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Correct guideline abbreviation - AMP/ASCO/CAP
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sigven committed Jul 13, 2024
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2 changes: 1 addition & 1 deletion README.md
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Expand Up @@ -10,7 +10,7 @@ The Personal Cancer Genome Reporter (PCGR) is a stand-alone software package for

- Variant classification
- according to *oncogenicity*: evaluating the oncogenic potential of somatic DNA aberrations (VICC/CGC/ClinGen guidelines)
- according to *actionability*: mapping the therapeutic, diagnostic, and prognostic implications of somatic DNA aberrations (ACMG/AMP guidelines)
- according to *actionability*: mapping the therapeutic, diagnostic, and prognostic implications of somatic DNA aberrations (AMP/ASCO/CAP guidelines)
- Tumor mutational burden (TMB) estimation
- Mutational signature analysis
- Microsatellite instability (MSI) classification
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2 changes: 1 addition & 1 deletion pcgrr/R/acmg.R
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Expand Up @@ -325,7 +325,7 @@ assign_acmg_tiers <- function(
results_acmg[['biomarker_evidence']][['tier_classification']] <-
tier_classification |>
dplyr::rename(ACTIONABILITY_TIER = .data$ACMG_AMP_TIER) |>
dplyr::mutate(ACTIONABILITY_FRAMEWORK = "ACMG_AMP") |>
dplyr::mutate(ACTIONABILITY_FRAMEWORK = "AMP_ASCO_CAP") |>
# dplyr::mutate(TIER_DESCRIPTION = dplyr::case_when(
# TIER == 1 ~ "Variants of strong clinical significance",
# TIER == 2 ~ "Variants of potential clinical significance",
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4 changes: 2 additions & 2 deletions pcgrr/R/input_data.R
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Expand Up @@ -834,13 +834,13 @@ load_dna_variants <- function(


## Assign each variant a tier according to
## ACMG/AMP guidelines for clinical actionability
## AMP/ASCO/CAP guidelines for clinical actionability
## of somatic variants
if (variant_origin == "Somatic") {

pcgrr::log4r_info(
paste0("Assigning variants to tiers of clinical significance",
" - somatic actionability guidelines (ACMG/AMP)"))
" - somatic actionability guidelines (AMP/ASCO/CAP)"))
results <- pcgrr::assign_acmg_tiers(
vartype = vartype,
variants_df = results$variant,
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2 changes: 1 addition & 1 deletion pcgrr/inst/templates/pcgr_quarto_report/documentation.qmd
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Expand Up @@ -91,7 +91,7 @@ Note also that for somatic copy number aberrations, we showcase potential oncoge

#### Actionability classificaton

Clinical actionability assessment of SNVs/InDels and gene copy number aberrations found in the tumor sample follows recommendation guidelines by ACMG/AMP [@Li2017-ew]. Specifically, different levels of actionability are implemented in the following manner:
Clinical actionability assessment of SNVs/InDels and gene copy number aberrations found in the tumor sample follows recommendation guidelines by AMP/ASCO/CAP [@Li2017-ew]. Specifically, different levels of actionability are implemented in the following manner:

- **TIER 1: Variants of strong clinical significance** - constitutes aberrations linked to predictive, prognostic, or diagnostic biomarkers in the [CIViC database](http://civic.genome.wustl.edu) and the [Cancer Biomarkers Database](https://www.cancergenomeinterpreter.org/biomarkers) that are
- Found within the same tumor type/class as specified by the user, **AND**
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@@ -1,9 +1,9 @@
### Variant classification - actionability

Acquired SNVs and InDels in the tumor sample have been assessed for
_clinical actionability_ through an implementation of ACMG/AMP guidelines [@Li2017-ew]. We use CIViC and CGI [@Griffith2017-do;@Tamborero2018-aj] as the underlying sources for actionable variants (versions indicated [below](#documentation)).
_clinical actionability_ through an implementation of AMP/ASCO/CAP guidelines [@Li2017-ew]. We use CIViC and CGI [@Griffith2017-do;@Tamborero2018-aj] as the underlying sources for actionable variants (versions indicated [below](#documentation)).

The tabset below indicates which variants have been classified into three distinct _tiers of clinical significance_ according to ACMG/AMP criteria.
The tabset below indicates which variants have been classified into three distinct _tiers of clinical significance_ according to AMP/ASCO/CAP criteria.

::: {.callout-note}
## Note - biomarker matching
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2 changes: 1 addition & 1 deletion pcgrr/pkgdown/index.md
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Expand Up @@ -11,7 +11,7 @@ The Personal Cancer Genome Reporter (PCGR) is a stand-alone software package for

- Variant classification
- according to *oncogenicity*: evaluating the oncogenic potential of somatic DNA aberrations (VICC/CGC/ClinGen guidelines)
- according to *actionability*: mapping the therapeutic, diagnostic, and prognostic implications of somatic DNA aberrations (ACMG/AMP guidelines)
- according to *actionability*: mapping the therapeutic, diagnostic, and prognostic implications of somatic DNA aberrations (AMP/ASCO/CAP guidelines)
- Tumor mutational burden (TMB) estimation
- Mutational signature analysis
- Microsatellite instability (MSI) classification
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16 changes: 8 additions & 8 deletions pcgrr/vignettes/output.Rmd
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Expand Up @@ -28,11 +28,11 @@ by the user. The following sections may be included in the report:
variant types and consequences
* Variants are classified with respect to _oncogenicity_ (VICC/ClinGen/CGC operating procedures)
- permits exploration of somatic mutations through interactive filtering according to several dimensions (variant sequencing depth/support, variant consequence etc.)
* Variants are classified with respect to _actionability_ (ACMG/AMP guidelines)
* Variants are classified with respect to _actionability_ (AMP/ASCO/CAP guidelines)
- individual evidence items linked to actionable variants can be explored, indicating strength of evidence, tumor type and therapeutic context, and clinical significance

3. __Somatic CNAs__
* Aberrations are classified with respect to _actionability_ (ACMG/AMP guidelines)
* Aberrations are classified with respect to _actionability_ (AMP/ASCO/CAP guidelines)
- individual evidence items linked to actionable variants can be explored, indicating strength of evidence, tumor type and therapeutic context, and clinical significance
* Other potentially oncogenic aberrations are listed, pProto-oncogenes subject to copy number amplifications, and tumor suppressor genes subject to homozygous deletions

Expand Down Expand Up @@ -280,12 +280,12 @@ The following variables are included in the TSV file (VCF tags issued by the use
| 19. `VAF_CONTROL` | Variant allele fraction at variant position in control sample |
| 20. `MUTATION_HOTSPOT` | Mutation hotspot annotation |
| 21. `MUTATION_HOTSPOT_CANCERTYPE` | Mutation hotspot-associated cancer types (from cancerhotspots.org) |
| 22. `ACTIONABILITY_TIER` | Actionability tier - ACMG/AMP implementation |
| 23. `ACTIONABILITY` | Actionability annotation - ACMG/AMP implementation |
| 24. `ACTIONABILITY_FRAMEWORK` | Actionability framework - ACMG/AMP implementation |
| 25. `ONCOGENICITY` | Oncogenicity annotation - VICC/ClinGen SOP implementation |
| 26. `ONCOGENICITY_CODE` | Oncogenicity code - VICC/ClinGen SOP implementation |
| 27. `ONCOGENICITY_SCORE` | Oncogenicity score - VICC/ClinGen SOP implementation |
| 22. `ACTIONABILITY_TIER` | Actionability tier - AMP/ASCO/CAP implementation |
| 23. `ACTIONABILITY` | Actionability annotation - AMP/ASCO/CAP implementation |
| 24. `ACTIONABILITY_FRAMEWORK` | Actionability framework - AMP/ASCO/CAP implementation |
| 25. `ONCOGENICITY` | Oncogenicity annotation - VICC/ClinGen/CGC SOP implementation |
| 26. `ONCOGENICITY_CODE` | Oncogenicity code - VICC/ClinGen/CGC SOP implementation |
| 27. `ONCOGENICITY_SCORE` | Oncogenicity score - VICC/ClinGen/CGC SOP implementation |
| 28. `HGVSc` | HGVS coding sequence name |
| 29. `HGVSp` | HGVS protein sequence name |
| 30. `CANONICAL` | Flag indicating if transcript is canonical |
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4 changes: 2 additions & 2 deletions pcgrr/vignettes/variant_classification.Rmd
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Expand Up @@ -28,9 +28,9 @@ The following criteria are currently used for oncogenicity classification in PCG
## Actionability
PCGR prioritizes and evaluates variants according to clinical actionability. Currently, PCGR implements its tier classification framework along the proposed ACMG/AMP guidelines, as detailed below.
PCGR prioritizes and evaluates variants according to clinical actionability. Currently, PCGR implements its tier classification framework along the proposed AMP/ASCO/CAP guidelines, as detailed below.
This tier model attempts to adopt concensus recommendations by ACMG, as outlined in [Li et al., 2017](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707196/):
This tier model attempts to adopt concensus recommendations by AMP/ASCO/CAP, as outlined in [Li et al., 2017](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707196/):
- *Tier 1: Variants of strong clinical significance* - constitutes variants linked to predictive, prognostic, or diagnostic evidence items in the [CIViC database](http://civic.genome.wustl.edu) or the [Cancer Biomarkers Database](https://www.cancergenomeinterpreter.org/biomarkers) that are
- A: found within the same tumor type/class as specified by the user, AND
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