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Frequency of "BRCA1" and "BRCA2" causative founder variants in ovarian cancer patients in South-East Poland

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Frequency of "BRCA1" and "BRCA2" causative founder variants in ovarian cancer patients in South-East Poland

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dc.contributor.author Kluz, Tomasz pl
dc.contributor.author Jasiewicz, Andrzej pl
dc.contributor.author Marczyk, Elżbieta pl
dc.contributor.author Jach, Robert [SAP20001622] pl
dc.contributor.author Jakubowska, Anna pl
dc.contributor.author Lubiński, Jan pl
dc.contributor.author Narod, Steven A. pl
dc.contributor.author Gronwald, Jacek pl
dc.date.accessioned 2020-01-17T09:57:32Z
dc.date.available 2020-01-17T09:57:32Z
dc.date.issued 2018 pl
dc.identifier.issn 1731-2302 pl
dc.identifier.uri https://ruj.uj.edu.pl/xmlui/handle/item/142814
dc.language eng pl
dc.rights Udzielam licencji. Uznanie autorstwa 4.0 Międzynarodowa *
dc.rights.uri http://creativecommons.org/licenses/by/4.0/pl/legalcode *
dc.title Frequency of "BRCA1" and "BRCA2" causative founder variants in ovarian cancer patients in South-East Poland pl
dc.type JournalArticle pl
dc.abstract.en Background Causative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of BRCA1/2 mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland. Methods We examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie. We studied 13 Polish causative founder variants in BRCA1 (c.5266dupC, c.4035delA, c.5251C > T, c.181 T > G, c.676delT, c.68_69delAG, c.3700_3704delGTAAA, c.1687C > T, c.3756_3759delGTCT) and in BRCA2 (c.658_659delGT, c.7910_7914delCCTTT, c.3847_3848delGT, c.5946delT). Results A BRCA1 causative founder variants were detected in 10 of the 158 (6.3%) ovarian cancer cases. BRCA2 causative founder variants were not observed. The c.5266dupC mutation was detected in 6 patients, c.181 T > G mutation in 3 patients and the c.676delT mutation in 1 patient. The median age of diagnosis of the 10 hereditary ovarian cancers was 55.5 years of age. Conclusions The frequency of 13 causative founder variants in Podkarpacie was lower than in other regions of Poland. Testing of three BRCA1 mutations (c.5266dupC, c.181 T > G, c.676delT) should be considered a sensitive test panel. pl
dc.subject.en BRCA1 and BRCA2 mutation pl
dc.subject.en ovarian cancer pl
dc.subject.en Poland pl
dc.description.volume 16 pl
dc.description.points 20 pl
dc.identifier.doi 10.1186/s13053-018-0089-x pl
dc.identifier.eissn 1897-4287 pl
dc.title.journal Hereditary Cancer in Clinical Practice pl
dc.language.container eng pl
dc.affiliation Wydział Lekarski : Klinika Endokrynologii Ginekologicznej pl
dc.subtype Article pl
dc.identifier.articleid 6 pl
dc.rights.original CC-BY; otwarte czasopismo; ostateczna wersja wydawcy; w momencie opublikowania; 0 pl
dc.identifier.project ROD UJ / OP pl
dc.cm.id 88043
dc.cm.date 2020-01-07
.pointsMNiSW [2018 A]: 20


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Udzielam licencji. Uznanie autorstwa 4.0 Międzynarodowa Except where otherwise noted, this item's license is described as Udzielam licencji. Uznanie autorstwa 4.0 Międzynarodowa