Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
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DOI：
10.3390/cancers14061483
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发表时间：
2022-03-14
期刊：
影响因子：
5.2
通讯作者：
Hopper JL
中科院分区：
文献类型：
--
作者：
Nguyen TL;Li S;Dowty JG;Dite GS;Ye Z;Nguyen-Dumont T;Trinh HN;Evans CF;Tan M;Sung J;Jenkins MA;Giles GG;Southey MC;Hopper JL
积云、积云百分比、高积云、卷积云和积云白色是乳房X光检查风险评分(MRSS)，当根据不同亮度水平定义乳房X光检查致密区域时，这些分数可以预测女性患乳腺癌的风险。我们测量了593对单合子(MZ)和326对异卵(DZ)女性双胞胎及其1592对姐妹的MRS。我们估计了这些MRSS在亲属中的相关性(ρ)，女性之间的差异有多少是由于遗传因素(遗传性)，以及这些MRS在多大程度上解释了乳腺癌在家族中发生的原因。ρ估计范围分别为：MZ对为0.41-0.60，DZ对为0.16-0.26，姊妹对为0.19-0.29。遗传力估计在36%到69%之间。遗传因素解释了为什么双胞胎和姐妹的MRS相似的大部分原因，而这些遗传因素解释的乳腺癌风险是目前最佳遗传风险得分的四分之一到一半。Cumulus、Cumulus-Percent、Alto-Cumulus、Cirrocumulus和Cumulus-White是乳腺癌的乳房X光检查风险评分(MRSS)，根据不同级别的像素亮度定义的乳房X光检查密度，并根据年龄和体重指数进行调整。我们测量了593对单合子(MZ)和326对异卵(DZ)女性双胞胎及其1592对姐妹的数字化乳房X光照片中的MRS。我们用FISHER软件估计了亲属间的相关性(R)和遗传因素引起的变异比例(遗传力)，并预测了与每个MZ相关的家系风险比。ρ估计范围分别为：MZ对的0.41~0.60(标准差[SE]0.02)，DZ对的0.16~0.26(SE 0.05)，姐妹对(包括双胞胎和她的非双胞胎姐妹对)的0.19~0.29(SE 0.02)。在经典双胞胎模型下，遗传力估计为39%至69%，当考虑到MZ对特有的共同非遗传因素时，遗传力估计为36%至56%。FRR在1.08到1.17之间。这些MRSS基本上是家族性的，主要是由于遗传因素解释了目前最佳多基因风险评分所解释的乳腺癌家族聚集性的四分之一到一半。
Cumulus, Cumulus-percent, Altocumulus, Cirrocumulus, and Cumulus-white are mammogram risk scores (MRSs) that predict a woman’s risk of breast cancer based on mammographically dense areas when defined by different levels of brightness. We measured these MRS for 593 monozygotic (MZ) and 326 dizygotic (DZ) female twin pairs and 1592 of their sisters. We estimated how much these MRSs were correlated in relatives (ρ), how much of the differences between women were due to genetic factors (heritability), and how much these MRS explained why breast cancer runs in families. The ρ estimates ranged from: 0.41 to 0.60 for MZ pairs, 0.16 to 0.26 for DZ pairs, and 0.19 to 0.29 sister pairs, respectively. Heritability estimates were 36% to 69%. Genetic factors explain most of why twins and sisters are similar in their MRS, and these genetic factors explain one-quarter to one-half as much breast cancer risk as to the current best genetic risk score. Cumulus, Cumulus-percent, Altocumulus, Cirrocumulus, and Cumulus-white are mammogram risk scores (MRSs) for breast cancer based on mammographic density defined in effect by different levels of pixel brightness and adjusted for age and body mass index. We measured these MRS from digitized film mammograms for 593 monozygotic (MZ) and 326 dizygotic (DZ) female twin pairs and 1592 of their sisters. We estimated the correlations in relatives (r) and the proportion of variance due to genetic factors (heritability) using the software FISHER and predicted the familial risk ratio (FRR) associated with each MRS. The ρ estimates ranged from: 0.41 to 0.60 (standard error [SE] 0.02) for MZ pairs, 0.16 to 0.26 (SE 0.05) for DZ pairs, and 0.19 to 0.29 (SE 0.02) for sister pairs (including pairs of a twin and her non-twin sister), respectively. Heritability estimates were 39% to 69% under the classic twin model and 36% to 56% when allowing for shared non-genetic factors specific to MZ pairs. The FRRs were 1.08 to 1.17. These MRSs are substantially familial, due mostly to genetic factors that explain one-quarter to one-half as much of the familial aggregation of breast cancer that is explained by the current best polygenic risk score.
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影响因子：
5
作者：
HOPPER, JL;CARLIN, JB
通讯作者：
CARLIN, JB
影响因子：
5.8
作者：
Lange, Kenneth;Papp, Jeanette C.;Sobel, Eric M.
通讯作者：
Sobel, Eric M.
影响因子：
4.4
作者：
Schmidt, Daniel F.;Makalic, Enes;Hopper, John L.
通讯作者：
Hopper, John L.
影响因子：
1.9
作者：
HOPPER, JL;MATHEWS, JD
通讯作者：
MATHEWS, JD
影响因子：
4.5
作者：
Clayton DG
通讯作者：
Clayton DG