Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses

Vries, Ellen M.G. De; Ricke, Darrell O.; Vries, Thomas N. De; Hartmann, Arndt; Blaszyk, Hagen; Liao, Dongzhou; Soussi, Thierry; Kovach, John S.; Sommer, Steve S.

doi:10.1002/(sici)1098-1004(1996)7:3<202::aid-humu4>3.3.co;2-5

Cited by 15 publications

(19 citation statements)

References 11 publications

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“…Genetic variants of DNA-dependent protein kinase that is involved in DNA double-stranded break repair and modulation of transcription are associated with severe combined immunodeficiency, type I [13]. Additionally, defects in TP53 cause different malignomes as germ line cancers and Barrett adenocarcinomas [9,16], and deficiency in AHCY is one cause of hypermethioninemia [8].…”

Section: Discussionmentioning

confidence: 99%

Application of disease-associated differentially expressed genes – Mining for functional candidate genes for mastitis resistance in cattle

Schwerin¹,

Czernek-Schäfer²,

Goldammer³

et al. 2003

Genet. Sel. Evol.

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-In this study the mRNA differential display method was applied to identify mastitisassociated expressed DNA sequences based on different expression patterns in mammary gland samples of non-infected and infected udder quarters of a cow. In total, 704 different cDNA bands were displayed in both udder samples. Five hundred-and-thirty two bands, (75.6%) were differentially displayed. Ninety prominent cDNA bands were isolated, re-amplified, cloned and sequenced resulting in 87 different sequences. Amongst the 19 expressed sequence tags showing a similarity with previously described genes, the majority of these sequences exhibited homology to protein kinase encoding genes (26.3%), to genes involved in the regulation of gene expression (26.3%), to growth and differentiation factor encoding genes (21.0%) and to immune response or inflammation marker encoding genes (21.0%). These sequences were shown to have mastitis-associated expression in the udder samples of animals with and without clinical mastitis by quantitative RT-PCR. They were mapped physically using a bovine-hamster somatic cell hybrid panel and a 5000 rad bovine whole genome radiation hybrid panel. According to their localization in QTL regions based on an established integrated marker/gene-map and their disease-associated expression, four genes (AHCY, PRKDC, HNRPU, OSTF1) were suggested as potentially involved in mastitis defense. mastitis / expressed sequence tag / gene expression / cattle / RH mapping

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Section: Discussionmentioning

confidence: 99%

Application of disease-associated differentially expressed genes – Mining for functional candidate genes for mastitis resistance in cattle

Schwerin¹,

Czernek-Schäfer²,

Goldammer³

et al. 2003

Genet. Sel. Evol.

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“…Owing to the cyclic nature of proline, the replacement of alanine by proline may have profound consequences on the protein structure. No polymorphisms have been described for codon 138 (De Vries et al, 1996). A different germline mutation of this codon, GCC to TCC, replacing alanine by serine, was described in a family with gliosarcoma and nonHodgkin's lymphoma (Kyritsis et al, 1994).…”

Section: Analysis Of Tumoursmentioning

confidence: 99%

“…A different germline mutation of this codon, GCC to TCC, replacing alanine by serine, was described in a family with gliosarcoma and nonHodgkin's lymphoma (Kyritsis et al, 1994). The databases of somatic p53 mutations in tumours list 13 tumours with missense codon 138 mutations, five of which are identical with the mutation seen in family A (De Vries et al, 1996;Hollstein et al, 1996). In family A itself, the mutation segregates with cancer susceptibility, and two tumours analysed show loss of the wild-type allele while retaining the mutant allele.…”

Section: Analysis Of Tumoursmentioning

confidence: 99%

“…The deletion in codon 178 occurs in a contiguous stretch of five C nucleotides, which represents one of the hot spots for somatic insertiondeletion mutations in p53 . An identical mutation also plays a role in sporadic cancer and was reported as a British Journal of Cancer (1998) 77(7) somatic mutation in ten different tumours (De Vries et al, 1996;Hollstein et al, 1996). Translation of the mutant allele can give rise to a truncated protein.…”

Section: Analysis Of Tumoursmentioning

confidence: 99%

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Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours

Sedláček

Kodet²,

Křı́ž³

et al. 1998

Br J Cancer

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Summary We describe two Li-Fraumeni syndrome families. Family A was remarkable for two early childhood cases of adrenocortical tumours, family B for a high incidence of many characteristic cancers, including a childhood case of choroid plexus tumour. Using direct sequencing, we analysed exons 5-9 of the p53 gene in constitutional DNA of individuals from both families and found two novel germline mutations in exon 5. In family A, we detected a point substitution in codon 138 (GCC to CCC), which resulted in the replacement of the alanine by a proline residue. Family B harboured a single-base pair deletion in codon 178 (CAC to -AC), resulting in a frameshift and premature chain termination. Three out of six tumours examined from both families, a renal cell carcinoma, a rhabdomyosarcoma and a breast cancer, showed loss of heterozygosity and contained only the mutant p53 allele. The remaining three neoplasms, both adrenocortical tumours and the choroid plexus tumour retained heterozygosity. Immunohistochemistry with anti-p53 antibody confirmed accumulation of p53 protein in tumours with loss of heterozygosity, while the remaining tumours were p53 negative. These results support the view that complete loss of activity of the wild-type p53 need not be the initial event in the formation of all tumours in Li-Fraumeni individuals.

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“…We will localize the mutations to determine whether they occur preferentially in specific sites of the DNA and to compare them to known mutations listed in p53 mutation banks (6)(7)(8)(9). We also propose to compare mutations detected in the cancers with those detected in their preceeding benign breast tissue samples.…”

Section: Introductionmentioning

confidence: 99%

Are p53 Mutations Associated With Increased Risk of Developing Breast Cancer? A Molecular Epidermiological Study

Kandel¹

2003

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Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses

Cited by 15 publications

References 11 publications

Application of disease-associated differentially expressed genes – Mining for functional candidate genes for mastitis resistance in cattle

Application of disease-associated differentially expressed genes – Mining for functional candidate genes for mastitis resistance in cattle

Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours

Are p53 Mutations Associated With Increased Risk of Developing Breast Cancer? A Molecular Epidermiological Study

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