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06.10.2018 | Review

BRCA mutations: is everything said?

verfasst von: 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

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 1/2019

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Abstract

Background

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.

Aim

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.

Results

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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Titel: BRCA mutations: is everything said?
verfasst von: 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
Publikationsdatum: 06.10.2018
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 1/2019
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-018-4986-5

Springer Medizin

BRCA mutations: is everything said?

Abstract

Background

Aim

Results

Neu im Fachgebiet Onkologie

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

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ICI-Therapie in der Schwangerschaft wird gut toleriert

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Springer Medizin

Abstract

Background

Aim

Results

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