ArticleBMC cancer2015
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.
Article in BMC cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The trial behind it
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Impact on breast cancer susceptibility and clinicopathological traits of common genetic polymorphisms inOncology letters · 2022Article
- TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8.HGG advances · 2022Article
- The effect of VAV3 polymorphisms on thyroid cancer.Endocrine · 2022Article
- Comparison ofJournal of clinical medicine · 2020Article
- BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts.Scientific reports · 2018Article
- Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2018Article
- Fibroblast Growth Factor Receptor 2 Signaling in Breast Cancer.International journal of biological sciences · 2017Review
- The precision relationships between eight GWAS-identified genetic variants and breast cancer in a Chinese population.Oncotarget · 2016Article
- Vav1: A Dr. Jekyll and Mr. Hyde protein--good for the hematopoietic system, bad for cancer.Oncotarget · 2015Review
Corrections and comments
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Authors and funding
30 authors at 12 institutions in 3 countries.
Funding
Abstract
backgroundDespite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles.
methodsWe performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs.
resultsOverall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p < 0(-6) level. Twenty of these regions contained defined genes, including one already associated with breast cancer risk: TOX3. With a lower threshold for preliminary significance to p < 10(-5), we identified 11 additional SNPs in FGFR2, a well-established breast cancer-associated gene. Ten candidate SNPs were selected, excluding those already associated with breast cancer, for technical validation as well as replication in 1668 samples from the same population. Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16 x 10(-5)), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts.
conclusionsThis study indicated the role of TOX3 and FGFR2 as breast cancer susceptibility genes in BRCA1/2-wild-type breast cancer patients from Sardinian population.
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