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How to Curate a Gene Page (view source)
Revision as of 18:59, 5 December 2018
, 18:59, 5 December 2018→6. COMMON ALTERATION TYPES Section
=== 6. COMMON ALTERATION TYPES Section ===
=== 6. COMMON ALTERATION TYPES Section ===
This section should be completed in concert with the GENE OVERVIEW Section and CANCER CATEGORY/TYPE Section. It is meant to be an "At a Glance" section for the type of alteration that ARE MOST COMMON ACROSS ALL CANCERS. The types of alterations are:
Copy Number Loss
Copy Number Gain
LOH (Loss of Heterozygosity)
Loss-of-Function Mutation
Gain-of-Function Mutation
Translocation/Fusion
In some cases (eg, like TP53) this may not help the user much, as TP53 mutations encompasses all types.
{| class="wikitable sortable"
|-
! Copy Number Loss !! Copy Number Gain !! LOH !! Loss-of-Function Mutation !! Gain-of-Function Mutation !! Translocation/Fusion
|-
| EXAMPLE: X ||EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X
|}
However, in many cases, these types of tables are useful to a user. In the example of RUNX1, by far the most frequent mutations are fusion genes which are loss of function mutations. See the example below.
'''Acute Myeloid Leukemia (AML);''' t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion
'''B-cell Acute Lymphocytic Leukemia (B-ALL);''' t(12;21)(p13;q22) resulting in ETV6-RUNX1 fusion
{| class="wikitable sortable"
|-
! Copy Number Loss !! Copy Number Gain !! LOH !! Loss-of-Function Mutation !! Gain-of-Function Mutation !! Translocation/Fusion
|-
| || || || X || || X
|}
=== 7. INTERNAL PAGES Section ===
=== 7. INTERNAL PAGES Section ===