Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance

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RESEARCH PRODUCT

Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance

Toni T. Seppälä Toni T. Seppälä Lena Bohaumilitzky Anna Lepistö Maarit Ahtiainen Jukka-pekka Mecklin Jan Böhm Magnus Von Knebel Doeberitz Svenja Kösegi Volker Endris Kosima Kosmalla Laura Renkonen-sinisalo Yee Lin Tang Aysel Ahadova Hendrik Bläker Johannes Witt Albrecht Stenzinger Matthias Kloor Nico Müller Alexej Ballhausen Pauline L. Pfuderer

subject

Oncology Colorectal cancer Colonoscopy biomarkkerit HEREDITARY GUIDELINES Tp53 mutation medicine.disease_cause Molecular level 0302 clinical medicine RISK incident cancer cancer prevention medicine.diagnostic_test R General Medicine TUMORS Lynch syndrome 3. Good health syöpäsolut CARCINOMAS 030220 oncology & carcinogenesis Medicine DNA mismatch repair 030211 gastroenterology & hepatology KRAS carcinogenesis koloskopia medicine.medical_specialty DATABASE colorectal cancer suolistosyövät mikrosatelliitit Article 03 medical and health sciences colonoscopy screening Internal medicine mutational profiling medicine Lynchin oireyhtymä Pathological paksusuolisyöpä Cancer prevention mismatch repair deficiency business.industry Microsatellite instability SCREENING INTERVAL 3126 Surgery anesthesiology intensive care radiology medicine.disease digestive system diseases MSH2 Lynch syndrome MSH2 3121 General medicine internal medicine and other clinical medicine T-stage CLINICAL MANAGEMENT microsatellite instability mutaatiot business

description

Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether cancers detected under regular colonoscopy surveillance (incident cancers) are phenotypically different from cancers detected at first colonoscopy (prevalent cancers). We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing and high-throughput coding microsatellite (cMS) analysis, in 28 incident and 67 prevalent LS CRCs (n total = 95). Incident cancers presented with lower UICC and T stage compared to prevalent cancers (p &lt

year	journal	country	edition	language
2021-06-01	Journal of Clinical Medicine

https://doi.org/10.3390/jcm10112458