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01-12-2014 | Original Article

Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples

Authors: Kristóf Árvai, Péter Horváth, Bernadett Balla, Anna M. Tőkés, Bálint Tobiás, István Takács, Zsolt Nagy, Péter Lakatos, János P. Kósa

Published in: Familial Cancer | Issue 4/2014

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.

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Title: Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples
Authors: Kristóf Árvai
Péter Horváth
Bernadett Balla
Anna M. Tőkés
Bálint Tobiás
István Takács
Zsolt Nagy
Péter Lakatos
János P. Kósa
Publication date: 01-12-2014
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 4/2014
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-014-9730-7

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