Portal de Periódicos da CAPES

A novel deletion in exon 15 of the adenomatous polyposis coli gene in an Italian kindred

1994; Wiley; Volume: 3; Issue: 3 Linguagem: Inglês

10.1002/humu.1380030320

1098-1004

Alessandro Cama, Raffaele Palmirotta, Diana L. Esposito, Maria Cristina Curia, Annalisa Ranieri, Ferdinando Ficari, R Valanzano, Pasquale Battista, Luigi Frati, Francesco Tonelli, Renato Mariani‐Costantini,

Cancer Genomics and Diagnostics

Human MutationVolume 3, Issue 3 p. 301-304 Mutation in Brief A novel deletion in exon 15 of the adenomatous polyposis coli gene in an Italian kindred Alessandro Cama, Alessandro Cama Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorRaffaele Palmirotta, Raffaele Palmirotta Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorDiana Esposito, Diana Esposito Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorMaria Cristina Curia, Maria Cristina Curia Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorAnnalisa Ranieri, Annalisa Ranieri Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorFerdinando Ficari, Ferdinando Ficari Dipartimento di Fisiopatologia Clinica, Università di Firenze, Firenze, ItalySearch for more papers by this authorRosa Valanzano, Rosa Valanzano Dipartimento di Fisiopatologia Clinica, Università di Firenze, Firenze, ItalySearch for more papers by this authorPasquale Battista, Pasquale Battista Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorLuigi Frati, Luigi Frati Dipatimento di Medicina Sperimentale, Università “La Sapienza”, Roma, ItalySearch for more papers by this authorFrancesco Tonelli, Francesco Tonelli Dipartimento di Fisiopatologia Clinica, Università di Firenze, Firenze, ItalySearch for more papers by this authorRenato Mariani-Costantini, Corresponding Author Renato Mariani-Costantini Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalyIstituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this author Alessandro Cama, Alessandro Cama Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorRaffaele Palmirotta, Raffaele Palmirotta Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorDiana Esposito, Diana Esposito Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorMaria Cristina Curia, Maria Cristina Curia Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorAnnalisa Ranieri, Annalisa Ranieri Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorFerdinando Ficari, Ferdinando Ficari Dipartimento di Fisiopatologia Clinica, Università di Firenze, Firenze, ItalySearch for more papers by this authorRosa Valanzano, Rosa Valanzano Dipartimento di Fisiopatologia Clinica, Università di Firenze, Firenze, ItalySearch for more papers by this authorPasquale Battista, Pasquale Battista Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this authorLuigi Frati, Luigi Frati Dipatimento di Medicina Sperimentale, Università “La Sapienza”, Roma, ItalySearch for more papers by this authorFrancesco Tonelli, Francesco Tonelli Dipartimento di Fisiopatologia Clinica, Università di Firenze, Firenze, ItalySearch for more papers by this authorRenato Mariani-Costantini, Corresponding Author Renato Mariani-Costantini Istituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalyIstituto di Patologia Umana e Medicina Sociale, Università “Gabriele D'Annunzio”, Chieti, ItalySearch for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380030320Citations: 7AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References Baker RH, Heineman MH, Miller HH, De Cosse JJ (1988) Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis. Am J Med Genet 31: 427– 435. Burn J, Chapman P, Delhanty J, Wood C, Lalloo F, Cachon-Gonzalez MB, Tsioupra K, Church W, Rhodes M, Gunn A (1991) The UK Northern Region genetic register tor familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J Med Genet 28: 289– 296. Cama A, Patterson A, Kadowaki T, Siegel G, D'Ambrosio D, Lillioja S, Roth J, Taylor SI (1990) The amino acid sequence of the insulin receptor is normal in an insulin resistant Pima Indian. J Clin Endocrinol Metab 70: 1155– 1161. Cama A, Sierra ML, Ottini L, Kadowaki T, Imperato-McGinley J, Taylor SI (1991) A mutation in the tyrosine kinase domain of the insulin receptor causing insulin resistance in an obese woman. J Clin Endocrinol Metab 73: 894– 899. Cottrell S, Bicknell D, Kaklamanis L, Bodmer WF (1992) Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet 340: 626– 630. Fodde R, van der Luut R, Wunen J, Tops C, van der Klift H, van Leeuwen-Cornelisse I, Griffioen G, Vasen H, Meera Khan P (1992) Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics 13: 1162– 1168. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66: 589– 600. Groden J, Gelbert L, Thliveris A, Nelson L, Robertson M, Joslyn G, Samowitz W, Spirio L, Carlson M, Burt R, Leppert M, White R (1993) Mutational analysis of patients with adenomatous polyposis: Identical inactivating mutations in unrelated individuals. Am J Hum Genet 52: 263– 272. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, Groden J, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Le Paslier D, Abderrahim H, Cohen D, Leppert M, White R (1991) Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 66: 601– 613. Kadowaki T, Kadowaki H, Taylor SI (1990) A nonsense mutation causing decreased levels of insulin receptor mRNA: Detection by a simplified technique for direct sequencing of genomic DNA amplified by polymerase chain reaction. Proc Natl Acad Sci USA 87: 658– 662. Kinzler KW, Nilbert, MC, Su L, Vogelstein B, Bryan TM, Levy OB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finniear R, Markham A, Groffen J, Boguski MS, Altschul SF, Horii A, Ando H, Miyoshi Y, Miki Y, Nisbisho I, Nakamura Y (1991) Identification of FAP locus genes from chromosome 5q21. Science 253: 661– 665. Miyoshi Y, Ando H, Nagase H, Nisbisho I, Horii A, Miki Y, Mori T, Utsunomiya J, Baba S, Petersen G, Hamilton SR, Kinzler K, Vogelstein B, Nakamura Y (1992) Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 89: 4452– 4456. Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen G, Vogelstein B, Maher E, Ogawa M, Maruyama M, Utsunomiya J, Baba S, Nakamura Y (1992) Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mut 1: 467– 473. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P, Markham A, Krush AJ, Petersen G, Hamilton SR, Nilbert MC, Levy DB, Bryan TM, Preisinger AC, Smith KJ, Su L, Kinzler KW, Vogelstein B (1991) Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253: 665– 669. Painter TA, Jegelman DG (1985) Adrenal adenomas and adrenal carcinomas in association with hereditary adenomatosis of the colon and rectum. Cancer 55: 2001– 2004. Stella A, Lonoce A, Resta N, Gentile M, Susca F, Mareni C, Brescia G, Origoni P, Montero MP, Guanti G (1992) Familial adenomatous polyposis: Identification of a new frameshift mutation in an Italian family. Biochem Biophys Res Commun 184: 1357– 1363. Utsunomiya J (1989) Pathology, genetics, and management of hereditary gastrointestinal polyposes. In HT Lynch, T Hirayama (eds): Genetic Epidemiology of Cancer. Boca Raton, FL: CRC Press, pp 219– 249. Varesco L, Gismondi V, James R, Robertson M, Grammatico P, Groden J, Casa L, De Benedetti L, Bafico A, Bertario L, Sala P, Sassatelli R, Ponz de Leon M, Biasco G, Allegretti A, Aste H, De Sanctis S, Rossetti C, Illeni MT, Sciarra A, Del Porto G, White R, Ferrara GB (1993) Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis. Am J Hum Genet 52: 280– 285. Citing Literature Volume3, Issue31994Pages 301-304 ReferencesRelatedInformation