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Distinct Molecular Profiles of Sporadic Early-Onset Colorectal Cancer: A Population-Based Cohort and Systematic Review.
Hamilton, Ashleigh C; Bannon, Finian J; Dunne, Philip D; James, Jacqueline; McQuaid, Stephen; Gray, Ronan T; Salto-Tellez, Manuel; Cardwell, Chris R; Loughrey, Maurice B; Coleman, Helen G.
Afiliación
  • Hamilton AC; Centre for Public Health, Queen's University Belfast, Northern Ireland, UK.
  • Bannon FJ; Centre for Public Health, Queen's University Belfast, Northern Ireland, UK.
  • Dunne PD; Patrick G. Johnston Centre for Cancer Research, Queen's University Belfast, Northern Ireland, UK.
  • James J; CRUK Beatson Institute, Glasgow, UK.
  • McQuaid S; Patrick G. Johnston Centre for Cancer Research, Queen's University Belfast, Northern Ireland, UK.
  • Gray RT; Northern Ireland Biobank, Belfast, Northern Ireland, UK.
  • Salto-Tellez M; Precision Medicine Centre of Excellence, Queen's University Belfast, Northern Ireland, UK.
  • Cardwell CR; Patrick G. Johnston Centre for Cancer Research, Queen's University Belfast, Northern Ireland, UK.
  • Loughrey MB; Northern Ireland Biobank, Belfast, Northern Ireland, UK.
  • Coleman HG; Centre for Public Health, Queen's University Belfast, Northern Ireland, UK.
Gastro Hep Adv ; 2(3): 347-359, 2023.
Article en En | MEDLINE | ID: mdl-39132649
ABSTRACT
Background and

Aims:

The observed increase in the incidence of early-onset colorectal cancer (EOCRC) is being driven by sporadic cases, but the molecular characteristics of these tumors are not fully understood. Our objective was to investigate the prevalence of microsatellite instability (MSI) and selected mutations in sporadic EOCRC, and their association with survival.

Methods:

Firstly, we compared the prevalence of molecular characteristics and survival within a population-based cohort study of 652 stage II and III colon cancer patients in Northern Ireland, comparing sporadic early-onset (<50 years, n = 35) with older (60-69 years, n = 179) patients. Secondly, a systematic review for studies reporting the prevalence of MSI, mismatch repair deficiency (dMMR), or BRAF, KRAS, NRAS, PIK3CA, and TP53 mutations in sporadic EOCRC was conducted. A meta-analysis was performed to calculate pooled estimates of the prevalence of molecular features in sporadic EOCRC.

Results:

Firstly, within the cohort study, EOCRC patients did not have a significantly increased risk of colorectal cancer-specific death (adjusted hazard ratio 1.20; 95% confidence interval [CI] 0.61-2.39) compared with 60- to 69-year-olds. Second, 32 studies were included in the systematic review. The pooled analysis estimated a prevalence of 10% (95% CI 7%-14%) for MSI high/dMMR in sporadic EOCRC. BRAF and KRAS mutations had a prevalence of 1% (95% CI 0%-3%) and 32% (95% CI 23%-40%), respectively.

Conclusion:

The molecular characteristics of sporadic EOCRC differ from those of cancers in older adults, particularly regarding reduced prevalence of BRAF mutations. Ten percent of sporadic EOCRC display MSI high/dMMR. Further studies are needed to address survival in sporadic EOCRC cases and whether molecular profiles influence EOCRC outcomes in this patient group.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Gastro Hep Adv Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Gastro Hep Adv Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Países Bajos