ArticleBreast cancer research : BCR2022
A genome-wide association study of mammographic texture variation.
Article in Breast cancer research : BCR, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Interactions between genetic and epidemiological factors influencing mammographic density.American journal of epidemiology · 2026Article
- Association between Participant Characteristics and Breast Parenchymal Texture Variation among Postmenopausal Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Investigating the relationship between breast cancer risk factors and an AI-generated mammographic texture feature in the Nurses' Health Study II.NPJ breast cancer · 2025Article
- Genome-wide association study of Asian women identifies putative mammographic density-associated loci.Breast cancer research : BCR · 2025Article
- Actionable Genes and Carcinogenic Pathways for Gastric Cancer in Latinos.Cancer medicine · 2025Article
- The shared genetic landscape of polycystic ovary syndrome and breast cancer: convergence on ER + breast cancer but not ER- breast cancer.Breast cancer research : BCR · 2024Article
- Mammographic density mediates the protective effect of early-life body size on breast cancer risk.Nature communications · 2024Article
- The mediating role of mammographic density in the protective effect of early-life adiposity on breast cancer risk: a multivariable Mendelian randomization study.medRxiv : the preprint server for health sciences · 2023Article
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Authors and funding
11 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundBreast parenchymal texture features, including grayscale variation (V), capture the patterns of texture variation on a mammogram and are associated with breast cancer risk, independent of mammographic density (MD). However, our knowledge on the genetic basis of these texture features is limited.
methodsWe conducted a genome-wide association study of V in 7040 European-ancestry women. V assessments were generated from digitized film mammograms. We used linear regression to test the single-nucleotide polymorphism (SNP)-phenotype associations adjusting for age, body mass index (BMI), MD phenotypes, and the top four genetic principal components. We further calculated genetic correlations and performed SNP-set tests of V with MD, breast cancer risk, and other breast cancer risk factors.
resultsWe identified three genome-wide significant loci associated with V: rs138141444 (6q24.1) in ECT2L, rs79670367 (8q24.22) in LINC01591, and rs113174754 (12q22) near PGAM1P5. 6q24.1 and 8q24.22 have not previously been associated with MD phenotypes or breast cancer risk, while 12q22 is a known locus for both MD and breast cancer risk. Among known MD and breast cancer risk SNPs, we identified four variants that were associated with V at the Bonferroni-corrected thresholds accounting for the number of SNPs tested: rs335189 (5q23.2) in PRDM6, rs13256025 (8p21.2) in EBF2, rs11836164 (12p12.1) near SSPN, and rs17817449 (16q12.2) in FTO. We observed significant genetic correlations between V and mammographic dense area (r
conclusionsThese findings provide new insights into the genetic basis of mammographic texture variation and their associations with MD, breast cancer risk, and other breast cancer risk factors.
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