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  • Open Access

    CASE REPORT

    Double Heterozygosity in the BRCA1/2 Genes in a Turkish Patient with Bilateral Breast Cancer: A Case Report

    Neslihan Duzkale1,*, Nilnur Eyerci2

    Oncologie, Vol.22, No.3, pp. 161-166, 2020, DOI:10.32604/oncologie.2020.014116

    Abstract BRCA1 and BRCA2 tumor suppressor genes are responsible for a quarter of hereditary breast cancers. Double heterozygous (DH) pathogenic variant carrier status in these genes is an extremely rare condition, especially in non-Askenazi individuals. We report a woman patient with bilateral breast cancer that carries DH disease-causing variants in BRCA1/2 genes. The 45-year-old patient who was followed up with the diagnosis of metachronous bilateral breast cancer was diagnosed with cancer at the age of 39 and 43, respectively. BRCA1/2 genes of the patient were evaluated using Next-Generation Sequencing. In the patient, the c.2800C>T (p.Gln934Ter) pathogenic variant in BRCA1More >

  • Open Access

    ARTICLE

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

    Neslihan Duzkale1,*, Hikmet Taner Teker2

    Oncologie, Vol.22, No.2, pp. 65-74, 2020, DOI:10.32604/oncologie.2020.013707

    Abstract 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… More >

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