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| !Established Clinical Significance Per Guidelines - Yes or No (Source) | | !Established Clinical Significance Per Guidelines - Yes or No (Source) |
| !Clinical Relevance Details/Other Notes | | !Clinical Relevance Details/Other Notes |
| | ! |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span> | | |1p |
| 7
| | |Loss |
| |<span class="blue-text">EXAMPLE:</span> Loss | | |Complete arm loss (PMIDs: 22941225, 29766299) |
| |<span class="blue-text">EXAMPLE:</span> | | |Chr1p |
| chr7
| | |Unknown |
| |<span class="blue-text">EXAMPLE:</span> | | |D |
| Unknown | | |Yes (WHO) |
| |<span class="blue-text">EXAMPLE:</span> D, P | | |Prevalence common, between 59% (by FISH; PMIDs: 22596013, 17184079, 19486008, 22941225, 25720745) and 100% (by CNV calling from DNA methylation array data; PMID: 29766299). |
| |<span class="blue-text">EXAMPLE:</span> No | |
| |<span class="blue-text">EXAMPLE:</span> | |
| Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
| |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span> | | |1q |
| 8
| | |Gain |
| |<span class="blue-text">EXAMPLE:</span> Gain | | |Complete arm gain (PMIDs: 29766299, 30465258) |
| |<span class="blue-text">EXAMPLE:</span> | | |Chr1q |
| chr8
| | |Unknown |
| |<span class="blue-text">EXAMPLE:</span> | | |D |
| Unknown | | |Yes (WHO) |
| |<span class="blue-text">EXAMPLE:</span> D, P | | |Prevalence common, between 56% and 63% (by CNV calling from DNA methylation array data; PMIDs: 29766299, 30465258) |
| | | | |
| |<span class="blue-text">EXAMPLE:</span> | | Found in all cases of DLGNT methylation class (MC)-2 (PMID: 29766299) |
| Common recurrent secondary finding for t(8;21) (add references).
| |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span> | | | colspan="8" | |
| 17
| |
| |<span class="blue-text">EXAMPLE:</span> Amp
| |
| |<span class="blue-text">EXAMPLE:</span>
| |
| 17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
| |
| |<span class="blue-text">EXAMPLE:</span>
| |
| ''ERBB2''
| |
| |<span class="blue-text">EXAMPLE:</span> D, P, T
| |
| |
| |
| |<span class="blue-text">EXAMPLE:</span>
| |
| Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
| |
| |-
| |
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| | | |
| |} | | |} |
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| [[Category:DISEASE]] | | [[Category:DISEASE]] |
| [[Category:Diseases D]] | | [[Category:Diseases D]] |
| | <references /> |