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Experience of the implementation and outcomes of universal testing for Lynch syndrome in the United Kingdom
Author(s) -
Cavazza A.,
Radia C.,
Harlow C.,
Monahan K. J.
Publication year - 2019
Publication title -
colorectal disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.029
H-Index - 89
eISSN - 1463-1318
pISSN - 1462-8910
DOI - 10.1111/codi.14597
Subject(s) - medicine , lynch syndrome , colorectal cancer , cohort , nice , guideline , stage (stratigraphy) , biopsy , oncology , cancer , dna mismatch repair , pathology , paleontology , computer science , biology , programming language
Aim Colorectal cancer ( CRC ) is diagnosed in approximately 45 000 people annually in the UK , and it is estimated that Lynch syndrome ( LS ) accounts for 3.1% of these cases. In February 2017, National Institute for Health and Care Excellence ( NICE guideline DG 27 recommended universal testing of new cases of CRC for mismatch repair ( MMR ) status. The aim of this study was to implement universal testing for LS in CRC patients in a secondary care setting. Method We prospectively collected data on consecutive newly diagnosed CRC patients at our centre from November 2016 to August 2018, including evidence of MMR status determined by immunohistochemistry. We recorded clinicopathological data including age at diagnosis, stage, tumour site, reported histological findings and MMR tumour status. Statistical analysis was performed using the chi‐square test and the two‐tailed t ‐test for binary and continuous variables, respectively. Results A cohort of 203 consecutive patients were diagnosed with CRC during this period. Universal MMR testing was performed for the 198 CRC patients in whom a diagnosis of adenocarcinoma was confirmed, with colonoscopic biopsy used as the source material in 68.6% of cases. Twenty‐three CRC s (11.6%) were MMR deficient ( dMMR ). Most dMMR CRC s (21/23) were early stage tumours (Dukes A or B, P = 0.002). In 39 Dukes B CRC s in patients under 70 years of age, the result of MMR testing influenced decision‐making about personalized treatment with 5‐fluorouracil based chemotherapy. Conclusion Our results demonstrate that universal testing of all new cases of CRC for features suggestive of LS is feasible and effective in the UK . Our data also indicate the importance of genetic testing and personalized oncological care.