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Background  About 3885 women are diagnosed with breast cancer and 1285 die from the disease each year in Bulgaria. However no genetic testing to identify the mutations in high-risk families has been provided so far.    Methods  We evaluated 200 Bulgarian women with primary invasive breast cancer and with personal/ family history of breast cancer for the presence of unequivocally damaging germline mutations in  BRCA1/2  using Sanger sequencing.    Results  Of the 200 patients, 39 (19.5 %) carried a disease predisposing mutation, including 28 (14 %) with a  BRCA1  mutation and 11 (5.5 %) with a  BRCA2  mutation. At  BRCA1 , 6 different mutations were identified, including 2 frameshifts, 1 nonsense and 1 missense that had been previously reported (c.5030_5033delCTAA, c.5263_5264insC, c.4603G > T, c.181 T > G), and 2 frameshifts, which were novel to this study (c.464delA, c.5397_5403delCCCTTGG). At  BRCA2 , 7 different frameshift mutations were identified, including 5 previously reported (5851_5854delAGTT, c.5946delT, c.5718_5719delCT, c.7910_7914delCCTTT,c.9098_9099insA) and 2 novel (c.8532_8533delAA, c.9682delA).  A  BRCA1  mutation was found in 18.4 % of women diagnosed with breast cancer at/or under the age of 40 compared to 11.2 % of women diagnosed at a later age; a  BRCA2  mutation was found in 4 % of women diagnosed at/or under the age of 40 compared to 6.5 % of women diagnosed at a later age. A mutation was present in 26.8 % patients with a positive family history and in 14.4 % of women with a negative family history.  The most prevalent mutation observed in 22 patients (11 %) was  BRCA1  c.5263_5264insC, a known Slavic mutation with founder effect in Eastern European and AJ communities. Other recurrent mutations were  BRCA2  c.9098-9099insA (2 %),  BRCA1  c.181T > G (1 %) and  BRCA2  c.5851_5854delAGTT (1 %). Notably,  BRCA1  c.5263_5264insC represented 56 % of all mutations identified in this series. Of the 22 patients with  BRCA1  c.5263_5264insC, 9 were diagnosed with early onset breast cancer, 11 with TNBCs, 4 with bilateral breast cancer, and 6 with both breast and ovarian cancer.    Conclusions  This is the first comprehensive study of the  BRCA1/2  mutation spectrum in Bulgaria and will assist the establishment of efficient protocols for genetic testing and individualized risk assessment for Bulgarian breast/ovarian cancer patients and healthy individuals at a high-risk.    Electronic supplementary material  The online version of this article (doi:10.1186/s12885-015-1516-2) contains supplementary material, which is available to authorized users.

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients