Low Penetrance of Retinoblastoma for p.V654L Mutation of the RB1 Gene
Author Information
Author(s): Hung Chia-Cheng, Lin Shin-Yu, Lee Chien-Nan, Chen Chih-Ping, Lin Shuan-Pei, Chao Mei-Chyn, Chiou Shyh-Shin, Su Yi-Ning
Primary Institution: National Taiwan University College of Medicine
Hypothesis
What is the penetrance of the p.V654L mutation in the RB1 gene within a large Taiwanese family?
Conclusion
The study found that the p.V654L mutation in the RB1 gene is associated with a low penetrance of 36% in the examined family.
Supporting Evidence
- Only four individuals developed unilateral retinoblastoma out of 11 family members with the mutation.
- The penetrance of the p.V654L mutation was calculated to be 36%.
- The family history was positive for retinoblastoma, indicating a genetic link.
Takeaway
In a family with a specific gene mutation, only a few members got eye cancer, showing that not everyone with the mutation will get sick.
Methodology
The study involved screening 30 family members for mutations in the RB1 gene using high resolution melting assay and DNA sequencing.
Limitations
The study did not analyze the expression of the p.V654L mutation at the RNA level.
Participant Demographics
The study involved a large Taiwanese family with a history of retinoblastoma.
Digital Object Identifier (DOI)
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