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Pathogenic variants in  TP53  have been classically thought to cause Li-Fraumeni syndrome (LFS), a cancer predisposition with high risks for various childhood- and adult-onset malignancies. However, increased genetic testing has lately revealed, that pathogenic variant carriers exhibit a broader range of phenotypes and that penetrance may be dependent both on variant type and modifiers. Using next generation sequencing and short tandem repeat analysis, we identified germline pathogenic variants in  TP53  and  RAD51C  located in  cis  on chromosome 17 in a 43-year-old male, who has developed a rare sebaceous gland carcinoma (SGC) but so far no tumors of the LFS spectrum. This course mirrors a  Trp53 - Rad51c -double-mutant  cis  mouse-model, which similarly develops SGC, while the characteristic  Trp53 -associated tumor spectrum occurs with significantly lower frequency. Therefore, we propose that co-occurent pathogenic variants in  RAD51C  and  TP53  may predispose to SGC, reminiscent of Muir-Torre syndrome. Further, this report supports the diversity of clinical presentations associated with germline  TP53  alterations, and thus, the proposed expansion of LFS to heritable  TP53 -related cancer syndrome.

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas