Skip to main content
main-content

01.12.2014 | Original Article | Ausgabe 4/2014

Familial Cancer 4/2014

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

Zeitschrift:
Familial Cancer > Ausgabe 4/2014
Autoren:
Kristóf Árvai, Péter Horváth, Bernadett Balla, Anna M. Tőkés, Bálint Tobiás, István Takács, Zsolt Nagy, Péter Lakatos, János P. Kósa
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1007/​s10689-014-9730-7) contains supplementary material, which is available to authorized users.
Péter Lakatos and János P. Kósa have equally contributed to this work.

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.

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

★ PREMIUM-INHALT
e.Med Interdisziplinär

Mit e.Med Interdisziplinär erhalten Sie Zugang zu allen CME-Fortbildungen und Fachzeitschriften auf SpringerMedizin.de. Zusätzlich können Sie eine Zeitschrift Ihrer Wahl in gedruckter Form beziehen – ohne Aufpreis.

Weitere Produktempfehlungen anzeigen
Zusatzmaterial
Supplementary material 1 (XLSX 13 kb)
10689_2014_9730_MOESM1_ESM.xlsx
Supplementary material 2 (XLSX 17 kb)
10689_2014_9730_MOESM2_ESM.xlsx
Supplementary material 3 (XLSX 50 kb)
10689_2014_9730_MOESM3_ESM.xlsx
Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 4/2014

Familial Cancer 4/2014 Zur Ausgabe
  1. Das kostenlose Testabonnement läuft nach 14 Tagen automatisch und formlos aus. Dieses Abonnement kann nur einmal getestet werden.