Cancers, Volume 10, Issue 11
2018 November - 69 articles
Cover Story: In hereditary cancer, carriers of a pathogenic variant in BRCA1 or BRCA2 are at a substantially higher risk of developing breast and ovarian cancers, amongst others. There is a remarkable level of genetic heterogeneity between and within populations of Latin America and the Caribbean, which may impact the presentation of hereditary cancer syndromes. For the first time, we report the prevalence and mutation spectrum characterizing BRCA-associated cancers in an unselected group of breast cancer cases from Puerto Rico. Interestingly, we uncovered a recurrent founder mutation in BRCA2 explaining the vast majority of the cases, which likely originated from European ancestors. This study will inform cancer risk assessment and carrier screening in this population, taking into account its unique genetic makeup. View this paper - Issues are regarded as officially published after their release is announced to the table of contents alert mailing list .
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