Mutational analysis of the NM23.H1 gene in human breast cancer. 2000

G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
Department of Oncology, Division of Pathology, Laboratory of Molecular Genetics, University of Pisa, Pisa, Italy.

NM23.H1 is a protein connected with tumor progression. Loss of heterozygosity and reduced expression of the gene have been associated with poor prognosis and increased incidence of metastases in many epithelial tumors. The aim of this study was to detect the presence of NM23.H1 point mutations or small deletions in human breast carcinomas by using the single-strand-conformation polymorphism (SSCP) technique. Mutational analysis was performed on 76 breast tumors, 10 of which had allelic deletion of the gene. The NM23.H1 mRNA content also was evaluated in each sample. Only a C-to-A transversion leading to a stop codon was found in the 5' untranslated region of exon 1. A polymorphic SSCP pattern was identified in exon 1; direct sequencing showed a C-to-T transition 30 nucleotides upstream from the 5' splice site flanking exon 1. None of the tumors analyzed presented both alleles inactivated. Our results suggest that NM23.H1 is rarely inactivated by point mutations.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009701 Nucleoside-Diphosphate Kinase An enzyme that is found in mitochondria and in the soluble cytoplasm of cells. It catalyzes reversible reactions of a nucleoside triphosphate, e.g., ATP, with a nucleoside diphosphate, e.g., UDP, to form ADP and UTP. Many nucleoside diphosphates can act as acceptor, while many ribo- and deoxyribonucleoside triphosphates can act as donor. EC 2.7.4.6. Deoxynucleoside Diphosphate Kinases,GDP Kinase,Nucleoside Diphosphokinases,Nucleoside-Diphosphate Kinases,Diphosphate Kinases, Deoxynucleoside,Diphosphokinases, Nucleoside,Kinase, GDP,Kinase, Nucleoside-Diphosphate,Kinases, Deoxynucleoside Diphosphate,Kinases, Nucleoside-Diphosphate,Nucleoside Diphosphate Kinase,Nucleoside Diphosphate Kinases
D001943 Breast Neoplasms Tumors or cancer of the human BREAST. Breast Cancer,Breast Tumors,Cancer of Breast,Breast Carcinoma,Cancer of the Breast,Human Mammary Carcinoma,Malignant Neoplasm of Breast,Malignant Tumor of Breast,Mammary Cancer,Mammary Carcinoma, Human,Mammary Neoplasm, Human,Mammary Neoplasms, Human,Neoplasms, Breast,Tumors, Breast,Breast Carcinomas,Breast Malignant Neoplasm,Breast Malignant Neoplasms,Breast Malignant Tumor,Breast Malignant Tumors,Breast Neoplasm,Breast Tumor,Cancer, Breast,Cancer, Mammary,Cancers, Mammary,Carcinoma, Breast,Carcinoma, Human Mammary,Carcinomas, Breast,Carcinomas, Human Mammary,Human Mammary Carcinomas,Human Mammary Neoplasm,Human Mammary Neoplasms,Mammary Cancers,Mammary Carcinomas, Human,Neoplasm, Breast,Neoplasm, Human Mammary,Neoplasms, Human Mammary,Tumor, Breast
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012333 RNA, Messenger RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. Messenger RNA,Messenger RNA, Polyadenylated,Poly(A) Tail,Poly(A)+ RNA,Poly(A)+ mRNA,RNA, Messenger, Polyadenylated,RNA, Polyadenylated,mRNA,mRNA, Non-Polyadenylated,mRNA, Polyadenylated,Non-Polyadenylated mRNA,Poly(A) RNA,Polyadenylated mRNA,Non Polyadenylated mRNA,Polyadenylated Messenger RNA,Polyadenylated RNA,RNA, Polyadenylated Messenger,mRNA, Non Polyadenylated
D014157 Transcription Factors Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process. Transcription Factor,Factor, Transcription,Factors, Transcription
D054778 NM23 Nucleoside Diphosphate Kinases A family of nucleotide diphosphate kinases that play a role in a variety of cellular signaling pathways that effect CELL DIFFERENTIATION; CELL PROLIFERATION; and APOPTOSIS. They are considered multifunctional proteins that interact with a variety of cellular proteins and have functions that are unrelated to their enzyme activity. Nucleoside Diphosphate Kinase A,DR-NM23 Nucleoside Diphosphate Kinase,Expressed in Non-Metastatic Cells 2 Protein,Granzyme A-activated DNase,NDP Kinase A,NM23-H2 Nucleoside Diphosphate Kinase,NM23-H3 Nucleoside Diphosphate Kinase,NM23A Nucleoside Diphosphate Kinases,NM23B Nucleoside Diphosphate Kinase,NME1 Nucleoside Diphosphate Kinase,Nm23-H1 Nucleoside Diphosphate Kinase,Non-Metastatic Cells 1 Protein,Nucleoside Diphosphate Kinase 3,Nucleoside Diphosphate Kinase B,Nucleoside Diphosphate Kinase C,Tumor Metastatic Process-Associated Protein,DR NM23 Nucleoside Diphosphate Kinase,Expressed in Non Metastatic Cells 2 Protein,Granzyme A activated DNase,NM23 H2 Nucleoside Diphosphate Kinase,NM23 H3 Nucleoside Diphosphate Kinase,Nm23 H1 Nucleoside Diphosphate Kinase,Non Metastatic Cells 1 Protein,Tumor Metastatic Process Associated Protein
D018807 Polymorphism, Single-Stranded Conformational Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels. SSCP,Single-Stranded Conformational Polymorphism,Conformational Polymorphism, Single-Stranded,Conformational Polymorphisms, Single-Stranded,Polymorphism, Single Stranded Conformational,Polymorphisms, Single-Stranded Conformational,Single Stranded Conformational Polymorphism,Single-Stranded Conformational Polymorphisms
D019656 Loss of Heterozygosity The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted. Allelic Loss,Heterozygosity, Loss of,Allelic Losses,Heterozygosity Loss

Related Publications

G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
June 2000, Zhongguo fei ai za zhi = Chinese journal of lung cancer,
G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
January 1996, Oncology reports,
G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
December 1994, British journal of cancer,
G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
January 1998, Anticancer research,
G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
January 1998, Oncology,
G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
July 2004, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences,
G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
October 1990, Pathologie-biologie,
G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
July 1999, Zhonghua yi xue za zhi = Chinese medical journal; Free China ed,
G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
February 1997, Chinese medical journal,
G Cipollini, and A Moretti, and C Ghimenti, and P Viacava, and G Bevilacqua, and M A Caligo
January 2007, In vivo (Athens, Greece),
Copied contents to your clipboard!