scholarly journals The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer

Cancers ◽  
2021 ◽  
Vol 13 (20) ◽  
pp. 5094
Author(s):  
Erik Frostberg ◽  
Annabeth Høgh Petersen ◽  
Anders Bojesen ◽  
Hans Bjarke Rahr ◽  
Jan Lindebjerg ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Advanced Disease ◽  
Young Patients ◽  
Germline Variants ◽  
Mmr Genes ◽  
Disease Characteristics ◽  
Colorectal Cancer Patients ◽  
Repair Genes ◽  
Generation Sequencing

Introduction: The prevalence of pathogenic or likely pathogenic germline variants (PGV) in colorectal cancer (CRC) in young patients is seen in approximately one in five patients, with the majority of cases having gene variants associated with Lynch syndrome (LS). The primary aim was to describe the prevalence of 18 genes, all associated with hereditary polyposis and CRC, in a nationwide population of young CRC (yCRC) patients, and outline disease characteristics in patients with or without germline variants. Methods: We screened 98 patients aged 18–40 with CRC diagnosed in 2010–2013 for variants in MSH2, MSH6, MLH1, PMS2, EPCAM, APC, MUTYH, SMAD4, BMPR1A, STK11, PTEN, POLE, POLD1, NTHL1, AXIN2, MSH3, GREM1 and RNF43 using Next Generation Sequencing. Comparisons between patients’ characteristics in patients with PGV, and patients without germline variants (NPGV) were analyzed. Results: PGV were detected in twenty-four patients (24.5%), and twenty-one patients (21.1%) had variants in the mismatch repair (MMR) genes associated with LS. Variants in the APC and MUTYH genes were detected in 1% and 4%, respectively. Patients with NPGV had more advanced disease with adverse histopathological features. Conclusion: PGV was detected in one in four yCRC patients, and one in five yCRC patients had disease causing variants in the mismatch repair genes associated with LS.

scholarly journals Mismatch repair genes status in sporadic Saudi colorectal cancer patients

BMC Genomics ◽  
2014 ◽  
Vol 15 (S2) ◽  
Author(s):  
Manar Ata ◽  
Ashraf Dallol ◽  
Jaudah Al-Maghrabi ◽  
Abdulrahmn Al-Sibiany ◽  
Mahmoud Al-Ahwal ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Mismatch Repair ◽  
Mismatch Repair Genes ◽  
Colorectal Cancer Patients ◽  
Repair Genes

Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients

2011 ◽  
Vol 39 (3) ◽  
pp. 2553-2560 ◽  
Author(s):  
Carla G. Rasuck ◽  
Sinara M. O. Leite ◽  
Flavia Komatsuzaki ◽  
Alessandro C. S. Ferreira ◽  
Vanessa C. Oliveira ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Cancer Patients ◽  
Mismatch Repair ◽  
Braf Mutation ◽  
Mismatch Repair Genes ◽  
Colorectal Cancer Patients ◽  
Repair Genes

Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

1996 ◽  
Vol 2 (2) ◽  
pp. 169-174 ◽  
Author(s):  
Bo Liu ◽  
Ramon Parsons ◽  
Nickolas Papadopoulos ◽  
Nicholas C. Nicolaides ◽  
Henry T. Lynch ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Mismatch Repair ◽  
Mismatch Repair Genes ◽  
Colorectal Cancer Patients ◽  
Repair Genes

scholarly journals Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?

Oncotarget ◽  
2015 ◽  
Vol 6 (36) ◽  
pp. 38737-38748 ◽  
Author(s):  
Elena Maccaroni ◽  
Raffaella Bracci ◽  
Riccardo Giampieri ◽  
Francesca Bianchi ◽  
Laura Belvederesi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Mismatch Repair ◽  
Prognostic Impact ◽  
Mismatch Repair Genes ◽  
Colorectal Cancer Patients ◽  
Repair Genes

Distribution of a Single Nucleotide Polymorphism of Insulin-Like Growth Factor-1 in Colorectal Cancer Patients and Its Association with Mucinous Adenocarcinoma

2010 ◽  
Vol 25 (4) ◽  
pp. 195-199 ◽  
Author(s):  
Jen-Kou Lin ◽  
Ming-Yin Shen ◽  
Tzu-Chen Lin ◽  
Yuan-Tzu Lan ◽  
Huann-Sheng Wang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Growth Factor ◽  
Mucinous Adenocarcinoma ◽  
Advanced Disease ◽  
Young Patients ◽  
Tumor Location ◽  
Clinicopathological Factors ◽  
Insulin Growth Factor ◽  
The Difference ◽  
Colorectal Cancer Patients

Purpose To analyze the difference in the distribution of an insulin growth factor-1 (IGF-1) polymorphism (-2995 C/A) between young and old colorectal cancer (CRC) patients. Methods Information from 950 CRC patients undergoing surgery at the Taipei Veterans General Hospital between 2000 and 2005 was collected. The IGF-1 polymorphism was analyzed in patients in extreme age ranges at the time of CRC onset (i.e., under the 20th and above the 80th percentiles, respectively). Associations between clinicopathological variables and the IGF-1 polymorphism were analyzed. Results Young CRC patients had a higher frequency of advanced disease (58.7%) and mucinous adenocarcinoma (20%) than old CRC patients. Among old CRC patients, the frequency of the AA genotype of IGF-1 was 12.7% (24/189), which was significantly higher than in young patients (4.2%). Other clinicopathological factors including tumor location, differentiation, lymphovascular invasion, and TNM stage were not associated with the AA genotype of IGF-1. Mucinous differentiation (but not the other clinicopathological factors) was significantly associated with the CA/AA genotype of IGF-1 (39/195). Conclusions Older patients had a higher frequency of the AA genotype of IGF-1(-2995 C/A), while younger patients more often had advanced disease and mucinous adenocarcinoma.

scholarly journals Interhospital referral of colorectal cancer patients: a Dutch population-based study

2021 ◽  
Author(s):  
A. K. Warps ◽  
◽  
M. P. M. de Neree tot Babberich ◽  
E. Dekker ◽  
M. W. J. M. Wouters ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Waiting Time ◽  
Secondary Care ◽  
Advanced Disease ◽  
Waiting Times ◽  
Tertiary Care ◽  
Disease Stage ◽  
Colorectal Cancer Patients ◽  
Tertiary Care Hospitals

Abstract Purpose Interhospital referral is a consequence of centralization of complex oncological care but might negatively impact waiting time, a quality indicator in the Netherlands. This study aims to evaluate characteristics and waiting times of patients with primary colorectal cancer who are referred between hospitals. Methods Data were extracted from the Dutch ColoRectal Audit (2015-2019). Waiting time between first tumor-positive biopsy until first treatment was compared between subgroups stratified for referral status, disease stage, and type of hospital. Results In total, 46,561 patients were included. Patients treated for colon or rectal cancer in secondary care hospitals were referred in 12.2% and 14.7%, respectively. In tertiary care hospitals, corresponding referral rates were 43.8% and 66.4%. Referred patients in tertiary care hospitals were younger, but had a more advanced disease stage, and underwent more often multivisceral resection and simultaneous metastasectomy than non-referred patients in secondary care hospitals (p<0.001). Referred patients were more often treated within national quality standards for waiting time compared to non-referred patients (p<0.001). For referred patients, longer waiting times prior to MDT were observed compared to non-referred patients within each hospital type, although most time was spent post-MDT. Conclusion A large proportion of colorectal cancer patients that are treated in tertiary care hospitals are referred from another hospital but mostly treated within standards for waiting time. These patients are younger but often have a more advanced disease. This suggests that these patients are willing to travel more but also reflects successful centralization of complex oncological patients in the Netherlands.

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