Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan

In conclusion, in addition to all bilateral RB patients in our cohort, 30% of unilateral cases showed germline mutation. Almost half (47%) of germline cases had inherited disease from affected (6%) parent or unaffected carrier (94%). Therefore molecular screening is critical for the genetic counseling regarding the risk for inherited RB in both unilatera l and bilateral cases including those with no family history.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research