Show simple item record Árvai, Kristóf Horváth, Péter Balla, Bernadett Tőkés, Anna-Mária Tóbiás, Bálint Takács, István Nagy, Zsolt Lakatos, Péter Kósa, János 2016-09-07T14:20:43Z 2016-09-07T14:20:43Z 2014
dc.identifier 84937511219
dc.identifier.citation pagination=583-589; journalVolume=13; journalIssueNumber=4; journalTitle=FAMILIAL CANCER;
dc.identifier.uri doi:10.1007/s10689-014-9730-7
dc.description.abstract BRCA1 and BRCA2 are two well-known genes in the background of hereditary breast and ovarian cancer. There is also evidence that several other genes play an important role in the pathogenesis of these two malignancies. Latest population-scaled studies showed that certain mutations in different genes could cause similar risk elevation like BRCA2 mutations. In this study we present a new method to analyse the risk assessment of women to breast and ovarian cancer. Using Haloplex, a novel sequence capture method combined with next-generation sequencing we were able to perform rapid and cost-effective screening of 16 genes that could be associated with an increased risk of breast and ovarian cancer. The rapid and cost effective analysis of this 16-gene cohort can reveal the genetic background of approximately 30 % of hereditary and familiar cases of breast and ovarian cancers. Thus, it opens up a new and high-throughput approach with fast turnaround time to the genetic diagnostics of these disorders and may be helpful to investigate other familial genetic disorders as well.
dc.relation.ispartof urn:issn:1389-9600
dc.title Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples
dc.type Journal Article 2016-06-16T09:58:46Z
dc.language.rfc3066 en
dc.identifier.mtmt 2599852
dc.identifier.wos 000345093500008
dc.identifier.pubmed 24853695
dc.contributor.department SE/AOK/K/I. Sz. Belgyógyászati Klinika
dc.contributor.department SE/AOK/I/IISZPI/MTA-SE Molekuláris Onkológia Kutatócsoport
dc.contributor.institution Semmelweis Egyetem
dc.mtmt.swordnote Péter Lakatos and János P. Kósa have equally contributed to this work.

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