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Article

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.

Oncotarget - 4 Apr 2017

Zuntini Roberta, Cortesi Laura, Calistri Daniele, Pippucci Tommaso, Martelli Pier Luigi, Casadio Rita, Capizzi Elisa, Santini Donatella, Miccoli Sara, Medici Veronica, Danesi Rita, Marchi Isabella, Zampiga Valentina, Fiorentino Michelangelo, Ferrari Simona, Turchetti Daniela

Abstract excerpt

We have investigated the clinical significance of the BRCA1 variant p.His1673del in 14 families from the Emilia-Romagna region of Italy, including 20 breast and 23 ovarian cancer cases; four families displayed site-specific ovarian cancer.The variant, absent in human variation databases, has been reported three times in BRCA1 specific databases; all probands shared the same rare haplotype at the BRCA1 locus,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28186987
DOI: 10.18632/oncotarget.15151
PMCID: PMC5410251

Genes

BRCA1
BARD1

Variants

Provenance

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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