Banca de DEFESA: THALIA QUEIROZ LADEIRA

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : THALIA QUEIROZ LADEIRA
DATE: 27/03/2024
TIME: 13:30
LOCAL: https://meet.google.com/wzv-ahpo-cpn
TITLE:

Evaluation of variants in patients with criteria for cancer syndrome hereditary breast and ovary in Minas Gerais: unraveling the clinical significance uncertain


KEY WORDS:
NGS, Variants of uncertain significance, HBOC.

PAGES: 151
BIG AREA: Ciências da Saúde
AREA: Farmácia
SUMMARY:
Breast cancer stands as a significant public health challenge in Brazil, with an
estimated 10 to 15% of cases attributed to inherited mutations, defining the
Hereditary Breast and Ovarian Cancer Syndrome (HBOC). Presently, the expansion
of knowledge regarding genetic factors influencing cancer risk and the availability of
genetic panels employing Next Generation Sequencing (NGS) technology has made
genetic testing increasingly prevalent. Nonetheless, NGS yields a substantial volume
of data, presenting a formidable challenge for both physicians and patients, owing to
the identification of numerous variants with uncertain clinical significance (VUS)
identified. Consequently, the reclassification of these variants assumes paramount
importance in order to facilitate appropriate monitoring for individuals harboring such
mutations. Thus, this study aims to Evaluate the VUS resulting from the genetic
screening of patients treated at the Oncology Unit of Hospital São João de Deus, MG.
For screening, 83 patients diagnosed with breast or ovarian cancer and met clinical
criteria for HBOC had 22 genes sequenced through NGS. The mutations identified
were classified using databases, such as ClinVar and Varsome. As a result, it was
observed that 5,5% of variants are VUS, mainly on the ATM gene; and 8,3% are
pathogenic, most frequently on BRCA genes. Conversely, benign variants represent
86,1%. The next step was to predict the pathogenicity of VUS via bioinformatic tools.
literature information, allelic frequency, and family history. Patients who did the test in
private laboratories and received VUS in their clinic reports were also included in the
research to reevaluate these variants. The information obtained, interpreted
according to ACMG criteria, suggests that 3 variants can be reevaluated as likely
pathogenic, 1 as pathogenic, 1 likely benign, 1 benign, whereas 10 are maintained in
the VUS category. Significant evidence has been collected, which Significant
evidence has been found, which may aid in shaping a more personalized clinical
approach for the patient and their family, as well as providing new data for
international literature.

BANKING MEMBERS:
Presidente - 1457505 - LUCIANA LARA DOS SANTOS
Externa à Instituição - MARIA RAQUEL SANTOS CARVALHO - UFMG
Externa à Instituição - ADRIANA HELENA DE OLIVEIRA REIS
Notícia cadastrada em: 26/03/2024 10:49
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