Abstract P2-10-05: A breast cancer multi-racial/ethnic polygenic risk score for improved personalized breast cancer screening

2020 ◽  
Author(s):  
Sarah Theiner ◽  
Donglei Hu ◽  
Scott Huntsman ◽  
Yiwey Shieh ◽  
Laura Fejerman ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Screening ◽  
Breast Cancer Screening ◽  
Risk Score ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
Racial Ethnic

scholarly journals Precision Breast Cancer Screening with a Polygenic Risk Score

2020 ◽  
Author(s):  
Tonis Tasa ◽  
Mikk Puustusmaa ◽  
Neeme Tonisson ◽  
Berit Kolk ◽  
Peeter Padrik
Keyword(s):  
Breast Cancer ◽  
Cancer Screening ◽  
Secondary Prevention ◽  
Breast Cancer Screening ◽  
Risk Score ◽  
Polygenic Risk Score ◽  
Genome Wide Association Studies ◽  
Primary And Secondary Prevention ◽  
Polygenic Risk ◽  
Incident Cases

Breast cancer (BC) is the leading cause of cancer deaths in women in the world. Genome-wide association studies have identified numerous genetic variants (SNPs) independently associated with BC. The effects of such SNPs can be combined into a single polygenic risk score (PRS). Stratification of women according to PRS could be introduced to primary and secondary prevention. Our aim was to revalidate a PRS model and to develop a pipeline for individualizing breast cancer screening. Previously published PRS models for predicting the risk of breast cancer were collected from the literature. Models were validated on the Estonian Biobank (EGC) dataset consisting of 32,548 quality-controlled genotypes with 315 prevalent and 365 incident BC cases and on 249,062 samples in the UK Biobank dataset consisting of 8637 prevalent and 6825 incident cases. The best performing model was selected based on the AUC in prevalent data and independently validated in both incident datasets. Using Estonian BC background information, we performed absolute risk simulations and developed individual risk-based recommendations for prevention. The best-performing PRS included 2803 SNPs. The C-index of the Cox regression model associating BC status with PRS was 0.656 (SE = 0.05) with a hazard ratio of 1.66 (95% confidence interval 1.5 - 1.84) on the incident EGC dataset. The PRS is able to stratify individuals with more than a 3-fold risk increase. The observed 10-year risks of individuals in the 99th percentile exceeded the 1st percentile more than 10-fold. PRS is a powerful predictor of breast cancer risk. Currently, PRS scores are not implemented in routine BC screening. We have developed PRS-based recommendations for personalized primary and secondary prevention and our approach is easily adaptable to other nationalities by using population-specific background data of other genetically similar populations.

scholarly journals Breast cancer screening behaviors and attitudes in three racial/ethnic groups

Cancer ◽  
1992 ◽  
Vol 69 (1) ◽  
pp. 165-174 ◽  
Author(s):  
Sally W. Vernon ◽  
Victor G. Vogel ◽  
Susan Halabi ◽  
Gilchrist L. Jackson ◽  
Ray O. Lundy ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Screening ◽  
Ethnic Groups ◽  
Breast Cancer Screening ◽  
Screening Behaviors ◽  
Racial Ethnic

scholarly journals Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes

2020 ◽  
Vol 3 (7) ◽  
pp. e208501 ◽  
Author(s):  
Shannon Gallagher ◽  
Elisha Hughes ◽  
Susanne Wagner ◽  
Placede Tshiaba ◽  
Eric Rosenthal ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Score ◽  
Polygenic Risk Score ◽  
Cancer Genes ◽  
Moderate Risk ◽  
Polygenic Risk ◽  
Risk Breast Cancer ◽  
Breast Cancer Genes

scholarly journals Polygenic risk score for the prediction of breast cancer is related to lesser terminal duct lobular unit involution of the breast

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Clara Bodelon ◽  
Hannah Oh ◽  
Andriy Derkach ◽  
Joshua N. Sampson ◽  
Brian L. Sprague ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Risk Score ◽  
Polygenic Risk Score ◽  
Intermediate Step ◽  
Breast Cancers ◽  
Tissue Samples ◽  
Polygenic Risk ◽  
Age Related

Abstract Terminal duct lobular units (TDLUs) are the predominant anatomical structures where breast cancers originate. Having lesser degrees of age-related TDLU involution, measured as higher TDLUs counts or more epithelial TDLU substructures (acini), is related to increased breast cancer risk among women with benign breast disease (BBD). We evaluated whether a recently developed polygenic risk score (PRS) based on 313-common variants for breast cancer prediction is related to TDLU involution in the background, normal breast tissue, as this could provide mechanistic clues on the genetic predisposition to breast cancer. Among 1398 women without breast cancer, higher values of the PRS were significantly associated with higher TDLU counts (P = 0.004), but not with acini counts (P = 0.808), in histologically normal tissue samples from donors and diagnostic BBD biopsies. Mediation analysis indicated that TDLU counts may explain a modest proportion (≤10%) of the association of the 313-variant PRS with breast cancer risk. These findings suggest that TDLU involution might be an intermediate step in the association between common genetic variation and breast cancer risk.

Polygenic risk score for breast cancer in high-risk women.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. 1508-1508 ◽  
Author(s):  
Mary Helen Black ◽  
Shuwei Li ◽  
Holly LaDuca ◽  
Jefferey Chen ◽  
Robert Hoiness ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Risk Score ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
High Risk Women
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