Verma Shefali Setia, Guare Lindsay, Ehsan Sarah, Gastounioti Aimilia, Scales Gabrielle, Ritchie Marylyn D, Kontos Despina, McCarthy Anne Marie
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Washington University School of Medicine in St. Louis, St. Louis, MO 63130, USA.
Cancers (Basel). 2023 May 16;15(10):2776. doi: 10.3390/cancers15102776.
Breast density, the amount of fibroglandular versus fatty tissue in the breast, is a strong breast cancer risk factor. Understanding genetic factors associated with breast density may help in clarifying mechanisms by which breast density increases cancer risk. To date, 50 genetic loci have been associated with breast density, however, these studies were performed among predominantly European ancestry populations. We utilized a cohort of women aged 40-85 years who underwent screening mammography and had genetic information available from the Penn Medicine BioBank to conduct a Genome-Wide Association Study (GWAS) of breast density among 1323 women of African ancestry. For each mammogram, the publicly available "LIBRA" software was used to quantify dense area and area percent density. We identified 34 significant loci associated with dense area and area percent density, with the strongest signals in , , , , and . There was significant overlap between previously identified breast cancer SNPs and SNPs identified as associated with breast density. Our results highlight the importance of breast density GWAS among diverse populations, including African ancestry populations. They may provide novel insights into genetic factors associated with breast density and help in elucidating mechanisms by which density increases breast cancer risk.
乳腺密度，即乳腺中纤维腺体组织与脂肪组织的比例，是一个很强的乳腺癌风险因素。了解与乳腺密度相关的遗传因素可能有助于阐明乳腺密度增加癌症风险的机制。迄今为止，已有50个基因位点与乳腺密度相关，然而，这些研究主要是在欧洲血统人群中进行的。我们利用了一组年龄在40 - 85岁之间、接受过乳腺钼靶筛查且可从宾夕法尼亚大学医学银行获得基因信息的女性，对1323名非洲血统女性进行了乳腺密度的全基因组关联研究（GWAS）。对于每一张乳腺钼靶片，使用公开可用的“LIBRA”软件来量化致密区域和面积密度百分比。我们确定了34个与致密区域和面积密度百分比相关的显著基因位点，在……中信号最强。先前确定的乳腺癌单核苷酸多态性（SNP）与被确定为与乳腺密度相关的SNP之间存在显著重叠。我们的结果突出了在包括非洲血统人群在内的不同人群中进行乳腺密度GWAS的重要性。它们可能为与乳腺密度相关的遗传因素提供新的见解，并有助于阐明密度增加乳腺癌风险的机制。
