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Article

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

BMC medical genetics - 2 Jul 2008

Hansen Thomas V O, Bisgaard Marie Luise, Jønson Lars, Albrechtsen Anders, Filtenborg-Barnkob Bettina, Eiberg Hans, Ejlertsen Bent, Nielsen Finn C

Abstract excerpt

BACKGROUND: BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered. We describe the parental origin and functional characterization of a novel de novo BRCA2 splice site mutation found in a patient exh...

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Share to Breast Neoplasms
Share to Carcinoma, Ductal, Breast
Share to Genes, BRCA2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neoplasms, Hormone-Dependent

Share to Oligonucleotide Array Sequence Analysis

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Share to Polymorphism, Single Nucleotide

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 18597679
DOI: 10.1186/1471-2350-9-58
PMCID: PMC2478678

Genes

BRCA2
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18597679-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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