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Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome.

Cancer genetics and cytogenetics - 1 Jul 2008

da Costa E C B, Vargas F R, Moreira A S, Lourenço J J, Caleffi M, Ashton-Prolla P, Martins Moreira M A M

Abstract excerpt

The 5382insC mutation in BRCA1 is a frequently reported mutation, being very prevalent in Central and Eastern Europe. This mutation was recurrently reported in Brazil and one case was reported Portugal, but not in Spain and other South-American countries,. We analyzed the haplotypic profile of seven Brazilian carriers of 5382insC to characterize a possible founder effect. The analyses indicated that mutation...

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Source

Identifiers

PMID: 18558292
DOI: 10.1016/j.cancergencyto.2008.03.011

Genes

BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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