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Article

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

Clinical genetics - 1 Jan 2014

Konstantopoulou I, Tsitlaidou M, Fostira F, Pertesi M, Stavropoulou A-V, Triantafyllidou O, Tsotra E, Tsiftsoglou A P, Tsionou C, Droufakou S, Dimitrakakis C, Fountzilas G, Yannoukakos D

Abstract excerpt

We have screened 473 breast/ovarian cancer patients with family history, aiming to define the prevalence and enrich the spectrum of BRCA1/2 pathogenic mutations occurring in the Greek population. An overall mutation prevalence of 32% was observed. Six BRCA1 recurrent/founder mutations dominate the observed spectrum (58.5% of all mutations found). These include three mutations in exon 20 and three large genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24010542
DOI: 10.1111/cge.12274

Genes

BRCA1
BRCA2

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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