740 Biomarkers diverging between tumor mutation burden and microsatellite instability
نویسندگان
چکیده
منابع مشابه
Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication.
BRAF mutation in colorectal cancer is associated with microsatellite instability (MSI) through its relationship with high-level CpG island methylator phenotype (CIMP) and MLH1 promoter methylation. MSI and BRAF mutation analyses are routinely used for familial cancer risk assessment. To clarify clinical outcome associations of combined MSI/BRAF subgroups, we investigated survival in 1253 rectal...
متن کاملAssociations between smoking, alcohol consumption, and colorectal cancer, overall and by tumor microsatellite instability status.
INTRODUCTION Both smoking and alcohol consumption have been associated with modestly increased risks of colorectal cancer (CRC). Reports have suggested that these associations may differ by tumor molecular subtype, with stronger associations for microsatellite unstable (MSI-H) tumors. METHODS We used a population-based case-unaffected sibling design including 2,248 sibships (2,253 cases; 4,48...
متن کاملMicrosatellite instability status determined by next‐generation sequencing and compared with PD‐L1 and tumor mutational burden in 11,348 patients
Microsatellite instability (MSI) testing identifies patients who may benefit from immune checkpoint inhibitors. We developed an MSI assay that uses data from a commercially available next-generation sequencing (NGS) panel to determine MSI status. The assay is applicable across cancer types and does not require matched samples from normal tissue. Here, we describe the MSI-NGS method and explore ...
متن کاملCarcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics.
DNA mismatch repair (MMR) deficiency results in a strong mutator phenotype and high-frequency microsatellite instability (MSI-H), which are the hallmarks of tumors arising within Lynch syndrome. MSI-H is characterized by length alterations within simple repeated sequences, microsatellites. Lynch syndrome is primarily due to germline mutations in one of the DNA MMR genes; mainly hMLH1 or hMSH2 a...
متن کاملMicrosatellite instability differences between familial and sporadic ovarian cancers.
DNA instability, reflected in altered patterns of short tandem repeat sequences (microsatellites) in dividing cells, has been described in hereditary non-polyposis colon cancer (HNPCC) and in other tumor types. Ovarian cancer (OC), although most often a sporadic cancer, can recur, with HNPCC, as part of the Lynch cancer family syndrome. In an investigation of microsatellite instability (MIN) in...
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ژورنال
عنوان ژورنال: Journal for ImmunoTherapy of Cancer
سال: 2020
ISSN: 2051-1426
DOI: 10.1136/jitc-2020-sitc2020.0740