The emerging landscape of breast cancer susceptibility
Abstract
The genetic basis of inherited predisposition to breast cancer has been assiduously investigated for the past two decades and has been the subject of several recent discoveries. Three reasonably well-defined classes of breast cancer susceptibility alleles with different levels of risk and prevalence in the population have become apparent: rare high-penetrance alleles, rare moderate-penetrance alleles and common low-penetrance alleles. The contribution of each component to breast cancer predisposition is still to be fully explored, as are the phenotypic characteristics of the cancers associated with them, the ways in which they interact, much of their biology and their clinical utility. These recent advances herald a new chapter in the exploration of susceptibility to breast cancer and are likely to provide insights relevant to other common, heterogeneous diseases.
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Low-penetrance alleles likely require additional modifier alleles and/or secondary hits.
“Instead, low-penetrant alleles likely require additional modifier alleles and/or secondary hits [57].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [57]
Low-penetrance alleles deviate from traditional genetic patterns: highly penetrant alleles typically segregate with disease, whereas moderately penetrant alleles do not.
“Highly penetrant alleles will typically segregate with disease, whereas moderately penetrant alleles will not.”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [57]
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- Authors
- Stratton, M. R., & Rahman, N.
- Affiliations
- Institute of Cancer Research (GB)
- Venue
- Nature Genetics
- Published
- 2007-12-27
- Volume
- 40
- Issue
- 1
- Pages
- 17-22
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2067993067
- Cited by
- 487
- References
- 56
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 10 · 2023: 13 · 2022: 17 · 2021: 28 · 2020: 20 · 2019: 25 · 2018: 28 · 2017: 25 · 2016: 32 · 2015: 33 · 2014: 32 · 2013: 46 · 2012: 32
- FWCI
- 17.69
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Keywords
- breast cancer susceptibility, genetic susceptibility, low-penetrance alleles, cancer risk, genetic heterogeneity
- MeSH terms
- Alleles, Breast Neoplasms, Female, Humans, Mutation, Penetrance, Genetic Predisposition to Disease
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