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    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 >

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