Evaluation of the psychological state of patients suspected of Lynch syndrome after the germline genetic testing result.

Abstract

e24201 Background: Lynch syndrome (LS) also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome, is caused by a deficiency of Mismatch Repair Complex (MMR) enzymes. It is an autosomal dominant syndrome associated with an increased risk of developing colorectal cancer and other neoplasms, which can be confirmed using a germline molecular test. Psychological distress can be triggered regardless of the genetic test result. How the individual reacts emotionally and psychologically to the development can influence the processing of information and guidelines and adherence to preventive strategies. In this context, tracking anxiety symptoms provides opportunities for psychosocial follow-up planning. Objective: to evaluate levels of anxiety and depression in cancer patients suspected of having LS submitted to genetic testing. Methods: 84 patients with clinical criteria for LS were submitted to the germline genetic panel by NGS and immediately after the genetic test result, answered the Hospital Anxiety and Depression Scales (HADS). Data were expressed as mean±SD and compared using the Mann-Whitney, Kruskal-Wallis/Dunn, and Spearman correlation tests (SPSS v20.0, p < 0.05). Results: The mean levels of anxiety (5.59±3.31) were significantly higher than that of depression (4.63±3.58) ( p= 0.007), both domains were positively correlated ( p< 0.001, r= 0.447). Eighteen patients (21.4%) had pathogenic mutations in genes of the MMR complex. A positive diagnosis did not affect levels of anxiety or depression (pathogenic variant p= 0.617 and p= 0.478; Significance Uncertain-VUS p= 0.415 and p= 0.561, respectively). Females had higher levels of depression than males ( p= 0.047, with a relative risk of 1.65 times; CI95% = 1.05-13.19); however, other clinical and therapeutic characteristics did not significantly influence anxiety levels or depression. Conclusions: Colorectal cancer women are most sensitive to depression after germline genetic testing, despite the results. These findings reinforce the need for psychological screening of individuals undergoing genetic testing for LS and continuing psychological follow-up after receiving the genetic test.