Dados do Trabalho

Título

PREVALENCIA DE VARIANTES DE SIGNIFICADO INCERTO NOS TESTES SOLICITADOS PARA PACIENTES COM CANCER DE MAMA EM UM SERVIÇO PRIVADO

Título em Inglês

Prevalence of variants of uncertain significance in tests requested for breast cancer patients in a private service

Introdução

The genetic mutations test among breast cancer (BC) patients is one of the steps for the diagnosis in the majority of the patients. To Identify and manage the patients with hereditary predisposition to cancer is also the competence of the breast surgeon. The development of Next Generation Sequence (NGS) has allowed the reduction of the tests’ cost as well as the expansion of the analyzed genes, besides BRCA 1 and 2 ,and the inclusion of new genes of high and moderate penetrance. There is a concern about the impact of these results because there is not a well-established conduct for all the mutations as well as for the increase of the diagnoses of variant of uncertain significance (VUS) diagnosed in the panels, mostly in patients that did not receive a formal genetic counseling. Studies show that the larger number of analyzed genes, is related to a better chance of detecting VUS, reaching to 40% but they are not conduct modifiers. The literature shows that approximately 90% of VUS are reclassified as benign.

Objetivos

To assess prevalence of VUS in multigenic panels requested by the non-geneticist physician, in private office, performed on patients with BC diagnosis.

Métodos

A retrospective cross-sectional study was conducted based in data from invasive BC patients or in situ or with high risk for neoplasia that attend a private office and were subjected to multigenic panels requested by the non-geneticist physician from January of 2019 to January of 2020. For the statistical analysis frequency measures were analyzed in the Excel Office®.

Resultados

147 patients did the genetic test of 83 genes with NGS technology. Only one was a male. Within the tests performed, 48 were negative for pathogenic variants and 23 were positive for pathogenic mutations in 22 (15%) patients, the most common being in BRCA2 gene (7 cases), followed by MUTHY (6 cases). 137 VUS occurred in 77 (52.4%) patients, the most common of these being in gene POLE and RECQL4.

Conclusões

The data found in our population match the literature, showing more than half of the patients with VUS. This demonstrates the importance of the test interpretation as well as in patient correct orientation.

Palavras Chave

breast neoplasm, genetic testing, hereditary, variant

Área

TUMOR CELL, MOLECULAR BIOLOGY, PREDICTIVE AND PROGNOSTIC FACTORS - Genetics