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

• Published in: BMC cancer Vol. 19; no. 1; p. 4
• Main Authors: Cotrim, Deborah Porto, Ribeiro, Adriana Regina Gonçalves, Paixão, Daniele, de Queiroz Soares, Diogo Cordeiro, Jbili, Rima, Pandolfi, Natasha Carvalho, Cezana, Camila, de Cássia Mauro, Carine, Mantoan, Henrique, Bovolim, Graziele, de Brot, Louise, Torrezan, Giovana Tardin, Carraro, Dirce Maria, Baiocchi, Glauco, da Cruz Formiga, Maria Nirvana, da Costa, Alexandre A B A
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 03-01-2019; BioMed Central; BMC
• Subjects: Adult; Aged; Analysis; Brazil; Brazil - epidemiology; BRCA genes; BRCA1 and BRCA2 germline mutations; BRCA1 protein; BRCA1 Protein - genetics; BRCA2 protein; BRCA2 Protein - genetics; Breast cancer; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Cancer diagnosis; Cancer genetics; Cancer patients; Cancer research; Carcinoma; Carcinoma - epidemiology; Carcinoma - genetics; Carcinoma - pathology; Female; Gene mutation; Genes; Genetic aspects; Genetic counseling; Genetic Predisposition to Disease; Genetic research; Genetic screening; Genetic Testing; Genomics; Germ-Line Mutation - genetics; Glycine; Health risk assessment; Heterozygote; Humans; Laboratories; Medical genetics; Middle Aged; Mutation; Ovarian cancer; Ovarian carcinoma; Ovarian Neoplasms - epidemiology; Ovarian Neoplasms - genetics; Ovarian Neoplasms - pathology; Prevalence; Prevalence studies (Epidemiology); Women's health; Brazil; Brazil; Prevalence; BRCA1 and BRCA2 germline mutations; Ovarian cancer
• ISSN: 1471-2407; 1471-2407
• DOI: 10.1186/s12885-018-5235-3

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.
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.
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).
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.