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Article

A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism.

Mutation research - 1 Aug 1999

Pyne M T, Pruss D, Ward B E, Scholl T

Abstract excerpt

The biochemical and genetic characterizations of two variants that occur in BRCA1 intron 8 are presented. The variant IVS8+2T-->C induces an aberrant transcript that deletes exon 8. This exon-skipping deletion disrupts the open reading frame by juxtaposing exon 7 and exon 9 in the aberrant splice product. Theoretically, 50 abnormal residues from reading frame 2 are translated following exon 7 before a stop codon...

Read the complete abstract on PubMed

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Share to BRCA1 Protein
Share to Breast Neoplasms
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to RNA, Neoplasm

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Source

Identifiers

PMID: 10479726
DOI: 10.1016/s1383-5726(99)00006-0

Genes

AGT
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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