| Full text | |
| Author(s): Show less - |
Maistro, Simone
;
Teixeira, Natalia
;
Encinas, Giselly
;
Hirata Katayama, Maria Lucia
;
Tavares Niewiadonski, Vivian Dionisio
;
Cabral, Larissa Garcia
;
Ribeiro, Roberto Marques
;
Gaburo Junior, Nelson
;
Ribeiro Chaves de Gouvea, Ana Carolina
;
Carraro, Dirce Maria
;
Sabino, Ester Cerdeira
;
Estevez Diz, Maria del Pilar
;
Chammas, Roger
;
de Bock, Geertruida Hendrika
;
Azevedo Koike Folgueira, Maria Aparecida
Total Authors: 15
|
| Document type: | Journal article |
| Source: | BMC CANCER; v. 16, DEC 3 2016. |
| Web of Science Citations: | 14 |
| Abstract | |
Background: Approximately 8-15% epithelial ovarian cancer patients are BRCA1 or BRCA2 germline mutation carriers. Brazilian inhabitants may have peculiar genetic characteristics associated with ethnic diversity, and studies focusing on the entire BRCA1/BRCA2 gene sequencing in Brazilian ovarian cancer patients are still lacking. The aim of this study was to evaluate BRCA1/2 mutations, through entire gene sequencing, in a Brazilian population of women with epithelial ovarian cancer. Methods: In a cross sectional study performed in one reference centre for cancer treatment in Sao Paulo, Brazil, 100 patients diagnosed with epithelial ovarian cancer unselected for family history of breast and/or ovarian cancer were included. The complete coding sequence of BRCA1/2 genes was evaluated through Next-Generation or capillary sequencing. Large deletions were investigated through Multiplex Ligation-dependent Probe Amplification (MLPA). Results: Nineteen pathogenic mutations (BRCA1: n = 17 and BRCA2: n = 2) featuring 14 different mutations, including two large deletions in BRCA1 (exon 1-2 deleted and exon 5-7 deleted) were identified. Three mutations were detected more than once (c.3331\_3334delCAAG, c.5266dupC and c.4484G > T). Two novel frameshift mutations were identified, one in BRCA1 (c.961\_962delTG) and one in BRCA2 (c.1963\_1963delC). BRCA1/2 mutations were seen in 35.5% of the patients with first and/or second-degree relatives with breast and/or ovarian cancer. Nineteen variants of uncertain significance (VUS) were detected (BRCA1: n = 2 and BRCA2: n = 17), including five distinct missense variants (BRCA1: c. 5348 T > C; BRCA2: c.2350A > G, c.3515C > T, c.7534C > T, and c.8351G > A). Conclusions: Among epithelial ovarian cancer patients unselected for family history of cancer, 19% were BRCA1/2 germline mutation carriers. Almost 3/4 of the BRCA mutations, including two large deletions, were detected only once. Our work emphasizes the need of entire gene sequencing and MLPA screening in Brazil. (AU) | |
| FAPESP's process: | 11/09572-1 - Somatic and Germline Mutations in Young Patients with Breast Cancer |
| Grantee: | Giselly Encinas Zanetti |
| Support Opportunities: | Scholarships in Brazil - Doctorate |