Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study

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dc.contributor.authorFostira, F.en
dc.contributor.authorTsitlaidou, M.en
dc.contributor.authorPapadimitriou, C.en
dc.contributor.authorPertesi, M.en
dc.contributor.authorTimotheadou, E.en
dc.contributor.authorStavropoulou, A. V.en
dc.contributor.authorGlentis, S.en
dc.contributor.authorBournakis, E.en
dc.contributor.authorBobos, M.en
dc.contributor.authorPectasides, D.en
dc.contributor.authorPapakostas, P.en
dc.contributor.authorPentheroudakis, G.en
dc.contributor.authorGogas, H.en
dc.contributor.authorSkarlos, P.en
dc.contributor.authorSamantas, E.en
dc.contributor.authorBafaloukos, D.en
dc.contributor.authorKosmidis, P. A.en
dc.contributor.authorKoutras, A.en
dc.contributor.authorYannoukakos, D.en
dc.contributor.authorKonstantopoulou, I.en
dc.contributor.authorFountzilas, G.en
dc.date.accessioned2015-11-24T18:56:51Z
dc.date.available2015-11-24T18:56:51Z
dc.identifier.issn1573-7217-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19103
dc.rightsDefault Licence-
dc.titlePrevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Studyen
heal.abstractIn spite the close association of the triple-negative breast cancer immunophenotype with hereditary breast cancers and the BRCA1 pathway, there is a lack of population studies that determine the frequency of BRCA1 mutations among triple-negative breast cancer patients. To address this, we have screened a large sample of 403 women diagnosed with triple-negative invasive breast cancer, independently of their age or family history, for germline BRCA1 mutations. Median age at diagnosis was 50 years (range 20-83). The overall prevalence of triple-negative cases among the initial patient group with invasive breast cancer was 8 %. BRCA1 was screened by direct DNA sequencing in all patients, including all exons where a mutation was previously found in the Greek population (exons 5, 11, 12, 16, 20, 21, 22, 23, 24-77 % of the BRCA1 coding region), including diagnostic PCRs to detect the three Greek founder large genomic rearrangements. Sixty-five deleterious BRCA1 mutations were identified among the 403 triple-negative breast cancer patients (16 %). Median age of onset for mutation carriers was 39 years. Among a total of 106 women with early-onset triple-negative breast cancer (<40 years), 38 (36 %) had a BRCA1 mutation, while 27 % of women with triple-negative breast cancer diagnosed before 50 years (56/208) had a BRCA1 mutation. A mutation was found in 48 % (50/105) of the triple-negative breast cancer patients with family history of breast or ovarian cancer. It is noteworthy, however, that of the 65 carriers, 15 (23 %) had no reported family history of related cancers. All but one of the carriers had grade III tumors (98 %). These results indicate that women with early-onset triple-negative breast cancer, and ideally all triple-negative breast cancer patients, are candidates for BRCA1 genetic testing even in the absence of a family history of breast or ovarian cancer.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1007/s10549-012-2021-9-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/22434525-
heal.identifier.secondaryhttp://www.springerlink.com/content/c7nw54057522n876/fulltext.pdf-
heal.journalNameBreast Cancer Res Treaten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2012-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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