Hospital Haroldo Juaçaba, Ceará Cancer Institute, Fortaleza, Brazil
Francisca Fernanda Barbosa Oliveira , Paulo Goberlânio de Barros Silva , Flávio da Silveira Bitencourt , Rosane Oliveira Sant'Ana , Isabelle Joyce de Lima Silva-Fernandes , Maria Júlia Barbosa Bezerra , Maria Claudia dos Santos Luciano , Clarissa Gondim Picanço-Albuquerque , Thuany Pinto Rocha de Souza , Marcos Venício Alves Lima
Background: Genetic tests have been increasingly requested to identify families at risk of hereditary cancer. In a family with a known mutation, the offspring of a carrier, whether male or female, have a 50% risk of inheriting the mutation. Most studies on the psychological implications associated with genetic testing have focused on women and few studies have focused on the male population. Methods: A total of 56 men with a personal history of cancer underwent screening for mutations in a panel of 31 genes associated with hereditary cancer. Assessment of quality of life (QoL) and levels of anxiety and depression was performed after patients received the genetic test result. For this, the HADS and WHOQOL-BREF scales were used. Wilcoxon, X², and Spearman correlation tests were used (SPSS v20.0 for Windows). Results: Of the 56 participants, 28.6% had a pathogenic mutation, 32.1% had a Variant of Undetermined Significance (VUS), and 39.3% had no mutation. The presence of the mutation was not associated with QoL (p = 0.967) or anxiety (p = 0.436) or depression (p = 0.945). Mean QoL was 77.95±7.38 (range = 50.00-95.20), mean anxiety was 5.14±2.62 (range = 1-14) and mean depression scores were 4.14±2.55 (range = 0-14). QoL was inversely correlated with levels of anxiety (p < 0.001, r = -0.496) and depression (p < 0.001, r = -0.494), parameters that were directly correlated (p = 0.037, r = 0.279). Most patients had QoL > 80 (n = 38, 67.9%), and only 16 (28.6%) and 13 (23.2%) men had HAD scores > 5. Conclusions: The result of carrying a mutation did not influence the quality of life and anxiety or depression levels in the male population evaluated. However, it was observed that levels of anxiety and depression can compromise the quality of life. The data from the present study reinforce the importance of considering the psychological aspects in the process of genetic investigation for hereditary cancer. In addition, it suggests that educational levels must be investigated to assess whether the low levels of anxiety and depression observed are associated with a low level of understanding of the clinical significance of carrying a pathogenic mutation.
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