Abstract:Objective: We investigate the prevalence of TP53 germline pathogenic variants in a cohort of 83 breast cancer patients and 217 family members from the Midwest Brazilian region. Methods: All patients met the clinical criteria for hereditary breast and ovarian cancer syndrome (HBOC) and were negative for BRCA1 and BRCA2 mutations. Moreover, 40 index patients fulfilled HBOC and the Li-Fraumeni-like syndromes (LFL) criteria. The samples were tested using next-generation sequencing for TP53. Results: Three patients… Show more
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