Clinicopathological features of breast cancer in Ukrainian women with BRCA1 c.181T>G (p.Cys61Gly) variant: a case series
Abstract
Introduction: BRCA1 c.181T>G (p.Cys61Gly) is a pathogenic founder genetic variant prevalent in Central and Eastern Europe. The data on its clinicopathological manifestations in Ukrainian patients remain limited.
Aim: This study aimed to characterize clinical presentation, tumor biology, and family history in Ukrainian women with BRCA1 c.181T>G variant.
Materials and methods: We conducted a single-centre case series of women with primary breast cancer (BC) and/or ovarian cancer (OC) harbouring BRCA1 c.181T>G genetic variant and treated at Lviv Regional Oncology Treatment and Diagnostic Center (Ukraine) between January 2024 and August 2025. Clinical presentation, tumor pathology, biomarker status, family history, treatment, and outcomes were analysed.
Results: Thirteen women aged 29-81 years (median 35 years) were included in this case series. Early-onset BC was recorded in 10 (76.9%) of patients diagnosed before 40 years. BC was the initial malignancy in 12 (92.3%) patients. OC occurred as a first tumor in 1 (7.7%) and as a subsequent cancer in 4 (30.8%) patients. Multiple malignancies were observed in 61.5% of patients, with intervals of 5-21 years between diagnoses. Family history revealed strong clustering of BC and OC across generations, often involving multiple affected relatives, consistent with hereditary breast and ovarian cancer syndrome phenotype. Among cases with known biomarker status (10/13), 2 were HER2-positive, 4 belonged to luminal-like type, and 4 cases…
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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