Abstract Background Genetic predisposition is one of the risk factors for development multiple primary cancers (MPCs), frequency which increases and ranges from 2 to 17%. This study describes a combination rare mutations, rs746551843 in NOTCH2 gene rs144933006 SDK2 gene, woman with breast cancer leiomyosarcoma without clearly burdened family history. Case presentation A 55-year-old Caucasian re...

Hereditary retinal dystrophies are clinically and genetically heterogeneous group of conditions, many which have similar symptoms functional findings, making correct diagnosis difficult. Bietti corneoretinal dystrophy is a rare form hereditary with an autosomal recessive mode inheritance. With this dystrophy, yellow-white crystals visualized on the retina progressive atrophy pigment epithelium,...