Breast 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. We 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. The 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.

中文翻译：

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乳腺癌和肾癌同时发生的种系 rad 50 突变：罕见病例

据报道，乳腺癌与卵巢癌、子宫内膜癌甚至结肠癌同时发生。同时发生的肾癌很少见。它与 RAD 50 突变的关系尚不清楚。我们报告了一位 42 岁的女士，她接受了乳房肿块评估，并偶然发现了肾脏病变。她接受了两种手术，并被发现患有 T1c 乳腺肿瘤和肾细胞癌透明细胞变体。由于同步肿瘤和诊断时的年龄，建议她使用下一代测序和多重连接依赖性探针扩增进行种系测试。它揭示了 RAD 50 基因中可能存在的致病性变异。RAD 50 基因是 MRN 复合体（Mre11、Rad50 和 Nbs1，也称为 nibrin）的一部分，对于 DNA 修复至关重要。对于携带该基因致病变异的患者，随访和筛查的建议尚不清楚。此案因其稀有性而呈现。