{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T02:42:24Z","timestamp":1761619344763},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,1,8]],"date-time":"2007-01-08T00:00:00Z","timestamp":1168214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:p>In Cyprus, the prevalence of breast cancer associated with BRCA1 and BRCA2 mutations in young women is unknown. In this study, we present the results of mutational analysis of the BRCA1 and BRCA2 genes in 26 Cypriot women diagnosed with breast cancer by the age of 40. The entire coding regions, including splice sites, of the BRCA1 and BRCA2 genes were sequenced using cycle sequencing. We identified four pathogenic mutations: two in BRCA1 [c.1840A&gt;T (K614X), c.5310delG (5429delG)] and two in BRCA2 [c.3531\u20103534delCAGC (3758del4), c.8755delG (8984delG)] in six of 26 unrelated patients. The BRCA2 mutation c.3531\u20103534delCAGC (3758del4) is novel and the BRCA1 mutation c.1840A&gt;T (K614X) is reported for the first time in Cypriot patients. The BRCA2 Cypriot founder mutation c.8755delG (8984delG) was detected in three unrelated patients. Additionally, we identified one novel BRCA1 missense mutation, two novel polymorphisms and three novel intronic variants of which BRCA1 c.4185+3A&gt;G (IVS12+3A&gt;G) may be pathogenic. Of the six BRCA1\/2 mutation carriers, only four had a family history. These results show that the prevalence of BRCA1 and BRCA2 mutations in Cypriot women diagnosed with early\u2010onset breast cancer is high. We conclude that Cypriot women with early\u2010onset breast cancer should be offered BRCA1\/2 testing irrespective of their family history.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00747.x","type":"journal-article","created":{"date-parts":[[2007,1,8]],"date-time":"2007-01-08T09:31:22Z","timestamp":1168248682000},"page":"165-170","source":"Crossref","is-referenced-by-count":28,"title":["Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early\u2010onset breast cancer in Cyprus"],"prefix":"10.1111","volume":"71","author":[{"given":"M","family":"Loizidou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Marcou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Anastasiadou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Newbold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Hadjisavvas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Kyriacou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,1,23]]},"reference":[{"issue":"2","key":"e_1_2_6_2_2","first-page":"74","article-title":"CA Cancer J Clin","volume":"55","author":"Parkin DM","year":"2005","journal-title":"Global Cancer Statistics, 2002"},{"key":"e_1_2_6_3_2","volume-title":"Cyprus Cancer Registry"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7545954"},{"key":"e_1_2_6_5_2","first-page":"789","volume-title":"Nature","author":"Wooster R","year":"1995"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(96)90017-9"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genet.32.1.95"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.1998.16.5.1642"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-126"},{"key":"e_1_2_6_10_2","first-page":"505","article-title":"The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early\u2010onset breast cancer patients among Ashkenazi women","volume":"60","author":"Abeliovich D","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_11_2","first-page":"3663","article-title":"High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients","volume":"56","author":"Johannesdottir G","year":"1996","journal-title":"Cancer Res"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.10.882"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199601183340301"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.11.943"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.2000.1407"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0142(20000315)88:6<1393::AID-CNCR17>3.0.CO;2-P"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200988"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2003.09.020"},{"key":"e_1_2_6_19_2","unstructured":"Breast Cancer Information Core Database (BIC). Retrieved November 8 2006 fromhttp:\/\/www.nchgr.nih.gov\/Intramural_research\/Lab_transfer\/Bic."},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1089\/10906570260199375"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-4-9"},{"issue":"2","key":"e_1_2_6_22_2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1158\/0008-5472.417.65.2","article-title":"Functional evaluation and cancer risk assessment of BRCA2 unclassified variants","volume":"65","author":"Wu K","year":"2005","journal-title":"Cancer Res"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1431"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705153362001"},{"issue":"5","key":"e_1_2_6_25_2","first-page":"3307","article-title":"BRCA1 germline mutations in Cypriot breast cancer patients from 26 families with family history","volume":"21","author":"Hadjisavvas A","year":"2001","journal-title":"Anticancer Research"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2007.00747.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2007.00747.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:03:14Z","timestamp":1696896194000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2007.00747.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1,23]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["10.1111\/j.1399-0004.2007.00747.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00747.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,1,23]]}}}