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Asesoramiento clínico a los portadores sanos" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "497" "paginaFinal" => "499" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Judith Balmaña, Josep Nomdedéu, Orland Díez, Josep Maria Sabaté, Anna Balil, Carles Pericay, Juan José López López, Joan Brunet, Montse Baiget, Carmen Alonso" "autores" => array:10 [ 0 => array:4 [ "nombre" => "Judith" "apellidos" => "Balmaña" "email" => array:1 [ 0 => "jbalmana@hsp.santpau.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Josep" "apellidos" => "Nomdedéu" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Orland" "apellidos" => "Díez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 3 => array:3 [ "nombre" => "Josep" "apellidos" => "Maria Sabaté" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] 4 => array:3 [ "nombre" => "Anna" "apellidos" => "Balil" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] ] 5 => array:3 [ "nombre" => "Carles" "apellidos" => "Pericay" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 6 => array:3 [ "nombre" => "Juan José" "apellidos" => "López López" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 7 => array:3 [ "nombre" => "Joan" "apellidos" => "Brunet" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 8 => array:3 [ "nombre" => "Montse" "apellidos" => "Baiget" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 9 => array:3 [ "nombre" => "Carmen" "apellidos" => "Alonso" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:5 [ 0 => array:3 [ "entidad" => "Servicio de Oncología Médica. Hospital de la Santa Creu i Sant Pau. Barcelona. España" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Hematología. Hospital de la Santa Creu i Sant Pau. Barcelona. España" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Genética. Hospital de la Santa Creu i Sant Pau. Barcelona. España" "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Servicio de Radiodiagnóstico. Hospital de la Santa Creu i Sant Pau. Barcelona. España" "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] 4 => array:3 [ "entidad" => "Servicio de Oncología Médica. Hospital Arnau de Vilanova. Lleida. España" "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Dra. Judith Balmaña. Servicio Oncología Médica. Hospital Sant Pau. Sant Antoni M.a Claret, 167. 08025 Barcelona." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Description of a new tp53 gene germline mutation in a family with the li-fraumeni syndrome. genetic counselling to healthy mutation carriers" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2002-01-21" "fechaAceptado" => "2002-06-13" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec222718" "palabras" => array:3 [ 0 => "Li-Fraumeni" 1 => "Consejo genético" 2 => "Gen TP53" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec222717" "palabras" => array:3 [ 0 => "Li-Fraumeni" 1 => "Genetic counseling" 2 => "Gene TP53" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Fundamento</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El síndrome de Li-Fraumeni (SLF) es un trastorno familiar autosómico dominantecon predisposición a la aparición de sarcomas de partes blandas, osteosarcomas, cáncer demama en mujeres premenopáusicas, leucemia aguda, tumores adrenocorticales y del sistemanervioso central. En más de la mitad de las familias afectadas se identifican mutaciones en líneagerminal en el gen <span class="elsevierStyleItalic">TP</span>53.</p> <span class="elsevierStyleSectionTitle">Pacientes y método</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Se realizó el análisis de mutaciones del gen <span class="elsevierStyleItalic">TP</span>53 en línea germinal en 8familias con agregación de sarcomas infantiles, tumores cerebrales, neoplasia de mama en mujerespremenopáusicas y tumores renales. El estudio genético se realizó mediante la técnicaSSCP y secuenciación posterior.</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Siete familias reunían los criterios del síndrome de Li-Fraumeni <span class="elsevierStyleItalic">like</span> y una los criteriosclínicos clásicos. Se identificó la mutación C238S en el exón 7 del gen <span class="elsevierStyleItalic">TP</span>53 en línea germinalen la familia con criterios clásicos. Dicha mutación no ha sido descrita previamente.</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">La heterogeneidad clínica, la complejidad molecular y las implicaciones del asesoramientogenético de las familias con este síndrome hacen necesaria la elaboración de protocolosy su posterior evaluación. Debería plantearse un enfoque multidisciplinario coordinadodesde unidades de consejo genético en cáncer familiar.</p>" ] "en" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Background</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Li-Fraumeni syndrome is a dominantly inherited disorder characterized by earlyonsetbreast cancer, soft-tissue sarcomas and osteosarcomas, acute leukemia, adrenocorticalneoplasms and central nervous system tumors. Germline mutations in gene <span class="elsevierStyleItalic">TP</span>53 are identifiedin a percentage of affected families.</p> <span class="elsevierStyleSectionTitle">Patients and method</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Eight families with aggregation of childhood sarcomas, brain tumors, breastcancers in pre-menopausal women, and renal tumors were screened for <span class="elsevierStyleItalic">TP</span>53 germ-line mutations.SSCP and posterior direct sequencing were performed for genetic analysis. We also reporta previously undescribed family with the Li-Fraumeni syndrome carrying a germlinemutation.</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Seven families fulfilled so-called «Li-Fraumeni like» criteria and one fulfilled classicalcriteria. A new germ-line mutation in codon 238 at exon 7 of the gene <span class="elsevierStyleItalic">TP</span>53 was identified inthe family fulfilling classical criteria. This mutation has not been previously reported.</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">The clinical heterogeneity as well as the molecular complexity and consequencesof mutation analysis and genetic counseling make it necessary to develop protocols in this area.A multidisciplinary approach is needed; this approach should be coordinated by a Familial CancerGenetic Counseling Unit.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Referencias Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:18 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." 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Descripción de una nueva mutación germinal en el gen TP53 en una familia con síndrome de Li-Fraumeni. Asesoramiento clínico a los portadores sanos
Description of a new tp53 gene germline mutation in a family with the li-fraumeni syndrome. genetic counselling to healthy mutation carriers
Judith Balmañaa,
, Josep Nomdedéub, Orland Díezc, Josep Maria Sabatéd, Anna Balile, Carles Pericaya, Juan José López Lópeza, Joan Bruneta, Montse Baigetb, Carmen Alonsoa
Autor para correspondencia
jbalmana@hsp.santpau.es
Correspondencia: Dra. Judith Balmaña. Servicio Oncología Médica. Hospital Sant Pau. Sant Antoni M.a Claret, 167. 08025 Barcelona.
Correspondencia: Dra. Judith Balmaña. Servicio Oncología Médica. Hospital Sant Pau. Sant Antoni M.a Claret, 167. 08025 Barcelona.
a Servicio de Oncología Médica. Hospital de la Santa Creu i Sant Pau. Barcelona. España
b Servicio de Hematología. Hospital de la Santa Creu i Sant Pau. Barcelona. España
c Servicio de Genética. Hospital de la Santa Creu i Sant Pau. Barcelona. España
d Servicio de Radiodiagnóstico. Hospital de la Santa Creu i Sant Pau. Barcelona. España
e Servicio de Oncología Médica. Hospital Arnau de Vilanova. Lleida. España
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Descripción de una nueva mutación germinal en el gen TP53 en una familia con síndrome de Li-Fraumeni. Asesoramiento clínico a los portadores sanos
Judith Balmaña, Josep Nomdedéu, Orland Díez, Josep Maria Sabaté, Anna Balil, Carles Pericay, Juan José López López, Joan Brunet, Montse Baiget, Carmen Alonso
10.1016/S0025-7753(02)73474-XMed Clin. 2002;119:497-9