The Brazilian Genome Map Oncology Subproject: a nationwide multicentre hospital-based whole-genome sequencing study of breast, prostate, and colorectal cancer

Background: The Brazilian Genome Map Oncology Subproject (BGMO) integrates paired germline and tumour WGS with lifestyle assessment across Brazil. We aimed to describe clinical, lifestyle, and genomic characteristics of probands with breast, prostate, and colorectal cancers and cascade-testing results in relatives. Methods: We conducted a cross-sectional analysis of 275 unrelated adults with breast (BC), prostate (PC), or colorectal cancer (CRC) across nine centres. Paired blood-tumour WGS was performed, and pathogenic/likely pathogenic (P/LP) germline variants were assessed using a 106-gene virtual panel. Somatic oncogenic/likely oncogenic variants were classified by tier. Lifestyle exposures before diagnosis were recorded with a questionnaire. First- and second-degree relatives of probands with P/LP variants in cancer-susceptibility genes were invited for targeted testing. Findings: The cohort included 140 BC (50.9%), 65 PC (23.6%), and 70 CRC (25.5%). Overall, 174 (63.3%) participants were women; mean age at diagnosis was 58.4 years (range 29-87). Most self-identified as brown (58.9%), followed by white (29.8%) and black (9.5%). Thirty-three probands (12.0%) carried P/LP germline variants, including 26 (9.5%) in cancer-susceptibility genes. Fifty relatives from 26 families underwent targeted testing; 19 (38.0%) carried the familial variant. Somatic WGS was successful in 269 probands; 88 tumours harboured 91 Tier 1 variants. Interpretation: This multicentre hospital-based WGS study provides an early snapshot of germline, somatic, lifestyle, and familial genetic findings in three high-burden cancers in Brazil and supports expansion to larger, longitudinal BGMO phases. Funding: Brazilian Ministry of Health (PROADI-SUS programme).

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Journal
The Lancet Regional Health - Americas
Published
2026-04-27
DOI
https://doi.org/10.1016/j.lana.2026.101470
Primary Topic
Cancer Genomics and Diagnostics
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article
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article

The Brazilian Genome Map Oncology Subproject: a nationwide multicentre hospital-based whole-genome sequencing study of breast, prostate, and colorectal cancer

Natália Campacci, Lucas Campacci, Dante Dianezi Gambardella, Carla Vanessa Quirino et al.
The Lancet Regional Health - Americas
Cancer Genomics and Diagnostics
article

The Brazilian Genome Map Oncology Subproject: a nationwide multicentre hospital-based whole-genome sequencing study of breast, prostate, and colorectal cancer

Natália Campacci, Lucas Campacci, Dante Dianezi Gambardella, Carla Vanessa Quirino, Janaina Silva Costa, Fernanda Cascapera, Vanessa Figueiredo Monteleone, Cristina da Silva Sábato, Bruna Palma Matta, Samara Regia Oliveira, Érika Maria Monteiro Santos, Mateus De Oliveira Costa, Cristina de Deus Anjos Tavares Sampaio, José Fernando Bastos de Moura, Gisele Medeiros Bastos, Renato Oliveira Rosa, Fernanda Bellotti Formiga, Paulo Thiago de Souza-Santos, Luissa Hikari Hayashi Araujo, Edilmar de Moura Santos, Gustavo Cardoso Guimarães, Silvana Soares dos Santos, Luciana Rodrigues Carvalho Barros, Fábio Oliveira Ferreira, José Pereira de Souza, Rozana Mesquita Ciconelli, Bruna Lorena Alves Coelho, Edenir Inez Palmero, Mariana Beraldo da Costa Saad, Natalya Pereira, Alecsander Alves da Silva, Delciany Mylla de Aguiar, Renata Lazari Sandoval, Luanda Guimaraes da Silva, Giselly Lopes Chagas, Fernando Alves Alencar de Moura, Augusto Modesto de Souza Neto, Benedito Mauro Rossi, Talita Reimão Badesso Fonseca, Andreuza Juliana Lopes, Luciana Sacilotto, Maira Jaqueline de Souza, Wellington dos Santos Queiroz, Jéssika Fontes Lima, Tamara Soares Guerra, Natalia Costa Braz, Giovanna Tiemi Goto, Pablo Domingos de Nicola, Victor Yuri De Oliveira Mattoschoell, Hilka Flávia Barra do Espírito Santo Alves Pereira, Andre Luiz Serra, Cristiane da Fonseca, Juliana Ramos Chaves, Gabriele Perroni dos Santos
article en

Abstract

Background: The Brazilian Genome Map Oncology Subproject (BGMO) integrates paired germline and tumour WGS with lifestyle assessment across Brazil. We aimed to describe clinical, lifestyle, and genomic characteristics of probands with breast, prostate, and colorectal cancers and cascade-testing results in relatives. Methods: We conducted a cross-sectional analysis of 275 unrelated adults with breast (BC), prostate (PC), or colorectal cancer (CRC) across nine centres. Paired blood-tumour WGS was performed, and pathogenic/likely pathogenic (P/LP) germline variants were assessed using a 106-gene virtual panel. Somatic oncogenic/likely oncogenic variants were classified by tier. Lifestyle exposures before diagnosis were recorded with a questionnaire. First- and second-degree relatives of probands with P/LP variants in cancer-susceptibility genes were invited for targeted testing. Findings: The cohort included 140 BC (50.9%), 65 PC (23.6%), and 70 CRC (25.5%). Overall, 174 (63.3%) participants were women; mean age at diagnosis was 58.4 years (range 29-87). Most self-identified as brown (58.9%), followed by white (29.8%) and black (9.5%). Thirty-three probands (12.0%) carried P/LP germline variants, including 26 (9.5%) in cancer-susceptibility genes. Fifty relatives from 26 families underwent targeted testing; 19 (38.0%) carried the familial variant. Somatic WGS was successful in 269 probands; 88 tumours harboured 91 Tier 1 variants. Interpretation: This multicentre hospital-based WGS study provides an early snapshot of germline, somatic, lifestyle, and familial genetic findings in three high-burden cancers in Brazil and supports expansion to larger, longitudinal BGMO phases. Funding: Brazilian Ministry of Health (PROADI-SUS programme).

The Lancet Regional Health - AmericasVol. 58
Beneficência Portuguesa de São Paulo (BR)
Ministério da Saúde
Good health and well-being
Openalex Percentile: Top 14%
Cancer Genomics and Diagnostics
DOIOpen Access PDFOpenAlex
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