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Article

A novel BRCA2 mutation that segregates with breast and prostate cancer in a Spanish family.

Breast cancer research and treatment - 1 May 2010

Salgado Josefa, Aramendía José M, Gutierrez Cristina, Gil Carmen, Robles Maitane, García-Foncillas Jesús

Abstract excerpt

We report a novel germline 5369delATTT mutation in BRCA2 gene, detected in a 45-year-old woman with bilateral breast cancer. This deletion was also detected in her father with prostatic cancer and her sister with breast cancer. The mutation originates a premature stop at codon 1723 of BRCA2 protein and has not been documented in any published report to the best of our knowledge.

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Source

Identifiers

PMID: 19288190
DOI: 10.1007/s10549-009-0361-x

Genes

BRCA2

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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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