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29 results on '"Mensenkamp A."'

1. Data from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author

Vos, Janet R., primary, Teixeira, Natalia, primary, van der Kolk, Dorina M., primary, Mourits, Marian J.E., primary, Rookus, Matti A., primary, van Leeuwen, Flora E., primary, Collée, Margriet, primary, van Asperen, Christi J., primary, Mensenkamp, Arjen R., primary, Ausems, Margreet G.E.M., primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, Gómez-Garcia, Encarna B., primary, Vasen, Hans F., primary, Brohet, Richard M., primary, van der Hout, Annemarie H., primary, Jansen, Liesbeth, primary, Oosterwijk, Jan C., primary, and de Bock, Geertruida H., primary

Published
2023
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2. Supplementary figures 1 to 3 from Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

Author

Rao, Jyotsna U., primary, Engelke, Udo F.H., primary, Rodenburg, Richard J.T., primary, Wevers, Ron A., primary, Pacak, Karel, primary, Eisenhofer, Graeme, primary, Qin, Nan, primary, Kusters, Benno, primary, Goudswaard, Angelina G., primary, Lenders, Jacques W.M., primary, Hermus, Ad R.M.M., primary, Mensenkamp, Arjen R., primary, Kunst, Henricus P.M., primary, Sweep, Fred C.G.J., primary, and Timmers, Henri J.L.M., primary

Published
2023
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3. Supplementary Appendix 2 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Diets, Illja J., primary, Waanders, Esmé, primary, Ligtenberg, Marjolijn J., primary, van Bladel, Diede A.G., primary, Kamping, Eveline J., primary, Hoogerbrugge, Peter M., primary, Hopman, Saskia, primary, Olderode-Berends, Maran J., primary, Gerkes, Erica H., primary, Koolen, David A., primary, Marcelis, Carlo, primary, Santen, Gijs W., primary, van Belzen, Martine J., primary, Mordaunt, Dylan, primary, McGregor, Lesley, primary, Thompson, Elizabeth, primary, Kattamis, Antonis, primary, Pastorczak, Agata, primary, Mlynarski, Wojciech, primary, Ilencikova, Denisa, primary, van Silfhout, Anneke Vulto-, primary, Gardeitchik, Thatjana, primary, de Bont, Eveline S., primary, Loeffen, Jan, primary, Wagner, Anja, primary, Mensenkamp, Arjen R., primary, Kuiper, Roland P., primary, Hoogerbrugge, Nicoline, primary, and Jongmans, Marjolijn C., primary

Published
2023
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4. Supplementary Tables 1 through 5 from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author

Vos, Janet R., primary, Teixeira, Natalia, primary, van der Kolk, Dorina M., primary, Mourits, Marian J.E., primary, Rookus, Matti A., primary, van Leeuwen, Flora E., primary, Collée, Margriet, primary, van Asperen, Christi J., primary, Mensenkamp, Arjen R., primary, Ausems, Margreet G.E.M., primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, Gómez-Garcia, Encarna B., primary, Vasen, Hans F., primary, Brohet, Richard M., primary, van der Hout, Annemarie H., primary, Jansen, Liesbeth, primary, Oosterwijk, Jan C., primary, and de Bock, Geertruida H., primary

Published
2023
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5. Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Diets, Illja J., primary, Waanders, Esmé, primary, Ligtenberg, Marjolijn J., primary, van Bladel, Diede A.G., primary, Kamping, Eveline J., primary, Hoogerbrugge, Peter M., primary, Hopman, Saskia, primary, Olderode-Berends, Maran J., primary, Gerkes, Erica H., primary, Koolen, David A., primary, Marcelis, Carlo, primary, Santen, Gijs W., primary, van Belzen, Martine J., primary, Mordaunt, Dylan, primary, McGregor, Lesley, primary, Thompson, Elizabeth, primary, Kattamis, Antonis, primary, Pastorczak, Agata, primary, Mlynarski, Wojciech, primary, Ilencikova, Denisa, primary, van Silfhout, Anneke Vulto-, primary, Gardeitchik, Thatjana, primary, de Bont, Eveline S., primary, Loeffen, Jan, primary, Wagner, Anja, primary, Mensenkamp, Arjen R., primary, Kuiper, Roland P., primary, Hoogerbrugge, Nicoline, primary, and Jongmans, Marjolijn C., primary

Published
2023
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6. Supplementary Figures 1 - 3 from MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Author

Burnichon, Nelly, primary, Cascón, Alberto, primary, Schiavi, Francesca, primary, Morales, Nicole Paes, primary, Comino-Méndez, Iñaki, primary, Abermil, Nasséra, primary, Inglada-Pérez, Lucía, primary, de Cubas, Aguirre A., primary, Amar, Laurence, primary, Barontini, Marta, primary, de Quirós, Sandra Bernaldo, primary, Bertherat, Jérôme, primary, Bignon, Yves-Jean, primary, Blok, Marinus J., primary, Bobisse, Sara, primary, Borrego, Salud, primary, Castellano, Maurizio, primary, Chanson, Philippe, primary, Chiara, María-Dolores, primary, Corssmit, Eleonora P.M., primary, Giacchè, Mara, primary, de Krijger, Ronald R., primary, Ercolino, Tonino, primary, Girerd, Xavier, primary, Gómez-García, Encarna B., primary, Gómez-Graña, Álvaro, primary, Guilhem, Isabelle, primary, Hes, Frederik J., primary, Honrado, Emiliano, primary, Korpershoek, Esther, primary, Lenders, Jacques W.M., primary, Letón, Rocío, primary, Mensenkamp, Arjen R., primary, Merlo, Anna, primary, Mori, Luigi, primary, Murat, Arnaud, primary, Pierre, Peggy, primary, Plouin, Pierre-François, primary, Prodanov, Tamara, primary, Quesada-Charneco, Miguel, primary, Qin, Nan, primary, Rapizzi, Elena, primary, Raymond, Victoria, primary, Reisch, Nicole, primary, Roncador, Giovanna, primary, Ruiz-Ferrer, Macarena, primary, Schillo, Frank, primary, Stegmann, Alexander P.A., primary, Suarez, Carlos, primary, Taschin, Elisa, primary, Timmers, Henri J.L.M., primary, Tops, Carli M.J., primary, Urioste, Miguel, primary, Beuschlein, Felix, primary, Pacak, Karel, primary, Mannelli, Massimo, primary, Dahia, Patricia L. M., primary, Opocher, Giuseppe, primary, Eisenhofer, Graeme, primary, Gimenez-Roqueplo, Anne-Paule, primary, and Robledo, Mercedes, primary

Published
2023
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7. Supplementary Table S1 from Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Author

Vos, Janet R., primary, Oosterwijk, Jan C., primary, Aalfs, Cora M., primary, Rookus, Matti A., primary, Adank, Muriel A., primary, van der Hout, Annemarie H., primary, van Asperen, Christi J., primary, Gómez Garcia, Encarna B., primary, Mensenkamp, Arjen R., primary, Jager, Agnes, primary, Ausems, Margreet G.E.M., primary, Mourits, Marian J., primary, and de Bock, Geertruida H., primary

Published
2023
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8. Supplementary legend from Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

Author

Rao, Jyotsna U., primary, Engelke, Udo F.H., primary, Rodenburg, Richard J.T., primary, Wevers, Ron A., primary, Pacak, Karel, primary, Eisenhofer, Graeme, primary, Qin, Nan, primary, Kusters, Benno, primary, Goudswaard, Angelina G., primary, Lenders, Jacques W.M., primary, Hermus, Ad R.M.M., primary, Mensenkamp, Arjen R., primary, Kunst, Henricus P.M., primary, Sweep, Fred C.G.J., primary, and Timmers, Henri J.L.M., primary

Published
2023
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9. Abstract P6-02-15: Don’t get lost in translation: Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) recommendations for reporting germline cancer susceptibility gene variants in 19 languages – breast cancer as a model

Author

De Nicolo, Arcangela, primary, Eccles, Diana M., additional, Ariansen, Sarah Louise, additional, Biancolella, Michela, additional, de la Hoya, Miguel, additional, Diez, Orland, additional, Ehrencrona, Hans, additional, Fostira, Florentia, additional, Hassan, Tiara, additional, Imoto, Issei, additional, Kowalik, Artur, additional, Lesueur, Fabienne, additional, Mensenkamp, Arjen R., additional, Nevanlinna, Heli, additional, Ngeow, Joanne, additional, Palmero, Edenir I., additional, Pedersen, Inge Søkilde, additional, Que, Frances, additional, Soukupová, Jana, additional, Tan, Yen, additional, Vega, Ana, additional, Spurdle, Amanda B., additional, and Radice, Paolo, additional

Published
2023
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10. Data from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Marjolijn C. Jongmans, Nicoline Hoogerbrugge, Roland P. Kuiper, Arjen R. Mensenkamp, Anja Wagner, Jan Loeffen, Eveline S. de Bont, Thatjana Gardeitchik, Anneke Vulto- van Silfhout, Denisa Ilencikova, Wojciech Mlynarski, Agata Pastorczak, Antonis Kattamis, Elizabeth Thompson, Lesley McGregor, Dylan Mordaunt, Martine J. van Belzen, Gijs W. Santen, Carlo Marcelis, David A. Koolen, Erica H. Gerkes, Maran J. Olderode-Berends, Saskia Hopman, Peter M. Hoogerbrugge, Eveline J. Kamping, Diede A.G. van Bladel, Marjolijn J. Ligtenberg, Esmé Waanders, and Illja J. Diets

Abstract

Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of children with cancer.Experimental Design: To identify mutations in known and novel cancer-predisposing genes, we performed trio-based whole-exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer, or (4) an adult type of cancer. We first analyzed the sequence data for germline mutations in 146 known cancer-predisposing genes. If no causative mutation was found, the analysis was extended to the whole exome.Results: Four patients carried causative mutations in a known cancer-predisposing gene: TP53 and DICER1 (n = 3). In another 4 patients, exome sequencing revealed mutations causing syndromes that might have contributed to the malignancy (EP300-based Rubinstein–Taybi syndrome, ARID1A-based Coffin–Siris syndrome, ACTB-based Baraitser–Winter syndrome, and EZH2-based Weaver syndrome). In addition, we identified two genes, KDM3B and TYK2, which are possibly involved in genetic cancer predisposition.Conclusions: In our selected cohort of patients, pathogenic germline mutations causative or likely causative of the cancer phenotype were found in 8 patients, and two possible novel cancer-predisposing genes were identified. Therewith, our study shows the added value of sequencing beyond a cancer gene panel in selected patients, to recognize childhood cancer predisposition. Clin Cancer Res; 24(7); 1594–603. ©2018 AACR.

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2023
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11. Supplementary figures 1 to 3 from Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

Author

Henri J.L.M. Timmers, Fred C.G.J. Sweep, Henricus P.M. Kunst, Arjen R. Mensenkamp, Ad R.M.M. Hermus, Jacques W.M. Lenders, Angelina G. Goudswaard, Benno Kusters, Nan Qin, Graeme Eisenhofer, Karel Pacak, Ron A. Wevers, Richard J.T. Rodenburg, Udo F.H. Engelke, and Jyotsna U. Rao

Abstract

Supplementary Figure 1 Examples of 1H NMR spectra for different genotypes A. Example of NMR spectrum of a sporadic tumor depicting the peak positions of lactic acid, acetic acid and catecholamines. B. Example of NMR spectrum of a SDHB tumor depicting peak position of succinic acid. C. Example of NMR spectrum of a RET tumor depicting ATP/ADP/AMP and adrenaline specific peaks. Supplementary Figure 2 Comparison of epinephrine and norepinephrine content in tumor tissues as determined by HPLC and 1H-NMR spectroscopy. Passing - Bablok regression plot to compare measurement of epinephrine and norepinephrine content in PGL tumor tissues by HPLC and 1HNMR spectroscopy expressed as μg per mg tissue in Log10 scale. Supplementary Figure 3: Activities of respiratory chain complex II and tumor tissue succinate content in SDH related tumors. Black bars represent complex II activity expressed in mU/mg protein and grey bars represent tumor tissue succinate content in mmol/mg tissue for each individual tumor. Represented on X axis is the hereditary mutation in the patient from whom the tumor was resected.

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2023
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12. Supplementary legend from Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

Author

Henri J.L.M. Timmers, Fred C.G.J. Sweep, Henricus P.M. Kunst, Arjen R. Mensenkamp, Ad R.M.M. Hermus, Jacques W.M. Lenders, Angelina G. Goudswaard, Benno Kusters, Nan Qin, Graeme Eisenhofer, Karel Pacak, Ron A. Wevers, Richard J.T. Rodenburg, Udo F.H. Engelke, and Jyotsna U. Rao

Abstract

Supplementary legend

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2023
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13. Data from MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Author

Mercedes Robledo, Anne-Paule Gimenez-Roqueplo, Graeme Eisenhofer, Giuseppe Opocher, Patricia L. M. Dahia, Massimo Mannelli, Karel Pacak, Felix Beuschlein, Miguel Urioste, Carli M.J. Tops, Henri J.L.M. Timmers, Elisa Taschin, Carlos Suarez, Alexander P.A. Stegmann, Frank Schillo, Macarena Ruiz-Ferrer, Giovanna Roncador, Nicole Reisch, Victoria Raymond, Elena Rapizzi, Nan Qin, Miguel Quesada-Charneco, Tamara Prodanov, Pierre-François Plouin, Peggy Pierre, Arnaud Murat, Luigi Mori, Anna Merlo, Arjen R. Mensenkamp, Rocío Letón, Jacques W.M. Lenders, Esther Korpershoek, Emiliano Honrado, Frederik J. Hes, Isabelle Guilhem, Álvaro Gómez-Graña, Encarna B. Gómez-García, Xavier Girerd, Tonino Ercolino, Ronald R. de Krijger, Mara Giacchè, Eleonora P.M. Corssmit, María-Dolores Chiara, Philippe Chanson, Maurizio Castellano, Salud Borrego, Sara Bobisse, Marinus J. Blok, Yves-Jean Bignon, Jérôme Bertherat, Sandra Bernaldo de Quirós, Marta Barontini, Laurence Amar, Aguirre A. de Cubas, Lucía Inglada-Pérez, Nasséra Abermil, Iñaki Comino-Méndez, Nicole Paes Morales, Francesca Schiavi, Alberto Cascón, and Nelly Burnichon

Abstract

Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline and somatic MAX mutations in PCC/PGL.Design: We sequenced MAX in 1,694 patients with PCC or PGL (without mutations in other major susceptibility genes) from 17 independent referral centers. We screened for large deletions/duplications in 1,535 patients using a multiplex PCR-based method. Somatic mutations were searched for in tumors from an additional 245 patients. The frequency and type of MAX mutation was assessed overall and by clinical characteristics.Results: Sixteen MAX pathogenic mutations were identified in 23 index patients. All had adrenal tumors, including 13 bilateral or multiple PCCs within the same gland (P < 0.001), 15.8% developed additional tumors at thoracoabdominal sites, and 37% had familial antecedents. Age at diagnosis was lower (P = 0.001) in MAX mutation carriers compared with nonmutated cases. Two patients (10.5%) developed metastatic disease. A mutation affecting MAX was found in five tumors, four of them confirmed as somatic (1.65%). MAX tumors were characterized by substantial increases in normetanephrine, associated with normal or minor increases in metanephrine.Conclusions: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients. Clin Cancer Res; 18(10); 2828–37. ©2012 AACR.

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2023
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14. Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Marjolijn C. Jongmans, Nicoline Hoogerbrugge, Roland P. Kuiper, Arjen R. Mensenkamp, Anja Wagner, Jan Loeffen, Eveline S. de Bont, Thatjana Gardeitchik, Anneke Vulto- van Silfhout, Denisa Ilencikova, Wojciech Mlynarski, Agata Pastorczak, Antonis Kattamis, Elizabeth Thompson, Lesley McGregor, Dylan Mordaunt, Martine J. van Belzen, Gijs W. Santen, Carlo Marcelis, David A. Koolen, Erica H. Gerkes, Maran J. Olderode-Berends, Saskia Hopman, Peter M. Hoogerbrugge, Eveline J. Kamping, Diede A.G. van Bladel, Marjolijn J. Ligtenberg, Esmé Waanders, and Illja J. Diets

Abstract

Supplementary Table S1 - Cancer gene panel Supplementary Table S2 - Patients with multiple malignancies Supplementary Table S3 - Tumor types of index patients Supplementary Table S4 - Candidate genes Supplementary Table S5 - Overview of clinical features and mutations found in category 1 (ID and/or congenital anomalies) Supplementary Table S6 - Overview of clinical features and mutations found in category 2 (cancer twice) Supplementary Table S7 - Overview of clinical features and mutations found in category 3 (family history) Supplementary Table S8 - Overview of clinical features and mutations found in category 4 (adult type of cancer) Supplementary Table S9 - Overview of clinical features and mutations found in category 5 (multiple reasons for inclusion) Supplementary Figure S1 - Detection of mosaic mutation in ARID1A Supplementary Figure S2 - Family tree of case #04 Supplementary Figure S3 - Family tree of case #05 Supplementary Figure S4 - Family tree of case #07 Supplementary Figure S5 - Family tree of case #10 Supplementary Figure S6 - Family tree of case #12 Supplementary Figure S7 - Family tree of case #17 Supplementary Figure S8 - Family tree of case #21 Supplementary Figure S9 - Family tree of case #22 Supplementary Figure S10 - Family tree of case #24 Supplementary Figure S11 - Family tree of case #27 Supplementary Figure S12 - Family tree of case #28 Supplementary Figure S13 - Family tree of case #29 Supplementary Figure S14 - Family tree of case #34 Supplementary Figure S15 - Family tree of case #36 Supplementary Figure S16 - Family tree of case #39

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2023
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15. Supplementary Appendix 2 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Marjolijn C. Jongmans, Nicoline Hoogerbrugge, Roland P. Kuiper, Arjen R. Mensenkamp, Anja Wagner, Jan Loeffen, Eveline S. de Bont, Thatjana Gardeitchik, Anneke Vulto- van Silfhout, Denisa Ilencikova, Wojciech Mlynarski, Agata Pastorczak, Antonis Kattamis, Elizabeth Thompson, Lesley McGregor, Dylan Mordaunt, Martine J. van Belzen, Gijs W. Santen, Carlo Marcelis, David A. Koolen, Erica H. Gerkes, Maran J. Olderode-Berends, Saskia Hopman, Peter M. Hoogerbrugge, Eveline J. Kamping, Diede A.G. van Bladel, Marjolijn J. Ligtenberg, Esmé Waanders, and Illja J. Diets

Abstract

This file contains all mutations identified in all patients.

Published
2023
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16. Data from Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

Author

Henri J.L.M. Timmers, Fred C.G.J. Sweep, Henricus P.M. Kunst, Arjen R. Mensenkamp, Ad R.M.M. Hermus, Jacques W.M. Lenders, Angelina G. Goudswaard, Benno Kusters, Nan Qin, Graeme Eisenhofer, Karel Pacak, Ron A. Wevers, Richard J.T. Rodenburg, Udo F.H. Engelke, and Jyotsna U. Rao

Abstract

Purpose: Pheochromocytomas and paragangliomas (PGL) are neuroendocrine tumors of sympathetic and parasympathetic paraganglia. This study investigated the relationships between genotype-specific differences in mitochondrial function and catecholamine content in PGL tumors.Experimental Design: Respiratory chain enzyme assays and 1H-nuclear magnetic resonance (NMR) spectroscopy at 500 MHz were conducted on homogenates of 35 sporadic PGLs and 59 PGLs from patients with hereditary mutations in succinate dehydrogenase subunits B and D (SDHB, SDHD), succinate dehydrogenase assembly factor 2, von Hippel-Lindau (VHL), rearranged during transfection (RET), neurofibromatosis type 1 (NF1), and myc-associated factor X.Results: In SDHx-related PGLs, a significant decrease in complex II activity (P < 0.0001) and a significant increase in complex I, III, and IV enzyme activities were observed when compared to sporadic, RET, and NF1 tumors. Also, a significant increase in citrate synthase (P < 0.0001) enzyme activity was observed in SDHx-related PGLs when compared to sporadic-, VHL-, RET-, and NF1-related tumors. An increase in succinate accumulation (P < 0.001) and decrease in ATP/ADP/AMP accumulation (P < 0.001) was observed when compared to sporadic PGLs and PGLs of other genotypes. Positive correlations (P < 0.01) were observed between respiratory chain complex II activity and total catecholamine content and ATP/ADP/AMP and total catecholamine contents in tumor tissues.Conclusions: This study for the first time establishes a relationship between determinants of energy metabolism, like activity of respiratory chain enzyme complex II, ATP/ADP/AMP content, and catecholamine content in PGL tumors. Also, this study for the first time successfully uses NMR spectroscopy to detect catecholamines in PGL tumors and provides ex vivo evidence for the accumulation of succinate in PGL tumors with an SDHx mutation. Clin Cancer Res; 19(14); 3787–95. ©2013 AACR.

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2023
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17. Supplementary Tables 1 through 5 from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author

Geertruida H. de Bock, Jan C. Oosterwijk, Liesbeth Jansen, Annemarie H. van der Hout, Richard M. Brohet, Hans F. Vasen, Encarna B. Gómez-Garcia, Hanne E.J. Meijers-Heijboer, Theo A.M. van Os, Margreet G.E.M. Ausems, Arjen R. Mensenkamp, Christi J. van Asperen, Margriet Collée, Flora E. van Leeuwen, Matti A. Rookus, Marian J.E. Mourits, Dorina M. van der Kolk, Natalia Teixeira, and Janet R. Vos

Abstract

Supplementary Table 1. Clinical characteristics of BRCA1/2 carriers including index cases in the Northern Netherlands (study population) and in the rest of the Netherlands (reference population). Supplementary Table 2. Overview of number of carriers (excluding index cases) at risk at each age-decade and number of breast cancer event for each age-decade. Supplementary Table 3. Cumulative incidence of breast cancer in BRCA1/2 carriers, excluding index cases, in the study population (Northern Netherlands) and reference population (rest of the Netherlands). Estimation of risks weighted to an equal contribution from the different birth cohorts in each population. Supplementary Table 4. Relative risks (hazard ratios (95% confidence interval)) of breast cancer for mutation spectrum, excluding index cases. Supplementary Table 5. Regional differences in the breast cancer risk of BRCA1/2 carriers including index cases (adjusted for birth year) in the Netherlands: the study population (Northern Netherlands) compared to the reference population (the rest of the Netherlands.)

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2023
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18. Data from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Author

Geertruida H. de Bock, Jan C. Oosterwijk, Liesbeth Jansen, Annemarie H. van der Hout, Richard M. Brohet, Hans F. Vasen, Encarna B. Gómez-Garcia, Hanne E.J. Meijers-Heijboer, Theo A.M. van Os, Margreet G.E.M. Ausems, Arjen R. Mensenkamp, Christi J. van Asperen, Margriet Collée, Flora E. van Leeuwen, Matti A. Rookus, Marian J.E. Mourits, Dorina M. van der Kolk, Natalia Teixeira, and Janet R. Vos

Abstract

Background: We aimed to quantify previously observed relatively high cancer risks in BRCA2 mutation carriers (BRCA2 carriers) older than 60 in the Northern Netherlands, and to analyze whether these could be explained by mutation spectrum or population background risk.Methods: This consecutive cohort study included all known pathogenic BRCA1/2 carriers in the Northern Netherlands (N = 1,050). Carrier and general reference populations were: BRCA1/2 carriers in the rest of the Netherlands (N = 2,013) and the general population in both regions. Regional differences were assessed with HRs and ORs. HRs were adjusted for birth year and mutation spectrum.Results: All BRCA1 carriers and BRCA2 carriers younger than 60 had a significantly lower breast cancer risk in the Northern Netherlands; HRs were 0.66 and 0.64, respectively. Above age 60, the breast cancer risk in BRCA2 carriers in the Northern Netherlands was higher than in the rest of the Netherlands [HR, 3.99; 95% confidence interval (CI), 1.11–14.35]. Adjustment for mutational spectrum changed the HRs for BRCA1, BRCA2 BRCA2 ≥60 years by −3%, +32%, and +11% to 0.75, 0.50, and 2.61, respectively. There was no difference in background breast cancer incidence between the two regions (OR, 1.03; 95% CI, 0.97–1.09).Conclusions: Differences in mutation spectrum only partly explain the regional differences in breast cancer risk in BRCA2 carriers, and for an even smaller part in BRCA1 carriers.Impact: The increased risk in BRCA2 carriers older than 60 may warrant extension of intensive breast screening beyond age 60. Cancer Epidemiol Biomarkers Prev; 23(11); 2482–91. ©2014 AACR.

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2023
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19. Supplementary Table S1 from Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Author

Geertruida H. de Bock, Marian J. Mourits, Margreet G.E.M. Ausems, Agnes Jager, Arjen R. Mensenkamp, Encarna B. Gómez Garcia, Christi J. van Asperen, Annemarie H. van der Hout, Muriel A. Adank, Matti A. Rookus, Cora M. Aalfs, Jan C. Oosterwijk, and Janet R. Vos

Abstract

Personal and family history at initial referral of the family and personal DNA test.

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2023
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20. Abstract P6-02-15: Don’t get lost in translation: Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) recommendations for reporting germline cancer susceptibility gene variants in 19 languages – breast cancer as a model

Author

Arcangela De Nicolo, Diana M. Eccles, Sarah Louise Ariansen, Michela Biancolella, Miguel de la Hoya, Orland Diez, Hans Ehrencrona, Florentia Fostira, Tiara Hassan, Issei Imoto, Artur Kowalik, Fabienne Lesueur, Arjen R. Mensenkamp, Heli Nevanlinna, Joanne Ngeow, Edenir I. Palmero, Inge Søkilde Pedersen, Frances Que, Jana Soukupová, Yen Tan, Ana Vega, Amanda B. Spurdle, and Paolo Radice

Subjects
Cancer Research, Oncology
Abstract

Genetic testing for cancer susceptibility is a cornerstone of precision cancer prevention and care. Major communication hurdles remain for the differently specialized professionals involved in the identification, counselling, and clinical management of at-risk individuals. This may be ascribed to gaps in the genetic/genomic literacy of health care providers and to an ambiguous lexicon used for variant description. The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) international consortium endorses controlled terminology and a framework for interpretation and reporting of germline variants in cancer susceptibility genes (PMID: 30962250). However, for most ENIGMA affiliates a language other than English is used for written and verbal communication of genetic test results, potentially confounding local application of the published framework. The ENIGMA Clinical Working Group thus launched a Vocabulary Translation Project (VTP) to translate the ENIGMA recommendations into the various languages spoken by the membership. The VTP involved 65 ENIGMA members from 22 countries organized into 19 language-specific teams, covering Catalan, Chinese, Czech, Danish, Dutch, Finnish, French, Galician, German, Greek, Italian, Japanese, Malay, Norwegian, Polish, Portuguese, Spanish (Castilian), Swedish, and Tagalog. Excerpts from the original publication were selected for translation based on a majority consensus and included a glossary of terms and recommendations for interpreting and reporting germline sequence variants in (breast) cancer susceptibility genes. Using a two-step process, each team conducted the relevant translation followed by independent back-translation to English. The VTP proved useful to reappraise the reference text. It disclosed transnational issues, which prompted revision of the original source to emphasize that risk estimates and actionability were based on breast cancer as an exemplar. It also highlighted country-specific differences with regards to breast cancer risk assessment (e.g. different absolute/relative breast cancer risk cut points) and management. As a secondary outcome, via electronic survey of the participating teams we documented the perceived high value of the translation effort and its expected positive impact on more consistent clinical management of carrier individuals. The identified target audience encompasses medical geneticists, physicians of other specialties participating in multidisciplinary teams, genetic counselors, primary care physicians, as well as non-health care professionals, e.g. journalists and science communicators. The outreach program includes dissemination of the translations via local, regional, and especially national networks and their use for education and training purposes. Because French, Portuguese, and Spanish are widely used as official, co-official, or secondary languages, the reach of the VTP potentially extends to a greater number of countries and territories, mostly in Central and South America, Caribbean, and Africa. By moving a step forward towards terminological coherence across disciplines and borders, we will facilitate more precise delivery and clinical application of genetic test results for breast cancer predisposition. Our translated recommendations will improve interdisciplinary cross-talk and carriers’ awareness of the risks and implications associated with their status, contributing to more informed decision-making. We used breast cancer as a blueprint. Application of the model to other cancer types will require calibration on the cancer-specific absolute and relative risks. Citation Format: Arcangela De Nicolo, Diana M. Eccles, Sarah Louise Ariansen, Michela Biancolella, Miguel de la Hoya, Orland Diez, Hans Ehrencrona, Florentia Fostira, Tiara Hassan, Issei Imoto, Artur Kowalik, Fabienne Lesueur, Arjen R. Mensenkamp, Heli Nevanlinna, Joanne Ngeow, Edenir I. Palmero, Inge Søkilde Pedersen, Frances Que, Jana Soukupová, Yen Tan, Ana Vega, Amanda B. Spurdle, Paolo Radice. Don’t get lost in translation: Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) recommendations for reporting germline cancer susceptibility gene variants in 19 languages – breast cancer as a model [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P6-02-15.

Published
2023
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21. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author

Patel, Vivek L., primary, Busch, Evan L., additional, Friebel, Tara M., additional, Cronin, Angel, additional, Leslie, Goska, additional, McGuffog, Lesley, additional, Adlard, Julian, additional, Agata, Simona, additional, Agnarsson, Bjarni A., additional, Ahmed, Munaza, additional, Aittomäki, Kristiina, additional, Alducci, Elisa, additional, Andrulis, Irene L., additional, Arason, Adalgeir, additional, Arnold, Norbert, additional, Artioli, Grazia, additional, Arver, Brita, additional, Auber, Bernd, additional, Azzollini, Jacopo, additional, Balmaña, Judith, additional, Barkardottir, Rosa B., additional, Barnes, Daniel R., additional, Barroso, Alicia, additional, Barrowdale, Daniel, additional, Belotti, Muriel, additional, Benitez, Javier, additional, Bertelsen, Birgitte, additional, Blok, Marinus J., additional, Bodrogi, Istvan, additional, Bonadona, Valérie, additional, Bonanni, Bernardo, additional, Bondavalli, Davide, additional, Boonen, Susanne E., additional, Borde, Julika, additional, Borg, Ake, additional, Bradbury, Angela R., additional, Brady, Angela, additional, Brewer, Carole, additional, Brunet, Joan, additional, Buecher, Bruno, additional, Buys, Saundra S., additional, Cabezas-Camarero, Santiago, additional, Caldés, Trinidad, additional, Caliebe, Almuth, additional, Caligo, Maria A., additional, Calvello, Mariarosaria, additional, Campbell, Ian G., additional, Carnevali, Ileana, additional, Carrasco, Estela, additional, Chan, Tsun L., additional, Chu, Annie T.W., additional, Chung, Wendy K., additional, Claes, Kathleen B.M., additional, Collaborators, GEMO Study, additional, Collaborators, EMBRACE, additional, Cook, Jackie, additional, Cortesi, Laura, additional, Couch, Fergus J., additional, Daly, Mary B., additional, Damante, Giuseppe, additional, Darder, Esther, additional, Davidson, Rosemarie, additional, de la Hoya, Miguel, additional, Puppa, Lara Della, additional, Dennis, Joe, additional, Díez, Orland, additional, Ding, Yuan Chun, additional, Ditsch, Nina, additional, Domchek, Susan M., additional, Donaldson, Alan, additional, Dworniczak, Bernd, additional, Easton, Douglas F., additional, Eccles, Diana M., additional, Eeles, Rosalind A., additional, Ehrencrona, Hans, additional, Ejlertsen, Bent, additional, Engel, Christoph, additional, Evans, D. Gareth, additional, Faivre, Laurence, additional, Faust, Ulrike, additional, Feliubadaló, Lídia, additional, Foretova, Lenka, additional, Fostira, Florentia, additional, Fountzilas, George, additional, Frost, Debra, additional, García-Barberán, Vanesa, additional, Garre, Pilar, additional, Gauthier-Villars, Marion, additional, Géczi, Lajos, additional, Gehrig, Andrea, additional, Gerdes, Anne-Marie, additional, Gesta, Paul, additional, Giannini, Giuseppe, additional, Glendon, Gord, additional, Godwin, Andrew K., additional, Goldgar, David E., additional, Greene, Mark H., additional, Gutierrez-Barrera, Angelica M., additional, Hahnen, Eric, additional, Hamann, Ute, additional, Hauke, Jan, additional, Herold, Natalie, additional, Hogervorst, Frans B.L., additional, Honisch, Ellen, additional, Hopper, John L., additional, Hulick, Peter J., additional, Investigators, KConFab, additional, Investigators, HEBON, additional, Izatt, Louise, additional, Jager, Agnes, additional, James, Paul, additional, Janavicius, Ramunas, additional, Jensen, Uffe Birk, additional, Jensen, Thomas Dyrso, additional, Johannsson, Oskar Th., additional, John, Esther M., additional, Joseph, Vijai, additional, Kang, Eunyoung, additional, Kast, Karin, additional, Kiiski, Johanna I., additional, Kim, Sung-Won, additional, Kim, Zisun, additional, Ko, Kwang-Pil, additional, Konstantopoulou, Irene, additional, Kramer, Gero, additional, Krogh, Lotte, additional, Kruse, Torben A., additional, Kwong, Ava, additional, Larsen, Mirjam, additional, Lasset, Christine, additional, Lautrup, Charlotte, additional, Lazaro, Conxi, additional, Lee, Jihyoun, additional, Lee, Jong Won, additional, Lee, Min Hyuk, additional, Lemke, Johannes, additional, Lesueur, Fabienne, additional, Liljegren, Annelie, additional, Lindblom, Annika, additional, Llovet, Patricia, additional, Lopez-Fernández, Adria, additional, Lopez-Perolio, Irene, additional, Lorca, Victor, additional, Loud, Jennifer T., additional, Ma, Edmond S.K., additional, Mai, Phuong L., additional, Manoukian, Siranoush, additional, Mari, Veronique, additional, Martin, Lynn, additional, Matricardi, Laura, additional, Mebirouk, Noura, additional, Medici, Veronica, additional, Meijers-Heijboer, Hanne E.J., additional, Meindl, Alfons, additional, Mensenkamp, Arjen R., additional, Miller, Clare, additional, Gomes, Denise Molina, additional, Montagna, Marco, additional, Mooij, Thea M., additional, Moserle, Lidia, additional, Mouret-Fourme, Emmanuelle, additional, Mulligan, Anna Marie, additional, Nathanson, Katherine L., additional, Navratilova, Marie, additional, Nevanlinna, Heli, additional, Niederacher, Dieter, additional, Nielsen, Finn C. Cilius, additional, Nikitina-Zake, Liene, additional, Offit, Kenneth, additional, Olah, Edith, additional, Olopade, Olufunmilayo I., additional, Ong, Kai-Ren, additional, Osorio, Ana, additional, Ott, Claus-Eric, additional, Palli, Domenico, additional, Park, Sue K., additional, Parsons, Michael T., additional, Pedersen, Inge Sokilde, additional, Peissel, Bernard, additional, Peixoto, Ana, additional, Pérez-Segura, Pedro, additional, Peterlongo, Paolo, additional, Petersen, Annabeth Høgh, additional, Porteous, Mary E., additional, Pujana, Miguel Angel, additional, Radice, Paolo, additional, Ramser, Juliane, additional, Rantala, Johanna, additional, Rashid, Muhammad U., additional, Rhiem, Kerstin, additional, Rizzolo, Piera, additional, Robson, Mark E., additional, Rookus, Matti A., additional, Rossing, Caroline M., additional, Ruddy, Kathryn J., additional, Santos, Catarina, additional, Saule, Claire, additional, Scarpitta, Rosa, additional, Schmutzler, Rita K., additional, Schuster, Hélène, additional, Senter, Leigha, additional, Seynaeve, Caroline M., additional, Shah, Payal D., additional, Sharma, Priyanka, additional, Shin, Vivian Y., additional, Silvestri, Valentina, additional, Simard, Jacques, additional, Singer, Christian F., additional, Skytte, Anne-Bine, additional, Snape, Katie, additional, Solano, Angela R., additional, Soucy, Penny, additional, Southey, Melissa C., additional, Spurdle, Amanda B., additional, Steele, Linda, additional, Steinemann, Doris, additional, Stoppa-Lyonnet, Dominique, additional, Stradella, Agostina, additional, Sunde, Lone, additional, Sutter, Christian, additional, Tan, Yen Y., additional, Teixeira, Manuel R., additional, Teo, Soo Hwang, additional, Thomassen, Mads, additional, Tibiletti, Maria Grazia, additional, Tischkowitz, Marc, additional, Tognazzo, Silvia, additional, Toland, Amanda E., additional, Tommasi, Stefania, additional, Torres, Diana, additional, Toss, Angela, additional, Trainer, Alison H., additional, Tung, Nadine, additional, van Asperen, Christi J., additional, van der Baan, Frederieke H., additional, van der Kolk, Lizet E., additional, van der Luijt, Rob B., additional, van Hest, Liselotte P., additional, Varesco, Liliana, additional, Varon-Mateeva, Raymonda, additional, Viel, Alessandra, additional, Vierstraete, Jeroen, additional, Villa, Roberta, additional, von Wachenfeldt, Anna, additional, Wagner, Philipp, additional, Wang-Gohrke, Shan, additional, Wappenschmidt, Barbara, additional, Weitzel, Jeffrey N., additional, Wieme, Greet, additional, Yadav, Siddhartha, additional, Yannoukakos, Drakoulis, additional, Yoon, Sook-Yee, additional, Zanzottera, Cristina, additional, Zorn, Kristin K., additional, D'Amico, Anthony V., additional, Freedman, Matthew L., additional, Pomerantz, Mark M., additional, Chenevix-Trench, Georgia, additional, Antoniou, Antonis C., additional, Neuhausen, Susan L., additional, Ottini, Laura, additional, Nielsen, Henriette Roed, additional, and Rebbeck, Timothy R., additional

Published
2020
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22. High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Diets, Illja J., primary, Waanders, Esmé, additional, Ligtenberg, Marjolijn J., additional, van Bladel, Diede A.G., additional, Kamping, Eveline J., additional, Hoogerbrugge, Peter M., additional, Hopman, Saskia, additional, Olderode-Berends, Maran J., additional, Gerkes, Erica H., additional, Koolen, David A., additional, Marcelis, Carlo, additional, Santen, Gijs W., additional, van Belzen, Martine J., additional, Mordaunt, Dylan, additional, McGregor, Lesley, additional, Thompson, Elizabeth, additional, Kattamis, Antonis, additional, Pastorczak, Agata, additional, Mlynarski, Wojciech, additional, Ilencikova, Denisa, additional, van Silfhout, Anneke Vulto-, additional, Gardeitchik, Thatjana, additional, de Bont, Eveline S., additional, Loeffen, Jan, additional, Wagner, Anja, additional, Mensenkamp, Arjen R., additional, Kuiper, Roland P., additional, Hoogerbrugge, Nicoline, additional, and Jongmans, Marjolijn C., additional

Published
2018
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23. Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

Author

Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, and Fred C.G.J. Sweep

Subjects
Male, Cancer Research, SDHB, Adrenal Gland Neoplasms, Succinic Acid, DCN PAC - Perception action and control, Mitochondrion, Catecholamines, 0302 clinical medicine, Paraganglioma, Citrate synthase, 0303 health sciences, Cardiovascular diseases [NCEBP 14], Electron Transport Complex II, Succinate dehydrogenase, Middle Aged, Mitochondria, 3. Good health, Mitochondrial medicine [IGMD 8], Oncology, 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Internal medicine, ONCOL 3 - Translational research DCN MP - Plasticity and memory, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], Hormonal regulation [IGMD 6], Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1], biology.protein, Catecholamine, Hormonal regulation Aetiology, screening and detection [IGMD 6], SDHD, Energy Metabolism
Abstract

Purpose: Pheochromocytomas and paragangliomas (PGL) are neuroendocrine tumors of sympathetic and parasympathetic paraganglia. This study investigated the relationships between genotype-specific differences in mitochondrial function and catecholamine content in PGL tumors. Experimental Design: Respiratory chain enzyme assays and 1H-nuclear magnetic resonance (NMR) spectroscopy at 500 MHz were conducted on homogenates of 35 sporadic PGLs and 59 PGLs from patients with hereditary mutations in succinate dehydrogenase subunits B and D (SDHB, SDHD), succinate dehydrogenase assembly factor 2, von Hippel-Lindau (VHL), rearranged during transfection (RET), neurofibromatosis type 1 (NF1), and myc-associated factor X. Results: In SDHx-related PGLs, a significant decrease in complex II activity (P < 0.0001) and a significant increase in complex I, III, and IV enzyme activities were observed when compared to sporadic, RET, and NF1 tumors. Also, a significant increase in citrate synthase (P < 0.0001) enzyme activity was observed in SDHx-related PGLs when compared to sporadic-, VHL-, RET-, and NF1-related tumors. An increase in succinate accumulation (P < 0.001) and decrease in ATP/ADP/AMP accumulation (P < 0.001) was observed when compared to sporadic PGLs and PGLs of other genotypes. Positive correlations (P < 0.01) were observed between respiratory chain complex II activity and total catecholamine content and ATP/ADP/AMP and total catecholamine contents in tumor tissues. Conclusions: This study for the first time establishes a relationship between determinants of energy metabolism, like activity of respiratory chain enzyme complex II, ATP/ADP/AMP content, and catecholamine content in PGL tumors. Also, this study for the first time successfully uses NMR spectroscopy to detect catecholamines in PGL tumors and provides ex vivo evidence for the accumulation of succinate in PGL tumors with an SDHx mutation. Clin Cancer Res; 19(14); 3787–95. ©2013 AACR.

Published
2013
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24. Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Author

Vos, Janet R., primary, Oosterwijk, Jan C., additional, Aalfs, Cora M., additional, Rookus, Matti A., additional, Adank, Muriel A., additional, van der Hout, Annemarie H., additional, van Asperen, Christi J., additional, Gómez Garcia, Encarna B., additional, Mensenkamp, Arjen R., additional, Jager, Agnes, additional, Ausems, Margreet G.E.M., additional, Mourits, Marian J., additional, and de Bock, Geertruida H., additional

Published
2016
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25. Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

Author

Rao, Jyotsna U., primary, Engelke, Udo F.H., additional, Rodenburg, Richard J.T., additional, Wevers, Ron A., additional, Pacak, Karel, additional, Eisenhofer, Graeme, additional, Qin, Nan, additional, Kusters, Benno, additional, Goudswaard, Angelina G., additional, Lenders, Jacques W.M., additional, Hermus, Ad R.M.M., additional, Mensenkamp, Arjen R., additional, Kunst, Henricus P.M., additional, Sweep, Fred C.G.J., additional, and Timmers, Henri J.L.M., additional

Published
2013
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27. Abstract 4222: Ion AmpliSeq Panel for the DNA sequencing of BRCA1 and BRCA2 genes on Ion Torrent PGM

Author

Rosella Petraroli, José Carlos Machado, Alain Rico, Arjen R. Mensenkamp, Guoying Liu, José Luis Costa, and Marjolijn J L Ligtenberg

Subjects
Genetics, Sanger sequencing, Cancer Research, Massive parallel sequencing, Genomics, Ion semiconductor sequencing, Amplicon, Biology, DNA sequencing, symbols.namesake, Oncology, Multiplex polymerase chain reaction, symbols, Indel
Abstract

The development of massive parallel sequencing (MPS) has revolutionized the field of genomics and created new avenues for basic research. The introduction of the benchtop sequencers enables the development of methodologies for genetic screening that are faster, more comprehensive and more cost-effective than conventional Sanger sequencing. In this study we describe a collaborative effort for the validation of a strategy for the screening of the breast cancer susceptibility genes- BRCA1 and BRCA2, making use of the most recent advances on Ion AmpliSeq™ multiplex PCR technology combined with Ion PGM™ System. Strict criteria were set to the design of the amplification primers: 1) 100% coverage of all coding exons and exon-intron boundaries; 2) amplicons covering exons must be overlapping; 3) primers must not overlap; 4) no SNPs in the last five nucleotides of primer; and 5) maximum of three non-validated SNPs per primer. Constitutional genomic DNA of 50 BRCA1 or BRCA2 mutated cases are used. The cases are divided in two groups. The first 20 cases are used to test and optimize the methodology and are selected based on the presence of mutations in or within close proximity to homopolymer regions. The additional 30 cases are used for an independent and blind evaluation and power estimation of the new methodology. All samples are studied using both “gold standard” Sanger sequencing and Ion PGM System. For data-analysis various software packages are evaluated. In the first 19 cases all SNPs and mutations, identified by Sanger sequencing were detected with our Ion AmpliSeq™ based approach. The disease-causing mutations identified included missense, nonsense and indel mutations. The number false positive results were always less than five per sample and reproducible. This work demonstrates the potential for mutational screening of BRCA1 and BRCA2 using the Ion AmpliSeq™ technology combined with the Ion Torrent PGM. Citation Format: Jose L. Costa, Arjen Mensenkamp, Alain Rico, Guoying Liu, Rosella Petraroli, Marjolijn Ligtenberg, Jose Carlos Machado. Ion AmpliSeq Panel for the DNA sequencing of BRCA1 and BRCA2 genes on Ion Torrent PGM. [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr 4222. doi:10.1158/1538-7445.AM2013-4222

Published
2013
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28. MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Author

Burnichon, Nelly, primary, Cascón, Alberto, additional, Schiavi, Francesca, additional, Morales, Nicole Paes, additional, Comino-Méndez, Iñaki, additional, Abermil, Nasséra, additional, Inglada-Pérez, Lucía, additional, de Cubas, Aguirre A., additional, Amar, Laurence, additional, Barontini, Marta, additional, de Quirós, Sandra Bernaldo, additional, Bertherat, Jérôme, additional, Bignon, Yves-Jean, additional, Blok, Marinus J., additional, Bobisse, Sara, additional, Borrego, Salud, additional, Castellano, Maurizio, additional, Chanson, Philippe, additional, Chiara, María-Dolores, additional, Corssmit, Eleonora P.M., additional, Giacchè, Mara, additional, de Krijger, Ronald R., additional, Ercolino, Tonino, additional, Girerd, Xavier, additional, Gómez-García, Encarna B., additional, Gómez-Graña, Álvaro, additional, Guilhem, Isabelle, additional, Hes, Frederik J., additional, Honrado, Emiliano, additional, Korpershoek, Esther, additional, Lenders, Jacques W.M., additional, Letón, Rocío, additional, Mensenkamp, Arjen R., additional, Merlo, Anna, additional, Mori, Luigi, additional, Murat, Arnaud, additional, Pierre, Peggy, additional, Plouin, Pierre-François, additional, Prodanov, Tamara, additional, Quesada-Charneco, Miguel, additional, Qin, Nan, additional, Rapizzi, Elena, additional, Raymond, Victoria, additional, Reisch, Nicole, additional, Roncador, Giovanna, additional, Ruiz-Ferrer, Macarena, additional, Schillo, Frank, additional, Stegmann, Alexander P.A., additional, Suarez, Carlos, additional, Taschin, Elisa, additional, Timmers, Henri J.L.M., additional, Tops, Carli M.J., additional, Urioste, Miguel, additional, Beuschlein, Felix, additional, Pacak, Karel, additional, Mannelli, Massimo, additional, Dahia, Patricia L. M., additional, Opocher, Giuseppe, additional, Eisenhofer, Graeme, additional, Gimenez-Roqueplo, Anne-Paule, additional, and Robledo, Mercedes, additional

Published
2012
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29. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author

Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Birgitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Calvello, Mariarosaria, Campbell, Ian G, Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L, Chu, Annie TW, Chung, Wendy K, Claes, Kathleen BM, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, De La Hoya, Miguel, Puppa, Lara Della, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gutierrez-Barrera, Angelica M, Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans BL, Honisch, Ellen, Hopper, John L, Hulick, Peter J, Investigators, KConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M, Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A, Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond SK, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Mensenkamp, Arjen R, Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L, Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Høgh, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline M, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y, Teixeira, Manuel R, Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H, Tung, Nadine, Van Asperen, Christi J, Van Der Baan, Frederieke H, Van Der Kolk, Lizet E, Van Der Luijt, Rob B, Van Hest, Liselotte P, Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstraete, Jeroen, Villa, Roberta, Von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K, D'Amico, Anthony V, Freedman, Matthew L, Pomerantz, Mark M, Chenevix-Trench, Georgia, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, and Rebbeck, Timothy R

Subjects
Adult, Aged, 80 and over, BRCA2 Protein, Male, Heterozygote, endocrine system diseases, Adolescent, BRCA1 Protein, Prostatic Neoplasms, Genomics, Middle Aged, Prognosis, 3. Good health, Young Adult, Risk Factors, Mutation, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases, Genetic Association Studies, Aged
Abstract

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3' region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. SIGNIFICANCE: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.

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