Young-onset colorectal cancer

MCW Spaander, AG Zauber, S Syngal… - Nature reviews Disease …, 2023‏ - nature.com
In the past decades the incidence of colorectal cancer (CRC) in people under the age of 50
years has increased, which is referred to as early-onset CRC or young-onset CRC (YO …

Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017‏ - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

[HTML][HTML] Delphi initiative for early-onset colorectal cancer (DIRECt) international management guidelines

GM Cavestro, A Mannucci, F Balaguer… - Clinical …, 2023‏ - Elsevier
Background & Aims Patients with early-onset colorectal cancer (eoCRC) are managed
according to guidelines that are not age-specific. A multidisciplinary international group …

Prevalence and penetrance of major genes and polygenes for colorectal cancer

AK Win, MA Jenkins, JG Dowty… - Cancer Epidemiology …, 2017‏ - aacrjournals.org
Background: Although high-risk mutations in identified major susceptibility genes (DNA
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal …

[HTML][HTML] Update on genetic predisposition to colorectal cancer and polyposis

L Valle, RM de Voer, Y Goldberg, W Sjursen… - Molecular aspects of …, 2019‏ - Elsevier
The present article summarizes recent developments in the characterization of genetic
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …

Germline mutations predisposing to melanoma

A Toussi, N Mans, J Welborn… - Journal of cutaneous …, 2020‏ - Wiley Online Library
Nearly 15% of melanomas occur in patients with a family history and a subset of these
patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations …

Recent progress in Lynch syndrome and other familial colorectal cancer syndromes

PM Boland, MB Yurgelun… - CA: a cancer journal for …, 2018‏ - Wiley Online Library
The current understanding of familial colorectal cancer was limited to descriptions of affected
pedigrees until the early 1990s. A series of landscape‐altering discoveries revealed that …

Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype

JE Grolleman, RM De Voer, FA Elsayed, M Nielsen… - Cancer cell, 2019‏ - cell.com
Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis
and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals …

Long telomeres and cancer risk: the price of cellular immortality

EJ McNally, PJ Luncsford, M Armanios - The Journal of clinical …, 2019‏ - jci.org
The distribution of telomere length in humans is broad, but it has finite upper and lower
boundaries. Growing evidence shows that there are disease processes that are caused by …