Risk of cancer in family members of patients with Lynch-Like Syndrome

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  • dc.contributor.author Picó, María Dolores
  • dc.contributor.author Alvarez-Urturi, Ana Cristina
  • dc.contributor.author Jover, Rodrigo
  • dc.date.accessioned 2021-06-08T06:49:12Z
  • dc.date.available 2021-06-08T06:49:12Z
  • dc.date.issued 2020
  • dc.description.abstract 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.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Picó MD, Sánchez-Heras AB, Castillejo A, Giner-Calabuig M, Alustiza M, Sánchez A, et al. Risk of cancer in family members of patients with Lynch-Like Syndrome. Cancers (Basel). 2020 Aug 9; 12(8): 2225. DOI: 10.3390/cancers12082225
  • dc.identifier.doi http://dx.doi.org/10.3390/cancers12082225
  • dc.identifier.issn 2072-6694
  • dc.identifier.uri http://hdl.handle.net/10230/47787
  • dc.language.iso eng
  • dc.publisher MDPI
  • dc.rights Copyright © 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/).
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword Colorectal cancer
  • dc.subject.keyword Genetic
  • dc.subject.keyword Risk
  • dc.subject.keyword Surveillance
  • dc.title Risk of cancer in family members of patients with Lynch-Like Syndrome
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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