Abstract
e13610Background: Genetic diversity among populations in the spectrum and frequency of germline variants in BRCA1/2 genes has been well documented. It is unclear whether this extends to other breas...
Highlights
Breast cancer (BC) is the most common cancer in women worldwide
We evaluated 1,662 Brazilian BC patients, who underwent hereditary multi-gene panel testing (20–38 cancer susceptibility genes), to determine the spectrum and prevalence of pathogenic variants (P/likely pathogenic (LP)) and variants of uncertain significance (VUS)
We report the results from 1,662 consecutive individuals with a history of BC who were referred for multi-gene panel testing
Summary
Breast cancer (BC) is the most common cancer in women worldwide. In Brazil, an average of 66,280 women are diagnosed with carcinoma of the breast every year, accounting for 29.7% of all cancers in the female population[1]. Inherited pathogenic variants in highly penetrant predisposition genes are thought to be involved in about 10% of BC cases. Among the hereditary forms, the most frequent events are germline pathogenic variants in BRCA1/2 genes which predispose to hereditary breast and ovarian cancer syndrome (HBOC). The prevalence and spectrum of BRCA1/2 pathogenic variants vary among different populations and are responsible for only approximately 25–50% of the familial risk of BC2–4. The mutational spectrum of germline mutations in BC predisposition genes have been reported in single populations, with the majority of reports focused on Caucasians from Europe and North America. The population from Southern Hemisphere countries, except for Australia, are underrepresented and understudied in cancer genetic epidemiology research[2]
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