Molecular basis of low-penetrance retinoblastoma

Research output: Contribution to journalArticle

75 Citations (Scopus)

Abstract

Retinoblastoma is a malignant tumor of the retina that occurs primarily in young children as a result of mutations in the retinoblastoma gene (RB), the first tumor suppressor gene to be identified. In about 35% to 40% of patients with retinoblastoma, an RB gene mutation is present in the germline, resulting in hereditary transmission of the disease. Most families with hereditary retinoblastoma demonstrate autosomal dominant inheritance with almost complete penetrance and high expressivity. However, some families display an inheritance pattern characterized by reduced penetrance and expressivity. Recent advances in our understanding of the structure and function of the retinoblastoma protein (pRB) now provide new insights into the molecular basis of this low-penetrance form of retinoblastoma. Low-penetrance retinoblastoma mutations either cause a reduction in the amount of normal pRB that is produced (class 1 mutations) or result in a partially functional mutant pRB (class 2 mutations).

Original languageEnglish
Pages (from-to)1699-1704
Number of pages6
JournalArchives of Ophthalmology
Volume119
Issue number11
StatePublished - Nov 17 2001
Externally publishedYes

Fingerprint

Retinoblastoma
Penetrance
Mutation
Retinoblastoma Genes
Inheritance Patterns
Retinoblastoma Protein
Inborn Genetic Diseases
Tumor Suppressor Genes
Retina
Genes
Neoplasms

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Molecular basis of low-penetrance retinoblastoma. / William Harbour, J.

In: Archives of Ophthalmology, Vol. 119, No. 11, 17.11.2001, p. 1699-1704.

Research output: Contribution to journalArticle

@article{33c9123008934a9ab13cdd6404c2abef,
title = "Molecular basis of low-penetrance retinoblastoma",
abstract = "Retinoblastoma is a malignant tumor of the retina that occurs primarily in young children as a result of mutations in the retinoblastoma gene (RB), the first tumor suppressor gene to be identified. In about 35{\%} to 40{\%} of patients with retinoblastoma, an RB gene mutation is present in the germline, resulting in hereditary transmission of the disease. Most families with hereditary retinoblastoma demonstrate autosomal dominant inheritance with almost complete penetrance and high expressivity. However, some families display an inheritance pattern characterized by reduced penetrance and expressivity. Recent advances in our understanding of the structure and function of the retinoblastoma protein (pRB) now provide new insights into the molecular basis of this low-penetrance form of retinoblastoma. Low-penetrance retinoblastoma mutations either cause a reduction in the amount of normal pRB that is produced (class 1 mutations) or result in a partially functional mutant pRB (class 2 mutations).",
author = "{William Harbour}, J.",
year = "2001",
month = "11",
day = "17",
language = "English",
volume = "119",
pages = "1699--1704",
journal = "JAMA Ophthalmology",
issn = "2168-6165",
publisher = "American Medical Association",
number = "11",

}

TY - JOUR

T1 - Molecular basis of low-penetrance retinoblastoma

AU - William Harbour, J.

PY - 2001/11/17

Y1 - 2001/11/17

N2 - Retinoblastoma is a malignant tumor of the retina that occurs primarily in young children as a result of mutations in the retinoblastoma gene (RB), the first tumor suppressor gene to be identified. In about 35% to 40% of patients with retinoblastoma, an RB gene mutation is present in the germline, resulting in hereditary transmission of the disease. Most families with hereditary retinoblastoma demonstrate autosomal dominant inheritance with almost complete penetrance and high expressivity. However, some families display an inheritance pattern characterized by reduced penetrance and expressivity. Recent advances in our understanding of the structure and function of the retinoblastoma protein (pRB) now provide new insights into the molecular basis of this low-penetrance form of retinoblastoma. Low-penetrance retinoblastoma mutations either cause a reduction in the amount of normal pRB that is produced (class 1 mutations) or result in a partially functional mutant pRB (class 2 mutations).

AB - Retinoblastoma is a malignant tumor of the retina that occurs primarily in young children as a result of mutations in the retinoblastoma gene (RB), the first tumor suppressor gene to be identified. In about 35% to 40% of patients with retinoblastoma, an RB gene mutation is present in the germline, resulting in hereditary transmission of the disease. Most families with hereditary retinoblastoma demonstrate autosomal dominant inheritance with almost complete penetrance and high expressivity. However, some families display an inheritance pattern characterized by reduced penetrance and expressivity. Recent advances in our understanding of the structure and function of the retinoblastoma protein (pRB) now provide new insights into the molecular basis of this low-penetrance form of retinoblastoma. Low-penetrance retinoblastoma mutations either cause a reduction in the amount of normal pRB that is produced (class 1 mutations) or result in a partially functional mutant pRB (class 2 mutations).

UR - http://www.scopus.com/inward/record.url?scp=0034762772&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034762772&partnerID=8YFLogxK

M3 - Article

C2 - 11709023

AN - SCOPUS:0034762772

VL - 119

SP - 1699

EP - 1704

JO - JAMA Ophthalmology

JF - JAMA Ophthalmology

SN - 2168-6165

IS - 11

ER -