| Gene | Variant (WGS, hg38) | Gender | Age | Diagnosis |
|---|---|---|---|---|
| APC |
chr5:g.112839372C > T c.2929C>T (p.Gln977Ter) |
Female | 37 | Colorectal cancer |
| MLH1 | c.293G>C (p.Gly98Ala) | Female | 47 | Ovarian and endometrial cancer |
| MLH1 | c.1921dup (p.Leu641fs) | Male | 37 | Colorectal cancer |
| PMS2 | c.327del (p.Ala110LeufsTer2) | Female | 39 | Colorectal cancer |
| MSH6 | c.1964T>A (p.Leu655Ter) | Female | 40 | Breast cancer |
| MSH2 | c.1857dup (p.Val620CysfsTer24) | Male | 36 | Colorectal cancer |
| BRCA1 | c.31_34del (p.Val11LysfsTer11) | Female | 46 | Ovarian cancer |
| BRCA2 | c.8827C>T (p.Gln2943Ter) | Female | 58 | Bilateral breast cancer |
| BRCA2 | c.8437G>T (p.Gly2813Ter) | Female | 34 | Breast cancer |
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