Table 3.
Seven genetic susceptibility genes identified from the 28 pivotal genes with mutations in this FNMTC family
| Gene | ANO7 | CAV2 | KANK1 | PIK3CB | PKD1L1 | PTPRF | RHBDD2 |
| Cytoband | 2q37.3 | 7q31.2 | 9p24.3 | 3q22.3 | 7p12.3 | 1p34.2 | 7q11.23 |
| Accession number | NM‐001001891.3 | NM‐001233.5 | NM‐015158.3 | NM‐006219.2 | NM‐138295.4 | NM‐002840.4 | NM‐001040456.2 |
| Type | Nonsynonymous SNV | Nonsynonymous SNV | Nonsynonymous SNV | Nonsynonymous SNV | Nonsynonymous SNV | Nonsynonymous SNV | Nonsynonymous SNV |
| SNP annotation | rs57677160 | rs8940 | rs28374506 | rs375961764 | rs17131915 | rs17849118 | rs11547498 |
| OMIM | 605,096 | 601,048 | 607,704 | 602,925 | 609,721 | 179,590 | 615,203 |
| ExAC ALL | 0.20 | 0.15 | 0.04 | — | 0.01 | 0.00 | 0.00 |
| ExAC EAS | 0.01 | 0.01 | 0.01 | 0.00 | 0.01 | 0.00 | 0.01 |
| GnomAD ALL | 0.20 | 0.15 | 0.09 | — | 0.02 | — | 0.00 |
| GnomAD EAS | 0.02 | 0.01 | 0.01 | 0.00 | 0.01 | 0.00 | 0.00 |
| Tumor‐associated disease | Prostate cancer; breast cancer | Thyroid cancer; prostate cancer; breast cancer; renal cell carcinoma | Gastric cancer; renal cell carcinoma; peripheral nerve sheath tumor | Thyroid cancer; breast cancer; glioblastoma | Breast cancer | Gastric cancer; prostate cancer; lung cancer | Breast cancer; colorectal cancer |
| Gene Ontology annotation | Intracellular calcium activated chloride channel activity; phospholipid scramblase activity | Protein homodimerization activity; D1 dopamine receptor binding | Beta‐catenin binding | Transferase activity; transfers phosphorus‐containing groups; kinase activity | Calcium channel activity | Phosphatase activity | Serine‐type endopeptidase activity |
| Pathway | Ion channel transport; transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | EGF/EGFR signaling pathway; syndecan−2‐mediated signaling events | — | Glioma and development dopamine D2 receptor transactivation of EGFR | — | Transmission across chemical synapses; adhesion | — |
Abbreviations: EAS, East Asian population; EGF, epidermal growth factor; EGFR, epidermal growth factor receptor; ExAC, Exome Aggregation Consortium; FNMTC, familial nonmedullary thyroid cancer; gnomAD, Genome Aggregation Database; SNP, single‐nucleotide polymorphism; SNV, single‐nucleotide variant.