ArticleHuman molecular genetics2012
Gene-gene interactions in breast cancer susceptibility.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.Genetic epidemiology · 2016Pooled it
- Review
- Clinicopathological features of Chinese ovarian cancer patients with double heterozygosity for cancer-predisposed genes.BMC cancer · 2025Article
- Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.Hereditary cancer in clinical practice · 2025Review
- Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.American journal of human genetics · 2024Article
- Article
- Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants.Breast cancer research and treatment · 2024Article
- Prevalence of BRCA1, BRCA2, and PALB2 genomic alterations among 924 Taiwanese breast cancer assays with tumor-only targeted sequencing: extended data analysis from the VGH-TAYLOR study.Breast cancer research : BCR · 2023Article
- Variation in cancer risk among families with genetic susceptibility.Genetic epidemiology · 2021Article
- Influence of Arg399Gln, Arg280His and Arg194Trp XRCC1 gene polymorphisms of Base Excision Repair pathway on the level of 8-oxo-guanine and risk of head and neck cancer in the Polish population.Cancer biomarkers : section A of Disease markers · 2021Article
- Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.International journal of cancer · 2019Article
- Germline Variation and Breast Cancer Incidence: A Gene-Based Association Study and Whole-Genome Prediction of Early-Onset Breast Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018Article
- Detection of Methylated Circulating DNA as Noninvasive Biomarkers for Breast Cancer Diagnosis.Journal of breast cancer · 2017Review
- Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Gene network inference by fusing data from diverse distributions.Bioinformatics (Oxford, England) · 2015Article
- Management of familial cancer: sequencing, surveillance and society.Nature reviews. Clinical oncology · 2014Review
- Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid.Human molecular genetics · 2014Article
- Review
- CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer.European journal of human genetics : EJHG · 2014Article
- New genetic variants improve personalized breast cancer diagnosis.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2014Article
Corrections and comments
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Authors and funding
39 authors.
Funding
Abstract
There have been few definitive examples of gene-gene interactions in humans. Through mutational analyses in 7325 individuals, we report four interactions (defined as departures from a multiplicative model) between mutations in the breast cancer susceptibility genes ATM and CHEK2 with BRCA1 and BRCA2 (case-only interaction between ATM and BRCA1/BRCA2 combined, P = 5.9 × 10(-4); ATM and BRCA1, P= 0.01; ATM and BRCA2, P= 0.02; CHEK2 and BRCA1/BRCA2 combined, P = 2.1 × 10(-4); CHEK2 and BRCA1, P= 0.01; CHEK2 and BRCA2, P= 0.01). The interactions are such that the resultant risk of breast cancer is lower than the multiplicative product of the constituent risks, and plausibly reflect the functional relationships of the encoded proteins in DNA repair. These findings have important implications for models of disease predisposition and clinical translation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.