European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender
TT Seppälä, A Latchford, I Negoi… - British Journal of …, 2021 - academic.oup.com
Background Lynch syndrome is the most common genetic predisposition for hereditary
cancer but remains underdiagnosed. Large prospective observational studies have recently …
cancer but remains underdiagnosed. Large prospective observational studies have recently …
Molecular pathology of Lynch syndrome
Lynch syndrome (LS) is characterised by predisposition to colorectal, endometrial, and other
cancers and is caused by inherited pathogenic variants affecting the DNA mismatch repair …
cancers and is caused by inherited pathogenic variants affecting the DNA mismatch repair …
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch
syndrome and result in different but imprecisely known cancer risks. This study aimed to …
syndrome and result in different but imprecisely known cancer risks. This study aimed to …
Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and …
KJ Monahan, N Bradshaw, S Dolwani, B Desouza… - Gut, 2020 - gut.bmj.com
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost
30% of the population in the UK have a family history of CRC. The quantification of an …
30% of the population in the UK have a family history of CRC. The quantification of an …
[HTML][HTML] Recurrent frameshift neoantigen vaccine elicits protective immunity with reduced tumor burden and improved overall survival in a Lynch syndrome mouse …
J Gebert, O Gelincik, M Oezcan-Wahlbrink, JD Marshall… - Gastroenterology, 2021 - Elsevier
Background & Aims DNA mismatch repair deficiency drives microsatellite instability (MSI).
Cells with MSI accumulate numerous frameshift mutations. Frameshift mutations affecting …
Cells with MSI accumulate numerous frameshift mutations. Frameshift mutations affecting …
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report …
Summary Background The Prospective Lynch Syndrome Database (PLSD) collates
information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who …
information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who …
Three molecular pathways model colorectal carcinogenesis in L ynch syndrome
A Ahadova, R Gallon, J Gebert… - … journal of cancer, 2018 - Wiley Online Library
Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes.
MMR deficiency has long been regarded as a secondary event in the pathogenesis of Lynch …
MMR deficiency has long been regarded as a secondary event in the pathogenesis of Lynch …
No difference in colorectal cancer incidence or stage at detection by colonoscopy among 3 countries with different Lynch syndrome surveillance policies
Background & Aims Patients with Lynch syndrome are at high risk for developing colorectal
cancer (CRC). Regular colonoscopic surveillance is recommended, but there is no …
cancer (CRC). Regular colonoscopic surveillance is recommended, but there is no …
[HTML][HTML] Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline
ME van Leerdam, VH Roos, JE van Hooft… - …, 2019 - thieme-connect.com
ESGE recommends that individuals with Lynch syndrome should be followed in dedicated
units that practice monitoring of compliance and endoscopic performance measures. Strong …
units that practice monitoring of compliance and endoscopic performance measures. Strong …
The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance
A Ahadova, TT Seppälä, C Engel… - … journal of cancer, 2021 - Wiley Online Library
Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes,
are at increased risk of developing malignancies, in particular colorectal cancer (CRC) …
are at increased risk of developing malignancies, in particular colorectal cancer (CRC) …