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Banca de DEFESA: MARCUS VINÍCIUS GONÇALVES ANTUNES

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : MARCUS VINÍCIUS GONÇALVES ANTUNES
DATE: 26/03/2024
TIME: 13:00
LOCAL: meet.google.com/bpr-achx-uuj
TITLE:

Using and Comparing Two Pipelines Bioinformatics in the investigation of molecular bases Hereditary Breast and Ovarian Cancer Syndrome in Minas Gerais

KEY WORDS:

HBOC, Genetic testing, Bioinformatics.

PAGES: 137
BIG AREA: Ciências da Saúde
AREA: Farmácia
SUMMARY:

Cancer is becoming one of the leading causes of death globally, and in Brazil

the INCA (National Cancer Institute) estimates about 704 thousand cases for the

triennium from 2023 to 2025, including 74 thousand cases of female breast cancer

and approximately 7.3 thousand cases of ovarian cancer. Genetic factors play a

crucial role, with 10 to 15% of ovarian cancer cases and 5 to 10% of breast cancer

cases related to germline mutations in various genes, characterizing the hereditary

breast and ovarian cancer syndrome (HBOC). This study aims to optimize

bioinformatics tools to analyze data generated by NGS sequencing of a multigene

panel consisting of 22 genes (including 3' and 5' UTR, exons, and splicing sites),

with the objective of studying the molecular profile of hereditary cancer syndromes in

the Central-West region of Minas Gerais and serving oncological patients

accompanied by the Unified Health System (SUS). Two distinct pipelines were used

for bioinformatics analysis: the DNA Amplicon application (Illumina) and another

based on the Genome Analysis Toolkit (GATK) recommendations, called the

'independent pipeline'. Throughout the project, 86 samples were sequenced,

generating over 26 million reads, with 96.7% presenting a Phred score higher than

Q30. Evaluations of the quality metrics of the files after sequencing, alignment, and

variant calling were performed, resulting in an average vertical coverage of 200X,

horizontal coverage 20X greater than 90%, an average Ti/Tv ratio of about 2.3, and

41% GC content. In total, 17 pathogenic/probably pathogenic variants and 12

variants of uncertain significance (VUS) were identified, mainly in the BRCA1/2 and

ATM genes, respectively. Statistical analyses demonstrated comparable efficacy

between the pipelines used, despite the greater read support for variants identified

by DNA Amplicon and the higher number of artifact variants found by the

independent pipeline.

BANKING MEMBERS:
Presidente - 1457505 - LUCIANA LARA DOS SANTOS
Externo ao Programa - 3295713 - ISRAEL JOSE PEREIRA GARCIA
Externo à Instituição - RENNAN GARCIAS MOREIRA - UFMG

Notícia cadastrada em: 22/03/2024 09:35