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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-ova...

Topics

Adolescent
Adult
Alleles
Amino Acid Sequence
Base Sequence
Breast Neoplasms
Child
Female
Genes, p53
Humans
Infant
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Ovarian Neoplasms

Pedigree

RNA Splicing

Source

Identifiers

PMID: 8302608

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8302608-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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