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Since the discovery of breast cancer genes BRCA1 and BRCA2 more than two decades ago, much has been accomplished in the field of breast cancer genetic predisposition thanks to high-throughput genotyping and next generation sequencing (NGS). On one hand, novel genes harbouring rare mutations causing high or ...

Since the discovery of breast cancer genes BRCA1 and BRCA2 more than two decades ago, much has been accomplished in the field of breast cancer genetic predisposition thanks to high-throughput genotyping and next generation sequencing (NGS). On one hand, novel genes harbouring rare mutations causing high or moderate risk for the disease have been detected with clinical validity; in addition, several single nucleotide polymorphisms (SNPs) that modify the breast cancer risk in individuals with a BRCA gene mutation are now known. These genetic factors are key elements for more efficient risk prdiction in a more ample fraction of familial cases. On the other hand, hundreds of common low-risk alleles are now known and could be incorporated into risk prediction models to improve the identification of women at high and low risk of breast cancer in the general population. Moreover, multifactorial analyses, family studies and other approaches have been developed to validate candidate genes, classify the variants of uncertain significance (VUS) detected by gene-panel NGS in clinical and research settings, and to measure with precision the risk magnitude conferred by known pathogenetic mutations. Manuscripts describing novel data, methods or collaborative initiatives or editorials and reviews in this area are welcome.

Keywords: Genetic predisposition to breast cancer, breast cancer risk estimate, NGS of gene-panel, VUS classification


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