Mismatch Repair Screening of Gastrointestinal Cancers: The Impact on Lynch Syndrome Detection and Immunotherapy.

Journal of gastrointestinal cancer(2022)

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摘要
This study highlights the small but significant number of patients, with CRC or upper GI cancers, which were caused by Lynch syndrome. It also highlights weaknesses in our testing pathway that limit access to germline testing. As MMR testing increases, it is important that clinicians are aware that patients with MMR-D tumours require reflex somatic testing or referral for germline testing. We have incorporated the guidelines into a pathway for use in clinics and multidisciplinary teams.
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关键词
Colorectal cancer,Gastrointestinal cancer,Immunotherapy,Lynch syndrome,Microsatellite instability,Mismatch repair
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