A change in the last base of BRCA1 exon 23, 5586G→A, results in abnormal RNA splicing

Cancer Genetics and Cytogenetics

Volumn 134, Issue 2, 2002, Pages 175-177

  Ladopoulou, Angela ^a   Konstantopoulou, Irene ^a   Armaou, Sofia ^a   Efstathiou, Eleni ^b   Mihalatos, Markos ^c   Nasioulas, George ^c   Bardi, Georgia ^d   Pandis, Nikos ^d   Yannoukakos, Drakoulis ^a  

^a INSTITUTE OF NANOSCIENCE AND NANOTECHNOLOGY   (Greece)

^b ALEXANDRA HOSPITAL   (Greece)

^c Molecular Biology Department   (Greece)

^d SAINT SAVVAS HOSPITAL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; DNA; GENOMIC DNA; PROTEIN; RNA;

AMINO ACID SEQUENCE; BLOOD CELL; BREAST CARCINOMA; CANCER GROWTH; CELL LINE; CODING; DNA DETERMINATION; DNA SEQUENCE; EXON; GENE DELETION; GENE INSERTION; GENETIC COUNSELING; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOME ANALYSIS; LETTER; LYMPHOCYTE; MEDICAL INFORMATION; MISSENSE MUTATION; MUTATION; NONSENSE MUTATION; OPEN READING FRAME; OVARY CARCINOMA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVERSE TRANSCRIPTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING; SEQUENCE ANALYSIS; STOP CODON; TUMOR SUPPRESSOR GENE;

ADENINE; ALTERNATIVE SPLICING; BASE SEQUENCE; EXONS; FEMALE; GENES, BRCA1; GUANINE; HUMANS; MOLECULAR SEQUENCE DATA; POINT MUTATION; RNA, MESSENGER;

INSERTION SEQUENCES;

EID: 0037089488     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-4608(01)00623-9     Document Type: Letter

References (13)

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5. A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation
6. A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism
7. BRCA1 IVS16+6T→C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site
8. A BRCA1 variant, IVS23+1G→A, causes abnormal RNA splicing by deleting exon 23
9. Classification of IVS1-10T→C as a polymorphism of BRCA1
10. The breast cancer information core: Database design, structure, and scope
11. Construction of a novel database containing aberrant splicing mutations of mammalian genes
12. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
13. BRCA1 mutation analysis in breast/ovarian cancer families from Greece