Genetic counseling and surveillance focused on Lynch syndrome

JY Kim, JS Byeon - Journal of the anus, rectum and colon, 2019 - jstage.jst.go.jp
Lynch syndrome is a hereditary cancer syndrome caused by germline mutations in one of
several DNA mismatch repair genes. Lynch syndrome leads to an increased lifetime risk of …

Distinct clinical phenotype and genetic testing strategy for Lynch syndrome in China based on a large colorectal cancer cohort

L Dong, X Jin, W Wang, Q Ye, W Li… - … Journal of Cancer, 2020 - Wiley Online Library
Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) predisposition
syndrome. We performed a large‐scale study to assess a screening strategy for identifying …

A Canadian provincial screening program for Lynch syndrome

JK Stone, R Winter, D Khan… - Official journal of the …, 2023 - journals.lww.com
METHODS: We searched the provincial pathology database with “adenocarcinoma” in the
colorectal specimen pathology reports between March 2018 and December 2020. We cross …

Cost-effectiveness of active identification and subsequent colonoscopy surveillance of Lynch syndrome cases

EFP Peterse, SK Naber, C Daly, A Pollett… - Clinical …, 2020 - Elsevier
Background & Aims The province of Ontario, Canada is considering immunohistochemical
followed by cascade analyses of all patients who received a diagnosis of colorectal cancer …

Universal tumor screening for Lynch syndrome: Perceptions of Canadian pathologists and genetic counselors of barriers and facilitators

E Dicks, D Pullman, K Kao, A MacMillan… - Cancer …, 2019 - Wiley Online Library
Background People at risk of developing hereditary cancers associated with Lynch
Syndrome (LS) can be identified through universal screening of colorectal tumors. However …

Cytoplasmic MSH2 Related to Genomic Deletions in the MSH2/EPCAM Genes in Colorectal Cancer Patients With Suspected Lynch Syndrome

L Dong, S Zou, X Jin, H Lu, Y Zhang, L Guo… - Frontiers in …, 2021 - frontiersin.org
Background A large proportion of patients with Lynch syndrome (LS) have MSH2
abnormalities, but genotype-phenotype studies of MSH2 mutations in LS are still lacking …

Development of a comprehensive approach to adult hereditary cancer testing in Ontario

KA Bell, R Kim, M Aronson, B Gillies… - Journal of Medical …, 2023 - jmg.bmj.com
Background Genetic testing for hereditary cancer susceptibility has advanced over time due
to the discovery of new risk genes, improved technology and decreased cost. In the province …

Organizational readiness to implement population‐based screening and genetic service delivery for hereditary cancer prevention and control

S Knerr, KM West, FA Angelo - Journal of genetic counseling, 2020 - Wiley Online Library
Despite clinical guidelines, programs conducting population‐based screening and genetic
service delivery for hereditary cancer prevention and control are rare in practice. We …

When guidelines face reality—Lynch syndrome screening in the setting of public health system in a developing country

VN Kozak, EM de Souza Fonseca Ribeiro… - Journal of Community …, 2022 - Springer
Lynch syndrome (LS) is the most common cause of hereditary colorectal cancer (CRC);
however, it is still underrecognized and underdiagnosed. While international guidelines …

Tissue microarrey: a potential cost-effective approach for mismatch repair testing in colorectal cancer

S Farkash, N Schwartz, N Edison, S Greenberg… - BMC …, 2022 - Springer
Abstract Background Deficiencies in Mismatch Repair (MMR) proteins are one of the major
pathways in the development of colorectal cancer (CRC). MMR status evaluation is …