scholarly journals Impact of different selection approaches for identifying Lynch Syndrome-related colorectalcancer patients: unity is strength

2022 ◽  
Author(s):  
Antonio Russo
Keyword(s):  
Lynch Syndrome

Predicting Lynch Syndrome Propensity to Cancer

2006 ◽  
Vol 39 (21) ◽  
pp. 52
Author(s):  
MARY ANN MOON
Keyword(s):  
Lynch Syndrome

DIAGNOSE AND DISREGARD POLICY CAN BE IMPLEMENTED IN PATIENTS WITH LYNCH SYNDROME WHEN DONE BY EXPERT COLONOSCOPISTS

2019 ◽  
Author(s):  
A Gavrić ◽  
L Rivero Sanchez ◽  
C Arnau ◽  
J Herrero ◽  
D Remedios ◽  
...  
Keyword(s):  
Lynch Syndrome

A rare case of lynch syndrome in a patient with metastatic malignant paraganglioma with SDHA mutation

2020 ◽  
Author(s):  
Blanco Jessica Ares ◽  
Pedro Pujante ◽  
Raul Rodriguez ◽  
Soraya Lanes ◽  
Elías Delgado ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Rare Case ◽  
Malignant Paraganglioma

Lynch Syndrome and Related Familial Colorectal Cancers

2008 ◽  
Vol 14 (1) ◽  
pp. 1-22 ◽  
Author(s):  
Wael M. Abdel-Rahman ◽  
Paivi Peltomaki
Keyword(s):  
Lynch Syndrome ◽  
Colorectal Cancers

TUMOUR PATHOLOGY PREDICTS MICROSATELLITE INSTABILITY IN A POPULATION-BASED SERIES OF COLORECTAL CANCER CASES

2008 ◽  
Vol 31 (4) ◽  
pp. 12
Author(s):  
A J Hyde ◽  
D Fontaine ◽  
R C Green ◽  
M Simms ◽  
P S Parfrey ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Microsatellite Instability ◽  
Population Based ◽  
Pathological Features ◽  
Predictive Tool ◽  
Entire Cohort ◽  
Dna Mismatch ◽  
Bethesda Guidelines ◽  
Revised Bethesda Guidelines

Background: Lynch Syndrome is an autosomal dominant trait that accounts forapproximately 3% of all cases of colorectal cancer (CRC). It is caused by mutations in DNA mismatch repair (MMR) genes, most commonly MLH1 or MSH2. These MMR defects cause high levels of microsatellite instability (MSI-H) in the tumours. MSI testing of all CRCs to identify potential Lynch Syndrome cases is not practical, so the Bethesda Guidelines, which use clinical and pathological features, were created to identify those tumours most likely to be MSI-H^1. In 2007 Jenkins et. al. created MsPath, a tool based on the pathological features described in the rarely used 3^rd Bethesda criterion, to improve prediction of MSI-H tumours among CRC cases diagnosed before age 60 years^2. Methods: We collected a population-based cohort of 716 CRC cases diagnosed before age 75 years in Newfoundland. For each of these cases we collected family history, performed MSI analysis, and scored a number of pathological features for the purpose of evaluating the accuracy of the Bethesda Criteria and MsPath at predicting MSI-H tumours. Results: Our work validates the MsPath tool in the Newfoundland population for the same age group used to create the tool. We found it identified MSI-H cases with a sensitivity of 95% and specificity of 35% in our population of CRCcases diagnosed before age 60 years (n=290). We also tested this tool on our older population of CRCcases, diagnosed at ages 60 to 74 years (n=426). We found it to be at least as predictive in this population,with a sensitivity of 95% and a specificity of 42%. We then used our entire cohort (N=716) to compare MsPath with the other Bethesda criteria.Bethesda criteria 1, 2, 4 and 5 together predicted MSI-H cases with a sensitivity of 67% and a specificity of 51%. MsPath was better at identifying these cases, with a sensitivity of 95% and a specificity of 39%. Conclusions: We conclude that MsPath can be extended to include patients diagnosed with CRC before age 75 years. As well, we have found that MsPath is a better predictive tool than the Revised Bethesda Guidelines for identifying MSI-H cases within a population-based setting of colorectal cancer. References: 1. Umar, A. et. al. J Natl Cancer Inst 2004;96:261-8 2.Jenkins, M.A. et. al. Gastroenterology 2007;133:48-56

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