Importance of a hereditary cancer program in brazilian northeast

Carneiro, Vandré Cabral Gomes; Ramalho, Nathalia Moreira; Ferreira, Caroline de Oliveira; Araujo, Carolline; Fonseca, H.A.; Salgado, M. Ramos Terjo; Neto, Meyer; Lucena, M Angelica; Lima, J. Telles de Oliveria; Santos, Cleusa Lapa; Azevedo, Carla; Tancredi, Richard; Batista, Thales Paulo; Filho, Darley de Lima Ferreira; Silva, M. José de Matos e; Costa, Irene Da

doi:10.1016/j.ejso.2018.10.319

European Journal of Surgical Oncology

2019

DOI: 10.1016/j.ejso.2018.10.319

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Importance of a hereditary cancer program in brazilian northeast

Vandré Cabral Gomes Carneiro

Nathalia Moreira Ramalho²,

Caroline de Oliveira Ferreira

et al.

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2024

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“…Identifying a germline mutation in BRCA1 and BRCA2 favors personalized treatments (e.g., poly ADP-ribose polymerase inhibitors), preventive strategies (e.g., genetic counseling, specific screening, and risk-reducing surgeries [e.g., salpingo-oophorectomy or mastectomy]), and a better cost-effective relationship for the health system [8][9][10].…”

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Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System

de Oliveira Ferreira,

Carneiro,

Araujo Mariz

2024

BMC Cancer

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Background Germline mutations in BRCA1 and BRCA2 genes are among the main causes of hereditary ovarian cancer. Identifying these mutations may reduce cancer risk, facilitate early detection, and enable personalized treatment. However, genetic testing is limited in the Brazilian Public Health System, and data regarding germline mutations in many regions are scarce. Therefore, the study aimed to investigate the prevalence of germline mutations in BRCA1 and BRCA2 in women with ovarian cancer treated in the Public Health System in Pernambuco, Brazil. Methods A cross-sectional study was conducted in the Hereditary Cancer Program from two reference oncological centers in Pernambuco. Women (n = 45) with high-grade serous ovarian cancer underwent genetic counseling and DNA sequencing for BRCA1 and BRCA2 genes. Results The prevalence of deleterious mutations in the BRCA1 and BRCA2 genes was 33%. Of the 15 germline mutations found, 13 were in BRCA1 and 2 in BRCA2; two mutations of unknown clinical significance were also found in BRCA2. Mutations c.5266dupC and c.2215 A > T were the most frequent; each was mutation observed in three patients. Additionally, the mutations c.7645dupT and c.921dupT were reported for the first time. Conclusion One in three women showed a pathogenic mutation, demonstrating a significant prevalence of germline mutations in this sample. Additionally, the small sample revealed an interesting number of mutations, indicating the need to explore more regions of the country.

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confidence: 99%

Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System

de Oliveira Ferreira,

Carneiro,

Araujo Mariz

2024

BMC Cancer

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Importance of a hereditary cancer program in brazilian northeast

Cited by 1 publication

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Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System

Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System

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