Germline rad 50 mutation in a case with synchronous breast and kidney cancer: a rare case

Abstract

BackgroundBreast cancer has been reported to occur synchronous with ovarian, endometrial and even colon cancers. A synchronous renal cancer is rare. And its association with RAD 50 mutation is not known.Case presentationWe are reporting a 42 year old lady who was evaluated for a breast lump and was incidentally found to have a renal lesion. She underwent surgery for both and was found to have a T1c breast tumour and a renal cell carcinoma-clear cell variant. She was advised germline testing with next generation sequencing and multiplex ligation—dependent probe amplification due to synchronous tumours and age at diagnosis. It revealed a likely pathogenic variant in the RAD 50 gene.ConclusionThe RAD 50 gene is part of the MRN complex (Mre11, Rad50 and Nbs1 also known as nibrin), which is essential for DNA repair. The recommendations for follow-up and screening are not clear for patients with a pathogenic variant of the gene. This case is presented for its rarity.