anne-Marie, primary, Ejlertsen, Bent, primary, Jønson, Lars, primary, Osorio, Ana, primary, Martínez-Bouzas, Cristina, primary, Benitez, Javier, primary, Conway, Edye E., primary, Blazer, Kathleen R., primary, Weitzel, Jeffrey N., primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Scuvera, Giulietta, primary, Barile, Monica, primary, Ficarazzi, Filomena, primary, Mariette, Frederique, primary, Fortuzzi, Stefano, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Papi, Laura, primary, Martayan, Aline, primary, Tibiletti, Maria Grazia, primary, Radice, Paolo, primary, Vratimos, Athanassios, primary, Fostira, Florentia, primary, Garber, Judy E., primary, Donaldson, Alan, primary, Brewer, Carole, primary, Foo, Claire, primary, Evans, D. Gareth R., primary, Frost, Debra, primary, Eccles, Diana, primary, Brady, Angela, primary, Cook, Jackie, primary, Tischkowitz, Marc, primary, Adlard, Julian, primary, Barwell, Julian, primary, Walker, Lisa, primary, Izatt, Louise, primary, Side, Lucy E., primary, Kennedy, M. John, primary, Rogers, Mark T., primary, Porteous, Mary E., primary, Morrison, Patrick J., primary, Platte, Radka, primary, Davidson, Rosemarie, primary, Hodgson, Shirley V., primary, Ellis, Steve, primary, Cole, Trevor, primary, Godwin, Andrew K., primary, Claes, Kathleen, primary, Van Maerken, Tom, primary, Meindl, Alfons, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Engel, Christoph, primary, Niederacher, Dieter, primary, Steinemann, Doris, primary, Plendl, Hansjoerg, primary, Kast, Karin, primary, Rhiem, Kerstin, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Varon-Mateeva, Raymonda, primary, Wappenschmidt, Barbara, primary, Wang-Gohrke, Shan, primary, Bressac-de Paillerets, Brigitte, primary, Buecher, Bruno, primary, Delnatte, Capucine, primary, Houdayer, Claude, primary, Stoppa-Lyonnet, Dominique, primary, Damiola, Francesca, primary, Coupier, Isabelle, primary, Barjhoux, Laure, primary, Venat-Bouvet, Laurence, primary, Golmard, Lisa, primary, Boutry-Kryza, Nadia, primary, Sinilnikova, Olga M., primary, Caron, Olivier, primary, Pujol, Pascal, primary, Mazoyer, Sylvie, primary, Belotti, Muriel, primary, Piedmonte, Marion, primary, Friedlander, Michael L., primary, Rodriguez, Gustavo C., primary, Copeland, Larry J., primary, de la Hoya, Miguel, primary, Segura, Pedro Perez, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, van der Hout, Annemarie H., primary, Vreeswijk, Maaike P.G., primary, Hoogerbrugge, Nicoline, primary, Ausems, Margreet G.E.M., primary, van Doorn, Helena C., primary, Collée, J. Margriet, primary, Olah, Edith, primary, Diez, Orland, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Feliubadalo, Lidia, primary, Cybulski, Cezary, primary, Gronwald, Jacek, primary, Durda, Katarzyna, primary, Jaworska-Bieniek, Katarzyna, primary, Sukiennicki, Grzegorz, primary, Arason, Adalgeir, primary, Chiquette, Jocelyne, primary, Teixeira, Manuel R., primary, Olswold, Curtis, primary, Couch, Fergus J., primary, Lindor, Noralane M., primary, Wang, Xianshu, primary, Szabo, Csilla I., primary, Offit, Kenneth, primary, Corines, Marina, primary, Jacobs, Lauren, primary, Robson, Mark E., primary, Zhang, Liying, primary, Joseph, Vijai, primary, Berger, Andreas, primary, Singer, Christian F., primary, Rappaport, Christine, primary, Kaulich, Daphne Geschwantler, primary, Pfeiler, Georg, primary, Tea, Muy-Kheng M., primary, Phelan, Catherine M., primary, Greene, Mark H., primary, Mai, Phuong L., primary, Rennert, Gad, primary, Mulligan, Anna Marie, primary, Glendon, Gord, primary, Tchatchou, Sandrine, primary, Andrulis, Irene L., primary, Toland, Amanda Ewart, primary, Bojesen, Anders, primary, Pedersen, Inge Sokilde, primary, Thomassen, Mads, primary, Jensen, Uffe Birk, primary, Laitman, Yael, primary, Rantala, Johanna, primary, von Wachenfeldt, Anna, primary, Ehrencrona, Hans, primary, Askmalm, Marie Stenmark, primary, Borg, Åke, primary, Kuchenbaecker, Karoline B., primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Healey, Sue, primary, Lee, Andrew, primary, Pharoah, Paul D.P., primary, Chenevix-Trench, Georgia, primary, Antoniou, Antonis C., primary, and Friedman, Eitan, primary

Published
2023
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18. Supplemental Data 5 from Upregulation of MAPK Negative Feedback Regulators and RET in Mutant ALK Neuroblastoma: Implications for Targeted Treatment

Author

Lambertz, Irina, primary, Kumps, Candy, primary, Claeys, Shana, primary, Lindner, Sven, primary, Beckers, Anneleen, primary, Janssens, Els, primary, Carter, Daniel R., primary, Cazes, Alex, primary, Cheung, Belamy B., primary, De Mariano, Marilena, primary, De Bondt, An, primary, De Brouwer, Sara, primary, Delattre, Olivier, primary, Gibbons, Jay, primary, Janoueix-Lerosey, Isabelle, primary, Laureys, Geneviève, primary, Liang, Chris, primary, Marchall, Glenn M., primary, Porcu, Michael, primary, Takita, Junko, primary, Trujillo, David Camacho, primary, Van Den Wyngaert, Ilse, primary, Van Roy, Nadine, primary, Van Goethem, Alan, primary, Van Maerken, Tom, primary, Zabrocki, Piotr, primary, Cools, Jan, primary, Schulte, Johannes H., primary, Vialard, Jorge, primary, Speleman, Frank, primary, and De Preter, Katleen, primary

Published
2023
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19. Supplemental Data 9 from Upregulation of MAPK Negative Feedback Regulators and RET in Mutant ALK Neuroblastoma: Implications for Targeted Treatment

Author

Lambertz, Irina, primary, Kumps, Candy, primary, Claeys, Shana, primary, Lindner, Sven, primary, Beckers, Anneleen, primary, Janssens, Els, primary, Carter, Daniel R., primary, Cazes, Alex, primary, Cheung, Belamy B., primary, De Mariano, Marilena, primary, De Bondt, An, primary, De Brouwer, Sara, primary, Delattre, Olivier, primary, Gibbons, Jay, primary, Janoueix-Lerosey, Isabelle, primary, Laureys, Geneviève, primary, Liang, Chris, primary, Marchall, Glenn M., primary, Porcu, Michael, primary, Takita, Junko, primary, Trujillo, David Camacho, primary, Van Den Wyngaert, Ilse, primary, Van Roy, Nadine, primary, Van Goethem, Alan, primary, Van Maerken, Tom, primary, Zabrocki, Piotr, primary, Cools, Jan, primary, Schulte, Johannes H., primary, Vialard, Jorge, primary, Speleman, Frank, primary, and De Preter, Katleen, primary

Published
2023
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20. Supplementary Table 2 from Meta-analysis of Neuroblastomas Reveals a Skewed ALK Mutation Spectrum in Tumors with MYCN Amplification

Author

De Brouwer, Sara, primary, De Preter, Katleen, primary, Kumps, Candy, primary, Zabrocki, Piotr, primary, Porcu, Michaël, primary, Westerhout, Ellen M., primary, Lakeman, Arjan, primary, Vandesompele, Jo, primary, Hoebeeck, Jasmien, primary, Van Maerken, Tom, primary, De Paepe, Anne, primary, Laureys, Geneviève, primary, Schulte, Johannes H., primary, Schramm, Alexander, primary, Van Den Broecke, Caroline, primary, Vermeulen, Joëlle, primary, Van Roy, Nadine, primary, Beiske, Klaus, primary, Renard, Marleen, primary, Noguera, Rosa, primary, Delattre, Olivier, primary, Janoueix-Lerosey, Isabelle, primary, Kogner, Per, primary, Martinsson, Tommy, primary, Nakagawara, Akira, primary, Ohira, Miki, primary, Caron, Huib, primary, Eggert, Angelika, primary, Cools, Jan, primary, Versteeg, Rogier, primary, and Speleman, Frank, primary

Published
2023
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22. Supplemental Data from Upregulation of MAPK Negative Feedback Regulators and RET in Mutant ALK Neuroblastoma: Implications for Targeted Treatment

Author

Lambertz, Irina, primary, Kumps, Candy, primary, Claeys, Shana, primary, Lindner, Sven, primary, Beckers, Anneleen, primary, Janssens, Els, primary, Carter, Daniel R., primary, Cazes, Alex, primary, Cheung, Belamy B., primary, De Mariano, Marilena, primary, De Bondt, An, primary, De Brouwer, Sara, primary, Delattre, Olivier, primary, Gibbons, Jay, primary, Janoueix-Lerosey, Isabelle, primary, Laureys, Geneviève, primary, Liang, Chris, primary, Marchall, Glenn M., primary, Porcu, Michael, primary, Takita, Junko, primary, Trujillo, David Camacho, primary, Van Den Wyngaert, Ilse, primary, Van Roy, Nadine, primary, Van Goethem, Alan, primary, Van Maerken, Tom, primary, Zabrocki, Piotr, primary, Cools, Jan, primary, Schulte, Johannes H., primary, Vialard, Jorge, primary, Speleman, Frank, primary, and De Preter, Katleen, primary

Published
2023
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24. Exploration of neuroblastoma xenograft models for tumor extracellular RNA profiling in murine blood plasma

Author

Deleu, Jill, primary, Van Droogenbroeck, Hanne, additional, Anckaert, Jasper, additional, Decock, Anneleen, additional, De Wilde, Jilke, additional, Durinck, Kaat, additional, Mus, Liselot M., additional, Nuytens, Justine, additional, Rishfi, Muhammad, additional, Schoofs, Kathleen, additional, Speleman, Frank, additional, Van Trimpont, Maaike, additional, Verniers, Kimberly, additional, Yigit, Nurten, additional, Vandesompele, Jo, additional, De Wilde, Bram, additional, and Van Maerken, Tom, additional

Published
2023
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25. Additional file 5 of Digital PCR-based evaluation of nucleic acid extraction kit performance for the co-purification of cell-free DNA and RNA

Author

Deleu, Jill, Schoofs, Kathleen, Decock, Anneleen, Verniers, Kimberly, Roelandt, Sofie, Denolf, Angie, Verreth, Joke, De Wilde, Bram, Van Maerken, Tom, De Preter, Katleen, and Vandesompele, Jo

Abstract

Additional file 5: Figure S2. Overview of TapeStation results. Results from TapeStation of all cfDNA samples purified with one of the six (co-)purification kits. There are 13/46 samples that have concentrations below LOD (20 pg/µl), and 2/46 samples without any peaks (flat profiles). For 1/46 samples there was not enough material left for TapeStation.

Published
2023
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26. Additional file 6 of Digital PCR-based evaluation of nucleic acid extraction kit performance for the co-purification of cell-free DNA and RNA

Author

Deleu, Jill, Schoofs, Kathleen, Decock, Anneleen, Verniers, Kimberly, Roelandt, Sofie, Denolf, Angie, Verreth, Joke, De Wilde, Bram, Van Maerken, Tom, De Preter, Katleen, and Vandesompele, Jo

Abstract

Additional file 6: Figure S3. Detailed description of laboratory workflow. Workflow used to determine co-purification performance of each kit and subsequent calculations to determine the concentrations in each eluate: (A) MIRA and CCF, (B) MIR, (C) CAT, (D) MAX, and (E) MAP.

Published
2023
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27. Additional file 7 of Digital PCR-based evaluation of nucleic acid extraction kit performance for the co-purification of cell-free DNA and RNA

Author

Deleu, Jill, Schoofs, Kathleen, Decock, Anneleen, Verniers, Kimberly, Roelandt, Sofie, Denolf, Angie, Verreth, Joke, De Wilde, Bram, Van Maerken, Tom, De Preter, Katleen, and Vandesompele, Jo

Abstract

Additional file 7: Figure S4. Experimental overview of a combined cfDNA/cfRNA quantification and a parallel quantification of cfDNA and cfRNA.

Published
2023
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31. Whole transcriptome profiling of liquid biopsies from tumour xenografted mouse models enables specific monitoring of tumour-derived extracellular RNA

Author

Vermeirssen, Vanessa, primary, Deleu, Jill, additional, Morlion, Annelien, additional, Everaert, Celine, additional, De Wilde, Jilke, additional, Anckaert, Jasper, additional, Durinck, Kaat, additional, Nuytens, Justine, additional, Rishfi, Muhammad, additional, Speleman, Frank, additional, Van Droogenbroeck, Hanne, additional, Verniers, Kimberly, additional, Baietti, Maria Francesca, additional, Albersen, Maarten, additional, Leucci, Eleonora, additional, Post, Edward, additional, Best, Myron G, additional, Van Maerken, Tom, additional, De Wilde, Bram, additional, Vandesompele, Jo, additional, and Decock, Anneleen, additional

Published
2022
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33. A G316A Polymorphism in the Ornithine Decarboxylase Gene Promoter Modulates MYCN-Driven Childhood Neuroblastoma

Author

Gamble, Laura D., primary, Purgato, Stefania, additional, Henderson, Michelle J., additional, Di Giacomo, Simone, additional, Russell, Amanda J., additional, Pigini, Paolo, additional, Murray, Jayne, additional, Valli, Emanuele, additional, Milazzo, Giorgio, additional, Giorgi, Federico M., additional, Cowley, Mark, additional, Ashton, Lesley J., additional, Bhalshankar, Jaydutt, additional, Schleiermacher, Gudrun, additional, Rihani, Ali, additional, Van Maerken, Tom, additional, Vandesompele, Jo, additional, Speleman, Frank, additional, Versteeg, Rogier, additional, Koster, Jan, additional, Eggert, Angelika, additional, Noguera, Rosa, additional, Stallings, Raymond L., additional, Tonini, Gian Paolo, additional, Fong, Kwun, additional, Vaksman, Zalman, additional, Diskin, Sharon J., additional, Maris, John M., additional, London, Wendy B., additional, Marshall, Glenn M., additional, Ziegler, David S., additional, Hogarty, Michael D., additional, Perini, Giovanni, additional, Norris, Murray D., additional, and Haber, Michelle, additional

Published
2021
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34. EVI1-mediated down regulation of MIR449A is essential for the survival of EVI1 positive leukaemic cells

Author

De Weer, An, Van der Meulen, Joni, Rondou, Pieter, Taghon, Tom, Konrad, Torsten A., De Preter, Katleen, Mestdagh, Pieter, Van Maerken, Tom, Van Roy, Nadine, Jeison, Marta, Yaniv, Isaac, Cauwelier, Barbara, Noens, Lucien, Poirel, Hélène-Antoine, Vandenberghe, Peter, Lambert, Frédéric, De Paepe, Anne, Sánchez, Maria García, Odero, Maria, Verhasselt, Bruno, Philippé, Jan, Vandesompele, Joke, Wieser, Rotraud, Dastugue, Nicole, Van Vlierberghe, Pieter, Poppe, Bruce, and Speleman, Frank

Published
2011
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37. Meticulous plasma isolation is essential to avoid false low-level viraemia in Roche Cobas HIV-1 viral load assays.

Author

UCL - SSS/IREC/MBLG - Pôle de Microbiologie médicale, UCL - (SLuc) Service de microbiologie, Mortier, Virginie, Vancoillie, Leen, Dauwe, Kenny, Staelens, Delfien, Demecheleer, Els, Schauvliege, Marlies, Dinakis, Sylvie, Van Maerken, Tom, Dessilly, Géraldine, Ruelle, Jean, Verhofstede, Chris, UCL - SSS/IREC/MBLG - Pôle de Microbiologie médicale, UCL - (SLuc) Service de microbiologie, Mortier, Virginie, Vancoillie, Leen, Dauwe, Kenny, Staelens, Delfien, Demecheleer, Els, Schauvliege, Marlies, Dinakis, Sylvie, Van Maerken, Tom, Dessilly, Géraldine, Ruelle, Jean, and Verhofstede, Chris

Abstract

BACKGROUND: Pre-analytical sample processing is often overlooked as a potential cause of inaccurate assay results. Here we demonstrate how plasma, extracted from standard EDTA-containing blood collection tubes, may contain traces of blood cells consequently resulting in a false low-level HIV-1 viral load when using Roche Cobas HIV-1 assays. METHODS: The presence of human DNA in Roche Cobas 4800 RNA extracts and in RNA extracts from the Abbott HIV-1 RealTime assay was assessed by quantifying the human albumin gene by means of quantitative PCR. RNA was extracted from plasma samples before and after an additional centrifugation and tested for viral load and DNA contamination. The relation between total DNA content and viral load was defined. RESULTS: Elevated concentrations of genomic DNA were detected in 28 out of 100 Cobas 4800 extracts and were significantly more frequent in samples processed outside of the AIDS Reference Laboratory. An association between genomic DNA presence and spurious low-level viraemia results was demonstrated. Supplementary centrifugation of plasma before RNA extraction eliminated the contamination and the false viraemia. CONCLUSIONS: Plasma isolated from standard EDTA-containing blood collection tubes may contain traces of HIV DNA leading to false viral load results above the clinical cutoff. Supplementary centrifugation of plasma before viral load analysis may eliminate the occurrence of this spurious low-level viraemia.

Published
2018

38. Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients

Author

Zeka, Fjoralba, Decock, Anneleen, Van Goethem, Alan, Vanderheyden, Katrien, Demuynck, Fleur, Lammens, Tim, Helsmoortel, Hetty H., Vermeulen, Joelle, Noguera, Rosa, Berbegall, Ana P., Combaret, Valerie, Schleiermacher, Gudrun, Laureys, Genevieve, Schramm, Alexander, Schulte, Johannes H., Rahman, Sven, Bienertova-Vasku, Julie, Mazanek, Pavel, Jeison, Marta, Ash, Shifra, Hogarty, Michael D., Moreno-Smith, Mirthala, Barbieri, Eveline, Shohet, Jason, Berthold, Frank, Van Maerken, Tom, Speleman, Frank, Fischer, Matthias, De Preter, Katleen, Mestdagh, Pieter, Vandesompele, Jo, Zeka, Fjoralba, Decock, Anneleen, Van Goethem, Alan, Vanderheyden, Katrien, Demuynck, Fleur, Lammens, Tim, Helsmoortel, Hetty H., Vermeulen, Joelle, Noguera, Rosa, Berbegall, Ana P., Combaret, Valerie, Schleiermacher, Gudrun, Laureys, Genevieve, Schramm, Alexander, Schulte, Johannes H., Rahman, Sven, Bienertova-Vasku, Julie, Mazanek, Pavel, Jeison, Marta, Ash, Shifra, Hogarty, Michael D., Moreno-Smith, Mirthala, Barbieri, Eveline, Shohet, Jason, Berthold, Frank, Van Maerken, Tom, Speleman, Frank, Fischer, Matthias, De Preter, Katleen, Mestdagh, Pieter, and Vandesompele, Jo

Abstract

In this study, the circulating miRNome from diagnostic neuroblastoma serum was assessed for identification of noninvasive biomarkers with potential in monitoring metastatic disease, After determining the circulating neuroblastoma miRNome, 743 miRNAs were screened in 2 independent cohorts of 131 and 54 patients. Evaluation of serum miRNA variance in a model testing for tumor stage, MYCN status, age at diagnosis, and overall survival revealed tumor stage as the most significant factor impacting miRNA abundance in neuroblastoma serum. Differential abundance analysis between patients with metastatic and localized disease revealed 9 miRNAs strongly associated with metastatic stage 4 disease in both patient cohorts. Increasing levels of these miRNAs were also observed in serum from xenografted mice bearing human neuroblastoma tumors. Moreover, murine serum miRNA levels were strongly associated with tumor volume. These findings were validated in longitudinal serum samples from metastatic neuroblastoma patients, where the 9 miRNAs were associated with disease burden and treatment response.

Published
2018

39. ALK positively regulates MYCN activity through repression of HBP1 expression

Author

Claeys, Shana, primary, Denecker, Geertrui, additional, Durinck, Kaat, additional, Decaesteker, Bieke, additional, Mus, Liselot M., additional, Loontiens, Siebe, additional, Vanhauwaert, Suzanne, additional, Althoff, Kristina, additional, Wigerup, Caroline, additional, Bexell, Daniel, additional, Dolman, Emmy, additional, Henrich, Kai-Oliver, additional, Wehrmann, Lea, additional, Westerhout, Ellen M., additional, Demoulin, Jean-Baptiste, additional, Kumps, Candy, additional, Van Maerken, Tom, additional, Laureys, Genevieve, additional, Van Neste, Christophe, additional, De Wilde, Bram, additional, De Wever, Olivier, additional, Westermann, Frank, additional, Versteeg, Rogier, additional, Molenaar, Jan J., additional, Påhlman, Sven, additional, Schulte, Johannes H., additional, De Preter, Katleen, additional, and Speleman, Frank, additional

Published
2018
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40. Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients

Author

Zeka, Fjoralba, primary, Decock, Anneleen, additional, Van Goethem, Alan, additional, Vanderheyden, Katrien, additional, Demuynck, Fleur, additional, Lammens, Tim, additional, Helsmoortel, Hetty H., additional, Vermeulen, Joëlle, additional, Noguera, Rosa, additional, Berbegall, Ana P., additional, Combaret, Valérie, additional, Schleiermacher, Gudrun, additional, Laureys, Geneviève, additional, Schramm, Alexander, additional, Schulte, Johannes H., additional, Rahmann, Sven, additional, Bienertová-Vašků, Julie, additional, Mazánek, Pavel, additional, Jeison, Marta, additional, Ash, Shifra, additional, Hogarty, Michael D., additional, Moreno-Smith, Mirthala, additional, Barbieri, Eveline, additional, Shohet, Jason, additional, Berthold, Frank, additional, Van Maerken, Tom, additional, Speleman, Frank, additional, Fischer, Matthias, additional, De Preter, Katleen, additional, Mestdagh, Pieter, additional, and Vandesompele, Jo, additional

Published
2018
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41. Thorough in silico and in vitro cDNA analysis of 21 putativeBRCA1andBRCA2splice variants and a complex tandem duplication inBRCA2allowing the identification of activated cryptic splice donor sites inBRCA2exon 11

Author

Baert, Annelot, primary, Machackova, Eva, additional, Coene, Ilse, additional, Cremin, Carol, additional, Turner, Kristin, additional, Portigal-Todd, Cheryl, additional, Asrat, Marie Jill, additional, Nuk, Jennifer, additional, Mindlin, Allison, additional, Young, Sean, additional, MacMillan, Andree, additional, Van Maerken, Tom, additional, Trbusek, Martin, additional, McKinnon, Wendy, additional, Wood, Marie E., additional, Foulkes, William D., additional, Santamariña, Marta, additional, de la Hoya, Miguel, additional, Foretova, Lenka, additional, Poppe, Bruce, additional, Vral, Anne, additional, Rosseel, Toon, additional, De Leeneer, Kim, additional, Vega, Ana, additional, and Claes, Kathleen B. M., additional

Published
2018
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42. Copy number variation analysis and methylome profiling of a GNAQ-mutant primary meningeal melanocytic tumor and its liver metastasis

Author

Küsters-Vandevelde, Heidi V N, Kruse, Vibeke, Van Maerken, Tom, Boterberg, Tom, Pfundt, Rolph, Creytens, David, Van den Broecke, Caroline, Machielsen, Trudi C., Koelsche, Christian, von Deimling, Andreas, Küsters, Benno, Groenen, Patricia J T A, Wesseling, Pieter, Blokx, Willeke A M, Küsters-Vandevelde, Heidi V N, Kruse, Vibeke, Van Maerken, Tom, Boterberg, Tom, Pfundt, Rolph, Creytens, David, Van den Broecke, Caroline, Machielsen, Trudi C., Koelsche, Christian, von Deimling, Andreas, Küsters, Benno, Groenen, Patricia J T A, Wesseling, Pieter, and Blokx, Willeke A M

Published
2017

43. Accelerating drug development for neuroblastoma - New Drug Development Strategy: an Innovative Therapies for Children with Cancer, European Network for Cancer Research in Children and Adolescents and International Society of Paediatric Oncology Europe Neuroblastoma project

Author

Moreno, Lucas, Caron, Hubert, Geoerger, Birgit, Eggert, Angelika, Schleiermacher, Gudrun, Brock, Penelope, Valteau-Couanet, Dominique, Chesler, Louis, Schulte, Johannes H., De Preter, Katleen, Molenaar, Jan, Schramm, Alexander, Eilers, Martin, Van Maerken, Tom, Johnsen, John Inge, Garrett, Michelle, George, Sally L., Tweddle, Deborah A., Kogner, Per, Berthold, Frank, Koster, Jan, Barone, Giuseppe, Tucker, Elizabeth R., Marshall, Lynley, Herold, Ralf, Sterba, Jaroslav, Norga, Koen, Vassal, Gilles, Pearson, Andrew D. J., Moreno, Lucas, Caron, Hubert, Geoerger, Birgit, Eggert, Angelika, Schleiermacher, Gudrun, Brock, Penelope, Valteau-Couanet, Dominique, Chesler, Louis, Schulte, Johannes H., De Preter, Katleen, Molenaar, Jan, Schramm, Alexander, Eilers, Martin, Van Maerken, Tom, Johnsen, John Inge, Garrett, Michelle, George, Sally L., Tweddle, Deborah A., Kogner, Per, Berthold, Frank, Koster, Jan, Barone, Giuseppe, Tucker, Elizabeth R., Marshall, Lynley, Herold, Ralf, Sterba, Jaroslav, Norga, Koen, Vassal, Gilles, and Pearson, Andrew D. J.

Abstract

Introduction: Neuroblastoma, the commonest paediatric extra-cranial tumour, remains a leading cause of death from cancer in children. There is an urgent need to develop new drugs to improve cure rates and reduce long-term toxicity and to incorporate molecularly targeted therapies into treatment. Many potential drugs are becoming available, but have to be prioritised for clinical trials due to the relatively small numbers of patients. Areas covered: The current drug development model has been slow, associated with significant attrition, and few new drugs have been developed for neuroblastoma. The Neuroblastoma New Drug Development Strategy (NDDS) has: 1) established a group with expertise in drug development; 2) prioritised targets and drugs according to tumour biology (target expression, dependency, pre-clinical data; potential combinations; biomarkers), identifying as priority targets ALK, MEK, CDK4/6, MDM2, MYCN (druggable by BET bromodomain, aurora kinase, mTORC1/2) BIRC5 and checkpoint kinase 1; 3) promoted clinical trials with target-prioritised drugs. Drugs showing activity can be rapidly transitioned via parallel randomised trials into front-line studies. Expert opinion: The Neuroblastoma NDDS is based on the premise that optimal drug development is reliant on knowledge of tumour biology and prioritisation. This approach will accelerate neuroblastoma drug development and other poor prognosis childhood malignancies.

Published
2017

44. Copy number variation analysis and methylome profiling of a GNAQ-mutant primary meningeal melanocytic tumor and its liver metastasis

Author

Pathologie patiënten zorg, Küsters-Vandevelde, Heidi V N, Kruse, Vibeke, Van Maerken, Tom, Boterberg, Tom, Pfundt, Rolph, Creytens, David, Van den Broecke, Caroline, Machielsen, Trudi C., Koelsche, Christian, von Deimling, Andreas, Küsters, Benno, Groenen, Patricia J T A, Wesseling, Pieter, Blokx, Willeke A M, Pathologie patiënten zorg, Küsters-Vandevelde, Heidi V N, Kruse, Vibeke, Van Maerken, Tom, Boterberg, Tom, Pfundt, Rolph, Creytens, David, Van den Broecke, Caroline, Machielsen, Trudi C., Koelsche, Christian, von Deimling, Andreas, Küsters, Benno, Groenen, Patricia J T A, Wesseling, Pieter, and Blokx, Willeke A M

Published
2017

46. Accelerating drug development for neuroblastoma - New Drug Development Strategy: an Innovative Therapies for Children with Cancer, European Network for Cancer Research in Children and Adolescents and International Society of Paediatric Oncology Europe Neuroblastoma project

Author

Moreno, Lucas, primary, Caron, Hubert, additional, Geoerger, Birgit, additional, Eggert, Angelika, additional, Schleiermacher, Gudrun, additional, Brock, Penelope, additional, Valteau-Couanet, Dominique, additional, Chesler, Louis, additional, Schulte, Johannes H, additional, De Preter, Katleen, additional, Molenaar, Jan, additional, Schramm, Alexander, additional, Eilers, Martin, additional, Van Maerken, Tom, additional, Johnsen, John Inge, additional, Garrett, Michelle, additional, George, Sally L, additional, Tweddle, Deborah A., additional, Kogner, Per, additional, Berthold, Frank, additional, Koster, Jan, additional, Barone, Giuseppe, additional, Tucker, Elizabeth R, additional, Marshall, Lynley, additional, Herold, Ralf, additional, Sterba, Jaroslav, additional, Norga, Koen, additional, Vassal, Gilles, additional, and Pearson, Andrew DJ, additional

Published
2017
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48. Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay

Author

Baert, Annelot, primary, Depuydt, Julie, additional, Van Maerken, Tom, additional, Poppe, Bruce, additional, Malfait, Fransiska, additional, Van Damme, Tim, additional, De Nobele, Sylvia, additional, Perletti, Gianpaolo, additional, De Leeneer, Kim, additional, Claes, Kathleen B.M., additional, and Vral, Anne, additional

Published
2017
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49. Meticulous plasma isolation is essential to avoid false low-level viraemia in Roche Cobas HIV-1 viral load assays

Author

Mortier, Virginie, primary, Vancoillie, Leen, additional, Dauwe, Kenny, additional, Staelens, Delfien, additional, Demecheleer, Els, additional, Schauvliege, Marlies, additional, Dinakis, Sylvie, additional, Van Maerken, Tom, additional, Dessilly, Géraldine, additional, Ruelle, Jean, additional, and Verhofstede, Chris, additional

Published
2017
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50. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Author

Meeks, Huong D., Song, Honglin, Michailidou, Kyriaki, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Barrowdale, Daniel, Frost, Debra, McGuffog, Lesley, Ellis, Steve, Feng, Bingjian, Buys, Saundra S., Hopper, John L., Southey, Melissa C., Tesoriero, Andrea, James, Paul A., Bruinsma, Fiona, Campbell, Ian G., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Beckman, Matthias W., Fasching, Peter A., Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Riboli, Elio, Banerjee, Susana, Menon, Usha, Tomlinson, Ian, Burwinkel, Barbara, Hamann, Ute, Marme, Frederik, Rudolph, Anja, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Garber, Judy, Cramer, Daniel, Terry, Kathryn L., Poole, Elizabeth M., Tworoger, Shelley S., Dorfling, Cecilia M., van Rensburg, Elizabeth J., Godwin, Andrew K., Guenel, Pascal, Truong, Therese, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Mazoyer, Sylvie, Sinilnikova, Olga M., Isaacs, Claudine, Maugard, Christine, Bojesen, Stig E., Flyger, Henrik, Gerdes, Anne-Marie, Hansen, Thomas V. O., Jensen, Allen, Kjaer, Susanne K., Hogdall, Claus, Hogdall, Estrid, Pedersen, Inge Sokilde, Thomassen, Mads, Benitez, Javier, Gonzalez-Neira, Anna, Osorio, Ana, de la Hoya, Miguel, Perez Segura, Pedro, Diez, Orland, Lazaro, Conxi, Brunet, Joan, Anton-Culver, Hoda, Eunjung, Lee, John, Esther M., Neuhausen, Susan L., Ding, Yuan Chun, Castillo, Danielle, Weitzel, Jeffrey N., Ganz, Patricia A., Nussbaum, Robert L., Chan, Salina B., Karlan, Beth Y., Lester, Jenny, Wu, Anna, Gayther, Simon, Ramus, Susan J., Sieh, Weiva, Whittermore, Alice S., Monteiro, Alvaro N. A., Phelan, Catherine M., Terry, Mary Beth, Piedmonte, Marion, Offit, Kenneth, Robson, Mark, Levine, Douglas, Moysich, Kirsten B., Cannioto, Rikki, Olson, Sara H., Daly, Mary B., Nathanson, Katherine L., Domchek, Susan M., Lu, Karen H., Liang, Dong, Hildebrant, Michelle A. T., Ness, Roberta, Modugno, Francesmary, Pearce, Leigh, Goodman, Marc T., Thompson, Pamela J., Brenner, Hermann, Butterbach, Katja, Meindl, Alfons, Hahnen, Eric, Wappenschmidt, Barbara, Brauch, Hiltrud, Bruening, Thomas, Blomqvist, Carl, Khan, Sofia, Nevanlinna, Heli, Pelttari, Liisa M., Aittomaeki, Kristiina, Butzow, Ralf, Bogdanova, Natalia V., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Rantala, Johanna, Kosma, Veli-Matti, Mannermaa, Arto, Lambrechts, Diether, Neven, Patrick, Claes, Kathleen B. M., Van Maerken, Tom, Chang-Claude, Jenny, Flesch-Janys, Dieter, Heitz, Florian, Varon-Mateeva, Raymonda, Peterlongo, Paolo, Radice, Paolo, Viel, Alessandra, Barile, Monica, Peissel, Bernard, Manoukian, Siranoush, Montagna, Marco, Oliani, Cristina, Peixoto, Ana, Teixeira, Manuel R., Collavoli, Anita, Hallberg, Emily, Olson, Janet E., Goode, Ellen L., Hart, Steven N., Shimelis, Hermela, Cunningham, Julie M., Giles, Graham G., Milne, Roger L., Healey, Sue, Tucker, Kathy, Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Tischkowitz, Marc, Simard, Jacques, Soucy, Penny, Eccles, Diana M., Le, Nhu, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Salvesen, Helga B., Bjorge, Line, Bandera, Elisa V., Risch, Harvey, Zheng, Wei, Beeghly-Fadiel, Alicia, Cai, Hui, Pylkas, Katri, Tollenaar, Robert A. E. M., van der Ouweland, Ans M. W., Andrulis, Irene L., Knight, Julia A., Narod, Steven, Devilee, Peter, Winqvist, Robert, Figueroa, Jonine, Greene, Mark H., Mai, Phuong L., Loud, Jennifer T., Garcia-Closas, Montserrat, Schoemaker, Minouk J., Czene, Kamila, Darabi, Hatef, McNeish, Iain, Siddiquil, Nadeem, Glasspool, Rosalind, Kwong, Ava, Park, Sue K., Teo, Soo Hwang, Yoon, Sook-Yee, Matsuo, Keitaro, Hosono, Satoyo, Woo, Yin Ling, Gao, Yu-Tang, Foretova, Lenka, Singer, Christian F., Rappaport-Feurhauser, Christine, Friedman, Eitan, Laitman, Yael, Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Olopade, Olufunmilayo I., Senter, Leigha, Olah, Edith, Doherty, Jennifer A., Schildkraut, Joellen, Koppert, Linetta B., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Cook, Linda S., Pejovic, Tanja, Li, Jingmei, Borg, Ake, Ofverholm, Anna, Rossing, Mary Anne, Wentzensen, Nicolas, Henriksson, Karin, Cox, Angela, Cross, Simon S., Pasini, Barbara J., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Agnarsson, Bjarni A., Kupryjanczyk, Jolanta, Moes-Sosnowska, Joanna, Fostira, Florentia, Konstantopoulou, Irene, Slager, Susan, Jones, Michael, Antoniou, Antonis C., Berchuck, Andrew, Swerdlow, Anthony, Chenevix-Trench, Georgia, Dunning, Alison M., Pharoah, Paul D. P., Hall, Per, Easton, Douglas F., Couch, Fergus J., Spurdle, Amanda B., Goldgar, David E., Meeks, Huong D., Song, Honglin, Michailidou, Kyriaki, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Barrowdale, Daniel, Frost, Debra, McGuffog, Lesley, Ellis, Steve, Feng, Bingjian, Buys, Saundra S., Hopper, John L., Southey, Melissa C., Tesoriero, Andrea, James, Paul A., Bruinsma, Fiona, Campbell, Ian G., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Beckman, Matthias W., Fasching, Peter A., Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Riboli, Elio, Banerjee, Susana, Menon, Usha, Tomlinson, Ian, Burwinkel, Barbara, Hamann, Ute, Marme, Frederik, Rudolph, Anja, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Garber, Judy, Cramer, Daniel, Terry, Kathryn L., Poole, Elizabeth M., Tworoger, Shelley S., Dorfling, Cecilia M., van Rensburg, Elizabeth J., Godwin, Andrew K., Guenel, Pascal, Truong, Therese, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Mazoyer, Sylvie, Sinilnikova, Olga M., Isaacs, Claudine, Maugard, Christine, Bojesen, Stig E., Flyger, Henrik, Gerdes, Anne-Marie, Hansen, Thomas V. O., Jensen, Allen, Kjaer, Susanne K., Hogdall, Claus, Hogdall, Estrid, Pedersen, Inge Sokilde, Thomassen, Mads, Benitez, Javier, Gonzalez-Neira, Anna, Osorio, Ana, de la Hoya, Miguel, Perez Segura, Pedro, Diez, Orland, Lazaro, Conxi, Brunet, Joan, Anton-Culver, Hoda, Eunjung, Lee, John, Esther M., Neuhausen, Susan L., Ding, Yuan Chun, Castillo, Danielle, Weitzel, Jeffrey N., Ganz, Patricia A., Nussbaum, Robert L., Chan, Salina B., Karlan, Beth Y., Lester, Jenny, Wu, Anna, Gayther, Simon, Ramus, Susan J., Sieh, Weiva, Whittermore, Alice S., Monteiro, Alvaro N. A., Phelan, Catherine M., Terry, Mary Beth, Piedmonte, Marion, Offit, Kenneth, Robson, Mark, Levine, Douglas, Moysich, Kirsten B., Cannioto, Rikki, Olson, Sara H., Daly, Mary B., Nathanson, Katherine L., Domchek, Susan M., Lu, Karen H., Liang, Dong, Hildebrant, Michelle A. T., Ness, Roberta, Modugno, Francesmary, Pearce, Leigh, Goodman, Marc T., Thompson, Pamela J., Brenner, Hermann, Butterbach, Katja, Meindl, Alfons, Hahnen, Eric, Wappenschmidt, Barbara, Brauch, Hiltrud, Bruening, Thomas, Blomqvist, Carl, Khan, Sofia, Nevanlinna, Heli, Pelttari, Liisa M., Aittomaeki, Kristiina, Butzow, Ralf, Bogdanova, Natalia V., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Rantala, Johanna, Kosma, Veli-Matti, Mannermaa, Arto, Lambrechts, Diether, Neven, Patrick, Claes, Kathleen B. M., Van Maerken, Tom, Chang-Claude, Jenny, Flesch-Janys, Dieter, Heitz, Florian, Varon-Mateeva, Raymonda, Peterlongo, Paolo, Radice, Paolo, Viel, Alessandra, Barile, Monica, Peissel, Bernard, Manoukian, Siranoush, Montagna, Marco, Oliani, Cristina, Peixoto, Ana, Teixeira, Manuel R., Collavoli, Anita, Hallberg, Emily, Olson, Janet E., Goode, Ellen L., Hart, Steven N., Shimelis, Hermela, Cunningham, Julie M., Giles, Graham G., Milne, Roger L., Healey, Sue, Tucker, Kathy, Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Tischkowitz, Marc, Simard, Jacques, Soucy, Penny, Eccles, Diana M., Le, Nhu, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Salvesen, Helga B., Bjorge, Line, Bandera, Elisa V., Risch, Harvey, Zheng, Wei, Beeghly-Fadiel, Alicia, Cai, Hui, Pylkas, Katri, Tollenaar, Robert A. E. M., van der Ouweland, Ans M. W., Andrulis, Irene L., Knight, Julia A., Narod, Steven, Devilee, Peter, Winqvist, Robert, Figueroa, Jonine, Greene, Mark H., Mai, Phuong L., Loud, Jennifer T., Garcia-Closas, Montserrat, Schoemaker, Minouk J., Czene, Kamila, Darabi, Hatef, McNeish, Iain, Siddiquil, Nadeem, Glasspool, Rosalind, Kwong, Ava, Park, Sue K., Teo, Soo Hwang, Yoon, Sook-Yee, Matsuo, Keitaro, Hosono, Satoyo, Woo, Yin Ling, Gao, Yu-Tang, Foretova, Lenka, Singer, Christian F., Rappaport-Feurhauser, Christine, Friedman, Eitan, Laitman, Yael, Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Olopade, Olufunmilayo I., Senter, Leigha, Olah, Edith, Doherty, Jennifer A., Schildkraut, Joellen, Koppert, Linetta B., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Cook, Linda S., Pejovic, Tanja, Li, Jingmei, Borg, Ake, Ofverholm, Anna, Rossing, Mary Anne, Wentzensen, Nicolas, Henriksson, Karin, Cox, Angela, Cross, Simon S., Pasini, Barbara J., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Agnarsson, Bjarni A., Kupryjanczyk, Jolanta, Moes-Sosnowska, Joanna, Fostira, Florentia, Konstantopoulou, Irene, Slager, Susan, Jones, Michael, Antoniou, Antonis C., Berchuck, Andrew, Swerdlow, Anthony, Chenevix-Trench, Georgia, Dunning, Alison M., Pharoah, Paul D. P., Hall, Per, Easton, Douglas F., Couch, Fergus J., Spurdle, Amanda B., and Goldgar, David E.

Abstract

Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers. Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided. Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-6)) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10(-5) and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10(-5), respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed. Conclusions: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations.

Published
2016

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