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. 2017 Feb;4(1):10.15761/ICST.1000228.
doi: 10.15761/ICST.1000228. Epub 2017 Feb 27.

BRCA1 and BRCA2 mutations and treatment strategies for breast cancer

Inês Godet  1   2 , Daniele M Gilkes  1   2
Affiliations

BRCA1 and BRCA2 mutations and treatment strategies for breast cancer

Inês Godet et al. Integr Cancer Sci Ther. 2017 Feb.

Abstract

Breast cancer is a global burden with a woman's lifetime risk of developing breast cancer at 1 in 8. Although breast cancer is a disease that affects mostly women, the lifetime risk in men is about 1 in 1000. Most cases of breast cancer are associated with somatic mutations in breast cells that are acquired during a person's lifetime. In this scenario, the mutations are not inherited and they do not cluster in families. In hereditary breast cancer, the specific genetic factors involved will determine the inherited cancer risk. Inherited mutations in the BRCA1 or BRCA2 genes have been well-described, but mutations in ATM, CDH1, CHEK2, PALB2, PTEN, STK11, and TP53 also confer breast cancer risk. Understanding the functional significance of hereditary mutations has opened new paths for breast cancer prevention and is uncovering promising treatment strategies.

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Figures

Figure 1
Figure 1. Schematic representation of BRCA1 and BRCA2 genes
Figure 2
Figure 2
A) Schematic representation of BRCA1 and BRCA2 functions. B) Loss of second BRCA allele in a BRCA mutation carrier
See this image and copyright information in PMC

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