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Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland

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Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland

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dc.contributor.author Wojcik, P. pl
dc.contributor.author Jasiowka, M. pl
dc.contributor.author Strycharz, E. pl
dc.contributor.author Sobol, M. pl
dc.contributor.author Hodorowicz-Zaniewska, Diana [SAP20002197] pl
dc.contributor.author Skotnicki, P. pl
dc.contributor.author Byrski, T. pl
dc.contributor.author Blecharz, P. pl
dc.contributor.author Marczyk, E. pl
dc.contributor.author Cedrych, I. pl
dc.contributor.author Jakubowicz, J. pl
dc.contributor.author Lubiński, J. pl
dc.contributor.author Sopik, V. pl
dc.contributor.author Narod, S. pl
dc.contributor.author Pierzchalski, Piotr [SAP20001566] pl
dc.date.accessioned 2020-01-17T09:03:50Z
dc.date.available 2020-01-17T09:03:50Z
dc.date.issued 2016 pl
dc.identifier.issn 1731-2302 pl
dc.identifier.uri https://ruj.uj.edu.pl/xmlui/handle/item/137691
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 Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland pl
dc.type JournalArticle pl
dc.abstract.en Background Mutations in the BRCA1, BRCA2 and PALB2 genes are well-established risk factors for the development of breast and/or ovarian cancer. The frequency and spectrum of mutations in these genes has not yet been examined in the population of Southern Poland. Methods We examined the entire coding sequences of the BRCA1 and BRCA2 genes and genotyped a recurrent mutation of the PALB2 gene (c.509_510delGA) in 121 women with familial and/or early-onset breast or ovarian cancer from Southern Poland. Results A BRCA1 mutation was identified in 11 of 121 patients (9.1 %) and a BRCA2 mutation was identified in 10 of 121 patients (8.3 %). Two founder mutations of BRCA1 accounted for 91 % of all BRCA1 mutation carriers (c.5266dupC was identified in six patients and c.181 T > G was identified in four patients). Three of the seven different BRCA2 mutations were detected in two patients each (c.9371A > T, c.9403delC and c.1310_1313delAAGA). Three mutations have not been previously reported in the Polish population (BRCA1 c.3531delT, BRCA2 c.1310_1313delAAGA and BRCA2 c.9027delT). The recurrent PALB2 mutation c.509_510delGA was identified in two patients (1.7 %). Conclusions The standard panel of BRCA1 founder mutations is sufficiently sensitive for the identification of BRCA1 mutation carriers in Southern Poland. The BRCA2 mutations c.9371A > T and c.9403delC as well as the PALB2 mutation c.509_510delGA should be included in the testing panel for this population. pl
dc.subject.en BRCA1 pl
dc.subject.en BRCA2 pl
dc.subject.en PALB2 pl
dc.subject.en breast cancer pl
dc.subject.en ovarian cancer pl
dc.description.volume 14 pl
dc.description.points 15 pl
dc.identifier.doi 10.1186/s13053-016-0046-5 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 Chirurgii Ogólnej, Onkologicznej i Gastroenterologicznej pl
dc.affiliation Wydział Nauk o Zdrowiu : Instytut Fizjoterapii pl
dc.subtype Article pl
dc.identifier.articleid 5 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 77182
dc.cm.date 2020-01-07
.pointsMNiSW [2016 A]: 15


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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