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Article

Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2.

Breast cancer research and treatment - 1 Aug 2010

Salgado Josefa, Gutiérrez Cristina, Gil Carmen, Robles Maitane, García-Foncillas Jesús

Abstract excerpt

We report a novel germline 490delCT mutation in BRCA2 gene, detected in a 38-year-old woman with breast cancer. The mutation originates a premature stop at codon 99, leading to a truncated protein, and has not been documented in any published report to the best of our knowledge.

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Source

Identifiers

PMID: 20151322
DOI: 10.1007/s10549-010-0776-4

Genes

BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20151322-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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