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Ref Type | Journal Article |
PMID | (19125127) |
Authors | Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN |
Title | EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics |
Vol | 11 |
Issue | 1 |
Date | 2009 Jan |
URL | |
Abstract Text |
Molecular Profile | Treatment Approach |
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Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
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Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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MSH6 mutant | colorectal cancer | not applicable | N/A | Clinical Study | Diagnostic | Germline mutations in MSH6 are associated with microsatellite instability in colorectal cancer (CRC), and are diagnostic for Lynch syndrome (hereditary nonpolyposis colorectal cancer) in colorectal cancer patients (PMID: 26582061; PMID: 19125127). | 26582061 19125127 |