Diagnosis of Lynch syndrome and strategies to distinguish Lynch-related tumors from sporadic MSI/dMMR tumors

J Leclerc, C Vermaut, MP Buisine - Cancers, 2021 - mdpi.com
Simple Summary Microsatellite instability (MSI) is a hallmark of Lynch syndrome (LS)-related
tumors but is not specific, as most of MSI/mismatch repair-deficient (dMMR) tumors are …

Validity of a two-antibody testing algorithm for mismatch repair deficiency testing in cancer; a systematic literature review and meta-analysis

KTS Aiyer, T Doeleman, NA Ryan, M Nielsen… - Modern …, 2022 - nature.com
Reflex mismatch repair immunohistochemistry (MMR IHC) testing for MLH1, PMS2, MSH2
and MSH6 is used to screen for Lynch syndrome. Recently MMR-deficiency (MMRd) has …

Mismatch repair and microsatellite instability testing for immune checkpoint inhibitor therapy: guideline from the College of American Pathologists in collaboration with …

AN Bartley, AM Mills, E Konnick… - … of pathology & …, 2022 - meridian.allenpress.com
Context.—The US Food and Drug Administration (FDA) approved immune checkpoint
inhibitor therapy for patients with advanced solid tumors that have DNA mismatch repair …

[HTML][HTML] The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome

EJ Crosbie, NAJ Ryan, MJ Arends, T Bosse, J Burn… - Genetics in …, 2019 - Elsevier
Purpose There are no internationally agreed upon clinical guidelines as to which women
with gynecological cancer would benefit from Lynch syndrome screening or how best to …

[HTML][HTML] Practical guidance for mismatch repair-deficiency testing in endometrial cancer

E Stelloo, AML Jansen, EM Osse, RA Nout… - Annals of …, 2017 - Elsevier
Background Mismatch repair (MMR)-deficiency analysis is increasingly recommended for all
endometrial cancers, as it identifies Lynch syndrome patients, and is emerging as a …

Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer

AM Mills, S Liou, JM Ford, JS Berek… - The American journal …, 2014 - journals.lww.com
Lynch syndrome (LS) is an autosomal dominant inherited disorder caused by germline
mutations in DNA mismatch repair (MMR) genes. Mutation carriers are at substantially …

DNA mismatch repair proteins: scientific update and practical guide

AC Bateman - Journal of clinical pathology, 2021 - jcp.bmj.com
DNA mismatch repair (MMR) proteins are essential for the recognition and correction of
sporadic genetic mutations that occur during DNA replication. Deficient MMR function …

BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome

CW Toon, MD Walsh, A Chou, D Capper… - The American journal …, 2013 - journals.lww.com
BRAFV600E mutation in microsatellite-unstable (MSI) colorectal carcinomas (CRCs)
virtually excludes Lynch syndrome (LS). In microsatellite-stable (MSS) CRCs it predicts poor …

[HTML][HTML] Two-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency

R Pearlman, M Markow, D Knight, W Chen, CA Arnold… - Modern Pathology, 2018 - Elsevier
Universal screening for Lynch syndrome in colorectal cancer is recommended, and
immunohistochemistry for the mismatch repair proteins is commonly used. To reduce cost …

Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers

C Egoavil, C Alenda, A Castillejo, A Paya, G Peiro… - PLoS one, 2013 - journals.plos.org
Background Lynch syndrome (LS) is a hereditary condition that increases the risk for
endometrial and other cancers. The identification of endometrial cancer (EC) patients with …