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Implications of a novel cryptic splice site in the BRCA1 gene

✍ Scribed by Hoffman, Jodi D.; Hallam, Stephanie E.; Venne, Vickie L.; Lyon, Elaine; Ward, Kenneth

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 25 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:2<140::aid-ajmg10>3.0.co;2-l

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✦ Synopsis

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. Am.

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