We examined t h e frequency of cyclin-dependent kinase (CDK) N2 alterations in differentiated and anaplastic thyroid cancers t o assess the involvement of CDKNZ in the development of these cancers. The CDKNZ gene, which encodes the cell-cycle regulator p16, was recently shown t o be mutated or delet
Loh and mutation analysis of CDKN2 in primary human ovarian cancers
โ Scribed by Ian G. Campbell; Gareth Beynon; Michael Davis; Pat Englefield
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- French
- Weight
- 735 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0020-7136
No coin nor oath required. For personal study only.
โฆ Synopsis
The CDKNZ gene encodes a cell cycle regulatory protein and is located on chromosome 9 ~2 1 , a region deleted in a wide variety of primary tumours. While mutations in the CDKNZ gene itself are frequently observed in tumour cell lines, they are less common in primary turnouts. We have investigated the role of the CDKNZ gene in ovarian cancer by analysis for allelic loss of 9p2 I and single-strand conformational polymorphism analysis of exons I and 2 of CDKNZ in 67 primary ovarian tumoun. Loss of heterozygosity on 9p2I was frequently observed (24/50 informative tumoun) and was common in early-stage tumours, suggesting that it is an early event in ovarian tumorigenesis. Homozygous deletion of the CDKNZ gene was detected in only I tumour. No somatic or germline mutations were observed in CDKNZ, though a codon 140 polymorphism was detected in 2 cases. This suggests that CDKNZ is not involved in ovarian tumorigenesis and that another gene(s) may be the target of the frequent 9p allelic losses observed.
ici 199s Wiley-Liss. Inc.
๐ SIMILAR VOLUMES
The tumor suppressor gene CDKN2 (p16/MTS1) resides on chromosome 9p21 and encodes a 16 kDa inhibitor of the cyclin-dependent kinases. Inactivation of CDKN2 by homozygous deletion, point mutation, and recently described aberrant methylation in the 5' promoter region may increase progression through t
## Abstract Several pathways have been implicated in the pathogenesis of endometrial carcinoma. Based on recent reports, __BRAF__ mutations provide an alternative route for activation of the RAS signalling pathway. The __CDKN2A (p16)__ tumour suppressor gene is also altered in several tumour types.
Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of
There is strong evidence that overtly inactivating mutations in RAD51C predispose to hereditary breast and ovarian cancer but the prevalence of such mutations, and whether they are associated with a particular clinical phenotype, remains unclear. Resolving these questions has important implications