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 …

Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine

L Valle, E Vilar, SV Tavtigian… - The Journal of …, 2019 - Wiley Online Library
This article reviews genes and syndromes associated with predisposition to colorectal
cancer (CRC), with an overview of gene variant classification. We include updates on the …

Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline

PA Konstantinopoulos, B Norquist… - Journal of Clinical …, 2020 - ascopubs.org
PURPOSE To provide recommendations on genetic and tumor testing for women diagnosed
with epithelial ovarian cancer based on available evidence and expert consensus …

[HTML][HTML] 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 …

[HTML][HTML] Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up

N Stjepanovic, L Moreira, F Carneiro… - Annals of …, 2019 - annalsofoncology.org
Knowledge of genetic susceptibility to gastrointestinal cancers is constantly evolving with
identification of new genes. Similarly, a better understanding of the genotype/phenotype …

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 …

[HTML][HTML] Gynecological cancers caused by deficient mismatch repair and microsatellite instability

M Deshpande, PA Romanski, Z Rosenwaks, J Gerhardt - Cancers, 2020 - mdpi.com
Simple Summary Microsatellite instability (MSI) has been detected in multiple types of
gynecologic cancers. MSI is linked to mutations in mismatch repair (MMR) genes that cause …

Prevalence and prognosis of lynch syndrome and sporadic mismatch repair deficiency in endometrial cancer

CCB Post, E Stelloo, VT Smit, D Ruano… - JNCI: Journal of the …, 2021 - academic.oup.com
Background Standard screening of endometrial cancer (EC) for Lynch syndrome (LS) is
gaining traction; however, the prognostic impact of an underlying hereditary etiology is …