ArticlePloS one2013
Genome-wide association study of breast cancer in the Japanese population.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Association of three SNPs in TOX3 and breast cancer risk: Evidence from 97275 cases and 128686 controls.Scientific reports · 2015Pooled it
- Does Direct-to-Consumer Personal Genetic Testing Improve Gynecological Cancer Screening Uptake among Never-Screened Attendees? A Randomized Controlled Study.International journal of environmental research and public health · 2021Trial
- Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.Human molecular genetics · 2016Trial
- Polygenic risk scores for prediction of breast cancer in Korean women.International journal of epidemiology · 2023Article
- A Personal Breast Cancer Risk Stratification Model Using Common Variants and Environmental Risk Factors in Japanese Females.Cancers · 2021Article
- The association of CASC16 variants with breast Cancer risk in a northwest Chinese female population.Molecular medicine (Cambridge, Mass.) · 2020Article
- AnJournal of genetics · 2019Article
- Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population.Scientific reports · 2019Article
- Association between mitochondrial genetic variation and breast cancer risk: The Multiethnic Cohort.PloS one · 2019Article
- Effects of FGFR gene polymorphisms on response and toxicity of cyclophosphamide-epirubicin-docetaxel-based chemotherapy in breast cancer patients.BMC cancer · 2018Article
- No association of TP53 codon 72 and intron 3 16-bp duplication polymorphisms with breast cancer risk in Chinese Han women: new evidence from a population-based case-control investigation.European journal of medical research · 2018Article
- Subtype-specific associations between breast cancer risk polymorphisms and the survival of early-stage breast cancer.Journal of translational medicine · 2018Article
- Genome-Wide Association Studies of Cancer in Diverse Populations.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018Review
- A genome-wide association study in the Japanese population identifies the 12q24 locus for habitual coffee consumption: The J-MICC Study.Scientific reports · 2018Article
- Article
- Systematic identification of regulatory variants associated with cancer risk.Genome biology · 2017Article
- Genetic and environmental factors and serum hormones, and risk of estrogen receptor-positive breast cancer in pre- and postmenopausal Japanese women.Oncotarget · 2017Article
- Previous GWAS hits in relation to young-onset breast cancer.Breast cancer research and treatment · 2017Article
- The precision relationships between eight GWAS-identified genetic variants and breast cancer in a Chinese population.Oncotarget · 2016Article
- Breast cancer risk prediction using a clinical risk model and polygenic risk score.Breast cancer research and treatment · 2016Article
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer is the most common malignancy among women in worldwide including Japan. Several studies have identified common genetic variants to be associated with the risk of breast cancer. Due to the complex linkage disequilibrium structure and various environmental exposures in different populations, it is essential to identify variants associated with breast cancer in each population, which subsequently facilitate the better understanding of mammary carcinogenesis. In this study, we conducted a genome-wide association study (GWAS) as well as whole-genome imputation with 2,642 cases and 2,099 unaffected female controls. We further examined 13 suggestive loci (P<1.0 × 10(-5)) using an independent sample set of 2,885 cases and 3,395 controls and successfully validated two previously-reported loci, rs2981578 (combined P-value of 1.31 × 10(-12), OR = 1.23; 95% CI = 1.16-.30) on chromosome 10q26 (FGFR2), rs3803662 (combined P-value of 2.79 × 10(-11), OR = 1.21; 95% CI = 1.15-.28) and rs12922061 (combined P-value of 3.97 × 10(-10), OR = 1.23; 95% CI = 1.15-.31) on chromosome 16q12 (TOX3-LOC643714). Weighted genetic risk score on the basis of three significantly associated variants and two previously reported breast cancer associated loci in East Asian population revealed that individuals who carry the most risk alleles in category 5 have 2.2 times higher risk of developing breast cancer in the Japanese population than those who carry the least risk alleles in reference category 1. Although we could not identify additional loci associated with breast cancer, our study utilized one of the largest sample sizes reported to date, and provided genetic status that represent the Japanese population. Further local and international collaborative study is essential to identify additional genetic variants that could lead to a better, accurate prediction for breast cancer.
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