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Related Experiment Video

Updated: Mar 11, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

BRCA1 and BRCA2 mutation testing in Cyprus; a population based study.

M A Loizidou¹, A Hadjisavvas^1,2, P Pirpa¹

¹Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia Cyprus.

Clinical Genetics

|November 25, 2016

Summary

This summary is machine-generated.

This study found 13% of high-risk Cypriot patients carry BRCA1/2 mutations. Novel mutations were identified, emphasizing the need for a national cancer genetic diagnostic center tailored to Cyprus.

Keywords:

BRCA breast cancer genetic testing ovarian cancer predisposition

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Last Updated: Mar 11, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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Area of Science:

Genetics
Oncology
Molecular Biology

Background:

BRCA1/2 gene mutations are linked to hereditary breast and ovarian cancers.
Understanding mutation prevalence is crucial for genetic counseling and targeted therapies.
Previous studies on BRCA1/2 mutations in Cyprus are limited.

Purpose of the Study:

To determine the frequency and distribution of BRCA1/2 mutations in a high-risk Cypriot cohort.
To compare mutation spectrum with other Mediterranean populations.
To identify novel mutations within the Cypriot population.

Main Methods:

Genetic testing for BRCA1/2 mutations in 527 high-risk patients.
Analysis of mutation spectrum and distribution.
Comparison with international and regional mutation data.

Main Results:

Deleterious BRCA1/2 mutations were found in 13% (68/527) of patients.
A significant proportion of positive cases lacked extensive family cancer history.
Identified mutations differ from other Mediterranean populations; some are novel.

Conclusions:

The study highlights a unique BRCA1/2 mutation profile in Cyprus.
Early onset breast cancer, ovarian cancer, and triple-negative breast cancer patients warrant genetic screening.
A national reference center for cancer genetic diagnosis is essential for the Cypriot population.