The distinct molecular profile of metastatic prostate cancer in the mixed Brazilian population.
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Macedo Gabriel S, Schuch Jaqueline Bohrer, Cadore Nathan Araujo, Cerveira de Baumont Angélica, Curzel Giovana Dallaio, Bordignon Claudia, Rosa Mahira Lopes, Silveira da Rosa Bruna, Costa Louzeiro Daniela Lacerda, Arruda do Rego Barros Lilian, Notari Alessandra, Lara Gongora Aline Bobato, Fiorin de Vasconcellos Vitor, Barra Williams Fernandes, Ascenco Henrique Guesser, D'Almeida Preto Daniel, Janoski de Menezes Juliana, de Moura Santos Edilmar, Gonçalves Vinicius Knackfuss, Rubini Liedke Pedro Emanuel, Bertollo Gláucio Antônio, Neto Eduardo Kowalski, Campos Mancini André Luiz, Hehn de Oliveira Francine, Neubarth Estivallet Carmen Liane, Andreis Tiago Finger, Onco-Genomas Brasil Research Group, Bessel Marina, Rosa Daniela Dornelles
Аннотация
METHODS: In this multicenter study, 193 men with metastatic prostate cancer, who underwent matched tumor-normal exome sequencing, were enrolled from all five Brazilian macro-regions.
RESULTS: Pathogenic and likely pathogenic germline variants in well-known prostate cancer genes were identified in only 5.7% of the patients, with one case (0.5%) harboring the TP53 p.(Arg337His) Brazilian founder variant. Variants in WNT9B, recently associated with familial prostate cancer, were identified in an additional 2.1% of the patients. In contrast to the germline data, somatic results were obtained in only a subset of patients. Regarding homologous recombination deficiency, 21.8% of patients harbored tumor loss-of-function variants in ATM, CDK12, BRCA2, and FANCA.
CONCLUSION: Even with the low success rate of tumor samples, our data demonstrated that most loss-of-function variants in homologous recombination pathway genes occur as somatic events. Our findings also highlight the distinct germline genomic profile of the Brazilian population and underscore the challenges associated with performing comprehensive analyses on formalin-fixed paraffin-embedded samples.