Abstract
BackgroundBRCA1/2 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.MethodsIn 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.ResultsAmong 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).ConclusionPrevalence 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.
Highlights
BRCA1/2 pathogenic (P) and likely pathogenic (LP) germline variants are frequent among patients with ovarian carcinoma
Patients It is a retrospective cohort study including all consecutive patients with ovarian carcinoma tested for BRCA1 and BRCA2 germline mutations seen for genetic counseling in the Oncogenetics Department at A.C
Median age was 54.7 years (IQR = 43.1 years to 67.7 years), 70.3% presented high grade serous carcinoma (HGSC), 23.3% presented at International Federation of Gynecology and Obstetrics (FIGO) stages I or II and 80.7% presented at FIGO stages III or IV
Summary
BRCA1/2 pathogenic (P) and likely pathogenic (LP) germline variants are frequent among patients with ovarian carcinoma. These variants have not been extensively characterized in patients with ovarian cancer in Brazil. In the United States, 22,240 new cases and 14,070 deaths due to ovarian cancer are expected, making it as the 5th most lethal cancer among women [1]. Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occur most often in the presence of germline BRCA1 or BRCA2 pathogenic variants. In the last decade the emergence of PARP inhibitors expanded the importance of BRCA pathogenic variants detection to prevention and to treatment of ovarian cancer patients [7,8,9]
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