ArticleHuman molecular genetics2010
Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
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Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 78 citations in OpenAlex.
- Quantitative assessment of common genetic variants on chromosome 5p12 and hormone receptor status with breast cancer risk.PloS one · 2013Pooled it
- Association between 5p12 genomic markers and breast cancer susceptibility: evidence from 19 case-control studies.PloS one · 2013Pooled it
- Effects ofPharmacogenomics · 2019Trial
- A Bayesian Model for Paired Data in Genome-Wide Association Studies with Application to Breast Cancer.Entropy (Basel, Switzerland) · 2025Article
- Polymorphisms in cancer-related genes and their association with breast cancer risk in Iranian women.Molecular biology reports · 2025Article
- Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.Hereditary cancer in clinical practice · 2025Review
- Functional characterization of FBXL7 as a novel player in human cancers.Cell death discovery · 2022Review
- Genome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka.BMC research notes · 2022Article
- Determining the Prognostic Value of Spliceosome-Related Genes in Hepatocellular Carcinoma Patients.Frontiers in molecular biosciences · 2022Article
- Multigene assessment of genetic risk for women for two or more breast cancers.Breast cancer research and treatment · 2021Article
- Variation in cancer risk among families with genetic susceptibility.Genetic epidemiology · 2021Article
- Genetic Influences in Breast Cancer Drug Resistance.Breast cancer (Dove Medical Press) · 2021Review
- Identification of novel common breast cancer risk variants at the 6q25 locus among Latinas.Breast cancer research : BCR · 2019Article
- Article
- Characterization of Nine Cancer-Associated Variants in Human DNA Polymerase κ.Chemical research in toxicology · 2018Article
- F-box proteins involved in cancer-associated drug resistance.Oncology letters · 2018Review
- Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018Review
- Aurora kinase A regulates Survivin stability through targeting FBXL7 in gastric cancer drug resistance and prognosis.Oncogenesis · 2017Article
- Deregulation of F-box proteins and its consequence on cancer development, progression and metastasis.Seminars in cancer biology · 2016Review
- Genomic Biomarkers for Breast Cancer Risk.Advances in experimental medicine and biology · 2016Review
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Authors and funding
48 authors at 20 institutions in 10 countries.
Funding
Abstract
Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additional risk modifiers for BRCA1 and BRCA2 may be identified from promising signals discovered in breast cancer GWAS. A total of 350 SNPs identified as candidate breast cancer risk factors (P < 1 x 10(-3)) in two breast cancer GWAS studies were genotyped in 3451 BRCA1 and 2006 BRCA2 mutation carriers from nine centers. Associations with breast cancer risk were assessed using Cox models weighted for penetrance. Eight SNPs in BRCA1 carriers and 12 SNPs in BRCA2 carriers, representing an enrichment over the number expected, were significantly associated with breast cancer risk (P(trend) < 0.01). The minor alleles of rs6138178 in SNRPB and rs6602595 in CAMK1D displayed the strongest associations in BRCA1 carriers (HR = 0.78, 95% CI: 0.69-0.90, P(trend) = 3.6 x 10(-4) and HR = 1.25, 95% CI: 1.10-1.41, P(trend) = 4.2 x 10(-4)), whereas rs9393597 in LOC134997 and rs12652447 in FBXL7 showed the strongest associations in BRCA2 carriers (HR = 1.55, 95% CI: 1.25-1.92, P(trend) = 6 x 10(-5) and HR = 1.37, 95% CI: 1.16-1.62, P(trend) = 1.7 x 10(-4)). The magnitude and direction of the associations were consistent with the original GWAS. In subsequent risk assessment studies, the loci appeared to interact multiplicatively for breast cancer risk in BRCA1 and BRCA2 carriers. Promising candidate SNPs from GWAS were identified as modifiers of breast cancer risk in BRCA1 and BRCA2 carriers. Upon further validation, these SNPs together with other genetic and environmental factors may improve breast cancer risk assessment in these populations.
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