scholarly journals The Role of Modifier Genes in Lynch Syndrome

10.5772/28021 ◽  
2012 ◽  
Author(s):  
Rodney J. ◽  
Stuart Reeves ◽  
Bente Talseth-Palmer
Keyword(s):  
Lynch Syndrome ◽  
Modifier Genes

scholarly journals Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers

2011 ◽  
Vol 19 (8) ◽  
pp. 887-892 ◽  
Author(s):  
Solene Houlle ◽  
Françoise Charbonnier ◽  
Estelle Houivet ◽  
Julie Tinat ◽  
Marie-Pierre Buisine ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Modifier Genes ◽  
Mutation Carriers

Role of Prophylactic Colectomy in Lynch Syndrome

2003 ◽  
Vol 3 (2) ◽  
pp. 99-101 ◽  
Author(s):  
Henry T. Lynch ◽  
Jane F. Lynch ◽  
Robert Fitzgibbons
Keyword(s):  
Lynch Syndrome ◽  
Prophylactic Colectomy

Update on the role of chromoendoscopy in colonoscopic surveillance of patients with Lynch syndrome

2018 ◽  
Vol 30 (10) ◽  
pp. 1116-1124
Author(s):  
Alouisa J.P. van de Wetering ◽  
Roel M.M. Bogie ◽  
Assi C.O.G. Cabbolet ◽  
Bjorn Winkens ◽  
Ad A.M. Masclee ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Colonoscopic Surveillance

scholarly journals Role of microsatellite instability-low as a diagnostic biomarker of Lynch syndrome in colorectal cancer

2014 ◽  
Vol 207 (10-12) ◽  
pp. 495-502 ◽  
Author(s):  
Eduardo Vilar ◽  
Maureen E. Mork ◽  
Amanda Cuddy ◽  
Ester Borras ◽  
Sarah A. Bannon ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Microsatellite Instability ◽  
Diagnostic Biomarker

Abstract 4158: Dissecting the role of zygosity and lineage in Lynch Syndrome-associated microsatellite Instability

2019 ◽  
Author(s):  
Preethi Srinivasan ◽  
Chaitanya Bandlamudi ◽  
Jinru Shia ◽  
Alicia S. Latham ◽  
Philip Jonsson ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Microsatellite Instability

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome

2020 ◽  
Vol 57 (7) ◽  
pp. 487-499
Author(s):  
Qing Wang ◽  
Julie Leclerc ◽  
Gaëlle Bougeard ◽  
Sylviane Olschwang ◽  
Stéphanie Vasseur ◽  
...  
Keyword(s):  
Family History ◽  
Lynch Syndrome ◽  
Founder Effect ◽  
Predictive Value ◽  
Haplotype Analysis ◽  
Genomic Rearrangements ◽  
Colorectal Cancers ◽  
Amsterdam Criteria ◽  
Insight Into

BackgroundHeterozygous germline PMS2 variants are responsible for about 5% of Lynch syndrome (LS) but their prevalence is most likely underestimated because of complicated routine screening caused by highly homologous pseudogenes. Consequently, there is limited knowledge on the implication of the PMS2 gene in LS.MethodsWe report 200 PMS2 heterozygous variants identified in 195 French patients, including 112 unique variants classified as class-3/4/5.ResultsGenomic rearrangements account for 18% of alterations. The c.137G>T variant was observed in 18% of the patients, but a founder effect could not be clearly identified by haplotype analysis. Among class-4/5 variant carriers, the median age at first tumour onset was 49 years with a predominance of colorectal (80%) and endometrial (8.1%) cancers. Seven patients developed colorectal cancers before the age of 30 with the youngest at the age of 21. Only 6.2% of class-4/5 carriers had a family history fulfilling Amsterdam I/II criteria among patients with available data. Tumours from PMS2 variant carriers exhibited microsatellite instability (96%) and loss of PMS2 expression (76%), confirming the high predictive value of somatic analysis.ConclusionOur results provide further insight into the role of the PMS2 gene in LS. While PMS2 variants are mostly detected in families not fulfilling Amsterdam criteria, which supports their lower penetrance, they can nevertheless cause early-onset cancers, highlighting the variability of their penetrance.

scholarly journals Biochemical characterization ofMLH3missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome

2009 ◽  
Vol 48 (4) ◽  
pp. 340-350 ◽  
Author(s):  
Jianghua Ou ◽  
Merete Rasmussen ◽  
Helga Westers ◽  
Sofie D. Andersen ◽  
Paul O. Jager ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Biochemical Characterization
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