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Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome
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 dia...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466118/ https://www.ncbi.nlm.nih.gov/pubmed/32784934 http://dx.doi.org/10.3390/cancers12082225 |
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author | 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, Joaquin 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, Francisco Javier Balaguer, Francesc Soto, Jose-Luis Murcia, Óscar Jover, Rodrigo |
author_facet | 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, Joaquin 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, Francisco Javier Balaguer, Francesc Soto, Jose-Luis Murcia, Óscar Jover, Rodrigo |
author_sort | Picó, María Dolores |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7466118 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-74661182020-09-14 Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome 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, Joaquin 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, Francisco Javier Balaguer, Francesc Soto, Jose-Luis Murcia, Óscar Jover, Rodrigo Cancers (Basel) Article 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. MDPI 2020-08-09 /pmc/articles/PMC7466118/ /pubmed/32784934 http://dx.doi.org/10.3390/cancers12082225 Text en © 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/). |
spellingShingle | Article 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, Joaquin 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, Francisco Javier Balaguer, Francesc Soto, Jose-Luis Murcia, Óscar Jover, Rodrigo Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome |
title | Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome |
title_full | Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome |
title_fullStr | Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome |
title_full_unstemmed | Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome |
title_short | Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome |
title_sort | risk of cancer in family members of patients with lynch-like syndrome |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466118/ https://www.ncbi.nlm.nih.gov/pubmed/32784934 http://dx.doi.org/10.3390/cancers12082225 |
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