THE BLOOM SYNDROME AND RETINOBLASTOMA PATIENT EXHIBITS TWO RB1 GENE MUTATIONS IN THE GERMLINE

Without a family history of cancer, a patient with retinoblastoma and Bloom syndrome presents two mutations in the germline on the RB1 gene; this results in very low levels of RB1 mRNA systemically, thereby increasing the patient's risk of developing another type of cancer throughout his life.

Authors

Mariana Moctezuma-Dávila (ORCID: https://orcid.org/0000-0002-1931-307X)
Martha Rangel-Charqueño
C. Flores (ORCID: https://orcid.org/0009-0007-6263-442X)
Mayra Martínez Sánchez Dra
Vanesa Olivares Illana Dra

Institutions

Autonomous University of San Luis Potosí (MX)
Hospital Central Dr. Ignacio Morones Prieto (MX)

Publication Details

Journal: Retinal Cases & Brief Reports
Published: 2024-11-11
DOI: https://doi.org/10.1097/icb.0000000000001691
Primary Topic: Cancer-related Molecular Pathways
Type: article
Field-Weighted Citation Impact: 0.00

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article

THE BLOOM SYNDROME AND RETINOBLASTOMA PATIENT EXHIBITS TWO RB1 GENE MUTATIONS IN THE GERMLINE

Mariana Moctezuma-Dávila, Martha Rangel-Charqueño, C. Flores, Mayra Martínez Sánchez Dra et al.

Nov 11, 2024

Retinal Cases & Brief Reports

Cancer-related Molecular Pathways

article

THE BLOOM SYNDROME AND RETINOBLASTOMA PATIENT EXHIBITS TWO RB1 GENE MUTATIONS IN THE GERMLINE

Mariana Moctezuma-Dávila, Martha Rangel-Charqueño, C. Flores, Mayra Martínez Sánchez Dra, Vanesa Olivares Illana Dra

November 11, 2024article en

Abstract

Without a family history of cancer, a patient with retinoblastoma and Bloom syndrome presents two mutations in the germline on the RB1 gene; this results in very low levels of RB1 mRNA systemically, thereby increasing the patient's risk of developing another type of cancer throughout his life.

Retinal Cases & Brief ReportsVol. 20(1)

Autonomous University of San Luis Potosí (MX), Hospital Central Dr. Ignacio Morones Prieto (MX)

Openalex Percentile: Top 64%

Cancer-related Molecular Pathways

DOI Open Access PDF OpenAlex

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