PhD Scientific Days 2017

Poster Presentation: Oncology

P33: A new custom-made multiplex PCR-based hot spot test for the parallel detection of genetic alterations in papillary thyroid cancer tissue

Előadó neve

Kocsis-Deák, Barbara

Előadó munkahelye

Semmelweis University

Előadó telefonszáma

+36306115752

Előadó e-mail címe

kocsisd.barbi@gmail.com

Az előadás címe

A new custom-made multiplex PCR-based hot spot test for the parallel detection of genetic alterations in papillary thyroid cancer tissue

Szerző(k) neve és munkahelye

Barbara Kocsis-Deák1, Kristóf Árvai2, Bernadett Balla2, Bálint Tóbiás2, Andrea Kövesdi2, Balázs Járay3, Tamás Székely3, János Horányi4, István Takács1, János Kósa1,2, Péter Lakatos1
1 1st Department of Medicine, Semmelweis University, Budapest, Hungary
2 PentaCore Laboratory, Budapest, Hungary
3 2nd Department of Pathology, Semmelweis University, Budapest, Hungary
4 1st Department of Surgery, Semmelweis University, Budapest, Hungary

Szekció

Poster Presentation: Oncology

Data of the presenter

Doctoral School: Clinical Medicine
Program: Molecular Genetics, Pathomechanism and Clinical Aspects of Metabolic Disorders
Supervisor: Péter Lakatos
E-mail: kocsisd.barbi@gmail.com

Text of the abstract

Introduction: Cancer progresses through accumulation of genetic alterations, which can serve as important diagnostic, prognostic, and predictive biological markers. Thyroid cancer is the most common malignancy of endocrine organs and its incidence is steadily growing worldwide.
Aims: We aimed to develop a targeted next-generation sequencing panel for parallel testing of multiple mutations in thyroid cancer genes.
Method: A multiplex PCR-based hot spot panel was designed to target the relevant exons of 23 cancer genes (NRAS, MET, CTNNB1, PIK3CA, DICER1, VHL, BRAF, PTEN, LPAR4, EIF1AX, HRAS, RET, GAS8-AS1, KRAS, TSHR, AKT1, GNAS, TERT, TP53, AXIN1, APC, IDH1, SMAD4) that contain 357 known COSMIC mutations related to thyroid cancer. Sequencing was carried out on an Ion Torrent PGM instrument. Bioinformatic analysis was performed on 56 papillary thyroid carcinomas with matched normal fresh frozen samples. The average coverage was 400X.
Results: The most frequently mutated genes were BRAF (p.Val600Glu), TSHR (p.Tyr466Phe), APC (p.Thr930Pro), LPAR4 (p.Val83Ala), TP53 (p.Val217fs), AXIN1 (p.Gln634Ter) and SMAD4 (p.Tyr322Asn) in our papillary thyroid cancer samples. Altogether, mutations with at least 5% variant coverage and less than 1% minor allele frequency in general population could be shown in all of the cancer samples, while mutations could be seen in 7 control samples as well. The distribution of genetic alterations was similar to the published data.
Conclusion: Our multi-gene testing approach allows simultaneous analysis of multiple mutations with high accuracy and sensitivity.

Azonosító

P33

Kind

Szabad

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

1107

Authors (legacy)

Barbara Kocsis-Deák1, Kristóf Árvai2, Bernadett Balla2, Bálint Tóbiás2, Andrea Kövesdi2, Balázs Járay3, Tamás Székely3, János Horányi4, István Takács1, János Kósa1,2, Péter Lakatos1
1 1st Department of Medicine, Semmelweis University, Budapest, Hungary
2 PentaCore Laboratory, Budapest, Hungary
3 2nd Department of Pathology, Semmelweis University, Budapest, Hungary
4 1st Department of Surgery, Semmelweis University, Budapest, Hungary