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Article

Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot.

American journal of human genetics - 1 Apr 2002

Puget Nadine, Gad Sophie, Perrin-Vidoz Laure, Sinilnikova Olga M, Stoppa-Lyonnet Dominique, Lenoir Gilbert M, Mazoyer Sylvie

Abstract excerpt

The 5' end of the breast and ovarian cancer-susceptibility gene BRCA1 has previously been shown to lie within a duplicated region of chromosome band 17q21. The duplicated region contains BRCA1 exons 1A, 1B, and 2 and their surrounding introns; as a result, a BRCA1 pseudogene (PsiBRCA1) lies upstream of BRCA1. However, the sequence of this segment remained essentially unknown. We needed this information to...

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Share to Chromosome Breakage
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to Genes, BRCA1

Share to Germ-Line Mutation

Share to Pseudogenes

Share to Regulatory Sequences, Nucleic Acid

Share to Tandem Repeat Sequences

Source

Open in PubMed Open full text

Identifiers

PMID: 11880951
DOI: 10.1086/339434
PMCID: PMC379114

Genes

BRCA1

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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