Journal article : Review
Dissecting the heritable risk of breast cancer: from statistical methods to susceptibility genes
- Abstract:
- Decades of research have shown that rare highly penetrant mutations can promote tumorigenesis, but it is still unclear whether variants observed at high-frequency in the broader population could modulate the risk of developing cancer. Genome-wide Association Studies (GWAS) have generated a wealth of data linking single nucleotide polymorphisms (SNPs) to increased cancer risk, but the effect of these mutations are usually subtle, leaving most of cancer heritability unexplained. Understanding the role of high-frequency mutations in cancer can provide new intervention points for early diagnostics, patient stratification and treatment in malignancies with high prevalence, such as breast cancer. Here we review state-of-the-art methods to study cancer heritability using GWAS data and provide an updated map of breast cancer susceptibility loci at the SNP and gene level.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Preview, Accepted manuscript, 5.2MB, Terms of use)
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- Publisher copy:
- 10.1016/j.semcancer.2020.06.001
Authors
- Publisher:
- Elsevier
- Journal:
- Seminars in Cancer Biology More from this journal
- Volume:
- 72
- Pages:
- 175-184
- Publication date:
- 2020-06-19
- Acceptance date:
- 2020-06-02
- DOI:
- EISSN:
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1096-3650
- ISSN:
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1044-579X
- Pmid:
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32569822
- Language:
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English
- Keywords:
- Subtype:
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Review
- Pubs id:
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1116341
- Local pid:
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pubs:1116341
- Deposit date:
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2020-08-20
Terms of use
- Copyright holder:
- Elsevier
- Copyright date:
- 2020
- Rights statement:
- © 2020 Elsevier Ltd. All rights reserved.
- Notes:
- This is the accepted manuscript version of the article. The final version is available from Elsevier at: https://doi.org/10.1016/j.semcancer.2020.06.001
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