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Background <p>Germline <i>BRCA1/2</i> pathogenic variants account for up to 11% of breast cancer (BC) cases in Nigeria, approximately twice the prevalence reported in high-income populations. However, access to hereditary cancer services remains limited and patient awareness is largely uncharacterized. Prior studies have assessed knowledge of genetic testing among healthy populations or following structured genetic counselling, but none have evaluated baseline awareness at the point of clinical diagnosis. This multicentre study measured baseline awareness of hereditary BC and willingness to undergo <i>BRCA1/2</i> testing among patients newly diagnosed with BC at three tertiary hospitals, as a pre-implementation evaluation for hereditary cancer services in this setting.</p> Methods <p>We conducted a cross-sectional, multicentre study of 230 newly diagnosed patients with histologically confirmed invasive BC recruited between March 2022 and October 2023 at three tertiary teaching hospitals in Nigeria (Osun, Kwara, and Ebonyi States, representing the South West, North Central, and South East geopolitical zones). A structured, interviewer-administered questionnaire was used to assess knowledge of BC risk factors and symptoms, recognition of hereditary BC, awareness of <i>BRCA1/2</i>, and willingness to undergo germline testing and engage in family disclosure. Factors associated with knowledge and willingness were examined via univariable and multivariable regression.</p> Results <p>The median age was 47 years; 66.5% were of low socioeconomic status, and 33.0% had a tertiary education. Most patients presented with advanced disease (stage III/IV: 73.0%), and among those with available data, 76.3% had triple-negative BC. Recognition that BC can be hereditary was limited (55.6%, 95% CI 49.1–61.9%), and prior awareness of <i>BRCA1/2</i> was extremely low (4.8%; 95% CI 2.7–8.4%). According to the multivariable analysis, recognition of hereditary BC was independently associated with education (<i>p</i> &lt; 0.001) and hospital centre (<i>p</i> = 0.024). Despite limited genetic literacy, willingness to undergo <i>BRCA1/2</i> genetic testing was high (95.7%), with most participants willing to inform siblings (94.8%) and encourage genetic testing for family members (96.1%).</p> Conclusions <p>Among newly diagnosed patients with BC across three Nigerian tertiary centres, awareness of hereditary BC and <i>BRCA1/2</i> was low, yet willingness to undergo genetic testing was near-universal. Together with previously reported provider readiness, these findings point to service availability rather than patient or provider attitudes as the principal barrier to introducing hereditary BC services in Nigeria. As these services are being developed in Nigeria and comparable settings across sub-Saharan Africa, the corresponding priority will be to design consent pathways, patient-facing education materials, and provider training that addresses the gap between patient willingness and genetic literacy.</p>

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Awareness of hereditary breast cancer and readiness for genetic testing among newly diagnosed patients with breast cancer in Nigeria: a multicentre study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月27日

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  • Funmilola O. Wuraola,
  • Jenine Ramruthan,
  • Victoria L. Mango,
  • Nneka Sunday-Nweke,
  • Olayide Agodirin,
  • Anna Dare,
  • Adewale A. Aderounmu,
  • Mary Ogunyemi,
  • Boladuro Olawale,
  • Saheed Lawal,
  • Anna T. Santiago,
  • Olalekan Olasehinde,
  • Adewale O. Adisa,
  • Emma Reel,
  • Olusegun I. Alatise,
  • Tulin D. Cil

摘要

Background

Germline BRCA1/2 pathogenic variants account for up to 11% of breast cancer (BC) cases in Nigeria, approximately twice the prevalence reported in high-income populations. However, access to hereditary cancer services remains limited and patient awareness is largely uncharacterized. Prior studies have assessed knowledge of genetic testing among healthy populations or following structured genetic counselling, but none have evaluated baseline awareness at the point of clinical diagnosis. This multicentre study measured baseline awareness of hereditary BC and willingness to undergo BRCA1/2 testing among patients newly diagnosed with BC at three tertiary hospitals, as a pre-implementation evaluation for hereditary cancer services in this setting.

Methods

We conducted a cross-sectional, multicentre study of 230 newly diagnosed patients with histologically confirmed invasive BC recruited between March 2022 and October 2023 at three tertiary teaching hospitals in Nigeria (Osun, Kwara, and Ebonyi States, representing the South West, North Central, and South East geopolitical zones). A structured, interviewer-administered questionnaire was used to assess knowledge of BC risk factors and symptoms, recognition of hereditary BC, awareness of BRCA1/2, and willingness to undergo germline testing and engage in family disclosure. Factors associated with knowledge and willingness were examined via univariable and multivariable regression.

Results

The median age was 47 years; 66.5% were of low socioeconomic status, and 33.0% had a tertiary education. Most patients presented with advanced disease (stage III/IV: 73.0%), and among those with available data, 76.3% had triple-negative BC. Recognition that BC can be hereditary was limited (55.6%, 95% CI 49.1–61.9%), and prior awareness of BRCA1/2 was extremely low (4.8%; 95% CI 2.7–8.4%). According to the multivariable analysis, recognition of hereditary BC was independently associated with education (p < 0.001) and hospital centre (p = 0.024). Despite limited genetic literacy, willingness to undergo BRCA1/2 genetic testing was high (95.7%), with most participants willing to inform siblings (94.8%) and encourage genetic testing for family members (96.1%).

Conclusions

Among newly diagnosed patients with BC across three Nigerian tertiary centres, awareness of hereditary BC and BRCA1/2 was low, yet willingness to undergo genetic testing was near-universal. Together with previously reported provider readiness, these findings point to service availability rather than patient or provider attitudes as the principal barrier to introducing hereditary BC services in Nigeria. As these services are being developed in Nigeria and comparable settings across sub-Saharan Africa, the corresponding priority will be to design consent pathways, patient-facing education materials, and provider training that addresses the gap between patient willingness and genetic literacy.