Role of Prophylactic Colectomy in Lynch Syndrome

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

2014 ◽  
Vol 207 (10-12) ◽  
pp. 495-502 ◽  
Author(s):  
Eduardo Vilar ◽  
Maureen E. Mork ◽  
Amanda Cuddy ◽  
Ester Borras ◽  
Sarah A. Bannon ◽  
...  

2019 ◽  
Author(s):  
Preethi Srinivasan ◽  
Chaitanya Bandlamudi ◽  
Jinru Shia ◽  
Alicia S. Latham ◽  
Philip Jonsson ◽  
...  

2020 ◽  
Vol 57 (7) ◽  
pp. 487-499
Author(s):  
Qing Wang ◽  
Julie Leclerc ◽  
Gaëlle Bougeard ◽  
Sylviane Olschwang ◽  
Stéphanie Vasseur ◽  
...  

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.


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

Sign in / Sign up

Export Citation Format

Share Document