{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T18:32:38Z","timestamp":1780079558906,"version":"3.54.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2009,7,20]],"date-time":"2009-07-20T00:00:00Z","timestamp":1248048000000},"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 Cancer"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>In recent years, numerous studies have assessed the prevalence of germline mutations in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of <jats:italic>BRCA1-2<\/jats:italic> mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of <jats:italic>BRCA1-2<\/jats:italic> germline mutations was also evaluated.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Three hundred and forty-eight breast cancer patients presenting a familial recurrence of invasive breast or ovarian carcinoma with at least two affected family members were screened for <jats:italic>BRCA1-2<\/jats:italic> mutations by DHPLC analysis and DNA sequencing. Association of <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> mutational status with clinical and pathological parameters was evaluated by Pearson's Chi-Squared test.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results and Conclusion<\/jats:title>\n            <jats:p>Overall, 8 <jats:italic>BRCA1<\/jats:italic> and 5 <jats:italic>BRCA2<\/jats:italic> deleterious mutations were detected in 35\/348 (10%) families; majority (23\/35;66%) of mutations was found in <jats:italic>BRCA2<\/jats:italic> gene. The geographical distribution of <jats:italic>BRCA1-2<\/jats:italic> mutations was related to three specific large areas of Sardinia, reflecting its ancient history: <jats:italic>a<\/jats:italic>) the Northern area, linguistically different from the rest of the island (where a <jats:italic>BRCA2 c.8764_8765delAG<\/jats:italic> mutation with founder effect was predominant); <jats:italic>b<\/jats:italic>) the Middle area, land of the ancient Sardinian population (where <jats:italic>BRCA2<\/jats:italic> mutations are still more common than <jats:italic>BRCA1<\/jats:italic> mutations); and <jats:italic>c<\/jats:italic>) the South-Western area, with many Phoenician and Carthaginian locations (where <jats:italic>BRCA1<\/jats:italic> mutations are prevalent). We also found that phenotypic features such as high tumor grading and lack of expression of estrogen\/progesterone receptors together with age at diagnosis and presence of ovarian cancer in the family may be predictive for the presence of <jats:italic>BRCA1-2<\/jats:italic> germline mutations.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2407-9-245","type":"journal-article","created":{"date-parts":[[2009,7,21]],"date-time":"2009-07-21T06:15:51Z","timestamp":1248156951000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A role of BRCA1 and BRCA2germline mutations in breast cancer susceptibility within Sardinian population"],"prefix":"10.1186","volume":"9","author":[{"given":"Grazia","family":"Palomba","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Loi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Uras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Fancello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Piras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attilio","family":"Gabbas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Cossu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Budroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Contu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Tanda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Farris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Orr\u00f9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Floris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Pisano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Lovicu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Santona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gennaro","family":"Landriscina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Crisponi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Monne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,7,20]]},"reference":[{"key":"1579_CR1","doi-asserted-by":"publisher","first-page":"74","DOI":"10.3322\/canjclin.55.2.74","volume":"55","author":"DM Parkin","year":"2005","unstructured":"Parkin DM, Bray F, Ferlay J, Pisani P: Global cancer statistics 2002. 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