Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer.

Autor: Nuria Seguí, Elisabet Guinó, Marta Pineda, Matilde Navarro, Fernando Bellido, Conxi Lázaro, Ignacio Blanco, Victor Moreno, Gabriel Capellá, Laura Valle

Publikováno v: PLoS ONE, Vol 9, Iss 2, p e86063 (2014)

Aberrant telomere length measured in blood has been associated with increased risk of several cancer types. In the field of hereditary non-polyposis colorectal cancer (CRC), and more particularly in Lynch syndrome, caused by germline mutations in the

Externí odkaz: https://doaj.org/article/a8515c67e76b44bb83aa678677b58009

Addition of intermittently scanned continuous glucose monitoring to standard care in a cohort of pregnant women with type 1 diabetes: effect on glycaemic control and pregnancy outcomes

Autor: Verónica Perea, Maria José Picón, Ana Megia, Maria Goya, Ana Maria Wägner, Begoña Vega, Nuria Seguí, Maria Dolores Montañez, Irene Vinagre

Publikováno v: Diabetologia. 65(8)

The aim of this study was to assess whether the addition of intermittently scanned continuous glucose monitoring (isCGM) to standard care (self-monitoring of blood glucose [SMBG] alone) improves glycaemic control and pregnancy outcomes in women with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fae7898d6d65b4465ba04e366096a2f9
https://pubmed.ncbi.nlm.nih.gov/35546211

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

Autor: Alberto Villanueva, Silvia Iglesias, Matilde Navarro, Miguel Angel Pujana, Trinidad Caldés, Conxi Lázaro, Ana Beatriz Sánchez-Heras, Ignacio Blanco, Nuria Seguí, Enrique Lastra, Elisabet Guinó, Rafael Valdés-Mas, Pilar Blay, Leonardo B. Mina, Tirso Pons, Daniel Rueda, Xose S. Puente, Miguel Urioste, Alfonso Valencia, Victor Moreno, Rebeca Sanz-Pamplona, Pilar Garre, Laura Valle, Fernando Bellido, Marta Pineda, José Luis Soto, Joan Brunet, Gabriel Capellá, Jordi Surrallés, Milagros Balbín, Mercedes Durán, August Vidal, Adriana Lopez-Doriga

Publikováno v: Scopus
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
GASTROENTEROLOGY
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Europe PubMed Central
Digital.CSIC. Repositorio Institucional del CSIC

Under a Creative Commons license.-- et al.
Identification of genes associated with hereditary cancers facilitates management of patients with family histories of cancer. We performed exome sequencing of DNA from 3 individuals from a family with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df4dd2365836593853c9e64837107720
http://hdl.handle.net/10651/34223

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

Autor: Conxi Lázaro, Joan Brunet, Cecilia Egoavil, Ángel Segura, Maria Rodriguez-Soler, Silvia Iglesias, Cristina Alenda, Miriam Juárez, Eva Hernández-Illán, Matilde Navarro, María Isabel Castillejo, Gabriel Capellá, Ignacio Blanco, Rodrigo Jover, Gemma Aiza, José Luis Soto, Adela Castillejo, Sara González, Xavier Sanjuan, Marta Pineda, Gardenia Vargas, María José Juan, Nuria Seguí, Laura Valle, Fernando Bellido, Carla Guarinos

Publikováno v: HUMAN MOLECULAR GENETICS
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Germline mutations in DNA polymerase E > (POLE) and delta (POLD1) have been recently identified in families with multiple colorectal adenomas and colorectal cancer (CRC). All reported cases carried POLE c.1270C > G (p.Leu424Val) or POLD1 c.1433G > A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ef6b8b4c160dc59e4355d25424a4383
https://fundanet.isabial.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3680

Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome

Autor: Elisabet Guinó, Conxi Lázaro, Matilde Navarro, Laura Valle, Fernando Bellido, Shantie Jagmohan-Changur, Gabriel Capellá, Hans F. A. Vasen, Marta Pineda, Nuria Seguí, Victor Moreno, Ignacio Blanco, Juul T. Wijnen

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 21(5), 511-516

Lynch syndrome (LS) is an inherited cancer-predisposing disorder caused by germline mutations in the mismatch repair (MMR) genes. The high variability in individual cancer risk observed among LS patients suggests the existence of modifying factors. I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097c17b8f44fbbf48b2f27e02a37c9b4
http://hdl.handle.net/1887/97692