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

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 o...

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Bibliographic Details
Published in:Clinical genetics 2014-01, Vol.85 (1), p.36-42
Main Authors: Konstantopoulou, I, Tsitlaidou, M, Fostira, F, Pertesi, M, Stavropoulou, A-V, Triantafyllidou, O, Tsotra, E, Tsiftsoglou, AP, Tsionou, C, Droufakou, S, Dimitrakakis, C, Fountzilas, G, Yannoukakos, D
Format: Article
Language:English
Subjects:
BRCA1
BRCA1 protein
BRCA2
Breast cancer
Female
Founder Effect
Genes, BRCA1
Genes, BRCA2
Genotype & phenotype
Germ-Line Mutation
germline mutation
Greece
Greece - epidemiology
Hereditary Breast and Ovarian Cancer Syndrome - epidemiology
Hereditary Breast and Ovarian Cancer Syndrome - genetics
Heterozygote
Humans
Male
Mutation
Mutation Rate
Ovarian cancer
Polymorphism, Genetic
Prevalence
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Summary: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 deletions. Of the 44 different deleterious mutations found in both genes, 16 are novel and reported here for the first time. Correlation with available histopathology data showed that 80% of BRCA1 carriers presented a triple‐negative breast cancer phenotype while 82% of BRCA2 carriers had oestrogen receptor positive tumours. This study provides a comprehensive view of the frequency, type and distribution of BRCA1/2 mutations in the Greek population as well as an insight of the screening strategy of choice for patients of Greek origin. We conclude that the Greek population has a diverse mutation spectrum influenced by strong founder effects.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12274