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PMID: 1336057 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Constitutional ring chromosomes and tumour suppressor genes.

Journal of medical genetics ·Vol. 29 ·No. 12 ·1992-12-00 ·Pages 879-82

Tommerup N, Lothe R

Abstract

The types of malignancy reported in carriers of constitutional ring chromosomes r(11), r(13), and r(22) are concordant with the chromosomal assignment of tumour suppressor loci associated with Wilms' tumour, retinoblastoma, and meningioma. It is suggested that the somatic instability of ring chromosomes may play a role in this association and that constitutional ring chromosomes may be a source for mapping of tumour suppressor loci with the potential for covering most or all of the human genome. The hypothesis predicts the presence of a locus on chromosome 10 associated with follicular carcinoma of the thyroid, in line with previous cytogenetic findings of rearrangements involving chromosome 10 in thyroid tumours, and a locus on chromosome 22 associated with testicular cancer. Development of neurofibromatoses (NF) that do not fulfil the clinical criteria of neurofibromatosis type 2 (NF2) in carriers with r(22) suggests either the presence of an additional NF locus on chromosome 22 or that ring chromosome mediated predisposition to somatic mutation of a specific tumour suppressor may be associated with atypical development of features usually associated with germline mutations.

MeSH Terms
Adenocarcinoma/genetics Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 22 Genes, Tumor Suppressor Humans Male Mosaicism Mutation Neurofibromatoses/genetics Ring Chromosomes Testicular Neoplasms/genetics Thyroid Neoplasms/genetics Wilms Tumor/genetics
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Tommerup N
Danish Centre for Human Genome Research, John F Kennedy Institute, Glostrup, Denmark.
Lothe R
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.29.12.879
Published
1992-12-00
Pages
879-82
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1016205
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.29.12.879 PMC Full Text View journal details
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