Abstract
The prevalence of breast cancer in young women (YWBC) has increased alarmingly. Significant efforts are being made to elucidate the biological mechanisms concerning the development, prognosis, and pathological response in early-onset breast cancer (BC) patients. Dysfunctional DNA repair proteins are implied in BC predisposition, progression, and therapy response, underscoring the need for further analyses on DNA repair genes. Public databases of large patient datasets such as METABRIC, TCGA, COSMIC, and cancer cell lines allow the identification of variants in DNA repair genes and possible precision drug candidates. This study aimed at identifying variants and drug candidates that may benefit Latin American (LA) YWBC. We analyzed pathogenic variants in 90 genes involved in DNA repair in public BC datasets from METABRIC, TCGA, COSMIC, CCLE, and COSMIC Cell Lines Project. Results showed that reported DNA repair germline variants in the LA dataset are underrepresented in large databases, in contrast to other populations. Additionally, only six gene repair variants in women under 50 years old from the study population were reported in BC cell lines. Therefore, there is a need for new approaches to study DNA repair variants reported in young women from LA.
Highlights
Breast cancer (BC) is one of the main causes of death in women around the world [1], despite vast efforts to improve this outcome
Higher occurrences of triple-negative breast cancer (TNBC) and basal-like types are observed in YWBC, both associated with worse prognosis [10]
There is vast information supporting the participation of DNA repair genes in BC and their possible implication in predisposition, development, outcome, and therapy response
Summary
Breast cancer (BC) is one of the main causes of death in women around the world [1], despite vast efforts to improve this outcome. An increase in BC is observed in women with ages between 35 and 54 years [2,3]. In the United States, more than 12,000 women under 40 years old (y.o.) are diagnosed with BC each year [4]. Besides the rising BC incidence in young women
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