Homologous recombination (HR) is a highly conserved DNA repair mechanism that protects
cells from exogenous and endogenous DNA damage. Breast cancer 1 (BRCA1) and breast …

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

PURPOSE The objective of this review was to address the barriers limiting access to genetic
cancer risk assessment and genetic testing for individuals with suspected hereditary breast …

Abstract Background The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs
in families with a history of breast/ovarian cancer, presenting an autosomal dominant …

PURPOSE To report on pathogenic germline variants detected among individuals
undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin …

Brazil is the largest country in South America and the most genetically heterogeneous. The
aim of the present study was to determine the prevalence of germline pathogenic variants …

Over the last two decades, numerous BARD1 mutations/pathogenic variants (PVs) have
been found in patients with breast cancer (BC) and ovarian cancer (OC). However, their role …

Despite the high prevalence of TP53 pathogenic variants (PV) carriers in the South and
Southeast regions of Brazil, germline genetic testing for hereditary breast cancer (HBC) is …

Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes are present in about 50% of
cases of hereditary breast cancer. Proteins encoded by these genes are key players in DNA …

Breast cancer is the most common cancer in women, and its high mortality has become one
of the biggest health problems globally. Several studies have reported an association …