Skip to main content

Table 1 Guardant360 liquid biopsy genomic alterations

From: ARID1A genomic alterations driving microsatellite instability through somatic MLH1 methylation with response to immunotherapy in metastatic lung adenocarcinoma: a case report

ARID1A (%cfDNA)

RET (%cfDNA)

STK11 (%cfDNA)

NFE2L2 (%cfDNA)

BRCA (%cfDNA)

EGFR (%cfDNA)

Other genes (%cfDNA)

Exon 18 deletion (16.9%)

KIF5B-RET fusion (9.1%)

Exon 6 deletion (2.2%)

R34Q (2.1%)

Exon deletion BRCA2 (1.4%)

R776H (0.8%)

Splice site SNV NF1 (1.1%)

Exon 1 deletion (12.1%)

  

L30F (1.4%)

R2784Q BRCA2 (0.2%)

 

R181C TP53 (1.2%)

Exon 1 deletion (1.9%)

   

Exon 11 deletion BRCA2 (0.1%)

 

EXON 2 insertion CDKN2A (0.4%)

Exon 1 insertion (1.2%)

   

Exon 10 deletion BRCA1 (0.2%)

 

H83Y CDKN2A (0.2%)

R1722 (0.6%)

      

Exon 20 deletion (0.4%)

      
  1. Guardant360 liquid biopsy results. 97 genomic alterations (19 actionable). 33.6% of altered cell-free DNA (%cfDNA) for five different exon deletions and one mutation in AT-rich interactive domain-containing 1A (ARID1A) gene. Other potential molecular targets: RET fusions, BRCA1/2 gene mutations, EGFR R776H mutation, and CDKN2A mutations. 77 alterations (not depicted in the table) were VUS (variants of unknown significance), synonymous, or non-actionable mutations in different genes
  2. ARID1A AT-rich interactive domain-containing 1A, RET ret proto-oncogene, STK11 serine/threonine kinase 11, NFE2L2 nuclear factor erythroid 2 like 2, BRCA breast cancer gene, EGFR epidermal growth factor receptor, KIF5B kinesin family member 5B, NF1 neurofibromatosis type I, TP53 tumor protein 53, CDKN2A cyclin dependent kinase Inhibitor 2A, cfDNA cell free DNA, SNV single nucleotide variant
Back to article page

Journal of Medical Case Reports

ISSN: 1752-1947