Risk factors for metachronous colorectal cancer in Lynch syndrome patients: a registry-based observational mono-institutional study cohort

2020 ◽  
Vol 25 (9) ◽  
pp. 1644-1652
Author(s):  
Stefano Signoroni ◽  
Guglielmo Niccolò Piozzi ◽  
Maria Teresa Ricci ◽  
Andrea Mancini ◽  
Alberto Morabito ◽  
...  
2008 ◽  
Vol 26 (35) ◽  
pp. 5783-5788 ◽  
Author(s):  
Heather Hampel ◽  
Wendy L. Frankel ◽  
Edward Martin ◽  
Mark Arnold ◽  
Karamjit Khanduja ◽  
...  

Purpose Identifying individuals with Lynch syndrome (LS) is highly beneficial. However, it is unclear whether microsatellite instability (MSI) or immunohistochemistry (IHC) should be used as the screening test and whether screening should target all patients with colorectal cancer (CRC) or those in high-risk subgroups. Patients and Methods MSI testing and IHC for the four mismatch repair proteins was performed on 500 tumors from unselected patients with CRC. If either MSI or IHC was abnormal, complete mutation analysis for the mismatch repair genes was performed. Results Among the 500 patients, 18 patients (3.6%) had LS. All 18 patients detected with LS (100%) had MSI-high tumors; 17 (94%) of 18 patients with LS were correctly predicted by IHC. Of the 18 probands, only eight patients (44%) were diagnosed at age younger than 50 years, and only 13 patients (72%) met the revised Bethesda guidelines. When these results were added to data on 1,066 previously studied patients, the entire study cohort (N = 1,566) showed an overall prevalence of 44 of 1,566 patients (2.8%; 95% CI, 2.1% to 3.8%) for LS. For each proband, on average, three additional family members carried MMR mutations. Conclusion One of every 35 patients with CRC has LS, and each has at least three relatives with LS; all of whom can benefit from increased cancer surveillance. For screening, IHC is almost equally sensitive as MSI, but IHC is more readily available and helps to direct gene testing. Limiting tumor analysis to patients who fulfill Bethesda criteria would fail to identify 28% (or one in four) cases of LS.


2017 ◽  
Vol 32 (2) ◽  
pp. 301-326 ◽  
Author(s):  
Harindra Jayasekara ◽  
Jeanette C Reece ◽  
Daniel D Buchanan ◽  
Dennis J Ahnen ◽  
Susan Parry ◽  
...  

2017 ◽  
Vol 19 (6) ◽  
pp. 528-536 ◽  
Author(s):  
C. C. Anele ◽  
S. O. Adegbola ◽  
A. Askari ◽  
A. Rajendran ◽  
S. K. Clark ◽  
...  

2012 ◽  
Vol 55 (5) ◽  
pp. 522-531 ◽  
Author(s):  
Sanna A. Mulder ◽  
Ries Kranse ◽  
Ronald A. Damhuis ◽  
Rob J. Th. Ouwendijk ◽  
Ernst J. Kuipers ◽  
...  

2016 ◽  
Vol 24 (4) ◽  
pp. 1085-1092 ◽  
Author(s):  
Tae Jun Kim ◽  
Eun Ran Kim ◽  
Sung Noh Hong ◽  
Young-Ho Kim ◽  
Jung Wook Huh ◽  
...  

2018 ◽  
Vol 33 (6) ◽  
pp. 703-708 ◽  
Author(s):  
Morgan Anyla ◽  
Jérémie H. Lefevre ◽  
Ben Creavin ◽  
Chrystelle Colas ◽  
Magali Svrcek ◽  
...  

2010 ◽  
Vol 8 (Suppl 1) ◽  
pp. O7
Author(s):  
Lucio Bertario ◽  
Paola Sala ◽  
Paolo Radice ◽  
Stefano Signoroni ◽  
Giovanni Ballardini ◽  
...  

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