{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T17:21:40Z","timestamp":1763140900726,"version":"3.37.3"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,11,23]],"date-time":"2016-11-23T00:00:00Z","timestamp":1479859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Middle East Cancer Consortium"},{"name":"Telethon Cyprus"},{"DOI":"10.13039\/501100001810","name":"Cyprus Research Promotion Foundation","doi-asserted-by":"crossref","award":["PENEK 0603\/12"],"award-info":[{"award-number":["PENEK 0603\/12"]}],"id":[{"id":"10.13039\/501100001810","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The Cyprus Association of Cancer Patients and Friends"},{"name":"The Cyprus Anti-Cancer Society"},{"name":"Europa Donna Cyprus"},{"name":"Ministry of Health of the Republic of Cyprus"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:p>This paper presents the largest study in Cyprus evaluating the frequency and distribution of <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content><\/jats:italic>\/<jats:italic>2<\/jats:italic> mutations in a high risk patient cohort. Deleterious mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content><\/jats:italic>\/<jats:italic>2<\/jats:italic> genes were identified in 68 of the 527 patients tested (13%). It is of interest that a quarter of those tested positive, did not have an extensive family history of breast\/ovarian cancer but were diagnosed with early onset breast cancer, ovarian cancer under the age of 60 or triple negative breast cancer. The spectrum of mutations identified in our patient cohort is different compared to other Mediterranean countries. Furthermore, several of the mutations detected are novel and have not been identified in other ethnic populations. This highlights the importance of operating a national reference center for cancer genetic diagnosis which offers services tailored to the needs of the Cypriot population.<\/jats:p>","DOI":"10.1111\/cge.12886","type":"journal-article","created":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T02:25:58Z","timestamp":1476411958000},"page":"611-615","source":"Crossref","is-referenced-by-count":8,"title":["<i><scp>BRCA1<\/scp><\/i> and <i><scp>BRCA2<\/scp><\/i> mutation testing in Cyprus; a population based study"],"prefix":"10.1111","volume":"91","author":[{"given":"M.A.","family":"Loizidou","sequence":"first","affiliation":[{"name":"Department of Electron Microscopy\/Molecular Pathology The Cyprus Institute of Neurology and Genetics  Nicosia Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Hadjisavvas","sequence":"additional","affiliation":[{"name":"Department of Electron Microscopy\/Molecular Pathology The Cyprus Institute of Neurology and 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