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 BRCA1 and the… More >
Login
Register
