Table 1 Genomic alterations of ureteral HAC by NGS testing
Gene | Classification of mutation | Variation Location | Protein change | Interpretation | Gene function |
|---|---|---|---|---|---|
BRCA1 | Germline | g.17:41244822 NM_007294 c.2726A > T | N909I | Uncertain significance, likely benign. | Tumor suppressor, involved in DNA repair of double-stranded breaks, mutations in inherited breast and ovarian cancers. |
IRS1 | Germline | g.2:227661669 NM_005544.2 c.1786G > A | G596R | Uncertain significance | Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. |
ALK | Germline | g.2:29497990 NM_004304.4 c.2016A > T | R672S | Uncertain significance | A receptor tyrosine kinase, rearranged, mutated, or amplified in a series of tumors. |
TP53 | Somatic | g.17:7577097 NM_000546 c.841G > C | D281H | Likely pathogenic | Tumor suppressor, containing transcriptional activation, DNA binding, and oligomerization domains. Mutations in a variety of human cancers. |
KMT2D | Somatic | g.12:49443740 NM_003482.3 c.3629_3630dup | L1211Ifs*2 | Pathogenic | A histone methyltransferase that methylates the Lys-4 position of histone H3. Mutations in Kabuki syndrome and upper urinary tract urothelial cancer. |
KMT2D | Somatic | g.12:49437151 NM_003482 c.5527dup | T1843Nfs*5 | Pathogenic |