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Patient’s WES results.
| Gene | Variant/Protein | Inheritance | Clinical relevance |
|---|---|---|---|
|
PMS2 (7p22.1) OMIM *600259 |
c.137 G>T, p.(Ser46Ile) |
AD |
Lynch Syndrome (OMIM #614337) Colon cancer (12–13% risk) Gastric cancer Small intestine cancer Hepatobiliary cancer Endometrial cancer (13% risk) Ovarian cancer Breast cancer Urinary tract cancer Brain cancer Skin cancer |
