Author: "Ligtenberg, M.J. (Marjolijn)" - Searchworks@Jio Institute Digital Library Search Results

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1. Impact of DNA damage repair defects and aggressive variant features on response to carboplatin-based chemotherapy in metastatic castration-resistant prostate cancer

Author: Slootbeek, P.H.J. (Peter), Duizer, M.L. (Marleen), Doelen, M.J. (Maarten), Kloots, I.S.H. (Iris), Kuppen, M.C.P. (Malou), Westgeest, H.M. (Hans), Uyl-de Groot, C.A. (Carin), Pamidimarri Naga, S. (Samhita), Ligtenberg, M.J. (Marjolijn), Oort, I.M. (Inge) van, Gerritsen, W.R. (Winald), Schalken, J.A. (Jack), L.I. Kroeze (Leonie), Bloemendal, H.J. (Haiko), Mehra, N. (Niven), Slootbeek, P.H.J. (Peter), Duizer, M.L. (Marleen), Doelen, M.J. (Maarten), Kloots, I.S.H. (Iris), Kuppen, M.C.P. (Malou), Westgeest, H.M. (Hans), Uyl-de Groot, C.A. (Carin), Pamidimarri Naga, S. (Samhita), Ligtenberg, M.J. (Marjolijn), Oort, I.M. (Inge) van, Gerritsen, W.R. (Winald), Schalken, J.A. (Jack), L.I. Kroeze (Leonie), Bloemendal, H.J. (Haiko), and Mehra, N. (Niven)
Abstract: Platinum-based chemotherapy is not standard of care for unselected or genetically selected metastatic castration-resistant prostate cancer (mCRPC) patients. A retrospective assessment of 71 patients was performed on platinum use in the Netherlands. Genetically unselected patients yielded low response rates. For a predefined subanalysis of all patients with comprehensive next-generation sequencing, 30 patients were grouped based on the presence of pathogenic aberrations in genes associated with DNA damage repair (DDR) or aggressive variant prostate cancer (AVPC). Fourteen patients (47%) were DDR deficient (DDRd), of which seven with inactivated BRCA2 (BRCA2mut). Six patients classified as AVPC. DDRd patients showed beneficial biochemical response to carboplatin, largely driven by all BRCA2mut patients having >50% prostate-specif
Published: 2020
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2. Multicenter Comparison of Molecular Tumor Boards in The Netherlands: Definition, Composition, Methods, and Targeted Therapy Recommendations

Author: Koopman, B. (Bart), Groen, H.J.M. (Henk), Ligtenberg, M.J. (Marjolijn), Grünberg, K. (Katrien), Monkhorst, K. (Kim), de Langen, A.J. (Adrianus J.), Boelens, M.C. (Mirjam C.), Paats, M.S. (Marthe), Thusen, J.H. (Jan) von der, Dinjens, W.N.M. (Winand), Solleveld, N. (Nienke), Wezel, T. (Tom) van, Gelderblom, H. (Hans), Hendriks, L.E. (Lizza E.), Speel, E.J. (Ernst-Jan), Theunissen, T.E. (Tom E.), Kroeze, L.I. (Leonie I.), Mehra, N. (Niven), Piet, B. (Berber), van der Wekken, A.J. (Anthonie J.), ter Elst, A. (Arja), Timens, W. (Wim), Willems, S.M. (Stefan Martin), Meijers, R.W.J. (Ruud), Leng, W.W.J. (Wendy) de, van Lindert, A.S.R. (Anne S.R.), Radonic, T. (Teodora), Hashemi, S.M.S. (Sayed M.S.), Heideman, D.A.M. (Danielle), Schuuring, E. (Ed), Kempen, L.C. (Leon), Koopman, B. (Bart), Groen, H.J.M. (Henk), Ligtenberg, M.J. (Marjolijn), Grünberg, K. (Katrien), Monkhorst, K. (Kim), de Langen, A.J. (Adrianus J.), Boelens, M.C. (Mirjam C.), Paats, M.S. (Marthe), Thusen, J.H. (Jan) von der, Dinjens, W.N.M. (Winand), Solleveld, N. (Nienke), Wezel, T. (Tom) van, Gelderblom, H. (Hans), Hendriks, L.E. (Lizza E.), Speel, E.J. (Ernst-Jan), Theunissen, T.E. (Tom E.), Kroeze, L.I. (Leonie I.), Mehra, N. (Niven), Piet, B. (Berber), van der Wekken, A.J. (Anthonie J.), ter Elst, A. (Arja), Timens, W. (Wim), Willems, S.M. (Stefan Martin), Meijers, R.W.J. (Ruud), Leng, W.W.J. (Wendy) de, van Lindert, A.S.R. (Anne S.R.), Radonic, T. (Teodora), Hashemi, S.M.S. (Sayed M.S.), Heideman, D.A.M. (Danielle), Schuuring, E. (Ed), and Kempen, L.C. (Leon)
Abstract: Background: Molecular tumor boards (MTBs) provide rational, genomics-driven, patient-tailored treatment recommendations. Worldwide, MTBs differ in terms of scope, composition, methods, and recommendations. This study aimed to assess differences in methods and agreement in treatment recommendations among MTBs from tertiary cancer referral centers in The Netherlands. Materials and Methods: MTBs from all tertiary cancer referral centers in The Netherlands were invited to participate. A survey assessing scope, value, logistics, composition, decision-making method, reporting, and registration of the MTBs was completed through on-site interviews with members from each MTB. Targeted therapy recommendations were compared using 10 anonymized cases. Participating MTBs were asked to provide a treatment recommendation in accordance with their own methods. Agreement was based on which molecular alteration(s) was considered actionable with the next line of targeted therapy. Results: Interviews with 24 members of eight MTBs revealed that all participating MTBs focused on rare or complex mutational cancer profiles, operated independently of cancer type–specific multidisciplinary teams, and consisted of at least (thoracic and/or medical) oncologists, pathologists, and clinical scientists in molecular pathology. Differences were the types of cancer discussed and the methods used to achieve a recommendation. Nevertheless, agreement among MTB recommendations, based on identified actionable molecular alteration(s), was high for the 10 evaluated cases (86%). Conclusion: MTBs associated with tertiary cancer referral centers in The Netherlands are similar in setup and reach a high agreement in recommendations for rare or complex mutational cancer profiles. We propose a “Dutch MTB model” for an optimal, collaborative, and nationally aligned MTB workflow. Implications for Practice: Interpretation of genomic analyses for optimal choice of target therapy for patients with cancer is becoming in
Published: 2020
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3. Reply to Kratz et al.

Author: Frebourg, T. (Thierry), Lagercrantz, S.B. (Svetlana Bajalica), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, M. (Manuel), Tham, E. (Emma), Jan, L. (Lubinski), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), Hietala, M. (Marja), Frebourg, T. (Thierry), Lagercrantz, S.B. (Svetlana Bajalica), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, M. (Manuel), Tham, E. (Emma), Jan, L. (Lubinski), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), and Hietala, M. (Marja)
Published: 2020
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4. Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

Author: Frebourg, T. (Thierry), Bajalica Lagercrantz, S. (Svetlana), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Kets, C.M. (Marleen), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, P.J., Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), Hietala, M. (Marja), Frebourg, T. (Thierry), Bajalica Lagercrantz, S. (Svetlana), Oliveira, C. (Carla), Magenheim, R. (Rita), Evans, D.G. (D. Gareth), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Kets, C.M. (Marleen), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Tischkowitz, M. (Marc), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Houdayer, C. (Claude), Colas, C. (Chrystelle), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Teixeira, P.J., Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), and Hietala, M. (Marja)
Abstract: Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher canc
Published: 2020
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5. Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Author: Tischkowitz, M. (Marc), Colas, C. (Chrystelle), Pouwels, S. (Sjaak), Hoogerbrugge, N. (Nicoline), Bisseling, T. (Tanya), Bubien, V. (Virginie), Caux, F. (Frederic), Chabbert-Buffet, N. (Nathalie), Da Mota Gomes, S. (Sophie), Gotthardt, M. (Martin), Kets, C.M. (Marleen), Lachlan, K. (Katherine), Links, T.P. (Thera), Longy, M. (Michel), Mann, R. (Ritse), Kool, L.S. (Leo Schultze), Semple, R.K. (Robert K.), Stock, I. (Ian), Vos, J.R. (Janet), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Frebourg, T. (Thierry), Houdayer, C. (Claude), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Oliveira, C. (Carla), Teixeira, P.J., Bajalica-Lagercrantz, S. (Svetlana), Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), Hietala, M. (Marja), Tischkowitz, M. (Marc), Colas, C. (Chrystelle), Pouwels, S. (Sjaak), Hoogerbrugge, N. (Nicoline), Bisseling, T. (Tanya), Bubien, V. (Virginie), Caux, F. (Frederic), Chabbert-Buffet, N. (Nathalie), Da Mota Gomes, S. (Sophie), Gotthardt, M. (Martin), Kets, C.M. (Marleen), Lachlan, K. (Katherine), Links, T.P. (Thera), Longy, M. (Michel), Mann, R. (Ritse), Kool, L.S. (Leo Schultze), Semple, R.K. (Robert K.), Stock, I. (Ian), Vos, J.R. (Janet), Ligtenberg, M.J. (Marjolijn), Oostenbrink, R. (Rianne), Sijmons, R.H. (Rolf), Evans, G. (Gareth), Woodward, E.R. (Emma R.), Maher, E.R. (Eamonn), Ferner, R.E. (Rosalie E.), Aretz, S. (Stefan), Spier, I. (Isabel), Steinke-Lange, V. (Verena), Holinski-Feder, E. (Elke), Schröck, E. (Evelin), Frebourg, T. (Thierry), Houdayer, C. (Claude), Wolkenstein, P. (Pierre), Bours, V. (Vincent), Legius, E. (Eric), Poppe, B. (Bruce), Claes, K. (Kathleen), de Putter, R. (Robin), Guillermo, I.B. (Ignacio Blanco), Capellá, G. (Gabriel), Vidal, J.B. (Joan Brunet), Lázaro, C. (Conxi), Balmaña, J. (Judith), Hernandez, H.S. (Hector Salvador), Oliveira, C. (Carla), Teixeira, P.J., Bajalica-Lagercrantz, S. (Svetlana), Tham, E. (Emma), Lubinski, J. (Jan), Ertmanska, K. (Karolina), Melegh, B. (Bela), Krajc, M. (Mateja), Blatnik, A. (Ana), Peltonen, S. (Sirkku), and Hietala, M. (Marja)
Abstract: PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.
Published: 2020
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6. Implementation of Novel Molecular Biomarkers for Non-small Cell Lung Cancer in the Netherlands: How to Deal With Increasing Complexity

Author: van den Broek, D. (Daan), Hiltermann, T.J.N. (T. Jeroen N.), Biesma, B. (Bonne), Dinjens, W.N.M. (Winand), 't Hart, N.A. (Nils A.), Hinrichs, J.W.J. (John W.J.), Leers, J. (Joerg), Monkhorst, K. (Kim), Oosterhout, M.F.M. (Matthijs) van, Scharnhorst, V., Schuuring, E. (Ed), Speel, E.J. (Ernst-Jan), Van Den Heuvel, M. (Michel), Schaik, R.H.N. (Ron) van, Thusen, J.H. (Jan) von der, Willems, S.M. (Stefan Martin), de Visser, L. (Leonie), Ligtenberg, M.J. (Marjolijn), van den Broek, D. (Daan), Hiltermann, T.J.N. (T. Jeroen N.), Biesma, B. (Bonne), Dinjens, W.N.M. (Winand), 't Hart, N.A. (Nils A.), Hinrichs, J.W.J. (John W.J.), Leers, J. (Joerg), Monkhorst, K. (Kim), Oosterhout, M.F.M. (Matthijs) van, Scharnhorst, V., Schuuring, E. (Ed), Speel, E.J. (Ernst-Jan), Van Den Heuvel, M. (Michel), Schaik, R.H.N. (Ron) van, Thusen, J.H. (Jan) von der, Willems, S.M. (Stefan Martin), de Visser, L. (Leonie), and Ligtenberg, M.J. (Marjolijn)
Abstract: The diagnostic landscape of non-small cell lung cancer (NSCLC) is changing rapidly with the availability of novel treatments. Despite high-level healthcare in the Netherlands, not all patients with NSCLC are tested with the currently relevant predictive tumor markers that are necessary for optimal decision-making for today's available targeted or immunotherapy. An expert workshop on the molecular diagnosis of NSCLC involving pulmonary oncologists, clinical chemists, pathologists, and clinical scientists in molecular pathology was held in the Netherlands on December 10, 2018. The aims of the workshop were to facilitate cross-disciplinary discussions regarding standards of practice, and address recent developments and associated challenges that impact future practice. This paper presents a summary of the discussions and consensus opinions of the workshop participants on the initial challenges of harmonization of the detection and clinical use of predictive markers of NSCLC. A key theme identified was the need for broader and active participation of all stakeholders involved in molecular diagnostic services for NSCLC, including healthcare professionals across all disciplines, the hospitals and clinics involved in service delivery, healthcare insurers, and industry groups involved in diagnostic and treatment innovations. Such collaboration is essential to integrate different technologies into molecular diagnostics practice, to increase nationwide patient access to novel technologies, and to ensure consensus-preferred biomarkers are tested.
Published: 2020
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7. Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics

Author: Eijkelenboom, A. (Anneke), Tops, BBJ, Berg, A. (Andrea) von, Brule, A.J.C. van den, Dinjens, W.N.M. (Winand), Dubbink, H.J. (Erik Jan), van der Elst, A, Geurts-Giele, W.R.R., Groenen, P., Groenendijk, F.H. (Floris), Heideman, D.A.M. (Danielle), Huibers, M.M.H., Huijsmans, C. J. J., Jeuken, J.W.M., Kempen, L.C. (Leon), Korpershoek, E. (Esther), Kroeze, L.I., Leng, W.W.J. (Wendy) de, van Noesel, C.J.M., Speel, E.J. (Ernst-Jan), Vogel, M.J. (Maartje), Wezel, T. (Tom) van, Nederlof, P.M. (Petra), Schuuring, E. (Ed), Ligtenberg, M.J. (Marjolijn), Eijkelenboom, A. (Anneke), Tops, BBJ, Berg, A. (Andrea) von, Brule, A.J.C. van den, Dinjens, W.N.M. (Winand), Dubbink, H.J. (Erik Jan), van der Elst, A, Geurts-Giele, W.R.R., Groenen, P., Groenendijk, F.H. (Floris), Heideman, D.A.M. (Danielle), Huibers, M.M.H., Huijsmans, C. J. J., Jeuken, J.W.M., Kempen, L.C. (Leon), Korpershoek, E. (Esther), Kroeze, L.I., Leng, W.W.J. (Wendy) de, van Noesel, C.J.M., Speel, E.J. (Ernst-Jan), Vogel, M.J. (Maartje), Wezel, T. (Tom) van, Nederlof, P.M. (Petra), Schuuring, E. (Ed), and Ligtenberg, M.J. (Marjolijn)
Abstract: Next-generation sequencing (NGS) panel analysis on DNA from formalin-fixed paraffin-embedded (FFPE) tissue is increasingly used to also identify actionable copy number gains (gene amplifications) in addition to sequence variants. While guidelines for the reporting of sequence variants are available, guidance with respect to reporting copy number gains from gene-panel NGS data is limited. Here, we report on Dutch consensus recommendations obtained in the context of the national Predictive Analysis for THerapy (PATH) project, which aims to optimize and harmonize routine diagnostics in molecular pathology. We briefly di
Published: 2019
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8. In-depth assessment of metastatic prostate cancer with high tumour mutational burden

Author: Mehra, N. (N.), Riet, J. (Job) van, Smits, M. (M.), Westdorp, H. (Harm), Gorris, M. (M.), van Ee, T. (T.), van der Doelen, M. (M.), Oort, I.M. (Inge) van, Sedelaar, M. (M.), Textor, J. (J.), Cuppen, E. (Edwin), Grunberg, K. (K.), Ligtenberg, M.J. (Marjolijn), Zwart, W. (Wilbert), Bergman, A.M. (Andries), Werken, H.J.G. (Harmen) van de, Schalken, J.A. (Jack), Vries, I.J.M. (Jolanda) de, Lolkema, M.P. (Martijn), Gerritsen, W.R. (Winald), Mehra, N. (N.), Riet, J. (Job) van, Smits, M. (M.), Westdorp, H. (Harm), Gorris, M. (M.), van Ee, T. (T.), van der Doelen, M. (M.), Oort, I.M. (Inge) van, Sedelaar, M. (M.), Textor, J. (J.), Cuppen, E. (Edwin), Grunberg, K. (K.), Ligtenberg, M.J. (Marjolijn), Zwart, W. (Wilbert), Bergman, A.M. (Andries), Werken, H.J.G. (Harmen) van de, Schalken, J.A. (Jack), Vries, I.J.M. (Jolanda) de, Lolkema, M.P. (Martijn), and Gerritsen, W.R. (Winald)
Published: 2018
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9. Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

Author: Weren, R.D.A. (Robbert D. A.), Van Der Post, R.S. (Rachel S.), Vogelaar, I.P. (Ingrid P.), Van Krieken, J.H. (J. Han), Spruijt, L. (Liesbeth), Lubinski, J. (Jan), Jakubowska, A. (Anna), Teodorczyk, U. (Urszula), Aalfs, C.M. (Cora), Hest, L.P. (Liselotte) van, Oliveira, C. (Carla), Kamping, E. (Eveline), Schackert, H.K. (Hans), Ranzani, G.N. (Guglielmina N.), Gómez García, E.B. (Encarna), Hes, F.J. (Frederik), Holinski-Feder, E. (Elke), Genuardi, M. (Maurizio), Ausems, M.G.E.M. (Margreet), Sijmons, R.H. (Rolf), Wagner, A. (Anja), Kolk, L.E. (Lizet) van der, Cats, A. (Annemieke), Bjørnevoll, I. (Inga), Hoogerbrugge, N. (Nicoline), Ligtenberg, M.J. (Marjolijn), Weren, R.D.A. (Robbert D. A.), Van Der Post, R.S. (Rachel S.), Vogelaar, I.P. (Ingrid P.), Van Krieken, J.H. (J. Han), Spruijt, L. (Liesbeth), Lubinski, J. (Jan), Jakubowska, A. (Anna), Teodorczyk, U. (Urszula), Aalfs, C.M. (Cora), Hest, L.P. (Liselotte) van, Oliveira, C. (Carla), Kamping, E. (Eveline), Schackert, H.K. (Hans), Ranzani, G.N. (Guglielmina N.), Gómez García, E.B. (Encarna), Hes, F.J. (Frederik), Holinski-Feder, E. (Elke), Genuardi, M. (Maurizio), Ausems, M.G.E.M. (Margreet), Sijmons, R.H. (Rolf), Wagner, A. (Anja), Kolk, L.E. (Lizet) van der, Cats, A. (Annemieke), Bjørnevoll, I. (Inga), Hoogerbrugge, N. (Nicoline), and Ligtenberg, M.J. (Marjolijn)
Abstract: Background: In approximately 10% of all gastric cancer (GC) cases, a heritable cause is suspected. A subset of these cases have a causative germline CDH1 mutation; however, in most cases the cause remains unknown. Our objective was to assess to what extent these remaining cases may be explained by germline mutations in the novel candidate GC predisposing genes CTNNA1, MAP3K6 or MYD88. Methods: We sequenced a large cohort of unexplained young and/or familial patients with GC (n=286) without a CDH1germline mutation for germline variants affecting CTNNA1, MAP3K6 and MYD88 using a targeted next-generation sequencing approach based on single-molecule molecular inversion probes. Results: Predicted deleterious germline variants were not encountered in MYD88, but recurrently observed in CTNNA1 (n=2) and MAP3K6 (n=3) in our cohort of patients with GC. In contrast to deleterious variants in CTNNA1, deleterious variants in MAP3K6 also occur frequently in the general population. Conclusions: Based on our results MAP3K6 should no longer be considered a GC predisposition gene, whereas deleterious CTNNA1 variants are confirmed as an infrequent cause of GC susceptibility. Biallelic MYD88 germline mutations are at most a very rare cause of GC susceptibility as no additional cases were identified.
Published: 2018
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10. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Author: Vogelaar, I.P. (Ingrid P.), Van Der Post, R.S. (Rachel S.), Van Krieken, J.H. (J. Han), Spruijt, L. (Liesbeth), Zelst-Stams, W.A. van, Kets, C.M. (Marleen), Lubinski, J. (Jan), Jakubowska, A. (Anna), Teodorczyk, U. (Urszula), Aalfs, C.M. (Cora), Hest, L.P. (Liselotte) van, Pinheiro, H. (Hugo), Oliveira, C. (Carla), Jhangiani, S.N. (Shalini N.), Muzny, D. (Donna), Gibbs, R.A. (Richard A.), Lupski, J.R. (James R.), Ligt, J. (Joep) de, Vissers, L.E.L.M., Hoischen, A. (Alex), Gilissen, C. (Christian), Van De Vorst, M. (Maartje), Goeman, J.J. (Jelle), Schackert, H.K. (Hans), Ranzani, G.N. (Guglielmina N.), Molinaro, V. (Valeria), Garcia, E.B.G., Hes, F.J. (Frederik), Holinski-Feder, E. (Elke), Genuardi, M. (Maurizio), Ausems, M.G.E.M. (Margreet), Sijmons, R.H. (Rolf), Wagner, A. (Anja), Kolk, L.E. (Lizet) van der, Bjørnevoll, I. (Inga), Høberg Vetti, H. (Hildegunn), Geurts van Kessel, A.H.M. (Ad), Kuiper, R. (Ruud), Ligtenberg, M.J. (Marjolijn), Hoogerbrugge, N. (Nicoline), Vogelaar, I.P. (Ingrid P.), Van Der Post, R.S. (Rachel S.), Van Krieken, J.H. (J. Han), Spruijt, L. (Liesbeth), Zelst-Stams, W.A. van, Kets, C.M. (Marleen), Lubinski, J. (Jan), Jakubowska, A. (Anna), Teodorczyk, U. (Urszula), Aalfs, C.M. (Cora), Hest, L.P. (Liselotte) van, Pinheiro, H. (Hugo), Oliveira, C. (Carla), Jhangiani, S.N. (Shalini N.), Muzny, D. (Donna), Gibbs, R.A. (Richard A.), Lupski, J.R. (James R.), Ligt, J. (Joep) de, Vissers, L.E.L.M., Hoischen, A. (Alex), Gilissen, C. (Christian), Van De Vorst, M. (Maartje), Goeman, J.J. (Jelle), Schackert, H.K. (Hans), Ranzani, G.N. (Guglielmina N.), Molinaro, V. (Valeria), Garcia, E.B.G., Hes, F.J. (Frederik), Holinski-Feder, E. (Elke), Genuardi, M. (Maurizio), Ausems, M.G.E.M. (Margreet), Sijmons, R.H. (Rolf), Wagner, A. (Anja), Kolk, L.E. (Lizet) van der, Bjørnevoll, I. (Inga), Høberg Vetti, H. (Hildegunn), Geurts van Kessel, A.H.M. (Ad), Kuiper, R. (Ruud), Ligtenberg, M.J. (Marjolijn), and Hoogerbrugge, N. (Nicoline)
Abstract: Recognition of individuals with a genetic predisposition to gastric cancer (GC) enables preventive measures. However, the underlying cause of genetic susceptibility to gastric cancer remains largely unexplained. We performed germline whole-exome sequencing on leukocyte DNA of 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type GC to identify novel GC-predisposing candidate genes. As young age at diagnosis and familial clustering are hallmarks of genetic tumor susceptibility, we selected patients that were diagnosed below the age of 35, patients from families with two cases of GC at or below age 60 and patients from families with three GC cases at or below age 70. All included individuals were tested negative for germline CDH1 mutations before or during the study. Variants that were possibly deleterious according to in silico predictions were filtered using several independent approaches that were based on gene function and gene mutation burden in controls. Despite a rigorous search, no obvious candidate GC predisposition genes were identified. This negative result stresses the importance of future research studies in large, homogeneous cohorts.
Published: 2017
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11. Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

Author: Jongmans, M.C. (Marjolijn C.), Loeffen, J. (Jan), Waanders, E. (Esmé), Hoogerbrugge, P.M. (Peter), Ligtenberg, M.J. (Marjolijn), Kuiper, R.P. (Roland), Hoogerbrugge, N. (Nicoline), Jongmans, M.C. (Marjolijn C.), Loeffen, J. (Jan), Waanders, E. (Esmé), Hoogerbrugge, P.M. (Peter), Ligtenberg, M.J. (Marjolijn), Kuiper, R.P. (Roland), and Hoogerbrugge, N. (Nicoline)
Abstract: Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients may lead to therapy adjustments in case of syndrome-related increased toxicity or resistant disease and syndrome-specific screening programs may lead to early detection of a further independent malignancy. Cancer surveillance might also be warranted for affected relatives and detection of a genetic mutation can allow for reproductive counseling.Here we present an easy-to-use selection tool, based on a systematic review of pediatric cancer predisposing syndromes, to identify patients who may benefit from genetic counseling. The selection tool involves five questions concerning family history, the type of malignancy, multiple primary malignancies, specific features and excessive toxicity, which results in the selection of those patients that may benefit from referral to a clinical geneticist.
Published: 2016
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12. Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

Author: Vogelaar, I.P. (Ingrid P.), Ligtenberg, M.J. (Marjolijn), Van Der Post, R.S. (Rachel S.), de Voer, R.M. (Richarda M.), Kets, C.M. (Marleen), Jansen, T.J.G. (Trees J. G.), Jacobs, L. (Liesbeth), Schreibelt, G. (Gerty), Vries, I.J.M. (Jolanda) de, Netea, M.G. (Mihai), Hoogerbrugge, N. (Nicoline), Lubinski, J. (Jan), Jakubowska, A. (Anna), Teodorczyk, U. (Urszula), Schackert, H.K. (Hans), Aalfs, C.M. (Cora), Gómez García, E.B. (Encarna), Ranzani, G.N. (Guglielmina N.), Molinaro, V. (Valeria), Hest, L.P. (Liselotte) van, Hes, F.J. (Frederik), Holinski-Feder, E. (Elke), Genuardi, M. (Maurizio), Ausems, M.G.E.M. (Margreet), Sijmons, R.H. (Rolf), Wagner, A. (Anja), Kolk, L.E. (Lizet) van der, Pinheiro, H. (Hugo), Oliveira, C. (Carla), Bjørnevoll, I. (Inga), Høberg Vetti, H. (Hildegunn), Han, J., van Krieken, J.M., Vogelaar, I.P. (Ingrid P.), Ligtenberg, M.J. (Marjolijn), Van Der Post, R.S. (Rachel S.), de Voer, R.M. (Richarda M.), Kets, C.M. (Marleen), Jansen, T.J.G. (Trees J. G.), Jacobs, L. (Liesbeth), Schreibelt, G. (Gerty), Vries, I.J.M. (Jolanda) de, Netea, M.G. (Mihai), Hoogerbrugge, N. (Nicoline), Lubinski, J. (Jan), Jakubowska, A. (Anna), Teodorczyk, U. (Urszula), Schackert, H.K. (Hans), Aalfs, C.M. (Cora), Gómez García, E.B. (Encarna), Ranzani, G.N. (Guglielmina N.), Molinaro, V. (Valeria), Hest, L.P. (Liselotte) van, Hes, F.J. (Frederik), Holinski-Feder, E. (Elke), Genuardi, M. (Maurizio), Ausems, M.G.E.M. (Margreet), Sijmons, R.H. (Rolf), Wagner, A. (Anja), Kolk, L.E. (Lizet) van der, Pinheiro, H. (Hugo), Oliveira, C. (Carla), Bjørnevoll, I. (Inga), Høberg Vetti, H. (Hildegunn), Han, J., and van Krieken, J.M.
Abstract: Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.
Published: 2016
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13. Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Author: Blanco, I. (Ignacio), Kuchenbaecker, K.B. (Karoline), Cuadras, D. (Daniel), Wang, X. (Xing), Barrowdale, D. (Daniel), De Garibay, G.R. (Gorka Ruiz), Librado, P. (Pablo), Sánchez-Gracia, A. (Alejandro), Rozas, J. (Julio), Bonifaci, N. (Núria), McGuffog, L. (Lesley), Pankratz, V.S. (Shane), Islam, A.B.M.M.K. (Abul), Mateo, F. (Francesca), Berenguer, A. (Antonio), Petit, A. (Anna), Català, I. (Isabel), Brunet, J. (Joan), Feliubadaló, L. (L.), Tornero, E. (Eva), Benítez, J. (Javier), Osorio, A. (Ana), Teresa, R. (Ramón), Teresa, C. (Cajal), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Arun, B.K. (Banu), Toland, A.E. (Amanda), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Greene, M.H. (Mark), Mai, P.L. (Phuong), Nussbaum, R.L. (Robert L.), Andrulis, I.L. (Irene), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Barkardottir, R.B. (Rosa), Jakubowska, A. (Anna), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Claes, K. (Kathleen), Van Maerken, T. (Tom), Díez, O. (Orland), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Gerdes, A.-M. (Anne-Marie), Ejlertsen, B. (Bent), Hoya, M. (Miguel) de La, Caldes, T. (Trinidad), Dunning, A.M. (Alison), Oliver, C.T. (Clare), Fineberg, E. (Elena), Cook, M. (Margaret), Peock, S. (Susan), McCann, E. (Emma), Murray, A. (Alexandra), Jacobs, C. (Chris), Pichert, G. (Gabriella), Lalloo, F. (Fiona), Chu, C. (Carol), Dorkins, H. (Huw), Paterson, J. (Joan), Ong, K.-R. (Kai-Ren), Teixeira, M.R. (Manuel R.), Teixeira, T. (T.), Hogervorst, F.B.L. (Frans), Hout, A.H. (Annemarie) van der, Seynaeve, C.M. (Caroline), Van Der Luijt, R.B. (Rob B.), Ligtenberg, M.J. (Marjolijn), Devilee, P. (Peter), Wijnen, J.T. (Juul), Rookus, M.A. (Matti), Meijers-Heijboer, E.J. (Hanne), Blok, M.J. (Marinus), Ouweland, A.M.W. (Ans) van den, Aalfs, C.M. (Cora), Rodriguez, G.C. (Gustavo C.), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Nerenstone, S. (Stacy), Bae-Jump, V.L. (Victoria L.), O'Malley, D.M. (David M.), Ratner, E.S. (Elena S.), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Gehrig, P.A. (Paola A.), Bojesen, A. (Anders), Pedersen, I.S. (Inge Sokilde), Sunde, L. (Lone), Jensen, U.B., Thomassen, M. (Mads), Kruse, T.A. (Torben), Foretova, L. (Lenka), Peterlongo, P. (Paolo), Bernard, L. (Loris), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Radice, P. (Paolo), Ottini, L. (Laura), Montagna, M. (Marco), Agata, S. (Simona), Maugard, C., Simard, J. (Jacques), Soucy, P. (Penny), Berger, A. (Annemarie), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Geschwantler Kaulich, D. (Daphne), Tea, M.-K., Pfeiler, G. (Georg), John, E.M. (Esther), Miron, A. (Alexander), Neuhausen, S.L. (Susan), Terry, M.B. (Mary Beth), Chung, W.K. (Wendy K.), Daly, M.B. (Mary), Goldgar, D. (David), Janavicius, R. (Ramunas), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Fostira, F. (Florentia), Konstantopoulou, I. (I.), Garber, J., Godwin, A.K. (Andrew), Olah, E., Narod, S.A. (Steven A.), Rennert, G. (Gad), Paluch, S.S. (Shani), Laitman, Y. (Yael), Friedman, E. (Eitan), Liljegren, A. (Annelie), Rantala, J. (Johanna), Stenmark-Askmalm, M. (Marie), Loman, N. (Niklas), Imyanitov, E.N. (Evgeny), Hamann, U. (Ute), Spurdle, A.B. (Amanda), Healey, S. (Sue), Weitzel, J.N. (Jeffrey), Herzog, J. (Josef), Margileth, D. (David), Gorrini, C. (Chiara), Esteller, M. (Manel), Gómez, A. (Antonio), Sayols, S. (Sergi), Vidal, E. (Enrique), Heyn, H. (Holger), Stoppa-Lyonnet, D. (Dominique), Léone, M. (Mélanie), Barjhoux, L. (Laure), Fassy-Colcombet, M. (Marion), Pauw, A. (Antoine) de, Lasset, C. (Christine), Ferrer, S.F., Castera, L. (Laurent), Berthet, P. (Pascaline), Cornelis, F. (Franco̧is), Bignon, Y.-J. (Yves-Jean), Damiola, F. (Francesca), Mazoyer, S. (Sylvie), Sinilnikova, O. (Olga), Maxwell, C.A. (Christopher), Vijai, J. (Joseph), Robson, M. (Mark), Kauff, N. (Noah), Corines, M.J. (Marina J.), Villano, D. (Danylko), Cunningham, J.M. (Julie), Lee, A. (Adam), Lindor, N.M. (Noralane), Lázaro, C. (Conxi), Easton, D.F. (Douglas), Offit, K. (Kenneth), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Antoniou, A.C. (Antonis C.), Pujana, M.A. (Miguel), Blanco, I. (Ignacio), Kuchenbaecker, K.B. (Karoline), Cuadras, D. (Daniel), Wang, X. (Xing), Barrowdale, D. (Daniel), De Garibay, G.R. (Gorka Ruiz), Librado, P. (Pablo), Sánchez-Gracia, A. (Alejandro), Rozas, J. (Julio), Bonifaci, N. (Núria), McGuffog, L. (Lesley), Pankratz, V.S. (Shane), Islam, A.B.M.M.K. (Abul), Mateo, F. (Francesca), Berenguer, A. (Antonio), Petit, A. (Anna), Català, I. (Isabel), Brunet, J. (Joan), Feliubadaló, L. (L.), Tornero, E. (Eva), Benítez, J. (Javier), Osorio, A. (Ana), Teresa, R. (Ramón), Teresa, C. (Cajal), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Arun, B.K. (Banu), Toland, A.E. (Amanda), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Greene, M.H. (Mark), Mai, P.L. (Phuong), Nussbaum, R.L. (Robert L.), Andrulis, I.L. (Irene), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Barkardottir, R.B. (Rosa), Jakubowska, A. (Anna), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Claes, K. (Kathleen), Van Maerken, T. (Tom), Díez, O. (Orland), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Gerdes, A.-M. (Anne-Marie), Ejlertsen, B. (Bent), Hoya, M. (Miguel) de La, Caldes, T. (Trinidad), Dunning, A.M. (Alison), Oliver, C.T. (Clare), Fineberg, E. (Elena), Cook, M. (Margaret), Peock, S. (Susan), McCann, E. (Emma), Murray, A. (Alexandra), Jacobs, C. (Chris), Pichert, G. (Gabriella), Lalloo, F. (Fiona), Chu, C. (Carol), Dorkins, H. (Huw), Paterson, J. (Joan), Ong, K.-R. (Kai-Ren), Teixeira, M.R. (Manuel R.), Teixeira, T. (T.), Hogervorst, F.B.L. (Frans), Hout, A.H. (Annemarie) van der, Seynaeve, C.M. (Caroline), Van Der Luijt, R.B. (Rob B.), Ligtenberg, M.J. (Marjolijn), Devilee, P. (Peter), Wijnen, J.T. (Juul), Rookus, M.A. (Matti), Meijers-Heijboer, E.J. (Hanne), Blok, M.J. (Marinus), Ouweland, A.M.W. (Ans) van den, Aalfs, C.M. (Cora), Rodriguez, G.C. (Gustavo C.), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Nerenstone, S. (Stacy), Bae-Jump, V.L. (Victoria L.), O'Malley, D.M. (David M.), Ratner, E.S. (Elena S.), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Gehrig, P.A. (Paola A.), Bojesen, A. (Anders), Pedersen, I.S. (Inge Sokilde), Sunde, L. (Lone), Jensen, U.B., Thomassen, M. (Mads), Kruse, T.A. (Torben), Foretova, L. (Lenka), Peterlongo, P. (Paolo), Bernard, L. (Loris), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Radice, P. (Paolo), Ottini, L. (Laura), Montagna, M. (Marco), Agata, S. (Simona), Maugard, C., Simard, J. (Jacques), Soucy, P. (Penny), Berger, A. (Annemarie), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Geschwantler Kaulich, D. (Daphne), Tea, M.-K., Pfeiler, G. (Georg), John, E.M. (Esther), Miron, A. (Alexander), Neuhausen, S.L. (Susan), Terry, M.B. (Mary Beth), Chung, W.K. (Wendy K.), Daly, M.B. (Mary), Goldgar, D. (David), Janavicius, R. (Ramunas), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Fostira, F. (Florentia), Konstantopoulou, I. (I.), Garber, J., Godwin, A.K. (Andrew), Olah, E., Narod, S.A. (Steven A.), Rennert, G. (Gad), Paluch, S.S. (Shani), Laitman, Y. (Yael), Friedman, E. (Eitan), Liljegren, A. (Annelie), Rantala, J. (Johanna), Stenmark-Askmalm, M. (Marie), Loman, N. (Niklas), Imyanitov, E.N. (Evgeny), Hamann, U. (Ute), Spurdle, A.B. (Amanda), Healey, S. (Sue), Weitzel, J.N. (Jeffrey), Herzog, J. (Josef), Margileth, D. (David), Gorrini, C. (Chiara), Esteller, M. (Manel), Gómez, A. (Antonio), Sayols, S. (Sergi), Vidal, E. (Enrique), Heyn, H. (Holger), Stoppa-Lyonnet, D. (Dominique), Léone, M. (Mélanie), Barjhoux, L. (Laure), Fassy-Colcombet, M. (Marion), Pauw, A. (Antoine) de, Lasset, C. (Christine), Ferrer, S.F., Castera, L. (Laurent), Berthet, P. (Pascaline), Cornelis, F. (Franco̧is), Bignon, Y.-J. (Yves-Jean), Damiola, F. (Francesca), Mazoyer, S. (Sylvie), Sinilnikova, O. (Olga), Maxwell, C.A. (Christopher), Vijai, J. (Joseph), Robson, M. (Mark), Kauff, N. (Noah), Corines, M.J. (Marina J.), Villano, D. (Danylko), Cunningham, J.M. (Julie), Lee, A. (Adam), Lindor, N.M. (Noralane), Lázaro, C. (Conxi), Easton, D.F. (Douglas), Offit, K. (Kenneth), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Antoniou, A.C. (Antonis C.), and Pujana, M.A. (Miguel)
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 appro
Published: 2015
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14. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Author: Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. (A.), Lázaro, C. (Conxi), Brunet, J. (Joan), Pujana, M.A. (Miguel), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Narod, S. (Steven), Herzog, J. (Josef), Sand, S.R. (Sharon), Tognazzo, S. (Silvia), Agata, S. (Simona), Vaszko, T. (Tibor), Weaver, J. (JoEllen), Stavropoulou, A. (Alexandra), Buys, S.S. (Saundra), Romero, A. (Alfonso), Hoya, M. (Miguel) de La, Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Durán, M. (Mercedes), Chung, W.K. (Wendy), Lasa, A. (Adriana), Dorfling, C.M. (Cecelia), Miron, A. (Alexander), Benítez, J. (Javier), Senter, L. (Leigha), Huo, D. (Dezheng), Chan, S. (Salina), Sokolenko, A. (Anna), Chiquette, J. (Jocelyne), Tihomirova, L. (Laima), Friebel, M.O.W. (Mark ), Agnarsson, B.A. (Bjarni), Lu, K.H. (Karen), Lejbkowicz, F. (Flavio), James, P.A. (Paul ), Hall, A.S. (Alistair), Dunning, A.M. (Alison), Tessier, Y. (Yann), Cunningham, J. (Jane), Slager, S. (Susan), Wang, C. (Chen), Hart, S. (Stewart), Stevens, K. (Kristen), Simard, J. (Jacques), Pastinen, T. (Tomi), Pankratz, V.S. (Shane), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Thorne, H. (Heather), Niedermayr, E. (Eveline), Borg, Å. (Åke), Olsson, H., Jernström, H. (H.), Henriksson, K. (Karin), Harbst, K. (Katja), Soller, M. (Maria), Kristoffersson, U. (Ulf), Wang, X. (Xianshu), Öfverholm, A. (Anna), Nordling, M. (Margareta), Karlsson, P. (Per), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Lindblom, A. (Annika), Bustinza, G.B., Rantala, J. (Johanna), Melin, B. (Beatrice), Ardnor, C.E. (Christina Edwinsdotter), Emanuelsson, M. (Monica), Ehrencrona, H. (Hans), Pigg, M.H. (Maritta ), Liedgren, S. (Sigrun), Rookus, M.A. (M.), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gomez Garcia, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Anna), Kennedy, M.J. (John), Barton, D.E. (David), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Brady, A.F. (Angela), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Lalloo, F. (Fiona), Taylor, J. (James), Male, A. (Alison), Berlin, C. (Cheryl), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Stormorken, A. (Astrid), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Barjhoux, L. (Laure), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Buecher, B. (Bruno), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Handallou, S. (Sandrine), hardouin, A. (Agnès), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Lidereau, R. (Rosette), Demange, L. (Liliane), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Lebrun, M. (Marine), Kientz, C. (Caroline), Ferrer, S.F., Frenay, M. (Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), Dite, G.S. (Gillian), Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. (A.), Lázaro, C. (Conxi), Brunet, J. (Joan), Pujana, M.A. (Miguel), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Narod, S. (Steven), Herzog, J. (Josef), Sand, S.R. (Sharon), Tognazzo, S. (Silvia), Agata, S. (Simona), Vaszko, T. (Tibor), Weaver, J. (JoEllen), Stavropoulou, A. (Alexandra), Buys, S.S. (Saundra), Romero, A. (Alfonso), Hoya, M. (Miguel) de La, Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Durán, M. (Mercedes), Chung, W.K. (Wendy), Lasa, A. (Adriana), Dorfling, C.M. (Cecelia), Miron, A. (Alexander), Benítez, J. (Javier), Senter, L. (Leigha), Huo, D. (Dezheng), Chan, S. (Salina), Sokolenko, A. (Anna), Chiquette, J. (Jocelyne), Tihomirova, L. (Laima), Friebel, M.O.W. (Mark ), Agnarsson, B.A. (Bjarni), Lu, K.H. (Karen), Lejbkowicz, F. (Flavio), James, P.A. (Paul ), Hall, A.S. (Alistair), Dunning, A.M. (Alison), Tessier, Y. (Yann), Cunningham, J. (Jane), Slager, S. (Susan), Wang, C. (Chen), Hart, S. (Stewart), Stevens, K. (Kristen), Simard, J. (Jacques), Pastinen, T. (Tomi), Pankratz, V.S. (Shane), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Thorne, H. (Heather), Niedermayr, E. (Eveline), Borg, Å. (Åke), Olsson, H., Jernström, H. (H.), Henriksson, K. (Karin), Harbst, K. (Katja), Soller, M. (Maria), Kristoffersson, U. (Ulf), Wang, X. (Xianshu), Öfverholm, A. (Anna), Nordling, M. (Margareta), Karlsson, P. (Per), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Lindblom, A. (Annika), Bustinza, G.B., Rantala, J. (Johanna), Melin, B. (Beatrice), Ardnor, C.E. (Christina Edwinsdotter), Emanuelsson, M. (Monica), Ehrencrona, H. (Hans), Pigg, M.H. (Maritta ), Liedgren, S. (Sigrun), Rookus, M.A. (M.), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gomez Garcia, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Anna), Kennedy, M.J. (John), Barton, D.E. (David), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Brady, A.F. (Angela), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Lalloo, F. (Fiona), Taylor, J. (James), Male, A. (Alison), Berlin, C. (Cheryl), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Stormorken, A. (Astrid), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Barjhoux, L. (Laure), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Buecher, B. (Bruno), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Handallou, S. (Sandrine), hardouin, A. (Agnès), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Lidereau, R. (Rosette), Demange, L. (Liliane), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Lebrun, M. (Marine), Kientz, C. (Caroline), Ferrer, S.F., Frenay, M. (Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), and Dite, G.S. (Gillian)
Abstract: BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associati
Published: 2013
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15. Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

Author: Kircchoff, T. (Tomas), Offit, K. (Kenneth), Gaudet, M.M. (Mia), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Humphreys, M.K. (Manjeet), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Burwinkel, B. (Barbara), Meindl, A. (Alfons), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Brüning, T. (Thomas), Pesch, B. (Beate), Harth, V. (Volker), Rabstein, S. (Sylvia), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Veer, L.J. (Laura) van 't, Braaf, L.M. (Linde), Johnson, N. (Nichola), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Peto, J. (Julian), Turnbull, C. (Clare), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hsiung, C.-N. (Chia-Ni), Shen, C-Y. (Chen-Yang), Southey, M.C. (Melissa), Hopper, J.L. (John), Hammet, F. (Fleur), Dorpe, T. (Thijs) van, Dieudonné, A.-S. (Anne-Sophie), Hatse, S. (Sigrid), Lambrechts, D. (Diether), Andrulis, I.L. (Irene), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, J.I. (Juri), Prokofieva, D. (Daria), Bermisheva, M. (Marina), Khusnutdinova, E.K. (Elza), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Devilee, P. (Peter), Margolin, S. (Sara), Lindblom, A. (Annika), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Severi, G. (Gianluca), Baglietto, L. (Laura), Giles, G.G. (Graham), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Holland, H. (Helene), Healey, S. (Sue), Wang-Gohrke, S. (Shan), Chang-Claude, J. (Jenny), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kauppinen, J. (Jaana), Kataja, V. (Vesa), Agnarsson, B.A. (Bjarni), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Loman, N. (Niklas), Karlsson, P. (Per), Askmalm, M.S. (Marie), Melin, B. (Beatrice), Wachenfeldt, A. (Anna) von, Hogervorst, F.B.L. (Frans), Verheus, M. (Martijn), Rookus, M.A. (Matti), Seynaeve, C.M. (Caroline), Oldenburg, R.A. (Rogier), Ligtenberg, M.J. (Marjolijn), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, H.J.P. (Hans), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Luccarini, C. (Craig), Pichert, G. (Gabriella), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Cook, J. (Jackie), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Gold, B. (Bert), Wang, X. (Xianshu), Chu, C. (Carol), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Gaudet, M.M. (Mia), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Humphreys, M.K. (Manjeet), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Burwinkel, B. (Barbara), Meindl, A. (Alfons), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Brüning, T. (Thomas), Pesch, B. (Beate), Harth, V. (Volker), Rabstein, S. (Sylvia), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Veer, L.J. (Laura) van 't, Braaf, L.M. (Linde), Johnson, N. (Nichola), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Peto, J. (Julian), Turnbull, C. (Clare), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hsiung, C.-N. (Chia-Ni), Shen, C-Y. (Chen-Yang), Southey, M.C. (Melissa), Hopper, J.L. (John), Hammet, F. (Fleur), Dorpe, T. (Thijs) van, Dieudonné, A.-S. (Anne-Sophie), Hatse, S. (Sigrid), Lambrechts, D. (Diether), Andrulis, I.L. (Irene), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, J.I. (Juri), Prokofieva, D. (Daria), Bermisheva, M. (Marina), Khusnutdinova, E.K. (Elza), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Devilee, P. (Peter), Margolin, S. (Sara), Lindblom, A. (Annika), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Severi, G. (Gianluca), Baglietto, L. (Laura), Giles, G.G. (Graham), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Holland, H. (Helene), Healey, S. (Sue), Wang-Gohrke, S. (Shan), Chang-Claude, J. (Jenny), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kauppinen, J. (Jaana), Kataja, V. (Vesa), Agnarsson, B.A. (Bjarni), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Loman, N. (Niklas), Karlsson, P. (Per), Askmalm, M.S. (Marie), Melin, B. (Beatrice), Wachenfeldt, A. (Anna) von, Hogervorst, F.B.L. (Frans), Verheus, M. (Martijn), Rookus, M.A. (Matti), Seynaeve, C.M. (Caroline), Oldenburg, R.A. (Rogier), Ligtenberg, M.J. (Marjolijn), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, H.J.P. (Hans), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Luccarini, C. (Craig), Pichert, G. (Gabriella), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Cook, J. (Jackie), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Gold, B. (Bert), Wang, X. (Xianshu), and Chu, C. (Carol)
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I2 = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012
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16. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author: Antoniou, A.C. (Antonis), Kartsonaki, C. (Christiana), Sinilnikova, O. (Olga), Soucy, P. (Penny), McGuffog, L. (Lesley), Healey, S. (Sue), Lee, A. (Andrew), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Cattaneo, E. (Elisa), Barile, M. (Monica), Pensotti, V. (Valeria), Pasini, B. (Barbara), Dolcetti, R. (Riccardo), Giannini, G. (Giuseppe), Putignano, A.L., Varesco, L. (Liliana), Radice, P. (Paolo), Mai, P.L. (Phuong), Greene, M.H. (Mark), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Thomassen, M. (Mads), Gerdes, A-M. (Anne-Marie), Kruse, T.A. (Torben), Jensen, U.B., Cruger, D. (Dorthe), Caligo, M.A. (Maria), Laitman, Y. (Yael), Milgrom, R. (Roni), Kaufman, B. (Bella), Paluch-Shimon, S. (Shani), Friedman, E. (Eitan), Loman, N. (Niklas), Harbst, K. (Katja), Lindblom, A. (Annika), Melin, B. (Beatrice), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Cybulski, C. (Cezary), Górski, B. (Bohdan), Osorio, A. (Ana), Cajal, T.R., Fostira, F. (Florentia), Andres, R. (Raquel), Benitez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Nelen, M.R. (Marcel), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Asperen, C.J. (Christi) van, Devilee, P. (Peter), Meijers-Heijboer, H. (Hanne), Garcia, E.B.G., Peock, S. (Susan), Cook, M. (Margaret), Frost, D., Platte, R. (Radka), Leyland, J. (Jean), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R., Douglas, F. (Fiona), Paterson, J. (Joan), Kennedy, M.J. (John), Miedzybrodzka, Z. (Zosia), Godwin, A.K. (Andrew), Stoppa-Lyonnet, D. (Dominique), Buecher, B. (Bruno), Belotti, M. (Muriel), Tirapo, C. (Carole), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Lasset, C. (Christine), Leroux, D. (Dominique), Faivre, L. (Laurence), Bronner, M. (Myriam), Prieur, F. (Fabienne), Nogues, C. (Catherine), Rouleau, E. (Etienne), Pujol, P. (Pascal), Coupier, I. (Isabelle), Frenay, M. (Marc), Hopper, J. (John), Daly, M.J. (Mark), Terry, M-B. (Mary-beth), John, E.M. (Esther), Buys, S.S. (Saundra), Yassin, Y. (Yosuf), Miron, A. (Alexander), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Pfeiler, G. (Georg), Dressler, C. (Catherina), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Barkardottir, R.B. (Rosa), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Piedmonte, M. (Marion), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Boggess, J.F. (John), Blank, S.V. (Stephanie), Basil, J. (Jack), Azodi, M. (Masoud), Toland, A.E. (Amanda), Montagna, M. (Marco), Tognazzo, S. (Silvia), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Pharoah, P.D.P. (Paul), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Olah, E. (Edith), Bozsik, A. (Aniko), Teo, S.-H. (Soo-Hwang), Seldon, J.L. (Joyce), Beattie, M.S. (Mary), Rensburg, E.J. (Elizabeth) van, Sluiter, M.D. (Michelle), Diez, O. (Orland), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Engel, C. (Christoph), Meindl, A. (Alfons), Ruehl, I. (Ina), Varon-Mateeva, R. (Raymonda), Kast, K. (Karin), Deissler, H. (Helmut), Niederacher, D. (Dieter), Arnold, N. (Norbert), Gadzicki, D. (Dorothea), Schönbuchner, I. (Ines), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Dumont, M. (Martine), Chiquette, J. (Jocelyne), Tischkowitz, M. (Marc), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Spurdle, A.B. (Amanda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Fredericksen, Z. (Zachary), Wang, X. (Xing), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Simard, J. (Jacques), Easton, D.F. (Douglas), Karlsson, P. (Per), Nordling, M. (Margareta), Bergman, A. (Annika), Einbeigi, Z. (Zakaria), Stenmark-Askmalm, M. (M.), Liedgren, S. (Sigrun), Borg, Å. (Åke), Olsson, H. (Hans), Kristoffersson, U. (Ulf), Jernström, H. (H.), Henriksson, K. (Karin), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Barbany-Bustinza, G. (Gisela), Rantala, J. (Johanna), Grönberg, H. (Henrik), Stattin, E.-L., Emanuelsson, M. (Monica), Brandell, R.R., Dahl, N. (Niklas), Verhoef, S., Verheus, M. (Martijn), Veer, L.J. (Laura) van 't, Leeuwen, F.E. (Flora) van, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Seynaeve, C.M. (Caroline), Wijnen, J.T. (Juul), Vreeswijk, M.P. (Maaike), Tollenaar, R.A.E.M. (Rob), Ligtenberg, M.J. (Marjolijn), Hoogerbrugge, N. (Nicoline), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, J.J.P. (Jan), Waisfisz, Q. (Quinten), Gómez García, E.B. (Encarna), Roozendaal, C.E. (Cees) van, Blok, M.J. (Marinus), Caanen, B., Oosterwijk, J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J., Vasen, H.F. (Hans), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), McKeown, C. (Carole), Hoffman, J. (Jonathan), Donaldson, A. (Alan), Downing, S. (Sarah), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Hill, K. (Kathryn), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Whaite, A. (Anna), Dorkins, H. (Huw), Barwell, J. (Julian), Chu, C. (Chengbin), Miller, J. (Julie), Ellis, I.O. (Ian), Houghton, C. (Catherine), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Bancroft, E.K. (Elizabeth), D'Mello, L. (Lucia), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Mitra, A. (Anita), Robertson, L. (Lisa), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Ehrencrona, H. (Hans), Hodgson, S.V. (Shirley), Barton, D.E. (David), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lucassen, A. (Anneke), Crawford, G. (Gillian), McBride, D. (Donna), Smalley, S. (Sarah), Adlard, J.W. (Julian), Arver, B. (Brita Wasteson), Antoniou, A.C. (Antonis), Kartsonaki, C. (Christiana), Sinilnikova, O. (Olga), Soucy, P. (Penny), McGuffog, L. (Lesley), Healey, S. (Sue), Lee, A. (Andrew), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Cattaneo, E. (Elisa), Barile, M. (Monica), Pensotti, V. (Valeria), Pasini, B. (Barbara), Dolcetti, R. (Riccardo), Giannini, G. (Giuseppe), Putignano, A.L., Varesco, L. (Liliana), Radice, P. (Paolo), Mai, P.L. (Phuong), Greene, M.H. (Mark), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Thomassen, M. (Mads), Gerdes, A-M. (Anne-Marie), Kruse, T.A. (Torben), Jensen, U.B., Cruger, D. (Dorthe), Caligo, M.A. (Maria), Laitman, Y. (Yael), Milgrom, R. (Roni), Kaufman, B. (Bella), Paluch-Shimon, S. (Shani), Friedman, E. (Eitan), Loman, N. (Niklas), Harbst, K. (Katja), Lindblom, A. (Annika), Melin, B. (Beatrice), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Cybulski, C. (Cezary), Górski, B. (Bohdan), Osorio, A. (Ana), Cajal, T.R., Fostira, F. (Florentia), Andres, R. (Raquel), Benitez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Nelen, M.R. (Marcel), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Asperen, C.J. (Christi) van, Devilee, P. (Peter), Meijers-Heijboer, H. (Hanne), Garcia, E.B.G., Peock, S. (Susan), Cook, M. (Margaret), Frost, D., Platte, R. (Radka), Leyland, J. (Jean), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R., Douglas, F. (Fiona), Paterson, J. (Joan), Kennedy, M.J. (John), Miedzybrodzka, Z. (Zosia), Godwin, A.K. (Andrew), Stoppa-Lyonnet, D. (Dominique), Buecher, B. (Bruno), Belotti, M. (Muriel), Tirapo, C. (Carole), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Lasset, C. (Christine), Leroux, D. (Dominique), Faivre, L. (Laurence), Bronner, M. (Myriam), Prieur, F. (Fabienne), Nogues, C. (Catherine), Rouleau, E. (Etienne), Pujol, P. (Pascal), Coupier, I. (Isabelle), Frenay, M. (Marc), Hopper, J. (John), Daly, M.J. (Mark), Terry, M-B. (Mary-beth), John, E.M. (Esther), Buys, S.S. (Saundra), Yassin, Y. (Yosuf), Miron, A. (Alexander), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Pfeiler, G. (Georg), Dressler, C. (Catherina), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Barkardottir, R.B. (Rosa), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Piedmonte, M. (Marion), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Boggess, J.F. (John), Blank, S.V. (Stephanie), Basil, J. (Jack), Azodi, M. (Masoud), Toland, A.E. (Amanda), Montagna, M. (Marco), Tognazzo, S. (Silvia), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Pharoah, P.D.P. (Paul), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Olah, E. (Edith), Bozsik, A. (Aniko), Teo, S.-H. (Soo-Hwang), Seldon, J.L. (Joyce), Beattie, M.S. (Mary), Rensburg, E.J. (Elizabeth) van, Sluiter, M.D. (Michelle), Diez, O. (Orland), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Engel, C. (Christoph), Meindl, A. (Alfons), Ruehl, I. (Ina), Varon-Mateeva, R. (Raymonda), Kast, K. (Karin), Deissler, H. (Helmut), Niederacher, D. (Dieter), Arnold, N. (Norbert), Gadzicki, D. (Dorothea), Schönbuchner, I. (Ines), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Dumont, M. (Martine), Chiquette, J. (Jocelyne), Tischkowitz, M. (Marc), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Spurdle, A.B. (Amanda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Fredericksen, Z. (Zachary), Wang, X. (Xing), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Simard, J. (Jacques), Easton, D.F. (Douglas), Karlsson, P. (Per), Nordling, M. (Margareta), Bergman, A. (Annika), Einbeigi, Z. (Zakaria), Stenmark-Askmalm, M. (M.), Liedgren, S. (Sigrun), Borg, Å. (Åke), Olsson, H. (Hans), Kristoffersson, U. (Ulf), Jernström, H. (H.), Henriksson, K. (Karin), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Barbany-Bustinza, G. (Gisela), Rantala, J. (Johanna), Grönberg, H. (Henrik), Stattin, E.-L., Emanuelsson, M. (Monica), Brandell, R.R., Dahl, N. (Niklas), Verhoef, S., Verheus, M. (Martijn), Veer, L.J. (Laura) van 't, Leeuwen, F.E. (Flora) van, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Seynaeve, C.M. (Caroline), Wijnen, J.T. (Juul), Vreeswijk, M.P. (Maaike), Tollenaar, R.A.E.M. (Rob), Ligtenberg, M.J. (Marjolijn), Hoogerbrugge, N. (Nicoline), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, J.J.P. (Jan), Waisfisz, Q. (Quinten), Gómez García, E.B. (Encarna), Roozendaal, C.E. (Cees) van, Blok, M.J. (Marinus), Caanen, B., Oosterwijk, J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J., Vasen, H.F. (Hans), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), McKeown, C. (Carole), Hoffman, J. (Jonathan), Donaldson, A. (Alan), Downing, S. (Sarah), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Hill, K. (Kathryn), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Whaite, A. (Anna), Dorkins, H. (Huw), Barwell, J. (Julian), Chu, C. (Chengbin), Miller, J. (Julie), Ellis, I.O. (Ian), Houghton, C. (Catherine), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Bancroft, E.K. (Elizabeth), D'Mello, L. (Lucia), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Mitra, A. (Anita), Robertson, L. (Lisa), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Ehrencrona, H. (Hans), Hodgson, S.V. (Shirley), Barton, D.E. (David), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lucassen, A. (Anneke), Crawford, G. (Gillian), McBride, D. (Donna), Smalley, S. (Sarah), Adlard, J.W. (Julian), and Arver, B. (Brita Wasteson)
Abstract: Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r2= 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 × 10-9for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10-8for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
Published: 2011
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17. Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

Author: Osorio, A. (Ana), Milne, R.L. (Roger), Pallás-Alonso, C.R. (Carmen), Pita, G. (Guillermo), Peterlongo, P. (Paolo), Teulé, A. (A.), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Lasa, A. (Adriana), Konstantopoulou, I. (I.), Hogervorst, F.B.L. (Frans), Verhoef, S. (Senno), Dooren, M.F. (Marieke) van, Jager, A. (Agnes), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Asperen, C.J. (Christi) van, Vreeswijk, M.P. (Maaike), Waisfisz, Q. (Quinten), Roozendaal, C.E.P. (Cornelis) van, Ligtenberg, M.J. (Marjolijn), Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M.S. (Matthew), Oliver, C.T. (C. T.), Frost, D. (Debra), Curzon, B. (B.), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Davidson, R. (Rosemarie), Adlard, J.W. (Julian), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Douglas, F. (Fiona), Downing, S. (S.), Brewer, C. (C.), Walker, L.J. (Lisa), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Couch, F.J. (Fergus), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Godwin, A.K. (Andrew), Isaacs, C. (Claudine), Caligo, M.A. (Maria), Loman, N. (Niklas), Jernström, H. (H.), Barbany-Bustinza, G. (Gisela), Liljegren, A. (Annelie), Ehrencrona, H. (Hans), Stenmark-Askmalm, M. (M.), Feliubadaló, L. (L.), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Bonnani, B. (Bernardo), Fortuzzi, S. (S.), Johannson, O.T. (Oskar), Chenevix-Trench, G. (Georgia), Chen, X.C. (X. C.), Beesley, J. (Jonathan), Spurdle, A.B. (Amanda), Sinilnikova, O. (Olga), Healey, S. (Sue), McGuffog, L. (Lesley), Antoniou, A.C. (Antonis), Brunet, J. (Joan), Radice, P. (Paolo), Benítez, J. (Javier), Osorio, A. (Ana), Milne, R.L. (Roger), Pallás-Alonso, C.R. (Carmen), Pita, G. (Guillermo), Peterlongo, P. (Paolo), Teulé, A. (A.), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Lasa, A. (Adriana), Konstantopoulou, I. (I.), Hogervorst, F.B.L. (Frans), Verhoef, S. (Senno), Dooren, M.F. (Marieke) van, Jager, A. (Agnes), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Asperen, C.J. (Christi) van, Vreeswijk, M.P. (Maaike), Waisfisz, Q. (Quinten), Roozendaal, C.E.P. (Cornelis) van, Ligtenberg, M.J. (Marjolijn), Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M.S. (Matthew), Oliver, C.T. (C. T.), Frost, D. (Debra), Curzon, B. (B.), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Davidson, R. (Rosemarie), Adlard, J.W. (Julian), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Douglas, F. (Fiona), Downing, S. (S.), Brewer, C. (C.), Walker, L.J. (Lisa), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Couch, F.J. (Fergus), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Godwin, A.K. (Andrew), Isaacs, C. (Claudine), Caligo, M.A. (Maria), Loman, N. (Niklas), Jernström, H. (H.), Barbany-Bustinza, G. (Gisela), Liljegren, A. (Annelie), Ehrencrona, H. (Hans), Stenmark-Askmalm, M. (M.), Feliubadaló, L. (L.), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Bonnani, B. (Bernardo), Fortuzzi, S. (S.), Johannson, O.T. (Oskar), Chenevix-Trench, G. (Georgia), Chen, X.C. (X. C.), Beesley, J. (Jonathan), Spurdle, A.B. (Amanda), Sinilnikova, O. (Olga), Healey, S. (Sue), McGuffog, L. (Lesley), Antoniou, A.C. (Antonis), Brunet, J. (Joan), Radice, P. (Paolo), and Benítez, J. (Javier)
Abstract: Background: Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes BRCA1 and BRCA2. The base excision repair (BER) pathway could be particularly interesting given the relation of synthetic lethality that exists between one of the components of the pathway, PARP1, and both BRCA1 and BRCA2. In this study, we have evaluated the XRCC1 gene that participates in the BER pathway, as phenotypic modifier of BRCA1 and BRCA2. Methods: Three common SNPs in the gene, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487) were analysed in a series of 701 BRCA1 and 576 BRCA2 mutation carriers. Results: An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3-34, P<0.001). This association was further tested in a second series of 4480 BRCA1 and 3016 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2.Conclusions and inteNo evidence of association was found when the larger series was analysed which lead us to conclude that none of the three SNPs are significant modifiers of breast cancer risk for mutation carriers.
Published: 2011
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18. Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Author: Maxwell, C.A. (Christopher), Benitez, J. (Javier), Gómez-Baldó, L. (Laia), Osorio, A. (Ana), Bonifaci, N. (Núria), Fernández-Ramires, R. (Ricardo), Costes, S.V. (Sylvain), Guinó, E. (Elisabet), Chen, H. (Helen), Evans, G.J.R. (Gareth), Mohan, P. (Pooja), Català, I. (Isabel), Petit, A. (Anna), Aguilar, H. (Helena), Villanueva, A. (Alberto), Aytes, A. (Alvaro), Serra-Musach, J. (Jordi), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Ripamonti, C.B. (Carla), Bonnani, B. (Bernardo), Viel, A. (Alessandra), Allavena, A. (Anna), Bernard, L. (Loris), Radice, P. (Paolo), Friedman, E. (Eitan), Kaufman, B. (Bella), Laitman, Y. (Yael), Dubrovsky, M. (Maya), Milgrom, R. (Roni), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Górski, B. (Bohdan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Lubinski, J. (Jan), Shugart, Y.Y., Domchek, S.M. (Susan), Letrero, R. (Richard), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Collée, J.M. (Margriet), Devilee, P. (Peter), Ligtenberg, M.J. (Marjolijn), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Wijnen, J.T. (Juul), Roozendaal, C.E.P. (Cornelis) van, Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), harrington, P. (Patricia), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Eccles, D. (Diana), Douglas, F. (Fiona), Brewer, C. (Carole), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Wang, X. (Xing), Godwin, A.K. (Andrew), Caligo, M.A. (Maria), Lombardi, G. (Grazia), Loman, N. (Niklas), Karlsson, P. (Per), Ehrencrona, H. (Hans), Wachenfeldt, A. (Anna) von, Barkardottir, R.B. (Rosa), Hamann, U. (Ute), Rashid, M.U. (Muhammad), Lasa, A. (Adriana), Caldes, T. (Trinidad), Andres, R. (Raquel), Schmitt, M. (Michael), Assmann, V. (Volker), Stevens, K. (Kristen), Offit, K. (Kenneth), Curado, J. (João), Tilgner, H. (Hagen), Guigó, R. (Roderic), Aiza, G. (Gemma), Brunet, J. (Joan), Castellsagué, J. (Joan), Martrat, G. (Griselda), Urruticoechea, A. (Ander), Blanco, I. (Ignacio), Tihomirova, L. (Laima), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Deissler, H. (Helmut), Varon-Mateeva, R. (Raymonda), Sutter, C. (Christian), Niederacher, D. (Dieter), Imyamitov, E. (Evgeny), Sinilnikova, O. (Olga), Stoppa-Lyonne, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Healey, S. (Sue), Barcellos-Hoff, M.H., Vidal, M. (Marc), Gruber, S.B. (Stephen), Lázaro, C. (Conxi), Capellá, G. (Gabriel), McGuffog, L. (Lesley), Nathanson, K.L. (Katherine), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Fleisch, M.C. (Markus), Moreno, V. (Víctor), Pujana, M.A., Weber, B.L. (Barbara), Maxwell, C.A. (Christopher), Benitez, J. (Javier), Gómez-Baldó, L. (Laia), Osorio, A. (Ana), Bonifaci, N. (Núria), Fernández-Ramires, R. (Ricardo), Costes, S.V. (Sylvain), Guinó, E. (Elisabet), Chen, H. (Helen), Evans, G.J.R. (Gareth), Mohan, P. (Pooja), Català, I. (Isabel), Petit, A. (Anna), Aguilar, H. (Helena), Villanueva, A. (Alberto), Aytes, A. (Alvaro), Serra-Musach, J. (Jordi), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Ripamonti, C.B. (Carla), Bonnani, B. (Bernardo), Viel, A. (Alessandra), Allavena, A. (Anna), Bernard, L. (Loris), Radice, P. (Paolo), Friedman, E. (Eitan), Kaufman, B. (Bella), Laitman, Y. (Yael), Dubrovsky, M. (Maya), Milgrom, R. (Roni), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Górski, B. (Bohdan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Lubinski, J. (Jan), Shugart, Y.Y., Domchek, S.M. (Susan), Letrero, R. (Richard), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Collée, J.M. (Margriet), Devilee, P. (Peter), Ligtenberg, M.J. (Marjolijn), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Wijnen, J.T. (Juul), Roozendaal, C.E.P. (Cornelis) van, Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), harrington, P. (Patricia), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Eccles, D. (Diana), Douglas, F. (Fiona), Brewer, C. (Carole), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Wang, X. (Xing), Godwin, A.K. (Andrew), Caligo, M.A. (Maria), Lombardi, G. (Grazia), Loman, N. (Niklas), Karlsson, P. (Per), Ehrencrona, H. (Hans), Wachenfeldt, A. (Anna) von, Barkardottir, R.B. (Rosa), Hamann, U. (Ute), Rashid, M.U. (Muhammad), Lasa, A. (Adriana), Caldes, T. (Trinidad), Andres, R. (Raquel), Schmitt, M. (Michael), Assmann, V. (Volker), Stevens, K. (Kristen), Offit, K. (Kenneth), Curado, J. (João), Tilgner, H. (Hagen), Guigó, R. (Roderic), Aiza, G. (Gemma), Brunet, J. (Joan), Castellsagué, J. (Joan), Martrat, G. (Griselda), Urruticoechea, A. (Ander), Blanco, I. (Ignacio), Tihomirova, L. (Laima), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Deissler, H. (Helmut), Varon-Mateeva, R. (Raymonda), Sutter, C. (Christian), Niederacher, D. (Dieter), Imyamitov, E. (Evgeny), Sinilnikova, O. (Olga), Stoppa-Lyonne, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Healey, S. (Sue), Barcellos-Hoff, M.H., Vidal, M. (Marc), Gruber, S.B. (Stephen), Lázaro, C. (Conxi), Capellá, G. (Gabriel), McGuffog, L. (Lesley), Nathanson, K.L. (Katherine), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Fleisch, M.C. (Markus), Moreno, V. (Víctor), Pujana, M.A., and Weber, B.L. (Barbara)
Abstract: Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased risk of developing tumors of basal-like type suggest that BRCA1 regulates stem/progenitor cell proliferation and differentiation. However, the function of BRCA1 in this process and its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer. Starting from complementary genetic analyses across families and populations, we identified common genetic variation at the low-penetrance susceptibility HMMR locus (encoding for RHAMM) that modifies breast cancer risk among BRCA1, but probably not BRCA2, mutation carriers: n = 7,584, weighted hazard ratio (wHR) = 1.09 (95% CI 1.02-1.16), ptrend= 0.017; and n = 3,965,wHR = 1.04 (95% CI 0.94-1.16), ptrend= 0.43; respectively. Subsequently, studies of MCF10A apicobasal polarization revealed a central role for BRCA1 and RHAMM, together with AURKA and TPX2, in essential reorganization of microtubule
Published: 2011
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19. Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats

Author: You, J.F., Buhard, O., Ligtenberg, M.J. (Marjolijn), Kets, C.M. (Marleen), Niessen, R.C. (Renée), Hofstra, R.M.W. (Robert), Wagner, A. (Anja), Dinjens, W.N.M. (Winand), Colas, C. (Chrystelle), Lascols, O., Collura, A., Flejou, J.F., Duval, A., Hamelin, R. (Richard), You, J.F., Buhard, O., Ligtenberg, M.J. (Marjolijn), Kets, C.M. (Marleen), Niessen, R.C. (Renée), Hofstra, R.M.W. (Robert), Wagner, A. (Anja), Dinjens, W.N.M. (Winand), Colas, C. (Chrystelle), Lascols, O., Collura, A., Flejou, J.F., Duval, A., and Hamelin, R. (Richard)
Abstract: Background: Microsatellite instability (MSI) is commonly screened using a panel of two mononucleotide and three dinucleotide repeats as recommended by a consensus meeting on MSI tumours held at the National Cancer Institute (Bethesda, MD, USA). According to these recommendations, tumours are classified as MSI-H when at least two of the five microsatellite markers show instability, MSI-L when only one marker shows instability and MSS when none of the markers show instability. Almost all MSI-H tumours are characterised by alterations in one of the four major proteins of the mismatch repair (MMR) system (MLH1, MSH2, MSH6 or PMS2) that renders them MMR deficient, whereas MSI-L and MSS tumours are generally MMR proficient. However, tumours from patients with a pathogenic germline mutation in MSH6 can sometimes present an MSI-L phenotype with the NCI panel. The MSH6 protein is not involved in the repair of mismatches of two nucleotides in length and consequently the three dinucleotide repeats of the NCI panel often show stability in MSH6-deficient tumours. Methods: A pentaplex panel comprising five mononucleotide repeats has been recommended as an alternative to the NCI panel to determine tumour MSI status. Several studies have confirmed the sensitivity, specificity and ease of use of the pentaplex panel; however, its sensitivity for the detection of MSH6-deficient tumours is so far unknown. Here, we used the pentaplex panel to evaluate MSI status in 29 tumours known to harbour an MSH6 defect. Results: MSI-H status was confirmed in 15 out of 15 (100%) cases where matching normal DNA was available and in 28 out of 29 (97%) cases where matching DNA was not available or was not analysed. Conclusion: These results show that the pentaplex assay efficiently discriminates the MSI status of tumours with an MSH6 defect.
Published: 2010
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20. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

Author: Gómez García, E.B. (Encarna), Oosterwijk, J.C. (Jan), Timmermans, M. (Maarten), Asperen, C.J. (Christi) van, Hogervorst, F.B.L. (Frans), Hoogerbrugge, N. (Nicoline), Oldenburg, R.A. (Rogier), Verhoef, S. (Senno), Dommering, C.J. (Charlotte), Ausems, M.G.E.M. (Margreet), Os, T.A.M. (Theo) van, Hout, A.H. (Annemarie) van der, Ligtenberg, M.J. (Marjolijn), Ouweland, A.M.W. (Ans) van den, Luijt, R.B. (Rob) van der, Wijnen, J.T. (Juul), Gille, J.J.P. (Jan), Lindsey, P.J. (Patrick), Devilee, P. (Peter), Blok, M.J. (Marinus), Vreeswijk, M.P. (Maaike), Gómez García, E.B. (Encarna), Oosterwijk, J.C. (Jan), Timmermans, M. (Maarten), Asperen, C.J. (Christi) van, Hogervorst, F.B.L. (Frans), Hoogerbrugge, N. (Nicoline), Oldenburg, R.A. (Rogier), Verhoef, S. (Senno), Dommering, C.J. (Charlotte), Ausems, M.G.E.M. (Margreet), Os, T.A.M. (Theo) van, Hout, A.H. (Annemarie) van der, Ligtenberg, M.J. (Marjolijn), Ouweland, A.M.W. (Ans) van den, Luijt, R.B. (Rob) van der, Wijnen, J.T. (Juul), Gille, J.J.P. (Jan), Lindsey, P.J. (Patrick), Devilee, P. (Peter), Blok, M.J. (Marinus), and Vreeswijk, M.P. (Maaike)
Abstract: Introduction: Unclassified variants (UVs) in the BRCA1/BRCA2 genes are a frequent problem in counseling breast cancer and/or ovarian cancer families. Information about cancer family history is usually available, but has rarely been used to evaluate UVs. The aim of the present study was to identify which is the best combination of clinical parameters that can predict whether a UV is deleterious, to be used for the classification of UVs.Methods: We developed logistic regression models with the best combination of clinical features that distinguished a positive control of BRCA pathogenic variants (115 families) from a negative control population of BRCA variants initially classified as UVs and later considered neutral (38 families).Results: The models included a combination of BRCAPRO scores, Myriad scores, number of ovarian cancers in the family, the age at diagnosis, and the number of persons with ovarian tumors and/or breast tumors. The areas under the receiver operating characteristic curves were respectively 0.935 and 0.836 for the BRCA1 and BRCA2 models. For each model, the minimum receiver operating characteristic distance (respectively 90% and 78% specificity for BRCA1 and BRCA2) was chosen as the cutoff value to predict which UVs are deleterious from a study population of 12 UVs, present in 59 Dutch families. The p.S1655F, p.R1699W, and p.R1699Q variants in BRCA1 and the p.Y2660D, p.R2784Q, and p.R3052W variants in BRCA2 are classified as deleterious according to our models. The predictions of the p.L246V variant in BRCA1 and of the p.Y42C, p.E462G, p.R2888C, and p.R3052Q variants in BRCA2 are in agreement with published information of them being neutral. The p.R2784W variant in BRCA2 remains uncertain.Conclusions: The present study shows that these developed models are useful to classify UVs in clinical genetic practice.
Published: 2009
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21. Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Antoniou, A.C. (Antonis), Spurdle, A.B. (Amanda), Sinilnikova, O. (Olga), Healey, S. (Sue), Pooley, K.A. (Karen), Schmutzler, R.K. (Rita), Versmold, B. (Beatrix), Engel, C. (Christoph), Meindl, A. (Alfons), Arnold, N. (Norbert), Hofmann, W. (Wera), Sutter, C. (Christian), Niederacher, D. (Dieter), Deissler, H. (Helmut), Caldes, T. (Trinidad), Kämpjärvi, K. (Kati), Nevanlinna, H. (Heli), Simard, J. (Jacques), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Neuhausen, S.L. (Susan), Rebbeck, R. (Timothy), Wagner, T. (Teresa), Lynch, H. (Henry), Isaacs, C. (Claudine), Weitzel, J.N. (Jeffrey), Ganz, P.A. (Patricia), Daly, M.J. (Mark), Tomlinson, G. (Gail), Olopade, O.I. (Olofunmilayo), Blum, J.L. (Joanne), Couch, F.J. (Fergus), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Radice, P. (Paolo), Szabo, C. (Csilla), Pereira, L.H.M., Greene, M.H. (Mark), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Barnett-Griness, O. (Ofra), Andrulis, I.L. (Irene), Ozcelik, H. (Hilmi), Gerdes, A-M. (Anne-Marie), Caligo, M.A. (Maria), Laitman, Y. (Yael), Kaufman, B. (Bella), Milgrom, R. (Roni), Friedman, E. (Eitan), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Osorio, A. (Ana), Llort, G. (Gemma), Milne, R.L. (Roger), Benítez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Manders, P. (Peggy), Ligtenberg, M.J. (Marjolijn), Ouweland, A.M.W. (Ans) van den, Peock, S. (Susan), Cook, M. (Margaret), Platte, R. (Radka), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Pichert, G. (Gabriella), Chu, C. (Chengbin), Eccles, D. (Diana), Davidson, R. (Rosemarie), Douglas, F. (Fiona), Godwin, A.K. (Andrew), Mazoyer, S. (Sylvie), Sobol, H. (Hagay), Bourdon, V. (Violaine), Eisinger, F. (François), Chompret, A. (Agnès), Barjhoux, L. (Laure), Capoulade, C. (Corinne), Bressac-de Paillerets, B. (Brigitte), Lenoir, G.M. (Gilbert), Gauthier-Villars, M. (Marion), Houdayer, C. (Claude), Stoppa-Lyonnet, D. (Dominique), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), Spurdle, A.B. (Amanda), Sinilnikova, O. (Olga), Healey, S. (Sue), Pooley, K.A. (Karen), Schmutzler, R.K. (Rita), Versmold, B. (Beatrix), Engel, C. (Christoph), Meindl, A. (Alfons), Arnold, N. (Norbert), Hofmann, W. (Wera), Sutter, C. (Christian), Niederacher, D. (Dieter), Deissler, H. (Helmut), Caldes, T. (Trinidad), Kämpjärvi, K. (Kati), Nevanlinna, H. (Heli), Simard, J. (Jacques), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Neuhausen, S.L. (Susan), Rebbeck, R. (Timothy), Wagner, T. (Teresa), Lynch, H. (Henry), Isaacs, C. (Claudine), Weitzel, J.N. (Jeffrey), Ganz, P.A. (Patricia), Daly, M.J. (Mark), Tomlinson, G. (Gail), Olopade, O.I. (Olofunmilayo), Blum, J.L. (Joanne), Couch, F.J. (Fergus), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Radice, P. (Paolo), Szabo, C. (Csilla), Pereira, L.H.M., Greene, M.H. (Mark), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Barnett-Griness, O. (Ofra), Andrulis, I.L. (Irene), Ozcelik, H. (Hilmi), Gerdes, A-M. (Anne-Marie), Caligo, M.A. (Maria), Laitman, Y. (Yael), Kaufman, B. (Bella), Milgrom, R. (Roni), Friedman, E. (Eitan), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Osorio, A. (Ana), Llort, G. (Gemma), Milne, R.L. (Roger), Benítez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Manders, P. (Peggy), Ligtenberg, M.J. (Marjolijn), Ouweland, A.M.W. (Ans) van den, Peock, S. (Susan), Cook, M. (Margaret), Platte, R. (Radka), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Pichert, G. (Gabriella), Chu, C. (Chengbin), Eccles, D. (Diana), Davidson, R. (Rosemarie), Douglas, F. (Fiona), Godwin, A.K. (Andrew), Mazoyer, S. (Sylvie), Sobol, H. (Hagay), Bourdon, V. (Violaine), Eisinger, F. (François), Chompret, A. (Agnès), Barjhoux, L. (Laure), Capoulade, C. (Corinne), Bressac-de Paillerets, B. (Brigitte), Lenoir, G.M. (Gilbert), Gauthier-Villars, M. (Marion), Houdayer, C. (Claude), Stoppa-Lyonnet, D. (Dominique), Chenevix-Trench, G. (Georgia), and Easton, D.F. (Douglas)
Abstract: Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs29
Published: 2008
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22. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

Author: Petrij-Bosch, A. (Anne), Peelen, T. (Tamara), Vliet, M. (Margreethe) van, Eijk, R. (Ronald) van, Olmer, R. (Renske), Drüsedau, M. (Marion), Hogervorst, F.B.L. (Frans), Hageman, G.S. (Gregory), Arts, W.F.M. (Willem Frans), Ligtenberg, M.J. (Marjolijn), Meijers-Heijboer, E.J. (Hanne), Klijn, J.G.M. (Jan), Vasen, H. (Hans), Cornelisse, C.J., Veer, L.J. (Laura) van 't, Bakker, E. (Egbert), Ommen, G.J. (Gert) van, Devilee, P. (Peter), Petrij-Bosch, A. (Anne), Peelen, T. (Tamara), Vliet, M. (Margreethe) van, Eijk, R. (Ronald) van, Olmer, R. (Renske), Drüsedau, M. (Marion), Hogervorst, F.B.L. (Frans), Hageman, G.S. (Gregory), Arts, W.F.M. (Willem Frans), Ligtenberg, M.J. (Marjolijn), Meijers-Heijboer, E.J. (Hanne), Klijn, J.G.M. (Jan), Vasen, H. (Hans), Cornelisse, C.J., Veer, L.J. (Laura) van 't, Bakker, E. (Egbert), Ommen, G.J. (Gert) van, and Devilee, P. (Peter)
Abstract: To date, more than 300 distinct small deletions, insertions and point mutations, mostly leading to premature termination of translation, have been reported in the breast/ovarian-cancer susceptibility gene BRCA1. The elevated frequencies of some mutations in certain ethnic subpopulations are caused by founder effects, rather than by mutation hotspots. Here we report that the currently available mutation spectrum of BRCA1 has been biased by PCR-based mutation-screening methods, such as SSCP, the protein truncation test (PTT) and direct sequencing, using genomic DNA as template. Three large genomic deletions that are not detected by these approaches comprise 36% of all BRCA1 mutations found in Dutch breast-cancer families to date. A 510-bp Alu- mediated deletion comprising exon 22 was found in 8 of 170 breast-cancer families recruited for research purposes and in 6 of 49 probands referred to the Amsterdam Family Cancer Clinic for genetic counselling. In addition, a 3,835-bp Alu-mediated deletion encompassing exon 13 was detected in 6 of the 170 research families, while an deletion of approximately 14 kb was detected in a single family. Haplotype analyses indicated that each recurrent deletion had a single common ancestor.
Published: 1997
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22 results on '"Ligtenberg, M.J. (Marjolijn)"'

1. Impact of DNA damage repair defects and aggressive variant features on response to carboplatin-based chemotherapy in metastatic castration-resistant prostate cancer

2. Multicenter Comparison of Molecular Tumor Boards in The Netherlands: Definition, Composition, Methods, and Targeted Therapy Recommendations

3. Reply to Kratz et al.

4. Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

5. Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

6. Implementation of Novel Molecular Biomarkers for Non-small Cell Lung Cancer in the Netherlands: How to Deal With Increasing Complexity

7. Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics

8. In-depth assessment of metastatic prostate cancer with high tumour mutational burden

9. Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

10. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

11. Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool

12. Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

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

14. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

15. Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

16. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

17. Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

18. Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

19. Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats

20. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

21. Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

22. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

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