4.7 Article

TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes

Journal

BIOMOLECULES
Volume 12, Issue 5, Pages -

Publisher

MDPI
DOI: 10.3390/biom12050640

Keywords

TP53; breast cancer; Li-Fraumeni syndrome; cancer predisposition

Funding

  1. National Council for Scientific and Technological Development (CNPq)
  2. Coordination for the Improvement of Higher Education Personnel (CAPES)
  3. Foundation for Research Support of the State of Goias (FAPEG) [201710267001232]

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TP53 gene mutations are associated with breast cancer. A study of 83 breast cancer patients in the Midwest region of Brazil found that 4 patients had pathogenic variants in the TP53 gene, highlighting the importance of genetic testing in this group.
TP53 gene mutation is the most common genetic alteration in human malignant tumors and is mainly responsible for Li-Fraumeni syndrome. Among the several cancers related to this syndrome, breast cancer (BC) is the most common. The TP53 p.R337H germline pathogenic variant is highly prevalent in Brazil's South and Southeast regions, accounting for 0.3% of the general population. We investigated the prevalence of TP53 germline pathogenic variants in a cohort of 83 BC patients from the Midwest Brazilian region. 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 (LFL) syndromes criteria. The samples were tested using next generation sequencing for TP53. Three patients harbored TP53 missense pathogenic variants (p.Arg248Gln, p.Arg337His, and p.Arg337Cys), confirmed by Sanger sequencing. One (1.2%) patient showed a large TP53 deletion (exons 2-11), which was also confirmed. The p.R337H variant was detected in only one patient. In conclusion, four (4.8%) early-onset breast cancer patients fulfilling the HBOC and LFL syndromes presented TP53 pathogenic variants, confirming the relevance of genetic tests in this group of patients. In contrast to other Brazilian regions, TP53 p.R337H variant appeared with low prevalence.

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