What question did this study set out to answer?

This research aims to assess how self-declared ethnicity relates to the presence of genetic mutations in breast cancer patients in Brazil.

February 19, 2026

Abstract PS3-05-10: The Self-Declared White Ethnicity is Associated with the Presence of Pathogenic Variants in Brazilian Public Health Patients Undergoing Extended Multigene Panel Testing

Key Result

Self-declared White Brazilian women had 2.1-fold higher odds (CI 1.31-3.36) of pathogenic genetic variants related to breast cancer compared to other ethnicities.

Key Points

This research aims to assess how self-declared ethnicity relates to the presence of genetic mutations in breast cancer patients in Brazil.
Evaluated women with a personal or family history of breast cancer
Collected blood samples for genetic sequencing of 144 genes
Utilized next-generation sequencing for data analysis
Applied various statistical tests including logistic regression
Set significance level at p < 0.05
85.9% of participants had genetic variants
29.7% had pathogenic or likely pathogenic variants
White women had 2.1 times higher odds of pathogenic variants compared to other ethnicities
Personal history of breast cancer increased risk by 1.90 times
Most affected genes included BRCA1, BRCA2, TP53, PALB2, and MUTYH

Structured PICO

Population

364 women with a personal or family history of breast cancer in a Brazilian public health population

Intervention

Extended multigene panel testing (144 genes associated with hereditary syndromes)

Outcome

Prevalence of pathogenic variants and their association with epidemiological variablessurrogate

In a Brazilian public health population, self-declared White ethnicity and personal history of breast cancer were significantly associated with the presence of pathogenic variants on multigene panel testing.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

Abstract Introduction: Breast cancer is the most common cancer among women in Brazil, with high mortality rates, especially in younger women. Hereditary factors, including mutations in BRCA1 and BRCA2, are responsible for a significant number of cases. The use of multigene panels for genetic testing has increased, though data on ethnically admixed populations remain limited. Objective: To evaluate the prevalence of pathogenic variants in a Brazilian public health population and their association with epidemiological variables. Methodology: This study involved women with a personal or family history of breast cancer. Blood samples were collected for genetic sequencing of 144 genes associated with hereditary syndromes. The study took place at the High-Risk sector of the Hospital da Mulher Prof. Dr. José Aristodemo Pinotti – CAISM, UNICAMP, between November 2021 and October 2022. Data were analyzed using next-generation sequencing (NGS) and statistical tests (Chi-Square, Fisher's Exact, Kruskal-Wallis, Bowker, McNemar, logistic regression) with significance set at p 0.05. Results: Of the 364 participants, 85.9% had genetic variants, with 29.7% having pathogenic or likely pathogenic variants. White women (OR: 2.1; CI 1.31-3.36) and those with a personal history of breast cancer (OR: 1.90; CI 1.16-3.10) had significantly higher risks for these variants. The most commonly affected genes were BRCA1, BRCA2, TP53, PALB2, and MUTYH. Conclusion: The study revealed a high prevalence of pathogenic variants, highlighting the role of race and personal history in genetic predisposition to breast cancer. Citation Format: C. Alem, A. Cabello, b. N. Duarte, S. R. teixeira, T. Gaspar, A. viaro, D. I. Silva, M. L. Sousa, T. Cabello, S. Ramalho, L. R. Silva, C. Cabello. The Self-Declared White Ethnicity is Associated with the Presence of Pathogenic Variants in Brazilian Public Health Patients Undergoing Extended Multigene Panel Testing abstract. In: Proceedings of the San Antonio Breast Cancer Symposium 2025; 2025 Dec 9-12; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2026;32(4 Suppl):Abstract nr PS3-05-10.

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