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
1 Department of Medical Genetics, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey
2 Department of Medical Biology, Faculty of Medicine, Kafkas University, Kars, Turkey
* Corresponding Author: Neslihan Duzkale. Email:
Oncologie 2020, 22(3), 161-166. https://doi.org/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
BRCA1 and the c.9648+1G>C
likely pathogenic variant in
BRCA2 were detected as DH. Segregation analysis in
family members revealed that her two healthy siblings available for testing were
heterozygous for either
BRCA1 or
BRCA2 variants, but her mother, who had a past
diagnosis of ovarian cancer, was heterozygous for both
BRCA1 and
BRCA2
variants. Germline double heterozygosity in inherited cancer is a rare condition, and
as far as we know it is reported for the first time from patient population in Turkey.
Large-scale patient series are needed to determine the impact of double
heterozygosity on diseases course, such as prognosis and treatment responses.
Keywords
Cite This Article
Duzkale, N., Eyerci, N. (2020). Double Heterozygosity in the
BRCA1/2 Genes in a Turkish Patient with Bilateral Breast Cancer: A Case Report.
Oncologie, 22(3), 161–166. https://doi.org/10.32604/oncologie.2020.014116
Citations