{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T03:24:17Z","timestamp":1774409057261,"version":"3.50.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,6,14]],"date-time":"2013-06-14T00:00:00Z","timestamp":1371168000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>The estimated ratio of hereditary breast\/ovarian cancer (HBOC) based on family history is 1.5% in Latvia. This is significantly lower than the European average of 5\u201310%. Molecular markers like mutations and SNPs can help distinguish HBOC patients in the sporadic breast and ovarian cancer group.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>50 patients diagnosed with HBOC in the Latvian Cancer Registry from January 2005 to December 2008 were screened for <jats:italic>BRCA1<\/jats:italic> founder mutation-negatives and subjected to targeted resequencing of <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes. The newly found mutations were screened for in the breast and ovarian cancer group of 1075 patients by Real Time-PCR\/HRM analysis and RFLP.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Four <jats:italic>BRCA2<\/jats:italic> mutations including three novel <jats:italic>BRCA2<\/jats:italic> frameshift mutations and one previously known <jats:italic>BRCA2<\/jats:italic> frameshift mutation and one <jats:italic>BRCA1<\/jats:italic> splicing mutation were identified. Two of the <jats:italic>BRCA2<\/jats:italic> mutations were found in a group of consecutive breast cancer patients with a frequency of 0.51% and 0.38%.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Molecular screening of sequential cancer patients is an important tool to identify HBOC families.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-14-61","type":"journal-article","created":{"date-parts":[[2013,6,14]],"date-time":"2013-06-14T16:14:35Z","timestamp":1371226475000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["BRCA1\/2 mutation screening in high-risk breast\/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families"],"prefix":"10.1186","volume":"14","author":[{"given":"Dace","family":"Berzina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miki","family":"Nakazawa-Miklasevica","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jekaterina","family":"Zestkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina","family":"Aksenoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arvids","family":"Irmejs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andris","family":"Gardovskis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dagnija","family":"Kalniete","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janis","family":"Gardovskis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edvins","family":"Miklasevics","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,6,14]]},"reference":[{"key":"1093_CR1","doi-asserted-by":"publisher","first-page":"2318","DOI":"10.1002\/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z","volume":"77","author":"EB Claus","year":"1996","unstructured":"Claus EB, Schildkraut JM, Thompson WD, Risch NJ: The genetic attributable risk of breast and ovarian cancer. 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