Abstract
It is known that genetic predisposition can increase susceptibility to the development of cancers. The development of new generation sequencing (NGS) has enabled the wider availability of the multigenes panel related to breast cancer. For example, the RAD51D that is part of one of the 5 parallels of the RAD51 genes related to DNA repair. These are rare mutations and attribute an increased risk of ovarian cancer and a potential increased risk in triple negative breast cancer. In this paper, we report the case of a female patient, healthy, 31 years old. She had a palpable nodule in the right breast and ultrasound findings of BI-RADS 4. The biopsy revealed an invasive triple negative tumor of the breast and staging pT2pN0M0 (IIA). After negativity of molecular changes in the BRCA1 and BRCA2 genes, she decided to perform the NGS. Sequence data were compared with the GRCh37 / hg19 version of the human genome. The same revealed a pathogenic alteration in heterozygosity in the RAD51D gene. There is still insufficient scientific evidence to state that the RAD51D gene is related to breast cancer. Inferring a need for further studies in the area.