Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

Autor: Ana Beatriz Sánchez-Heras, Estela Dámaso, Adela Castillejo, Mercedes Robledo, Alexandre Teulé, Conxi Lázaro, Rosario Sánchez-Martínez, Ángel Zúñiga, Adrià López-Fernández, Judith Balmaña, Luis Robles, Teresa Ramon y Cajal, M. Isabel Castillejo, Raquel Perea Ibañez, Carmen Martínez Sevila, Andrea Sánchez-Mira, Inés Escandell, Luís Gómez, Pere Berbel, José Luis Soto

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)

Abstract Background Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurrent missense heter

Externí odkaz: https://doaj.org/article/070bf76381b143af84d1c37cc2907316

[Bladder paraganglioma: Report of two cases and a literature review.]

Autor: Francisco J, Pelegrín-Mateo, Elena, Seguí-Moya, Marian, Fernández-Cruz, Alejandro, García-Seguí, Ernesto, De Nova-Sánchez, Ana Beatriz, Sánchez-Heras

Publikováno v: Archivos espanoles de urologia. 74(4)

Description of two incidental cases of bladder paraganglioma in women and review of the published literature.A bibliographic search was carried out in Medline over the last 10 years according to the terms "urinary bladder" and "paraganglioma".Bladder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1cd2f39d658dd8ff2723757b3ca0de61
https://pubmed.ncbi.nlm.nih.gov/33942738

Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.

Autor: Cecilia Egoavil, Cristina Alenda, Adela Castillejo, Artemio Paya, Gloria Peiro, Ana-Beatriz Sánchez-Heras, Maria-Isabel Castillejo, Estefanía Rojas, Víctor-Manuel Barberá, Sonia Cigüenza, Jose-Antonio Lopez, Oscar Piñero, Maria-Jose Román, Juan-Carlos Martínez-Escoriza, Carla Guarinos, Lucia Perez-Carbonell, Francisco-Ignacio Aranda, Jose-Luis Soto

Publikováno v: PLoS ONE, Vol 8, Iss 11, p e79737 (2013)

Lynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC) patients with LS has the potential to influence life-saving interventions. We aimed to study the pr

Externí odkaz: https://doaj.org/article/6ee0afeaa8d24b9aba735b47838d7320

SEOM clinical guideline on hereditary colorectal cancer (2019)

Autor: I. Lorenzo-Lorenzo, José Luis Soto, R. Morales Chamorro, R. Serrano, T. Martín Gómez, Luis Robles, Enrique Lastra, Ana Beatriz Sánchez-Heras, M. C. Soriano Rodríguez, Carmen Guillén-Ponce

Publikováno v: CLINICAL & TRANSLATIONAL ONCOLOGY
r-FISABIO. Repositorio Institucional de Producción Científica
instname
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)

In the last 2 decades, clinical genetics on hereditary colorectal syndromes has shifted from just a molecular characterization of the different syndromes to the estimation of the individual risk of cancer and appropriate risk reduction strategies. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::404098cc984d3a3a54333687ad9381b6
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=7946

Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome

Autor: Oscar Murcia, Inmaculada Salces, Ariadna Sánchez, Gemma Llort, Adela Castillejo, Leticia Moreira, Teresa Ramón y Cajal, María Dolores Picó, Joaquín Cubiella, Ana Beatriz Sánchez-Heras, Francesc Balaguer, Laura Rivas, Catalina Garau, Adrià López-Fernández, Luis Bujanda, Cristina Alvarez-Urturi, Carmen Yagüe, Mar Giner-Calabuig, Maite Herraiz, Antoni Castells, Francisco Javier Lacueva, Pedro Zapater, Cristina Alenda, Marta Carrillo-Palau, Rodrigo Jover, Miren Alustiza, Maria Pellise, José-Luis Soto, María Jesús López, Alexandra Gisbert-Beamud

Publikováno v: RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Cancers
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
Cancers, Vol 12, Iss 2225, p 2225 (2020)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Volume 12
Issue 8
r-FISABIO. Repositorio Institucional de Producción Científica

Lynch syndrome (LS) is a common cause of hereditary colorectal cancer (CRC). Some CRC patients develop mismatch repair deficiency without germline pathogenic mutation, known as Lynch-like syndrome (LLS). We compared the risk of CRC in first-degree re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25288ae21fe741c8b119fb44a8a80bb3
https://doi.org/10.3390/cancers12082225