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Hereditary Cancer in Clinical Practice
Published in: Hereditary Cancer in Clinical Practice 1/2013

Open Access 01-12-2013 | Review

Hereditary breast cancer: ever more pieces to the polygenic puzzle

Authors: Natalia Bogdanova, Sonja Helbig, Thilo Dörk

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2013

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Abstract

Several susceptibility genes differentially impact on the lifetime risk for breast cancer. Technological advances over the past years have enabled the detection of genetic risk factors through high-throughput screening of large breast cancer case–control series. High- to intermediate penetrance alleles have now been identified in more than 20 genes involved in DNA damage signalling and repair, and more than 70 low-penetrance loci have been discovered through recent genome-wide association studies. In addition to classical germ-line mutation and single-nucleotide polymorphism, copy number variation and somatic mosaicism have been proposed as potential predisposing mechanisms. Many of the identified loci also appear to influence breast tumour characteristics such as estrogen receptor status. In this review, we briefly summarize present knowledge about breast cancer susceptibility genes and discuss their implications for risk prediction and clinical practice.
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Metadata
Title
Hereditary breast cancer: ever more pieces to the polygenic puzzle
Authors
Natalia Bogdanova
Sonja Helbig
Thilo Dörk
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2013
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-11-12

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