Implications of a novel cryptic splice site in the BRCA1 gene

Autor:	J D, Hoffman, S E, Hallam, V L, Venne, E, Lyon, K, Ward
Rok vydání:	1998
Předmět:	Male DNA Complementary Base Sequence Reverse Transcriptase Polymerase Chain Reaction Neoplasms RNA Splicing Genes BRCA1 Humans Nucleic Acid Hybridization Female Pedigree
Zdroj:	American journal of medical genetics. 80(2)
ISSN:	0148-7299
Popis:	This study was designed to determine the significance of a single intronic base change (IVS5-12 G--A) found in a family with a history of breast cancer. This change is predicted to form a cryptic splice site resulting in the addition of 11 nucleotides to the BRCA1 transcript. The BRCA1 gene of the relatives and control individuals was sequenced and analyzed using RT-PCR, ASO hybridization, and size fractionation. All patients showed an 11 nucleotide insert at the intron 5/exon 6 boundary. This variant is likely to form a short protein product incapable of the hypothesized tumor suppressor functions of the BRCA1 gene. This information is important for providing counseling for families with this cryptic splice site and a family history of breast cancer.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::26910a37e6d25323d704c43ea97def21 https://pubmed.ncbi.nlm.nih.gov/9805131 Zobrazit plný text záznamu Plný text