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06.10.2018 | Review

BRCA mutations: is everything said?

Breast Cancer Research and Treatment
Eduardo López-Urrutia, Victor Salazar-Rojas, Luis Brito-Elías, Misael Coca-González, Jonathan Silva-García, David Sánchez-Marín, Alma D. Campos-Parra, Carlos Pérez-Plasencia
Wichtige Hinweise

Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1007/​s10549-018-4986-5) contains supplementary material, which is available to authorized users.



Mutations in the BRCA1 and BRCA2 genes constitute a risk factor for breast cancer development. BRCA mutation research has been an active field since the discovery of the genes, and new mutations in both genes are constantly described and classified according to several systems.


We intend to provide an overview of the current state of BRCA1 and BRCA2 mutation description and classification. We wanted to know whether there was a trend towards a more frequently described mutation type and what the proportion of pathogenic mutations was.


We found that, although new mutations are described each year as reflected in current database records, very few of them are reported in papers. Classification systems are highly heterogeneous and a consensus among them is still under development. Regarding their function, a large number of mutations are yet to be analyzed, a very complex task, due to the great number of possible variations and their diverse effect in the BRCA gene functions. After individual analysis, many variants of unknown significance turn out to be pathogenic, and many can disrupt interactions with other proteins involved in mechanisms such as DNA damage repair pathways. Recent data suggest that looking for mutation patterns or combinations would shed a wider light on BRCA-derived cancer susceptibility in the upcoming years.

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Journal articles published between 1994 and 2017 that describe new BRCA 1 and BRCA 2 mutations. Supplementary material 1 (XLSX 40 KB)
Journal articles published between 1994 and 2017 that describe cancer risk analysis of BRCA 1 and BRCA 2 VUS. Supplementary material 2 (XLSX 20 KB)
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