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 …
Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine
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 …
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 …
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
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] 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 …
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 …
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 …
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 …
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 …
gaining traction; however, the prognostic impact of an underlying hereditary etiology is …