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Article

BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer.

Breast cancer research and treatment - 1 Jan 2009

Martin S Eric, Sausen Mark, Joseph Abraham, Biggs David D, Kingham Brewster F, Martin Eric S

Abstract excerpt

An African American individual with early onset breast cancer has a unique BRCA1 germline mutation, E1644X, that truncates the protein's carboxy terminal region. DNA sequencing for E1644X mutation and five BRCA1 exon-11 single nucleotide polymorphisms showed tumor LOH. Clinical history suggests paternal transmission of the deleterious allele, and tumor polymorphisms provide some insight into the ancestral origins...

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Source

Identifiers

PMID: 18311584
DOI: 10.1007/s10549-008-9928-1

Genes

BRCA1

Variants

Provenance

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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