Annotation Detail
Information
- Associated Genes
- HLA-C
- Associated Variants
-
HLA-C COPY-NEUTRAL LOSS OF HETEROZYGOSITY
HLA-C COPY-NEUTRAL LOSS OF HETEROZYGOSITY - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- A patient with metastatic colorectal cancer was enrolled in a phase 2 clinical trial (NCT01174121). 24 cultures of tumor-infiltrating lymphocytes were expanded from 3 lung metastasis resections. After cultures were tested for reactivity, the patient was infused with 1.48 x 10^11 tumor-infiltrating lymphocytes (75% CD8+ T cells) that were specifically reactive to KRAS G12D and HLA-C*08:02. A single lesion that progressed after 9 months still expressed the KRAS G12D mutation. Whole-exome analysis revealed copy-neutral loss of heterozygosity at chromosome 6, encoding the HLA locus and resulting in loss of the targeted HLA-C*08:02 allele.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1899
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2608
- Variant URL
- https://civic.genome.wustl.edu/links/variants/821
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Therapeutic Tumor Infiltrating Lymphocytes
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 27959684
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Therapeutic Tumor Infiltrating Lymphocytes | Resitance or Non-Reponse | true |