Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome
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Título: | Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome |
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Autor/es: | Picó, María Dolores | Sánchez-Heras, Ana Beatriz | Castillejo, Adela | Giner-Calabuig, Mar | Alustiza, Miren | Sánchez, Ariadna | Moreira, Leticia | Pellise, María | Castells, Antoni | Llort, Gemma | Yagüe, Carmen | Ramon y Cajal, Teresa | Gisbert-Beamud, Alexandra | Cubiella, Joaquín | Rivas, Laura | Herraiz, Maite | Garau, Catalina | Salces, Inmaculada | Carrillo-Palau, Marta | Bujanda, Luis | López-Fernández, Adriá | Alvarez-Urturi, Cristina | López, María Jesús | Alenda, Cristina | Zapater, Pedro | Lacueva, Javier | Balaguer, Francesc | Soto, José Luis | Murcia Pomares, Óscar | Jover, Rodrigo |
Grupo/s de investigación o GITE: | Biotecnología | Genética Humana y de Mamíferos (GHM) |
Centro, Departamento o Servicio: | Universidad de Alicante. Departamento de Biotecnología | Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología |
Palabras clave: | Colorectal cancer | Risk | Genetic | Surveillance |
Área/s de conocimiento: | Biología Celular | Genética |
Fecha de publicación: | 9-ago-2020 |
Editor: | MDPI |
Cita bibliográfica: | Picó MD, Sánchez-Heras AB, Castillejo A, Giner-Calabuig M, Alustiza M, Sánchez A, Moreira L, Pellise M, Castells A, Llort G, Yagüe C, Ramon y Cajal T, Gisbert-Beamud A, Cubiella J, Rivas L, Herraiz M, Garau C, Salces I, Carrillo-Palau M, Bujanda L, López-Fernández A, Alvarez-Urturi C, López MJ, Alenda C, Zapater P, Lacueva FJ, Balaguer F, Soto J-L, Murcia Ó, Jover R. Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome. Cancers. 2020; 12(8):2225. https://doi.org/10.3390/cancers12082225 |
Resumen: | 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 relatives (FDRs) in LLS and LS patients. LLS was diagnosed when tumors showed immunohistochemical loss of MSH2, MSH6, and PMS2; or loss of MLH1 with BRAF wild type; and/or no MLH1 methylation and absence of pathogenic mutation in these genes. CRC and other LS-related neoplasms were followed in patients diagnosed with LS and LLS and among their FDRs. Standardized incidence ratios (SIRs) were calculated for CRC and other neoplasms associated with LS among FDRs of LS and LLS patients. In total, 205 LS (1205 FDRs) and 131 LLS families (698 FDRs) had complete pedigrees. FDRs of patients with LLS had a high incidence of CRC (SIR, 2.08; 95% confidence interval (CI), 1.56–2.71), which was significantly lower than that in FDRs of patients with LS (SIR, 4.25; 95% CI, 3.67–4.90; p < 0.001). The risk of developing other neoplasms associated with LS also increased among FDR of LLS patients (SIR, 2.04; 95% CI, 1.44–2.80) but was lower than that among FDR of patients with LS (SIR, 5.01, 95% CI, 4.26–5.84; p < 0.001). FDRs with LLS have an increased risk of developing CRC as well as LS-related neoplasms, although this risk is lower than that of families with LS. Thus, their management should take into account this increased risk. |
Patrocinador/es: | This work was supported by the Instituto de Salud Carlos III (PI08/0726, INT-09/208, PI11/2630, INT-12-078, INT13-196, PI14/01386, PI17/01756), Fundación de Investigación Biomédica de la Comunidad Valenciana–Instituto de Investigación Sanitaria y Biomédica de Alicante Foundation (UGP-14-120, UGP-13-221, UGP-14-265), and the Asociación Española Contra el Cáncer (Fundación Científica GCB13131592CAST). Mar Giner-Calabuig received a pre-doctoral grant from Conselleria d’Educació de la Generalitat Valenciana (VALi+d. EXP ACIF/2010/018, ACIF/2016/002). Miren Alustiza received a pre-doctoral grant from Instituto de Investigación Sanitaria y Biomédica de Alicante ISABIAL. Oscar Murcia received a grant Rio-Hortega from Instituto de Salud Carlos III. Asociación para la Investigación en Gastroenterología de la Provincia de Alicante (AIGPA), a private association that promotes research in gastrointestinal diseases in Alicante, also supported the logistical aspects of the study. |
URI: | http://hdl.handle.net/10045/109735 |
ISSN: | 2072-6694 |
DOI: | 10.3390/cancers12082225 |
Idioma: | eng |
Tipo: | info:eu-repo/semantics/article |
Derechos: | © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
Revisión científica: | si |
Versión del editor: | https://doi.org/10.3390/cancers12082225 |
Aparece en las colecciones: | INV - GHM - Artículos de Revistas INV - GIDBT - Artículos de Revistas |
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