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Ubicació

Edifici B

Planta 7

Unidad Consejo Genético en Cáncer Hereditario

Avenida Fernando Abril Martorell, nº 106, Valencia
Centralita: 34 961 244 000

Horario de información: 10.00 a 13.00 horas

Oficinas: 701-702

mail: ucg_lafe@gva.es

T'interessa

Unitat Consell Genètic en Càncer Hereditari

Projectes d'Investigació

Línies d'Investigació Internacional de CGCH

Articles d'àmbit Internacional

- CASP8 D302H ,polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. Palanca S, Esteban cardeñosa E, Barragán González E, de Juan Jiménez I, Chirivella I, Segura A,guillen Ponce C, Martíenz de Dueñas E, Montalar Salcedo J, Castel Sánchez V, Bolufer Gilabert P. On behalf of the Group for Assessment for Hereditary Cancer of Valencian Community. Breast Cancer Res Treat,2010 jan; 119 (1):87-93.
- Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome. Castillejo A, Guarinos G, Martinez-Canto A, Manuel Barbera V, Egoavil C, Castillejo MI, Perez Carbonell L, Sánchez Heras B, Segura A et al. BMC Medical Genetics 2011,12:12.
- Novel Mutations in MEN1, CDKN1b and AIP genes in patients with multiple endocrine neoplasia type 1 Syndrome in Spain. Belar O, De la Hoz C, Pérez Nanclares G, Castaño L, Gaztambide S and spanish MEN1 group (Angel Segura as a member). Clinical Endocrinology 2011, octubre 2011. published online.
- Low penetrance alleles as risk modifiers in familial and sporadic breast cancer.Esteban Cardeñosa E, de Juan Jiménez I, Palanca Suela S, Chirivella González I, Segura Huerta A, Santaballa Beltran A, Casals El Busto M, BarragánGonzález E, Fuster Lluch O, Bermúdez Edo J, Bolufer Gilabert P.Fam Cancer. 2012 Dec;11(4):629-36. DOI: 10.1007/s10689-012-9563-1.
- MicroRNA signatures in hereditary breast cancer. Murria Estal R, Palanca Suela S, de Juan Jiménez I, Egoavil Rojas C, García-Casado Z, Juan Fita MJ, Sánchez Heras AB, Segura Huerta A, Chirivella González I, Sánchez- Izquierdo D, Llop García M, Barragán González E, Bolufer Gilabert P. Breast Cancer Res Treat. 2013 Nov;142(1):19-30. PMID: 24129975
- Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family pheno-types with mutation prevalence. de Juan Jiménez I, García Casado Z, Palanca Suela S, Esteban Cardeñosa E, López Guerrero JA, Segura Huerta Á, Chirivella González I, Sánchez Heras AB, Juan Fita MJ, Tena García I, Guillen Ponce C, Martínez de Dueñas E, Romero Noguera I, Salas Trejo D, Goicoechea Sáez M, Bolufer Gilabert P. Fam Cancer. 2013 Dec;12(4):767-77. PMID:23479189
- Evaluation after five years of the cancer genetic counselling programme of Valencian Community (Eastern Spain).Cuevas-Cuerda D, Salas-Trejo D, Angel Segura as a member of the Group for Assessment for Hereditary Cancer of Valencian Community. Fam Cancer. 2014 PMID: 24242329
- Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. Adela Castillejo, Gardenia Vargas, María Isabel Castillejo, Matilde Navarro, Víctor Manuel Barberá, Sara González, Eva Hernández-Illán, Joan Brunet, Teresa Ramón y Cajal, Judith Balmaña, Silvestre Oltra, Silvia Iglesias, Angela Velasco, Ares Solanes, Olga Campos, Ana Beatriz Sánchez Heras, Javier Gallego, Estela Carrasco, Dolors González Juan, Angel Segura, Isabel Chirivella, María Jose Juan, Isabel Tena, Conxi Lázaro, Ignacio Blanco, Marta Pineda,Gabriel Capella, Jose Luis Soto. European Journal of Cancer 50 (2014) 2241–2250
- New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Laura Valle, Eva Hernández-Illán, Fernando Bellido, Gemma Aiza, Adela Castillejo, María-Isabel Castillejo, Matilde Navarro, Nuria Seguí, Gardenia Vargas, Carla Guarinos, Miriam Juarez, Xavier Sanjuán, Silvia Iglesias, Cristina Alenda, Cecilia Egoavil, Angel Segura, María-Jose Juan, María Rodriguez-Soler, Joan Brunet, Sara González,Rodrigo Jover, Conxi Lázaro, Gabriel Capella, Marta Pineda, José Luís Soto and Ignacio Blanco. Human Molecular Genetics, 2014 1–7.
- Methylation of tumor suppressor genes is related with copy number aberrations in breast cancer : Rosa Murria1, Sarai Palanca1, Inmaculada de Juan, Cecilia Egoavil, Cristina Alenda2, Zaida García-Casado, María J Juan, Ana B Sánchez5, Ana Santaballa, Isabel Chirivella, Ángel Segura, David, Hervás, Marta Llop1, Eva Barragán1, Pascual Bolufer. Am J Cancer Res 2015;5(1):375-385 www.ajcr.us /ISSN:2156-6976/ajcr0002578
- BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study Inmaculada de Juan, Sarai Palanca, Asunción Domenech, Lidia Feliubadaló, Ángel Segura, Ana Osorio, Isabel Chirivella, Miguel de la Hoya, Ana Beatriz Sánchez, Mar Infante, Isabel Tena, Orland Díez, Zaida Garcia-Casado, Ana Vega, Àlex Teulé, Alicia Barroso, PedroPérez, Mercedes Durán, Estela Carrasco, Mª José Juan-Fita, Rosa Murria, Marta Llop, Eva Barragan, Ángel Izquierdo, Javier Benítez, Trinidad Caldés, Dolores Salas, Pascual Bolufer. Familial Cancer (2015) 14: 505-513.
- Recommendations for somatic and germline genetic testing of single pheochromcytoma anda paraganglioma based on finfidngs from a serie of 329 patients. Maria Currás, Angel Segura et al. J MED Genet 2015; 52:647-656.
- Characterization of a novel POLD1 missense founder mutation in a Spanish population. Ferrer-Avargues R1, Díez-Obrero V, Martín-Tomás E, Hernández-Illán E, Castillejo MI1, Codoñer-Alejos A, Barberá VM, Sánchez- Heras AB, Segura Á, Juan MJ, Tena I, Castillejo A, Soto JL,. J Gene Med. Apr 2017
- Palanca S, Esteban E, Barragán E, Oltra S, de Juan I, Chirivella I, Segura A, Guillén C, Martínez de Dueñas E, Bolufer P. Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family. Breast Cancer Res Treat. 2008 Nov;112(1):63-7. Epub 2007 Dec 1.
- Esteban E , Bolufer P , Palanca S, Oltra S, Barragán E, Velasco E, Chirivella I, Segura A, Guillén C, Martínez de Dueñas E,. Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain. Breast Cancer Res Treat. 2008 Nov;112(1):69-73. Epub 2007 Dec 1
- Palanca S, Esteban E, Barragán E, Oltra S, de Juan I, Chirivella I, Segura A, Guillén C, Martínez de Dueñas E, Bolufer P. Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family. Breast Cancer Res Treat. 2008 Nov;112(1):63-7. Epub 2007 Dec 1.
- Esteban E , Bolufer P , Palanca S, Oltra S, Barragán E, Velasco E, Chirivella I, Segura A, Guillén C, Martínez de Dueñas E,. Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain. Breast Cancer Res Treat. 2008 Nov;112(1):69-73. Epub 2007 Dec 1
- Palanca Suela S, Esteban Cardeñosa E, Barragán González E, de Juan Jiménez I, Chirivella González I, Segura Huerta A, Guillén Ponce C, Martínez de Dueñas E, Montalar Salcedo J, Castel Sánchez V, Bolufer Gilabert P on behalf of the Group for Assessment of Hereditary Cancer of Valencia Community.CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. Breast Cancer Res Treat. 2010 Jan;119(1):87-93. Epub 2009 Feb.
- EPCAM germ line deletions as causes of Lynch syndrome in Spanish patients.Guarinos C, Castillejo A, Barbera VM, Carbonell L, Sanchez-Heras AB,Segura A, Guillen-Ponce C, Martinez-Canto A, Castillejo MI, Egoavil C, Jover R, Paya A, Alenda C, Soto JL. Journal Molecular Diagnosis. 2010. (IF 2009: 3.413. Pathology: Q1)
- Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population. Eva Esteban Cardeñosa,Pascual Bolufer Gilabert ,Inmaculada de Juan Jiménez, Sarai Palanca Suela, Eva Barragán González, Isabel Chirivella González, Angel Segura Huerta,Carmen Guillén Ponce, Eduardo Martínez de Dueñas. Breast Cancer Res Treta. 2010 may, 121 (1): 257-260.
- Relationship of BRCA1 and BRCA2 mutations with cancer burden in the family and tumor incidence. Eva Esteban Cardeñosa,Pascual Bolufer Gilabert,Inmaculada de Juan Jiménez,Sarai Palanca Suela,Eva Barragán González,Virginia González Anguix ,Enrique Lerma Alejos, Isabel Chirivella González, Angel Segura Huerta, Carmen Guillén Ponce, Eduardo Martínez de Dueñas, Dolores Cuevas Cuerda, Dolores Salas Trejo. On behalf of the Group for Assessment for Hereditary Cancer of Valencian Community. Familial Cancer DOI: 10.1007/s10689-010-9327-8