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

ABSTRACT:

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.4

SUBMITTER: Dodova RI 

PROVIDER: S-EPMC4504066 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature