Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.

Autor: Cotrim DP; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil., Ribeiro ARG; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil., Paixão D; Department of Oncogenetics, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil., de Queiroz Soares DC; Department of Oncogenetics, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil., Jbili R; Department of Oncogenetics, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil., Pandolfi NC; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil., Cezana C; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil., de Cássia Mauro C; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil., Mantoan H; Department of Gynecologic Oncology, AC Camargo Cancer Center, São Paulo, Brazil., Bovolim G; Department of Pathology, AC Camargo Cancer Center, São Paulo, Brazil., de Brot L; Department of Pathology, AC Camargo Cancer Center, São Paulo, Brazil., Torrezan GT; Genomics and Molecular Biology Laboratory, AC Camargo Cancer Center, São Paulo, Brazil., Carraro DM; Genomics and Molecular Biology Laboratory, AC Camargo Cancer Center, São Paulo, Brazil., Baiocchi G; Department of Gynecologic Oncology, AC Camargo Cancer Center, São Paulo, Brazil., da Cruz Formiga MN; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil.; Department of Oncogenetics, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil., da Costa AABA; Department of Medical Oncology, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil. alexandreandredacosta@gmail.com.; Department of Oncogenetics, AC Camargo Cancer Center, Rua Professor Antonio Prudente 211, São Paulo, CEP: 01509-900, Brazil. alexandreandredacosta@gmail.com.
Jazyk: angličtina
Zdroj: BMC cancer [BMC Cancer] 2019 Jan 03; Vol. 19 (1), pp. 4. Date of Electronic Publication: 2019 Jan 03.
DOI: 10.1186/s12885-018-5235-3
Abstrakt: Background: BRCA1/2 pathogenic (P) and likely pathogenic (LP) germline variants are frequent among patients with ovarian carcinoma. However, these variants have not been extensively characterized in patients with ovarian cancer in Brazil.
Methods: In this retrospective study we evaluated clinical characteristics and BRCA1/2 genetic test results from patients with ovarian carcinoma who underwent genetic counseling at A.C.Camargo Cancer Center (Brazil) between 2015 and 2017 and had performed germline genetic testing of BRCA1/2 genes.
Results: Among 158 patients, 33 P and LP variants and were found (20.8%), 27 in BRCA1 and six in BRCA2, and six variants of unknown clinical significance (VUS). Thirteen percent of the patients did not have Multiplex Ligation-dependent Probe Amplification (MLPA) results. Three P variants in BRCA1 were found in more than one patient: c.5266dupC (p.Gln1756Profs*74), c.3331_3334delCAAG (p.Gln1111Asnfs5*), and c.211A > G (p.Arg71Gly). One LP variant in BRCA1 had not been previously described, c.4153_4154delCT (p.Leu1385Ilefs*5). Patients with previous diagnosis of breast cancer were carriers of P or LP variant in 8 of 12 cases (66.7%), and patients with a family history of ovarian or breast cancer in first- or second-degree relatives were carriers of P or LP variant in 26.7% of cases compared to 16.9% for patients without family history (p = 0.166).
Conclusion: Prevalence of BRCA1/2 germline P and LP variants is slightly higher than previously described by the largest occidental studies, with a high prevalence of variant c.5266dupC (p.Gln1756Profs*74) in BRCA1 observed. Moreover, we identified a new LP variant.
Databáze: MEDLINE
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