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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
INTRODUCTION: Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency. Tumours show microsatellite instability (MSI), also reported at low levels in non-neoplastic tissues. Our aim was to evaluate the...
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| Udgivet i: | J Med Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7146943/ https://ncbi.nlm.nih.gov/pubmed/31494577 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106272 |
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