Mismatch repair deficiency: The what, how and why it is important

MC Olave, RP Graham - Genes, Chromosomes and Cancer, 2022 - Wiley Online Library
The mismatch repair system is a major pathway that functions in the maintenance of
genomic integrity. It is involved in mitotic and meiotic recombination, apoptosis …

Microsatellite instability: diagnosis, heterogeneity, discordance, and clinical impact in colorectal cancer

C Evrard, G Tachon, V Randrian, L Karayan-Tapon… - Cancers, 2019 - mdpi.com
Tumor DNA mismatch repair (MMR) deficiency testing is important to the identification of
Lynch syndrome and decision making regarding adjuvant chemotherapy in stage II …

[HTML][HTML] Lynch syndrome genetics and clinical implications

P Peltomäki, M Nyström, JP Mecklin, TT Seppälä - Gastroenterology, 2023 - Elsevier
Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in humans
and accounts for some 3% of unselected patients with colorectal or endometrial cancer and …

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 …

Prospective statewide study of universal screening for hereditary colorectal cancer: the Ohio colorectal cancer prevention initiative

R Pearlman, WL Frankel, BJ Swanson… - JCO Precision …, 2021 - ascopubs.org
PURPOSE Hereditary cancer syndromes infer high cancer risks and require intensive
surveillance. Identification of high-risk individuals among patients with colorectal cancer …

Use of family history and genetic testing to determine risk of colorectal cancer

F Kastrinos, NJ Samadder, RW Burt - Gastroenterology, 2020 - Elsevier
Approximately 35% of patients with colorectal cancer (CRC) have a family history of the
disease attributed to genetic factors, common exposures, or both. Some families with a …

Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?

F Rebuzzi, P Ulivi, G Tedaldi - International Journal of Molecular Sciences, 2023 - mdpi.com
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of
the key risk factors in the development of this malignancy. Lynch syndrome and familial …

How should we test for Lynch syndrome? A review of current guidelines and future strategies

R Gallon, P Gawthorpe, RL Phelps, C Hayes… - Cancers, 2021 - mdpi.com
Simple Summary Carriers of Lynch syndrome (LS) have an increased risk for several types
of tumour, in particular bowel and uterine cancers. LS is caused by inheritance of a faulty …

Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or …

B Heald, H Hampel, J Church, B Dudley, MJ Hall… - Familial cancer, 2020 - Springer
Multigene panel tests for hereditary cancer syndromes are increasingly utilized in the care of
colorectal cancer (CRC) and polyposis patients. However, widespread availability of panels …

Updates in the field of hereditary nonpolyposis colorectal cancer

P Peltomäki, A Olkinuora… - Expert review of …, 2020 - Taylor & Francis
Introduction Up to one third of colorectal cancers show familial clustering and 5% are
hereditary single-gene disorders. Hereditary non-polyposis colorectal cancer comprises …