IMR Press / FBL / Volume 18 / Issue 4 / DOI: 10.2741/4185

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Review

Breast cancer genes: beyond BRCA1 and BRCA2

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1 Genetic Unit, Institute of Legal Medicine and Genomic Medicine Group, USC Faculty of Medicine, Spain
2 Health Sciences University, Faculty of Medicine, Genetics and Genomic Medicine Departments, University of Business and Social Sciences, UCES, Buenos Aires, Argentina
3 Galician Public Foundation of Genomic Medicine(FPGMX) -SERGAS, Genomic Medicine Group-USC, CIBER-ER, IDIS, Santiago de Compostela, Spain
Academic Editor:Adriana De Siervi
Front. Biosci. (Landmark Ed) 2013, 18(4), 1358–1372; https://doi.org/10.2741/4185
Published: 1 June 2013
(This article belongs to the Special Issue BRCA1 and BRCA2 role in cancer)
Abstract

Breast cancer (BC) is a heterogeneous disease. The majority of breast cancer cases (about 70 percent) are considered sporadic. Familial breast cancer (about 30 percent of patients), often seen in families with a high incidence of BC, has been associated with a number of high-, moderate-, and low-penetrance susceptibility genes. Family linkage studies have identified high-penetrance genes, BRCA1, BRCA2, PTEN and TP53, that are responsible for inherited syndromes. Moreover, a combination of family-based and population-based approaches indicated that genes involved in DNA repair, such as CHEK2, ATM, BRIP1 (FANCJ), PALB2 (FANCN) and RAD51C (FANCO), are associated with moderate BC risk. Genome wide association studies (GWAS) in BC revealed a number of common low penetrance alleles associated with a slightly increased or decreased risk of BC. Currently, only high penetrance genes are used in clinical practice on a wide scale. Due to the development of next generation sequencing technologies, it is envisaged that all familial breast cancer genes will be included in the genetic test. However, additional research in clinical management of moderate and low-risk variants is needed before full implementation of multi-gene panel testing into clinical work-flows. In this review, we focus on the different components of familial breast cancer risk.

Keywords
Hereditary Breast Ovarian Cancer Syndrome
BRCA1
BRCA2
Fanconi Anemia genes
breast cancer genes
genetic diagnosis
Review
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