Breast Cancer Research and Treatment

, Volume 173, Issue 1, pp 49–54 | Cite as

BRCA mutations: is everything said?

  • Eduardo López-UrrutiaEmail author
  • Victor Salazar-Rojas
  • Luis Brito-Elías
  • Misael Coca-González
  • Jonathan Silva-García
  • David Sánchez-Marín
  • Alma D. Campos-Parra
  • Carlos Pérez-PlasenciaEmail author



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.


Breast cancer risk BRCA1 BRCA2 Mutation Complex traits 



This study was funded by DGAPA-PAPIIT, Universidad Nacional Autónoma de México with Grant Number IA201216, awarded to E.L-U. and grant number IN207216, awarded to C.P-P.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Supplementary material

10549_2018_4986_MOESM1_ESM.xlsx (41 kb)
Journal articles published between 1994 and 2017 that describe new BRCA 1 and BRCA 2 mutations. Supplementary material 1 (XLSX 40 KB)
10549_2018_4986_MOESM2_ESM.xlsx (21 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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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Laboratorio de Genómica Funcional, Unidad de BiomedicinaFES-IZTACALA, UNAMTlalnepantlaMexico
  2. 2.Laboratorio de Bioquímica Molecular, Unidad de Biotecnología y PrototiposFES-IZTACALA, UNAMTlalnepantlaMexico
  3. 3.Laboratorio de GenómicaInstituto Nacional de CancerologíaTlalpanMexico

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