Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression (438 views)
Fam Cancer (ISSN: 1389-9600), 2014 Jun; 13(2): 273-280.
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Paper type: Journal Article,
Impact factor: 1.977, 5-year impact factor: 1.792
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84903277879&partnerID=40&md5=bcf0a05162f977360238ceee1db077f6
Keywords: Gene Deletions, Genetic Analysis, Men1, Mlpa, Quantitative Pcr, Menin Protein, Tumor Protein, Unclassified Drug, Adult, Aged, Article, Case Report, Controlled Study, Copy Number Variation, Exon, Familial Cancer, Female, Gene Function, Gene Mutation, Human, Human Tissue, Middle Aged, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type 1 Gene, Multiplex Ligation Dependent Probe Amplification, Phenotype, Priority Journal, Protein Depletion, Protein Expression, Real Time Polymerase Chain Reaction, Sequence Analysis, Tumor Gene, Young Adult,
Affiliations:
*** IBB - CNR ***
Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Via Savonarola 9, 44100 Ferrara, Italy
LTTA, University of Ferrara, Via Fossato di Mortara 70, 44100 Ferrara, Italy
Department of Clinical Genetics, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Section of Pathology, Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy
References:
Thakker, R.V., Newey, P.J., Walls, G.V., Bilezikian, J., Dralle, H., Ebeling, P.R., Melmed, S., Brandi, M.L., Endocrine society clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1) (2012) J Clin Endocrinol Metab, 97, pp. 2990-3011. , doi:10.1210/jc.2012-123
Thakker, R.V., Multiple endocrine neoplasia type 1 (MEN1) (2010) Best Pract Res Clin Endocrinol Metab, 24, pp. 355-370. , doi:10.4103/2230-8210.104058
Falchetti, A., Brandi, M.L., Multiple endocrine neoplasia type I variants and phenocopies: More than a nosological issue? (2009) J Clin Endocrinol Metab, 94, pp. 1518-1520. , doi:10.1210/jc.2009-0494
Sakurai, A., Suzuki, S., Kosugi, S., Okamoto, T., Uchino, S., Miya, A., Imai, T., Yamazaki, M., Multiple endocrine neoplasia type 1 in Japan: Establishment and analysis of a multicentre database (2012) Clin Endocrinol (Oxf), 76, pp. 533-539. , doi:10.1111/j.1365-2265.2011.04227.x MEN Consortium of Japan
Lemos, M.C., Thakker, R.V., Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene (2008) Hum Mutat, 29, pp. 22-32. , doi:10.1002/humu.20605
Tham, E., Grandell, U., Lindgren, E., Toss, G., Skogseid, B., Nordenskjold, M., Clinical testing for mutations in the MEN1 gene in Sweden: A report on 200 unrelated cases (2007) Journal of Clinical Endocrinology and Metabolism, 92 (9), pp. 3389-3395. , http://jcem.endojournals.org/cgi/reprint/92/9/3389, DOI 10.1210/jc.2007-0476
Jager, A.C., Friis-Hansen, L., Hansen, T.V., Eskildsen, P.C., Solling, K., Knigge, U., Hansen, C.P., Nielsen, F.C., Characteristics of the Danish families with multiple endocrine neoplasia type 1 (2006) Mol Cell Endocrinol, 249, pp. 123-132. , doi:10.1016/j.mce.2006.02.008
Karges, W., Jostarndt, K., Maier, S., Flemming, A., Weitz, M., Wissmann, A., Feldmann, B., Boehm, B.O., Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region (2000) Journal of Endocrinology, 166 (1), pp. 1-9
Giraud, S., Zhang, C.X., Serova-Sinilnikova, O., Wautot, V., Salandre, J., Buisson, N., Waterlot, C., Calender, A., Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders (1998) American Journal of Human Genetics, 63 (2), pp. 455-467. , DOI 10.1086/301953
Owens, M., Ellard, S., Vaidya, B., Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1 (2008) Clinical Endocrinology, 68 (3), pp. 350-354. , DOI 10.1111/j.1365-2265.2007.03045.x
Ellard, S., Multiple endocrine neoplasia types 1 and 2 (2004) Methods Mol Med, 92, pp. 267-283
Kong, C., Ellard, S., Johnston, C., Farid, N.R., Multiple endocrine neoplasia type 1Burin from Mauritius: A novel MEN 1 mutation (2001) Journal of Endocrinological Investigation, 24 (10), pp. 806-810
Zatelli, M.C., Trasforini, G., Leoni, S., Frigato, G., Buratto, M., Tagliati, F., Rossi, R., Degli Uberti, E.C., BRAF V600E mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma in fine-needle aspiration biopsies (2009) Eur J Endocrinol, 161, pp. 467-473. , doi:10.1530/EJE-09-0353
Alvelos, M.I., Vinagre, J., Fonseca, E., Barbosa, E., Teixeira-Gomes, J., Sobrinho-Simões, M., Soares, P., MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism (2012) Eur J Endocrinol, 168, pp. 119-128. , doi:10.1530/EJE-12-0327
Zatelli, M.C., Piccin, D., Bottoni, A., Ambrosio, M.R., Margutti, A., Padovani, R., Scanarini, M., Degli, U.E.C., Evidence for differential effects of selective somatostatin receptor subtype agonists on alpha-subunit and chromogranin A secretion and on cell viability in human nonfunctioning pituitary adenomas in vitro (2004) Journal of Clinical Endocrinology and Metabolism, 89 (10), pp. 5181-5188. , DOI 10.1210/jc.2003-031954
Kishi, M., Tsukada, T., Shimizu, S., Futami, H., Ito, Y., Kanbe, M., Obara, T., Yamaguchi, K., A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1 (1998) Japanese Journal of Cancer Research, 89 (1), pp. 1-5
Bergman, L., Boothroyd, C., Palmer, J., Grimmond, S., Walters, M., Teh, B., Shepherd, J., Hayward, N., Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours (2000) Br J Cancer, 83, pp. 1003-1008
Cavaco, B.M., Domingues, R., Bacelar, M.C., Cardoso, H., Barros, L., Gomes, L., Ruas, M.M.A., Leite, V., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions (2002) Clinical Endocrinology, 56 (4), pp. 465-473. , DOI 10.1046/j.1365-2265.2002.01505.x
Verges, B., Boureille, F., Goudet, P., Murat, A., Beckers, A., Sassolas, G., Cougard, P., Calender, A., Pituitary disease in MEN type 1 (MEN1): Data from the France-Belgium MEN1 multicenter study (2002) Journal of Clinical Endocrinology and Metabolism, 87 (2), pp. 457-465. , DOI 10.1210/jc.87.2.457
Cebrian, A., Ruiz-Llorente, S., Cascon, A., Pollan, M., Diez, J.J., Pico, A., Telleria, D., Robledo, M., Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients (2003) J Med Genet, 40, pp. e72
Kikuchi, M., Ohkura, N., Yamaguchi, K., Obara, T., Tsukada, T., Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1 (2004) Cancer Letters, 208 (1), pp. 81-88. , DOI 10.1016/j.canlet.2003.10.011, PII S0304383503007092
Lairmore, T.C., Piersall, L.D., DeBenedetti, M.K., Dilley, W.G., Mutch, M.G., Whelan, A.J., Zehnbauer, B., Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1) (2004) Ann Surg, 239, pp. 637-645. , doi:10.1097/01.sla.0000124383.98416.8d
Fukuuchi, A., Nagamura, Y., Yaguchi, H., Ohkura, N., Obara, T., Tsukada, T., A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1 (2006) Jpn J Clin Oncol, 36, pp. 739-744. , doi:10.1093/jjco/hyl089
Cosme, A., Alvarez, M., Beguiristain, A., Cobo, A.M., Robledo, M., Aranzadi, M.J., Ojeda, E., Goikoetxea, U., Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome (2008) J Gastroenterol Hepatol, 31, pp. 637-642. , doi:10.1016/S0210-5705(08)75811-4
Bergman, L., Teh, B., Cardinal, J., Palmer, J., Walters, M., Shepherd, J., Cameron, D., Hayward, N., Identification of MEN1 gene mutations in families with MEN 1 and related disorders (2000) Br J Cancer, 83, pp. 1009-1014
Thevenon, J., Bourredjem, A., Faivre, L., Cardot-Bauters, C., Calender, A., Murat, A., Giraud, S., Goudet, P., Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: A Groupe d'etude des Tumeurs Endocrines (GTE) cohort study (2013) Hum Mol Genet, 22, pp. 1940-1948. , doi:10.1093/hmg/ddt039
Thakker, R. V., Newey, P. J., Walls, G. V., Bilezikian, J., Dralle, H., Ebeling, P. R., Melmed, S., Brandi, M. L., Endocrine society clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1) (2012) J Clin Endocrinol Metab, 97, pp. 2990-3011. , doi: 10. 1210/jc. 2012-123
Thakker, R. V., Multiple endocrine neoplasia type 1 (MEN1) (2010) Best Pract Res Clin Endocrinol Metab, 24, pp. 355-370. , doi: 10. 4103/2230-8210. 104058
Lemos, M. C., Thakker, R. V., Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene (2008) Hum Mutat, 29, pp. 22-32. , doi: 10. 1002/humu. 20605
Jager, A. C., Friis-Hansen, L., Hansen, T. V., Eskildsen, P. C., Solling, K., Knigge, U., Hansen, C. P., Nielsen, F. C., Characteristics of the Danish families with multiple endocrine neoplasia type 1 (2006) Mol Cell Endocrinol, 249, pp. 123-132. , doi: 10. 1016/j. mce. 2006. 02. 008
Zatelli, M. C., Trasforini, G., Leoni, S., Frigato, G., Buratto, M., Tagliati, F., Rossi, R., Degli Uberti, E. C., BRAF V600E mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma in fine-needle aspiration biopsies (2009) Eur J Endocrinol, 161, pp. 467-473. , doi: 10. 1530/EJE-09-0353
Alvelos, M. I., Vinagre, J., Fonseca, E., Barbosa, E., Teixeira-Gomes, J., Sobrinho-Sim es, M., Soares, P., MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism (2012) Eur J Endocrinol, 168, pp. 119-128. , doi: 10. 1530/EJE-12-0327
Zatelli, M. C., Piccin, D., Bottoni, A., Ambrosio, M. R., Margutti, A., Padovani, R., Scanarini, M., Degli, U. E. C., Evidence for differential effects of selective somatostatin receptor subtype agonists on alpha-subunit and chromogranin A secretion and on cell viability in human nonfunctioning pituitary adenomas in vitro (2004) Journal of Clinical Endocrinology and Metabolism, 89 (10), pp. 5181-5188. , DOI 10. 1210/jc. 2003-031954
Cavaco, B. M., Domingues, R., Bacelar, M. C., Cardoso, H., Barros, L., Gomes, L., Ruas, M. M. A., Leite, V., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions (2002) Clinical Endocrinology, 56 (4), pp. 465-473. , DOI 10. 1046/j. 1365-2265. 2002. 01505. x
Lairmore, T. C., Piersall, L. D., DeBenedetti, M. K., Dilley, W. G., Mutch, M. G., Whelan, A. J., Zehnbauer, B., Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1) (2004) Ann Surg, 239, pp. 637-645. , doi: 10. 1097/01. sla. 0000124383. 98416. 8d
Fam Cancer (ISSN: 1389-9600), 2014 Jun; 13(2): 273-280.
Export to BibTeX Export to EndNote
Paper type: Journal Article,
Impact factor: 1.977, 5-year impact factor: 1.792
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84903277879&partnerID=40&md5=bcf0a05162f977360238ceee1db077f6
Keywords: Gene Deletions, Genetic Analysis, Men1, Mlpa, Quantitative Pcr, Menin Protein, Tumor Protein, Unclassified Drug, Adult, Aged, Article, Case Report, Controlled Study, Copy Number Variation, Exon, Familial Cancer, Female, Gene Function, Gene Mutation, Human, Human Tissue, Middle Aged, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type 1 Gene, Multiplex Ligation Dependent Probe Amplification, Phenotype, Priority Journal, Protein Depletion, Protein Expression, Real Time Polymerase Chain Reaction, Sequence Analysis, Tumor Gene, Young Adult,
Affiliations:
*** IBB - CNR ***
Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Via Savonarola 9, 44100 Ferrara, Italy
LTTA, University of Ferrara, Via Fossato di Mortara 70, 44100 Ferrara, Italy
Department of Clinical Genetics, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Section of Pathology, Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy
References:
Thakker, R.V., Newey, P.J., Walls, G.V., Bilezikian, J., Dralle, H., Ebeling, P.R., Melmed, S., Brandi, M.L., Endocrine society clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1) (2012) J Clin Endocrinol Metab, 97, pp. 2990-3011. , doi:10.1210/jc.2012-123
Thakker, R.V., Multiple endocrine neoplasia type 1 (MEN1) (2010) Best Pract Res Clin Endocrinol Metab, 24, pp. 355-370. , doi:10.4103/2230-8210.104058
Falchetti, A., Brandi, M.L., Multiple endocrine neoplasia type I variants and phenocopies: More than a nosological issue? (2009) J Clin Endocrinol Metab, 94, pp. 1518-1520. , doi:10.1210/jc.2009-0494
Sakurai, A., Suzuki, S., Kosugi, S., Okamoto, T., Uchino, S., Miya, A., Imai, T., Yamazaki, M., Multiple endocrine neoplasia type 1 in Japan: Establishment and analysis of a multicentre database (2012) Clin Endocrinol (Oxf), 76, pp. 533-539. , doi:10.1111/j.1365-2265.2011.04227.x MEN Consortium of Japan
Lemos, M.C., Thakker, R.V., Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene (2008) Hum Mutat, 29, pp. 22-32. , doi:10.1002/humu.20605
Tham, E., Grandell, U., Lindgren, E., Toss, G., Skogseid, B., Nordenskjold, M., Clinical testing for mutations in the MEN1 gene in Sweden: A report on 200 unrelated cases (2007) Journal of Clinical Endocrinology and Metabolism, 92 (9), pp. 3389-3395. , http://jcem.endojournals.org/cgi/reprint/92/9/3389, DOI 10.1210/jc.2007-0476
Jager, A.C., Friis-Hansen, L., Hansen, T.V., Eskildsen, P.C., Solling, K., Knigge, U., Hansen, C.P., Nielsen, F.C., Characteristics of the Danish families with multiple endocrine neoplasia type 1 (2006) Mol Cell Endocrinol, 249, pp. 123-132. , doi:10.1016/j.mce.2006.02.008
Karges, W., Jostarndt, K., Maier, S., Flemming, A., Weitz, M., Wissmann, A., Feldmann, B., Boehm, B.O., Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region (2000) Journal of Endocrinology, 166 (1), pp. 1-9
Giraud, S., Zhang, C.X., Serova-Sinilnikova, O., Wautot, V., Salandre, J., Buisson, N., Waterlot, C., Calender, A., Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders (1998) American Journal of Human Genetics, 63 (2), pp. 455-467. , DOI 10.1086/301953
Owens, M., Ellard, S., Vaidya, B., Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1 (2008) Clinical Endocrinology, 68 (3), pp. 350-354. , DOI 10.1111/j.1365-2265.2007.03045.x
Ellard, S., Multiple endocrine neoplasia types 1 and 2 (2004) Methods Mol Med, 92, pp. 267-283
Kong, C., Ellard, S., Johnston, C., Farid, N.R., Multiple endocrine neoplasia type 1Burin from Mauritius: A novel MEN 1 mutation (2001) Journal of Endocrinological Investigation, 24 (10), pp. 806-810
Zatelli, M.C., Trasforini, G., Leoni, S., Frigato, G., Buratto, M., Tagliati, F., Rossi, R., Degli Uberti, E.C., BRAF V600E mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma in fine-needle aspiration biopsies (2009) Eur J Endocrinol, 161, pp. 467-473. , doi:10.1530/EJE-09-0353
Alvelos, M.I., Vinagre, J., Fonseca, E., Barbosa, E., Teixeira-Gomes, J., Sobrinho-Simões, M., Soares, P., MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism (2012) Eur J Endocrinol, 168, pp. 119-128. , doi:10.1530/EJE-12-0327
Zatelli, M.C., Piccin, D., Bottoni, A., Ambrosio, M.R., Margutti, A., Padovani, R., Scanarini, M., Degli, U.E.C., Evidence for differential effects of selective somatostatin receptor subtype agonists on alpha-subunit and chromogranin A secretion and on cell viability in human nonfunctioning pituitary adenomas in vitro (2004) Journal of Clinical Endocrinology and Metabolism, 89 (10), pp. 5181-5188. , DOI 10.1210/jc.2003-031954
Kishi, M., Tsukada, T., Shimizu, S., Futami, H., Ito, Y., Kanbe, M., Obara, T., Yamaguchi, K., A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1 (1998) Japanese Journal of Cancer Research, 89 (1), pp. 1-5
Bergman, L., Boothroyd, C., Palmer, J., Grimmond, S., Walters, M., Teh, B., Shepherd, J., Hayward, N., Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours (2000) Br J Cancer, 83, pp. 1003-1008
Cavaco, B.M., Domingues, R., Bacelar, M.C., Cardoso, H., Barros, L., Gomes, L., Ruas, M.M.A., Leite, V., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions (2002) Clinical Endocrinology, 56 (4), pp. 465-473. , DOI 10.1046/j.1365-2265.2002.01505.x
Verges, B., Boureille, F., Goudet, P., Murat, A., Beckers, A., Sassolas, G., Cougard, P., Calender, A., Pituitary disease in MEN type 1 (MEN1): Data from the France-Belgium MEN1 multicenter study (2002) Journal of Clinical Endocrinology and Metabolism, 87 (2), pp. 457-465. , DOI 10.1210/jc.87.2.457
Cebrian, A., Ruiz-Llorente, S., Cascon, A., Pollan, M., Diez, J.J., Pico, A., Telleria, D., Robledo, M., Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients (2003) J Med Genet, 40, pp. e72
Kikuchi, M., Ohkura, N., Yamaguchi, K., Obara, T., Tsukada, T., Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1 (2004) Cancer Letters, 208 (1), pp. 81-88. , DOI 10.1016/j.canlet.2003.10.011, PII S0304383503007092
Lairmore, T.C., Piersall, L.D., DeBenedetti, M.K., Dilley, W.G., Mutch, M.G., Whelan, A.J., Zehnbauer, B., Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1) (2004) Ann Surg, 239, pp. 637-645. , doi:10.1097/01.sla.0000124383.98416.8d
Fukuuchi, A., Nagamura, Y., Yaguchi, H., Ohkura, N., Obara, T., Tsukada, T., A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1 (2006) Jpn J Clin Oncol, 36, pp. 739-744. , doi:10.1093/jjco/hyl089
Cosme, A., Alvarez, M., Beguiristain, A., Cobo, A.M., Robledo, M., Aranzadi, M.J., Ojeda, E., Goikoetxea, U., Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome (2008) J Gastroenterol Hepatol, 31, pp. 637-642. , doi:10.1016/S0210-5705(08)75811-4
Bergman, L., Teh, B., Cardinal, J., Palmer, J., Walters, M., Shepherd, J., Cameron, D., Hayward, N., Identification of MEN1 gene mutations in families with MEN 1 and related disorders (2000) Br J Cancer, 83, pp. 1009-1014
Thevenon, J., Bourredjem, A., Faivre, L., Cardot-Bauters, C., Calender, A., Murat, A., Giraud, S., Goudet, P., Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: A Groupe d'etude des Tumeurs Endocrines (GTE) cohort study (2013) Hum Mol Genet, 22, pp. 1940-1948. , doi:10.1093/hmg/ddt039
Thakker, R. V., Newey, P. J., Walls, G. V., Bilezikian, J., Dralle, H., Ebeling, P. R., Melmed, S., Brandi, M. L., Endocrine society clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1) (2012) J Clin Endocrinol Metab, 97, pp. 2990-3011. , doi: 10. 1210/jc. 2012-123
Thakker, R. V., Multiple endocrine neoplasia type 1 (MEN1) (2010) Best Pract Res Clin Endocrinol Metab, 24, pp. 355-370. , doi: 10. 4103/2230-8210. 104058
Lemos, M. C., Thakker, R. V., Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene (2008) Hum Mutat, 29, pp. 22-32. , doi: 10. 1002/humu. 20605
Jager, A. C., Friis-Hansen, L., Hansen, T. V., Eskildsen, P. C., Solling, K., Knigge, U., Hansen, C. P., Nielsen, F. C., Characteristics of the Danish families with multiple endocrine neoplasia type 1 (2006) Mol Cell Endocrinol, 249, pp. 123-132. , doi: 10. 1016/j. mce. 2006. 02. 008
Zatelli, M. C., Trasforini, G., Leoni, S., Frigato, G., Buratto, M., Tagliati, F., Rossi, R., Degli Uberti, E. C., BRAF V600E mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma in fine-needle aspiration biopsies (2009) Eur J Endocrinol, 161, pp. 467-473. , doi: 10. 1530/EJE-09-0353
Alvelos, M. I., Vinagre, J., Fonseca, E., Barbosa, E., Teixeira-Gomes, J., Sobrinho-Sim es, M., Soares, P., MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism (2012) Eur J Endocrinol, 168, pp. 119-128. , doi: 10. 1530/EJE-12-0327
Zatelli, M. C., Piccin, D., Bottoni, A., Ambrosio, M. R., Margutti, A., Padovani, R., Scanarini, M., Degli, U. E. C., Evidence for differential effects of selective somatostatin receptor subtype agonists on alpha-subunit and chromogranin A secretion and on cell viability in human nonfunctioning pituitary adenomas in vitro (2004) Journal of Clinical Endocrinology and Metabolism, 89 (10), pp. 5181-5188. , DOI 10. 1210/jc. 2003-031954
Cavaco, B. M., Domingues, R., Bacelar, M. C., Cardoso, H., Barros, L., Gomes, L., Ruas, M. M. A., Leite, V., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions (2002) Clinical Endocrinology, 56 (4), pp. 465-473. , DOI 10. 1046/j. 1365-2265. 2002. 01505. x
Lairmore, T. C., Piersall, L. D., DeBenedetti, M. K., Dilley, W. G., Mutch, M. G., Whelan, A. J., Zehnbauer, B., Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1) (2004) Ann Surg, 239, pp. 637-645. , doi: 10. 1097/01. sla. 0000124383. 98416. 8d
Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene (chromosome 11q13). MEN1 mutations are mainly represented by nonsense, deletions/insertions, splice site or missense mutations that can be detected by direct sequencing of genomic DNA. However, MEN1 patients with large heterozygous deletions may escape classical genetic screening and may be misidentified as phenocopies, thereby hindering proper clinical surveillance. We employed a real-time polymerase chain reaction application, the TaqMan copy number variation assay, to evaluate a family in which we failed to identify an MEN1 mutation by direct sequencing, despite a clear clinical diagnosis of MEN1 syndrome. Using the TaqMan copy number variation assay we identified a large deletion of the MEN1 gene involving exons 1 and 2, in three affected family members, but not in the other nine family members that were to date clinically unaffected. The same genetic alteration was not found in a group of ten unaffected subjects, without family history of endocrine tumors. The MEN1 deletion was further confirmed by multiplex ligation-dependent probe amplification, which showed the deletion extended from exon 1 to exon 3. This new approach allowed us to correctly genetically diagnose three clinical MEN1 patients that were previously considered as MEN1 phenocopies. More importantly, we excluded the presence of genetic alterations in the unaffected family members. These results underline the importance of using a variety of available biotechnology approaches when pursuing a genetic diagnosis in a clinically suggestive setting of inherited endocrine cancer. © 2014 Springer Science+Business Media.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene (chromosome 11q13). MEN1 mutations are mainly represented by nonsense, deletions/insertions, splice site or missense mutations that can be detected by direct sequencing of genomic DNA. However, MEN1 patients with large heterozygous deletions may escape classical genetic screening and may be misidentified as phenocopies, thereby hindering proper clinical surveillance. We employed a real-time polymerase chain reaction application, the TaqMan copy number variation assay, to evaluate a family in which we failed to identify an MEN1 mutation by direct sequencing, despite a clear clinical diagnosis of MEN1 syndrome. Using the TaqMan copy number variation assay we identified a large deletion of the MEN1 gene involving exons 1 and 2, in three affected family members, but not in the other nine family members that were to date clinically unaffected. The same genetic alteration was not found in a group of ten unaffected subjects, without family history of endocrine tumors. The MEN1 deletion was further confirmed by multiplex ligation-dependent probe amplification, which showed the deletion extended from exon 1 to exon 3. This new approach allowed us to correctly genetically diagnose three clinical MEN1 patients that were previously considered as MEN1 phenocopies. More importantly, we excluded the presence of genetic alterations in the unaffected family members. These results underline the importance of using a variety of available biotechnology approaches when pursuing a genetic diagnosis in a clinically suggestive setting of inherited endocrine cancer. © 2014 Springer Science+Business Media.
Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression
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Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression
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7 Records (6 excluding Abstracts).
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Total 5 year impact factor: 57.658 (46.305 excluding Abstracts).
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