Non-RB1 germline cancer predisposing variants found in retinoblastoma patients.

ABSTRACT:

Purpose

It is well known that individuals with hereditary retinoblastoma are at lifelong high risk for developing subsequent malignant neoplasms (SMN). However, the role that non-RB1 germline variants play in tumorigenesis and SMN risk has not yet been studied. The purpose of this study is to report the frequency and spectrum of non-RB1 germline cancer predisposing variants in individuals with retinoblastoma (RB).

Methods

Retrospective data collection from institutional electronic medical records of 94 individuals seen at our institution with personal history of retinoblastoma, who had undergone next-generation sequencing germline analysis.

Results

The prevalence of individuals with cancer predisposition was 57% (54/94). Of these individuals, 76% (41/54)

SUBMITTER: Rodriguez Barreto AM 

PROVIDER: S-EPMC11613778 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature