Breast cancer (BC) is the most common cancer of women all over the world. BRCA1 and
BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for …

Since its description by L i and F raumeni over 40 years ago, L i–F raumeni syndrome (LFS)
remains one of the most striking familial cancer predisposition syndromes. Children and …

Genetic diversity of germline variants in breast cancer (BC) predisposition genes is
unexplored in miscegenated populations, such those living in Latin America. We evaluated …

Background: Female breast cancer (FBC) has become the most prevalent malignancy
worldwide. We aimed to evaluate the global and regional burden in epidemiological trends …

Li–Fraumeni syndrome (LFS) is a hereditary tumor that exhibits autosomal dominant
inheritance. LFS develops in individuals with a pathogenic germline variant of the cancer …

Approximately 10% of breast cancers are associated with the inheritance of a pathogenic
variant (PV) in one of the breast cancer susceptibility genes. Multiple breast cancer …

The etiologic contribution of germline genetic variation to sporadic osteosarcoma is not well
understood. Osteosarcoma is a sentinel cancer of Li-Fraumeni syndrome (LFS), in which …

The detection of germline mutations in BRCA1 and BRCA 2 is essential to the formulation of
clinical management strategies, and in Brazil, there is limited access to these services …

Background There are very few data about the mutational profile of families at-risk for
hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from …

Background Pathogenic variants (PVs) in BRCA1/2 genes account for∼ 6% of breast and
20% of ovarian cancers. Most breast tumors developed by BRCA1 carriers are triple …