Microsatellite instability in colorectal cancer

JN Nojadeh, SB Sharif, E Sakhinia - EXCLI journal, 2018 - pmc.ncbi.nlm.nih.gov
Colorectal cancer (CRC) is a heterogeneous disease that is caused by the interaction of
genetic and environmental factors. Although it is one of the most common cancers …

Molecular genetics of colorectal cancer

J Bogaert, H Prenen - Annals of gastroenterology, 2014 - pmc.ncbi.nlm.nih.gov
Approximately 90% of colorectal cancer cases are sporadic without family history or genetic
predisposition, while in less than 10% a causative genetic event has been identified …

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 …

Clinical and molecular features of young-onset colorectal cancer

V Ballester, S Rashtak… - World journal of …, 2016 - pmc.ncbi.nlm.nih.gov
Colorectal cancer (CRC) is one of the leading causes of cancer related mortality worldwide.
Although young-onset CRC raises the possibility of a hereditary component, hereditary CRC …

[HTML][HTML] Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights

AS Aelvoet, F Buttitta, L Ricciardiello… - Best Practice & Research …, 2022 - Elsevier
Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are rare
inherited polyposis syndromes with a high colorectal cancer (CRC) risk. Therefore, frequent …

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

AK Win, JG Dowty, SP Cleary, H Kim, DD Buchanan… - Gastroenterology, 2014 - Elsevier
We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of
264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks …

The inherited and familial component of early-onset colorectal cancer

M Daca Alvarez, I Quintana, M Terradas, P Mur… - Cells, 2021 - mdpi.com
Early-onset colorectal cancer (EOCRC), defined as that diagnosed before the age of 50,
accounts for 10–12% of all new colorectal cancer (CRC) diagnoses. Epidemiological data …

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH

AK Win, JC Reece, JG Dowty… - … journal of cancer, 2016 - Wiley Online Library
Germline mutations in the DNA base excision repair gene MUTYH are known to increase a
carrier's risk of colorectal cancer. However, the risks of other (extracolonic) cancers for …

NCCN guidelines insights: genetic/familial high-risk assessment: colorectal, version 3.2017

S Gupta, D Provenzale, SE Regenbogen… - Journal of the National …, 2017 - jnccn.org
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provide
recommendations for the management of patients with high-risk syndromes associated with …

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

PS Robinson, LE Thomas, F Abascal, H Jung… - Nature …, 2022 - nature.com
Cellular DNA damage caused by reactive oxygen species is repaired by the base excision
repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic …