Table 2.
Susceptibility gene screening results
| Gene | Chrom | Ref | Alt | Type | AA change | CGC-cancers |
|---|---|---|---|---|---|---|
| BARD1 | chr2 | G | A | Missense | p.Pro24Ser/c.70C>T | Ovarian cancer; breast cancer; endometrioid cancer |
| KDR | chr4 | T | A | Missense | p.Gln472His/c.1416A>T | Melanoma |
| KDR | chr4 | C | T | Structural interaction | c.889G>A | Melanoma |
| FAT1 | chr4 | T | C | Missense | p.Asn1664Ser/c.4991A>G | Pancreatic |
| HNF1A | chr12 | T | C | Missense | p.Leu551Ser/c.1652T>C | Hepatic adenoma; hepatocellular carcinoma |
| BRCA2 | chr13 | A | C | Missense | p.Asn289His/c.865A>C | Breast; ovarian; pancreatic; leukemia |
| FANCA | chr16 | G | A | Missense | p.Ser1088Phe/c.3263C>T | AML; leukemia |
| BRCA1 | chr17 | T | C | Missense | p.Ser1634Gly/c.4900A>G | Breast; ovarian |
| BRCA1 | chr17 | T | C | Missense | p.Glu1038Gly/c.3113A>G | Breast; ovarian |
Chrom chromosome, POS position on chromosome, REF reference base, ALT alternative base, AA change: information on amino acid changes, CGC-Cancers tumor name annotated in the CGC database