Banca de QUALIFICAÇÃO: JESSICA DAYANNA LANDIVAR COUTINHO

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : JESSICA DAYANNA LANDIVAR COUTINHO
DATE: 15/12/2022
TIME: 17:00
LOCAL: Sala de reuniões - CB/UFRN.
TITLE:

Clinical indicators in Genetic Counseling in Oncology

KEY WORDS:

genetic counseling; oncogenetics; hereditary cancer;

PAGES: 45
BIG AREA: Ciências da Saúde
AREA: Medicina
SUBÁREA: Saúde Materno-Infantil
SUMMARY:

Oncogenetic counseling (OGC) has become a pivotal health preventive strategy service to manage high-risk patients for hereditary cancer in the genomic era. Identifying high-risk cancer variants in asymptomatic carriers and controlling their risk has been shown to reduce breast cancer and mortality. Brazil is a continental middle-income country with an admixture population that are suggested to have the highest internal genetic variation of sampled populations. The present study aims to evaluate clinical, sociodemographic and behavioral indicators in high-risk patients undergoing OGC for hereditary cancer since 2009, in a cancer care hospital. The service has received 139 patients, where 69.5% of the patients did not finish high school, 89.3% had less than 60 y; 91% had breast cancer as a primary diagnosis and 23.7% carries a germline variant in high-risk genes. The 5 years overall survival was 88.6%, with no significant difference between patients with germline mutation (95% CI, p = 0.138). After OGC, 90.9% and 73.3% of the patients had mild/normal score for depression and anxiety, respectively, and regardless of age at diagnosis. Moreover, the decision of undergoing risk-reducing mastectomy (RRM) was not influenced by the depressive or anxious symptoms. However, 79.8% of women aged more than 60y did not present willingness to undergo RRM. Among patients with pathogenic variant, 58% state that the diagnosis of germline mutation was able to modify unhealth habits. 91.7% of the women could understand the meaning of germline mutation and the implications to their and family’s health, however, this was directly related to the education level. These results reaffirm the challenges of OGC in an underdeveloped region of the country with high parental consanguinity, phenotypic heterogeneity and highlight the cancer health disparity that exists for the high-risk population.

COMMITTEE MEMBERS:
Presidente - 1714243 - DANIELLA REGINA ARANTES MARTINS SALHA
Interna - 1055045 - MARCELA ABBOTT GALVAO URURAHY
Externo à Instituição - KLEYTON SANTOS DE MEDEIROS