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Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.

Breast cancer research and treatment - 1 Jan 2006

Gallardo Marcela, Silva Antonia, Rubio Lorena, Alvarez Carolina, Torrealba Carolina, Salinas Mauricio, Tapia Teresa, Faundez Paola, Palma Lorena, Riccio María Eugenia, Paredes Hernando, Rodriguez Mario, Cruz Adolfo, Rousseau Christine, King Mary Claire, Camus Mauricio, Alvarez Manuel, Carvallo Pilar

Abstract excerpt

Our aim was to analyze the incidence of mutations in BRCA1 and BRCA2 genes in 54 families with breast/ovarian cancer. Families were selected from three Institutions following the standard criteria for hereditary breast/ovarian cancer. PCR amplification of all exons was performed, followed by SSCP, heteroduplex, PTT and sequencing analysis. We identified eight truncation mutations, three in the BRCA1 gene and five...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16261400
DOI: 10.1007/s10549-005-9047-1

Genes

BRCA1
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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