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 …

Molecular pathology of Lynch syndrome

G Cerretelli, A Ager, MJ Arends… - The Journal of …, 2020 - Wiley Online Library
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 …

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

M Dominguez-Valentin, JR Sampson, TT Seppälä… - Genetics in …, 2020 - nature.com
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 …

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 …

Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the clinical practice of hereditary colorectal cancer

N Tomita, H Ishida, K Tanakaya, T Yamaguchi… - International Journal of …, 2021 - Springer
Hereditary colorectal cancer (HCRC) accounts for< 5% of all colorectal cancer cases. Some
of the unique characteristics commonly encountered in HCRC cases include early age of …

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

AK Win, JG Dowty, JC Reece, G Lee… - The Lancet …, 2021 - thelancet.com
Background Existing clinical practice guidelines for carriers of pathogenic variants of DNA
mismatch repair genes (Lynch syndrome) are based on the mean age-specific cumulative …

[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 …

Recent advances in Lynch syndrome

LH Biller, S Syngal, MB Yurgelun - Familial cancer, 2019 - Springer
Lynch syndrome is one of the most common hereditary cancer predisposition syndromes
and is associated with increased risks of colorectal and endometrial cancer, as well as …

[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 …

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) …