Constitutional ring chromosomes and tumour suppressor genes. 1992

N Tommerup, and R Lothe
Danish Centre for Human Genome Research, John F Kennedy Institute, Glostrup, Denmark.

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.

UI MeSH Term Description Entries
D008297 Male Males
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009396 Wilms Tumor A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN. Bilateral Wilms Tumor,Nephroblastoma,Wilms Tumor 1,Wilms' Tumor,Nephroblastomas,Tumor, Bilateral Wilms,Tumor, Wilms,Tumor, Wilms',Wilm Tumor,Wilm's Tumor,Wilms Tumor, Bilateral
D002879 Chromosomes, Human, Pair 10 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 10
D002880 Chromosomes, Human, Pair 11 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 11
D002882 Chromosomes, Human, Pair 13 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 13
D002886 Chromosomes, Human, Pair 17 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 17
D002892 Chromosomes, Human, Pair 22 A specific pair of GROUP G CHROMOSOMES of the human chromosome classification. Chromosome 22
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

N Tommerup, and R Lothe
January 2009, Journal of the Association of Genetic Technologists,
N Tommerup, and R Lothe
May 1989, BMJ (Clinical research ed.),
N Tommerup, and R Lothe
January 1988, Journal of cell science. Supplement,
N Tommerup, and R Lothe
May 2000, Clinical and experimental dermatology,
N Tommerup, and R Lothe
November 1992, Annals of oncology : official journal of the European Society for Medical Oncology,
N Tommerup, and R Lothe
June 1995, Human & experimental toxicology,
N Tommerup, and R Lothe
October 1999, Bailliere's best practice & research. Clinical endocrinology & metabolism,
N Tommerup, and R Lothe
January 1993, Journal of gastroenterology and hepatology,
N Tommerup, and R Lothe
March 1993, Philosophical transactions of the Royal Society of London. Series B, Biological sciences,
Copied contents to your clipboard!