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Purpose <p><i>BRCA1</i> and <i>BRCA2</i> are key susceptibility genes in hereditary breast and ovarian cancer (HBOC), with mutational status guiding PARP inhibitor therapy. While single-nucleotide variants (SNVs) predominate, the prevalence of copy number variants (CNVs) varies significantly across different populations. This study aims to determine the incidence of BRCA1/2 CNVs in the Polish population, where data remain scarce due to non-mandatory CNV testing.</p> Methods <p>We retrospectively analysed the results of genetic tests assessing the presence of <i>BRCA1/2</i> CNVs performed in 2720 individuals tested at the Lower Silesian Oncology Centre (2021–2024), including 2702 breast/ovarian cancer patients and 18 unaffected relatives. The mean age was 54.7 ± 15.15&#xa0;years. Genetic testing involved DNA extraction, NGS, and MLPA for CNV confirmation. Variants were classified according to ACMG-AMP guidelines and verified through independent testing.</p> Results <p>In this study, no <i>BRCA2</i> CNVs were identified, consistent with previous Central European findings. Pathogenic <i>BRCA1</i> CNVs were detected in 0.85% of the analyzed cohort and in 0.52% of the cancer patient subgroup, affecting 23 individuals from 13 families. Eight distinct <i>BRCA1</i> CNVs were detected, the most common being exon 21 deletion. Affected families exhibited a high incidence of HBOC-related cancers, with early-onset breast cancer and a notable proportion of triple-negative breast cancer cases.</p> Conclusions <p>This study highlights the clinical significance of <i>BRCA1</i> CNVs in Polish patients with HBOC-spectrum cancers and their families. Although rare, these variants were associated with aggressive cancer phenotypes and early onset. Given their diagnostic and therapeutic implications, <i>BRCA1</i> CNVs should be routinely analysed in high-risk families to ensure accurate detection and personalised treatment planning.</p>

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Copy number variants in BRCA1 and BRCA2 genes in Polish patients with breast and ovarian cancer

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月23日

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  • Anna Doraczynska-Kowalik,
  • Rafal Matkowski,
  • Dagmara Michalowska,
  • Agnieszka Chrusciel,
  • Mariola Semeniuk,
  • Dorota Blomka,
  • Paulina Lawicka,
  • Ewelina Czykalko,
  • Mariola Abrahamowska,
  • Aleksandra Pietron,
  • Gabriela Janus-Szymanska,
  • Ireneusz Pawlak,
  • Adam Maciejczyk,
  • Jolanta Szelachowska,
  • Izabela Laczmanska

摘要

Purpose

BRCA1 and BRCA2 are key susceptibility genes in hereditary breast and ovarian cancer (HBOC), with mutational status guiding PARP inhibitor therapy. While single-nucleotide variants (SNVs) predominate, the prevalence of copy number variants (CNVs) varies significantly across different populations. This study aims to determine the incidence of BRCA1/2 CNVs in the Polish population, where data remain scarce due to non-mandatory CNV testing.

Methods

We retrospectively analysed the results of genetic tests assessing the presence of BRCA1/2 CNVs performed in 2720 individuals tested at the Lower Silesian Oncology Centre (2021–2024), including 2702 breast/ovarian cancer patients and 18 unaffected relatives. The mean age was 54.7 ± 15.15 years. Genetic testing involved DNA extraction, NGS, and MLPA for CNV confirmation. Variants were classified according to ACMG-AMP guidelines and verified through independent testing.

Results

In this study, no BRCA2 CNVs were identified, consistent with previous Central European findings. Pathogenic BRCA1 CNVs were detected in 0.85% of the analyzed cohort and in 0.52% of the cancer patient subgroup, affecting 23 individuals from 13 families. Eight distinct BRCA1 CNVs were detected, the most common being exon 21 deletion. Affected families exhibited a high incidence of HBOC-related cancers, with early-onset breast cancer and a notable proportion of triple-negative breast cancer cases.

Conclusions

This study highlights the clinical significance of BRCA1 CNVs in Polish patients with HBOC-spectrum cancers and their families. Although rare, these variants were associated with aggressive cancer phenotypes and early onset. Given their diagnostic and therapeutic implications, BRCA1 CNVs should be routinely analysed in high-risk families to ensure accurate detection and personalised treatment planning.