A clinical case of multiple primary cancers in a carrier of rare SDK2 and NOTCH2 gene mutations

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 received complex treatment on basis National Medical Research Centre Oncology left soft tissues thigh. The patient was referred consultation geneticist. Among direct relatives, maternal aunt history kidney not carrier studied single nucleotide polymorphisms (SNPs). healthy son inherited both mutations. Conclusion Thus, perhaps described case, there synergistic effect two alleles moderate low penetrance, led phenotype cancers.