The DOI matches its Crossref record; 155 of the 155 references it cites were found in a registry or an index.
Genetic susceptibility to breast cancer
Open accessAbstract
Genetic and lifestyle/environmental factors are implicated in the aetiology of breast cancer. This review summarizes the current state of knowledge on rare high penetrance mutations, as well as moderate and low‐penetrance genetic variants implicated in breast cancer aetiology. We summarize recent discoveries from large collaborative efforts to combine data from candidate gene studies, and to conduct genome‐wide association studies (GWAS), primarily in breast cancers in the general population. These findings are compared with results from collaborative efforts aiming to identify genetic modifiers in BRCA1 and BRCA2 carriers. Breast cancer is a heterogeneous disease, and tumours from BRCA1 and BRCA2 carriers display distinct pathological characteristics when compared with tumours unselected for family history. The relationship between genetic variants and pathological subtypes of breast cancer, and the implication of discoveries of novel genetic variants to risk prediction in BRCA1/2 mutation carriers and in populations unselected for mutation carrier status, are discussed.
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Cites
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Self-citationGenetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families
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Cited by
Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
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Self-citationGenome-wide association studies identify four ER negative–specific breast cancer risk loci
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Self-citationEpidemiology of Breast Cancer in Women
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Metadata
- Authors
- Mavaddat, N., Antoniou, A. C., Easton, D. F., & Garcia-Closas, M.
- Venue
- Molecular Oncology
- Publisher
- Wiley
- Published
- 2010-05-21
- Volume
- 4
- Issue
- 3
- Pages
- 174-191
- ISSN
- 1574-7891 (ISSN-L)
- 1878-0261
- OpenAlex
- W2083697259
- Cited by
- 375
- References
- 155
- FWCI
- 16.93
- Type
- journal article
- Language
- en
- Open access
- bronze
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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