Open Access

Stratification of patients with colorectal cancer without the recorded family history

  • Authors:
    • Ivana Kašubová
    • Michal Kalman
    • Karin Jašek
    • Tatiana Burjanivová
    • Bibiana Malicherová
    • Andrea Vaňochová
    • Sandra Meršaková
    • Zora Lasabová
    • Lukáš Plank
  • View Affiliations

  • Published online on: February 6, 2019     https://doi.org/10.3892/ol.2019.10018
  • Pages: 3649-3656
  • Copyright: © Kašubová et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Colorectal cancer (CRC) is a multifactorial disease and one of the most malignant tumours. In addition to the sporadic form, familial occurrences, particularly hereditary non‑polyposis CRC‑Lynch syndrome (LS)‑are often observed. LS is caused by a germline mutation in mismatch repair (MMR) genes, whose task it is to correct errors in the DNA structure that result from its replication. The aim of the present study was to stratify CRC patients using molecular diagnostics and next generation sequencing, according to the chosen criteria [positive for microsatellite instability (MSI) and negative for a BRAF mutation and MutL homolog 1 (MLH1) methylation], and subsequently to detect pathological germline mutations in MMR genes in Slovak patients. To exclude patients with MSI from further testing, the present study detected the BRAF V600E mutation and examined MLH1 methylation status. From the 300 CRC patients, 37 cases with MSI were identified. In the MSI‑positive samples, 13 cases of BRAF V600E mutation were recorded. In 24 BRAF‑negative patients, 11 cases of epigenetic methylation of MLH1 and 12 cases without MLH1 methylation suspected for LS were detected, and it was not possible to analyse the methylation phenotype of 1 sample. Thus, the present study reports the novel deletion of four nucleotides, 1627_1630del AAAG (Glu544Lysfs*26) in MSH6, probably associated with LS. A second case with a nonsense mutation in MSH was also detected, namely MMR_c.1030C>T (p.Q344X).
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April-2019
Volume 17 Issue 4

Print ISSN: 1792-1074
Online ISSN:1792-1082

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Spandidos Publications style
Kašubová I, Kalman M, Jašek K, Burjanivová T, Malicherová B, Vaňochová A, Meršaková S, Lasabová Z and Plank L: Stratification of patients with colorectal cancer without the recorded family history. Oncol Lett 17: 3649-3656, 2019.
APA
Kašubová, I., Kalman, M., Jašek, K., Burjanivová, T., Malicherová, B., Vaňochová, A. ... Plank, L. (2019). Stratification of patients with colorectal cancer without the recorded family history. Oncology Letters, 17, 3649-3656. https://doi.org/10.3892/ol.2019.10018
MLA
Kašubová, I., Kalman, M., Jašek, K., Burjanivová, T., Malicherová, B., Vaňochová, A., Meršaková, S., Lasabová, Z., Plank, L."Stratification of patients with colorectal cancer without the recorded family history". Oncology Letters 17.4 (2019): 3649-3656.
Chicago
Kašubová, I., Kalman, M., Jašek, K., Burjanivová, T., Malicherová, B., Vaňochová, A., Meršaková, S., Lasabová, Z., Plank, L."Stratification of patients with colorectal cancer without the recorded family history". Oncology Letters 17, no. 4 (2019): 3649-3656. https://doi.org/10.3892/ol.2019.10018