Dados do Resumo

Título

Hereditary and Sporadic Triple-Negative Breast Cancer: Insights from Public and Private Healthcare Systems

Introdução

It is estimated that there will be 73,600 new cases of breast cancer by 2025. This underscores the importance of identifying hereditary cases to implement personalized preventive measures and surveillance strategies for early tumor detection. Multigene panel tests enhance detection rates, but access in Brazil remains inequitable, restricted to about 25% of private healthcare users and a small portion of public health system (SUS) users, mainly through research projects in universities or cancer hospitals.

Objetivo

Given the association between triple-negative breast cancer (TNBC) and germline pathogenic variants (GPV), this study aims to explore differences in clinical and genetic variables between hereditary and sporadic TNBC patients treated in public and private healthcare systems.

Métodos

Data from TNBC patients at A.C. Camargo who were screened for GPVs using multigene panels—either in-house or by certified external laboratories—were analyzed. The panel included genes with well-established associations with breast cancer risk. Pathogenic and likely pathogenic variants were classified following the American College of Medical Genetics and Genomics criteria. Clinical data were obtained from electronic medical records. Clinical, genetic, and survival data were compared between patients from SUS and private/supplementary healthcare services (PHS). SUS patients were identified through Tumor Board (TB) meetings. Fisher’s Exact test was used with a significance level of p<0.05. Survival curves were calculated using the Kaplan-Meier method, with the Log-rank (Mantel-Cox) test for comparisons and a significance level of 95%. Ethic IRB 2483 and 2496/18.

Resultados

A total of 326 TNBC patients were included: 42 from SUS and 284 from PHS. The mean age at diagnosis was 40.8 years (17-65) for SUS and 46.6 years (25-83) for PHS. The younger age in SUS reflects the genetic testing referral criteria considered by clinicians in a TB context. Most PHS patients self-identified as white (all: 81% vs 54%; p=0.0005), including hereditary (94% vs 55%; p=0.0002) and sporadic cases (77% vs 54%; p=0.0358). However, GPV detection rates were higher in SUS patients (47% vs 29%; p=0.0208). BRCA1 was the most frequently altered gene (SUS 36% - 15/42; PHS 14% - 39/284), followed by BRCA2 (SUS 0%; PHS 7% - 19/284). Bilateral breast cancer was more common in SUS patients (19% vs 5%; p=0.006). Although SUS patients showed better 5-year overall survival (p=0.0200) and a trend toward improved 3-year progression-free survival (p=0.0583) compared to PHS, no significant differences were observed when the groups were adjusted for clinical stages I+II and III+IV. This aligns with the observation that more PHS patients were diagnosed at earlier stages I or II (73% vs 58%; p=0.0598).

Conclusões

This study reveals differences between TNBC patients treated in SUS and PHS, emphasizing the impact of advanced-stage diagnosis on outcomes. The higher GPV rate among SUS patients, particularly for BRCA1, and the higher incidence of bilateral breast cancer highlight the need to consider genetic factors in managing this population. However, the relatively small number of SUS patients is a limitation of this study. These findings underscore the importance of health policies aimed at ensuring equitable access to genetic screening.

Financiador do resumo

PRONON (2500.055.121\2015-12), FAPESP (2013/23277-8); CNPq (305464/2013-2)

Palavras Chave

triple-negative breast cancer; public health system; private health system