Ocular Oncology and Treatments

Prevalence and Penetrance of Heritable Retinoblastoma in Two Adult Population Cohorts: Implications for genomic newborn screening

This study estimates the prevalence and penetrance of heritable retinoblastoma in adult cohorts using genomic data and health records, finding lower penetrance than clinical cohorts.

Establishment of Stable Immortalized Human Choroidal Melanocytes for Ocular Research

This study establishes and characterizes immortalized human choroidal melanocytes that retain melanocytic function and are suitable for gene editing.

Mitfa-Independent Melanocyte Progenitors are Highly Susceptible to GNAQ-induced Uveal Melanoma in Adult Zebrafish

This study shows that Mitfa-independent melanocyte progenitors in zebrafish are more susceptible to GNAQ-induced uveal melanoma than differentiated melanocytes.

Chromosome 3p deletion leads to extensive genomic alterations in diverse cancers and confers synthetic lethality in uveal melanoma

This study identifies chr3p deletion as a driver of genomic instability in cancers, showing synthetic lethality in uveal melanoma through MITF disruption and feedback loops with MYC and GNAQ/GNA11.

RAB1A is a novel vulnerability in uveal melanoma revealed by dual inhibition of MNK1/2 and mTOR.

This study identifies RAB1A as a vulnerability in uveal melanoma through dual inhibition of MNK1/2 and mTOR, showing it disrupts protein trafficking and blocks liver metastasis.

Clonal determinants of organotropism and survival in metastatic uveal melanoma

This study identifies clonal determinants of liver metastasis and poor survival in uveal melanoma by analyzing genomic and transcriptional features of primary and metastatic tumors.

Identification of targetable epigenetic vulnerabilities for uveal melanoma

This study identifies BET inhibition as a promising therapeutic strategy for uveal melanoma by demonstrating its efficacy in reducing metastasis and improving survival in a mouse model.

RB1 sequence variants in retinoblastoma. Analysis of RB1 variants in a database for correlation with pRB protein domains and clinical presentation

Driver mutations in GNAQ and GNA11 genes as potential targets for precision immunotherapy in uveal melanoma patients

The paper assesses the immunogenic potential of GNAQ and GNA11 mutations in uveal melanoma using genomic and transcriptomic data, finding Q209L mutations are more immunogenic than Q209P.

Multi-omics comparison of malignant and normal uveal melanocytes reveals novel molecular features of uveal melanoma.

The paper uses multi-omics analysis to compare malignant and normal uveal melanocytes, identifying genomic instability and a BAP1 promoter deletion as key features of uveal melanoma.