| Full text | |
| Author(s): Show less - |
Bandeira, Gabriel
[1]
;
Rocha, Katia
[1]
;
Lazar, Monize
[1]
;
Ezquina, Suzana
[1]
;
Yamamoto, Guilherme
[1, 2]
;
Varela, Monica
[1]
;
Takahashi, Vanessa
[1]
;
Aguena, Meire
[1]
;
Gollop, Thomaz
[3]
;
Zatz, Mayana
[1]
;
Passos-Bueno, Maria Rita
[1]
;
Krepischi, Ana
[1]
;
Okamoto, Oswaldo Keith
[1]
Total Authors: 13
|
| Affiliation: | [1] Univ Sao Paulo, Dept Genet & Biol Evolut, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco, Cidade Univ, Rua Matao 277, BR-05508090 Sao Paulo, SP - Brazil
[2] Univ Sao Paulo, Genet Unit, Fac Med, Childrens Inst, Clin Hosp, Sao Paulo - Brazil
[3] Fac Med Jundiai, Dept Gynecol & Obstet, Sao Paulo - Brazil
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | BREAST CANCER; v. 28, n. 2, p. 346-354, MAR 2021. |
| Web of Science Citations: | 0 |
| Abstract | |
Background It is estimated that 5-10% of breast cancer cases are hereditary. The identification of pathogenic germline variants allows individualized preventive health care, improvement of clinical management and genetic counseling. Studies in ethnically admixed Latin American populations have identified regions with increased frequency of deleterious variants in breast cancer predisposing genes. In this context, the Brazilian population exhibits great genetic heterogeneity, and is not well represented in international databases, which makes it difficult to interpret the clinical relevance of germline variants. Methods We evaluated the frequency of pathogenic/likely pathogenic (P/LP) germline variants in up to 37 breast cancer predisposing genes, in a cohort of 105 breast and/or ovarian cancer Brazilian women referred to two research centers between 2014 and 2019. Results A total of 22 patients (21%) were found to carry P/LP variants, and 16 VUS were detected in 15 patients (14.3%). Additionally, a novel pathogenicATMintragenic deletion was identified in an early-onset breast cancer. We also detected aBRCA1pathogenic variant (c.5074+2T>C) in higher frequency (10x) than in other studies with similar cohorts. Conclusions Our findings contribute to the characterization of the genetic background of breast cancer predisposition in the Brazilian population as a useful resource to discriminate between deleterious variants and VUS, thus enabling improvement in the preventive health care and clinical management of carriers. (AU) | |
| FAPESP's process: | 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center |
| Grantee: | Mayana Zatz |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |