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Article

Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer.

Oncogene - 1 Jan 1994

Jolly K W, Malkin D, Douglass E C, Brown T F, Sinclair A E, Look A T

Abstract excerpt

Germline mutations within evolutionary conserved exons of the p53 gene predispose to tumor development in several familial cancer syndromes. We now report identification of a novel p53 mutation affecting the splice acceptor site of exon 6 in the germline DNA of a family with hereditary breast-ovarian cancer. This splice-site mutation, which results in omission of exon 6 and creates a frame-shift and premature...

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Identifiers

PMID: 8302608

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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