The Brazilian Genome Map Oncology Subproject: a nationwide multicentre hospital-based whole-genome sequencing study of breast, prostate, and colorectal cancer.
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Ferreira Fabio Oliveira, Rossi Benedito Mauro, Palmero Edenir Inez, Carvalho Barros Luciana Rodrigues, Domingos de Nicola Pablo, Monteiro Dos Santos Erika Maria, Pereira de Souza José, Thiago de Souza-Santos Paulo, Matta Bruna Palma, da Silva Sabato Cristina, Braz Natalia Costa, Monteleone Vanessa Figueiredo, Campacci Natalia, Bastos Gisele Medeiros, Guerra Tamara Soares, Quirino Carla Vanessa, Pereira Natalya, de Oliveira Costa Mateus, Alves da Silva Alecsander, Serra Andre Luiz, Lopes Andreuza Juliana, Alves Coelho Bruna Lorena, Mylla de Aguiar Delciany, Chagas Giselly Lopes, Silva da Costa Janaina, Lima Jéssika Fontes, Jaqueline de Souza Maira, Oliveira Samara Régia, da Fonseca Cristiane, Cascapera Fernanda, Alencar de Moura Fernando Alves, Perroni Dos Santos Gabriele, Guimaraes da Silva Luanda, Campacci Lucas, Sacilotto Luciana, Soares Dos Santos Silvana, Queiroz Wellington Dos Santos, Goto Giovanna Tiemi, Badesso Fonseca Talita Reimão, De Oliveira Mattoschoell Victor Yuri, Rosa Renato Oliveira, Sandoval Renata Lazari, Gambardella Dante Dianezi, Ciconelli Rozana Mesquita, Beraldo da Costa Saad Mariana, Guimaraes Gustavo Cardoso, Collaborative Working Group “Brazilian Genome Map Oncology - BGMO”
Аннотация
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).