TY  - JOUR
T1  - Germline Screening of Cancer-Related Genes in Turkish Ovarian Cancer Patients
AU  - Arslan Ateş, Esra
AU  - Alavanda, Ceren
AU  - Geçkinli, Bilgen Bilge
AU  - Güney, İlter
AU  - Gunel, Tuba
PY  - 2022
DA  - December
DO  - 10.26650/experimed.1187969
JF  - Experimed
PB  - Istanbul University
WT  - DergiPark
SN  - 2667-5846
SP  - 181
EP  - 187
VL  - 12
IS  - 3
LA  - en
AB  - Objective:  Ovarian  cancer  (OC)  is  one  of  the  most  fatal  types  of  cancer  and  affects  1%-1.5%  of  women  worldwide.  The  most  common  genes  causing  OC  are  the  BRCA1  and  BRCA2  genes.  However,  improvements  in  next-generation  sequencing  (NGS)  technologies  have  allowed for screening of the various genes related to hereditary cancer syndromes. The aim of this study was to evaluate cancer-related gene variations among cases of ovarian cancer.Materials  and  Methods:  The  study  evaluated  63  cases  that  were  referred  to  the  Marmara  University  Pendik  Training  and  Research  Hospital Genetic Diseases Diagnostic Center between 2016-2021 with a diagnosis of OC for germline variations in 25 cancer-related genes using  NGS.  Large  intragenic  rearrangements  of  the  BRCA1  and  BRCA2  genes  were  screened  using  multiplex  ligation-dependent  probe  amplification (MLPA).Results: The study detected 12 distinct pathogenic variations in the BRCA1, BRCA2, BRIP1, and RAD50 genes in 13 OC cases. Four of the 13 cases involved copy number variations that included at least one exon of the BRCA1 gene.Conclusion: This study detected pathogenic BRCA1 variations to be the leading cause of hereditary OC. The study showed just screening for BRCA1  to  reveal  the  underlying  hereditary  defect  in  76.9%  of  the  cases,  which  seems  higher  compared  to  literature.  More  studies  involving larger cohorts are necessary to figure out the exact frequency of BRCA1 variations in Turkish OC cases
KW  - Ovarian Cancer
KW  - hereditary cancer syndromes
KW  - Germline Mutation
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UR  - https://doi.org/10.26650/experimed.1187969
L1  - https://dergipark.org.tr/en/download/article-file/2703863
ER  -