The Relationship BRCA1/2 Genes and Family History in Ovarian Cancers

Duzkale N., Teker H. T.

ONCOLOGIE, vol.22, no.2, pp.65-74, 2020 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.32604/oncologie.2020.013707
  • Journal Name: ONCOLOGIE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, EMBASE
  • Page Numbers: pp.65-74
  • Middle East Technical University Affiliated: Yes


BRCA1/2 genes are responsible for the hereditary breast and ovarian cancer syndrome. In this study, Turkish women with ovarian cancer were investigated in terms of demographic, clinicopathologic and family cancer stories according to their condition of the BRCA1/2 genes mutation carrier. During 2011 to 2017 in Turkey, BRCA1 and BRCA2 genes were analyzed in 38 women, who were diagnosed with cancer using Next Generation Sequencing technique. Pathogenic mutations were detected in 9 (23.7%) of patients. The diagnosis age for Ovarian cancer patients for BRCA1/2 mutation carriers was found higher. It was seen that mutations mostly occurred in the BRCA2 gene and frameshift mechanism and they were located in exon10 in the BRCA1 gene and especially in exonl l in the BRCA2 gene. According to the applied logistic regression model, it was found that patients with more than two relatives having cancer would have a 12.844 fold and high risk of being a BRCA1/2 mutation carrier. In women with ovarian cancer, BRCA1/2 gene mutations are observed more frequently in certain exons of these genes. BRCA1 mutation carriers are diagnosed with ovarian cancer earlier than BRCA2 mutation carriers. In hereditary ovarian cancers, besides BRCA1/2, many identified genes and many modifier candidate genes that are waiting to be discovered can cause this condition. In the family history, the numerical increase of cancerous relatives significantly increases the risk of BRCA1/2 carrying mutation.