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The basis is a germline mutation of <jats:italic>TP53<\/jats:italic> gene which encodes tumor suppressor protein resulting in early onset of tumors, most often breast cancer, soft tissue sarcomas, brain tumors, adrenocortical carcinomas, and leukemia.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case report<\/jats:title>\n                <jats:p>We present a case of a young woman with a positive family history for cancer diagnosed with malignant solitary fibrous tumor and luminal B-like invasive breast cancer. Breast cancer and sarcomas account for the majority of tumors associated with Li-Fraumeni syndrome, yet solitary fibrous tumor is a rare clinical entity with no established guidelines for treatment. Even though both primary tumors were successfully resected, the sarcoma relapsed in the form of lung metastases. The NGS analysis revealed single nucleotide variant (c.1101-1G&gt;A) in <jats:italic>TP53<\/jats:italic> gene, affecting the acceptor splice site at intron 10. Until now, only one case of this genetic variant has been documented with conflicting interpretations of pathogenicity.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The knowledge of <jats:italic>TP53<\/jats:italic> mutation status is essential since the management of these patients requires different approach to avoid excessive toxicity due to the risk of developing secondary malignancy. Using the clinical criteria to screen for affected individuals facilitates appropriate early genetic counseling of patients and their families. Following the American College of Medical Genetics criteria, we believe that the reported single nucleotide variant (c.1101-1G&gt;A) in <jats:italic>TP53<\/jats:italic> gene should be considered pathogenic.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12957-021-02370-8","type":"journal-article","created":{"date-parts":[[2021,8,27]],"date-time":"2021-08-27T19:03:03Z","timestamp":1630090983000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor"],"prefix":"10.1186","volume":"19","author":[{"given":"Juraj","family":"Prejac","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0505-4756","authenticated-orcid":false,"given":"Natalija","family":"Dedi\u0107 Plaveti\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Gotovac Jer\u010di\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran","family":"Borove\u010dki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,8,27]]},"reference":[{"issue":"18","key":"2370_CR1","first-page":"5358","volume":"48","author":"FP Li","year":"1988","unstructured":"Li FP, Fraumeni JF Jr, Mulvihill JJ, et al. 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Consent was obtained from the patient for participation in this study in May 2020.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"We obtained the patient\u2019s consent for publication of this case report in May 2020.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors have no competing interests relevant to this article.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"254"}}