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Apparent Incompleteness of Subtypes #33

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DarioS opened this issue Nov 8, 2022 · 1 comment
Open

Apparent Incompleteness of Subtypes #33

DarioS opened this issue Nov 8, 2022 · 1 comment

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@DarioS
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DarioS commented Nov 8, 2022

I find that subtype information can have a large amount of incompleteness. For example, in Genomic Classification of Cutaneous Melanoma, Cell, 2015

BRAF Subtype
The largest genomic subtype is defined by the presence of BRAF hot-spot mutations (n = 166).
RAS Subtype
The second major subtype is defined by the presence of RAS hot-spot mutations (n = 95), including known amino acid changes with functional consequences, in all three RAS family members (N-, K- and H-RAS).
NF1 Subtype
The third most frequently observed SMG in the MAPK pathway was NF1, which was mutated in 14% (n = 28) of samples.
Triple Wild-Type Subtype
We defined the Triple-WT subtype (n = 46) as a heterogeneous subgroup characterized by a lack of hot-spot BRAF, N/H/K-RAS, or NF1 mutations.

but the the R package is

> table(colData(cutaneousMelanoma)[, "MUTATIONSUBTYPES"])
BRAF_Hotspot_Mutants      NF1_Any_Mutants  RAS_Hotspot_Mutants            Triple_WT 
                  32                    5                   11                    8

The R package has 343 patients and the journal article has 331, so it is unclear why there are so few assigned to a subtype.

@LiNk-NY
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LiNk-NY commented Apr 27, 2023

Hi @DarioS
Sorry I missed your issue. I am taking a look and looking for solutions.
Best,
Marcel

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