Banca de QUALIFICAÇÃO: THALIA QUEIROZ LADEIRA

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : THALIA QUEIROZ LADEIRA
DATE: 03/10/2023
TIME: 15:30
LOCAL: Videoconferência
TITLE:

Assessment of variants in patients meeting criteria for hereditary breast and ovarian cancer syndrome in Minas Gerais: unraveling the uncertain clinical significance


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

PAGES: 88
BIG AREA: Ciências da Saúde
AREA: Farmácia
SUMMARY:
Breast cancer stands as a significant public health challenge in Brazil, with an
estimated 5 to 10% 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).
Consequently, the reclassification of these variants assumes paramount importance
In order to facilitate appropriate monitoring for individuals harboring such mutations.
Thus, this study aims Evaluate the VUS resulting from the genetic screening of
patients treated at the Oncology Unit of Hospital São João de Deus, MG. For that, 72
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
18% of patients have VUS, mainly on the ATM gene; 16.7% of variants are
pathogenic, most frequently on BRCA genes, and 2.8% have both types of mutation.
The next step was to predict the pathogenicity of VUS via bioinformatic tools.
literature information, populational frequency, and family history. In this procedure,
patients who did the test in private laboratories and received VUS in their clinic
reports were also included. Thereafter, the collected pieces of evidence suggest that
12 VUS have pathogenic potential, three remain uncertain and 2 are likely benign.
Although informative, relying only on these data is not enough. It will be necessary to
perform segregation experiments to fully comprehend the investigated variants.

BANKING MEMBERS:
Externa à Instituição - LETICIA DA CONCEIÇÃO BRAGA
Presidente - 1457505 - LUCIANA LARA DOS SANTOS
Externa à Instituição - MARIA RAQUEL SANTOS CARVALHO - UFMG
Notícia cadastrada em: 15/09/2023 15:53
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