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

2Citations
Citations of this article
20Readers
Mendeley users who have this article in their library.

Abstract

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.

References Powered by Scopus

Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?

1268Citations
N/AReaders
Get full text

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

669Citations
N/AReaders
Get full text

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

575Citations
N/AReaders
Get full text

Cited by Powered by Scopus

p53 Function and Dysfunction in Human Health and Diseases

4Citations
N/AReaders
Get full text

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario

1Citations
N/AReaders
Get full text

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Cite

CITATION STYLE

APA

da Silva, P. F. F., Goveia, R. M., Teixeira, T. B., Gamba, B. F., de Lima, A. P., Rogatto, S. R., & Silveira-Lacerda, E. de P. (2022). TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes. Biomolecules, 12(5). https://doi.org/10.3390/biom12050640

Readers' Seniority

Tooltip

PhD / Post grad / Masters / Doc 4

80%

Professor / Associate Prof. 1

20%

Readers' Discipline

Tooltip

Biochemistry, Genetics and Molecular Bi... 2

40%

Nursing and Health Professions 2

40%

Immunology and Microbiology 1

20%

Save time finding and organizing research with Mendeley

Sign up for free