scholarly journals Performance of TyrerCuzick Model for Breast Cancer Risk Assessment among Pakistan’s Females

2021 ◽  
pp. 73-79
Author(s):  
Rufina Soomro ◽  
Rabia Niaz
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
High Risk ◽  
Mammographic Density ◽  
Breast Cancer Incidence ◽  
Menopausal Status ◽  
Low Risk ◽  
Moderate Risk ◽  
Breast Cancer Risk Assessment ◽  
High Mammographic Density

Background: Breast cancer incidence is highest in Pakistan among Asian countries. The known risk factors are family history, hormonal exposure, benign proliferative diseases, and high mammographic density which are included in the TyrerCuzick model. The model needs validation studies to implement in prediction, screening, and prevention strategies among different populations. This study aims to validate the TyrerCuzick model for Pakistan's females. Methods and Materials: A total of 317 biopsy-proven breast cancer patients from the breast surgery clinic at Liaquat National Hospital were included. The 10 years risk score is calculated by applying the TyrerCuzick model software. Subcategories of low risk <2%, moderate risk 2-7%, and high risk >8% were identified. Further risk group stratification is done to find the association with individual factors i.e., age group, menopausal status, family history, and mammographic density. Results: The mean TyrerCuzick score was low to moderate i.e. 2.23±1.66. The score was distributed as low risk 174(54.9%), moderate risk 137(43.2%), and high risk 6(1.9%). Low risk was observed among 116(81.7%) of less than 50 years old, 105(78.9%) premenopausal, 113(59.8%) with no family history, and 120 patients (59.7%) with low mammographic density. Most of the moderate risk was found in 113(64.6%) of more than 50 years old, 109(60.2%) with postmenopausal, 24(61.5%) with family history, 58(50%) with high mammographic density respectively. Conclusion: The TyrerCuzick model can predict risk for developing breast cancer among Pakistan’s femalesclose to accurate among older age, postmenopausal, family history of breast cancer, and high mammographic density.

Estimation of additional MRI resources needed in British Columbia for screening high-risk women for breast cancer.

2012 ◽  
Vol 30 (27_suppl) ◽  
pp. 51-51
Author(s):  
Rasika Rajapakshe ◽  
Christabelle Bitgood ◽  
Steven McAvoy ◽  
Cynthia Araujo ◽  
Paula Gordon ◽  
...  
Keyword(s):  
Breast Cancer ◽  
British Columbia ◽  
Family History ◽  
High Risk ◽  
Screening Mammography ◽  
Low Risk ◽  
Moderate Risk ◽  
High Risk Women ◽  
Risk Distribution ◽  
Victoria General Hospital

51 Background: Screening women at high risk with MRI has been shown to detect breast cancer at an early stage. Therefore, MRI screening has been recommended in the UK and USA for women who are at a high risk of developing breast cancer. However, there is no information available in the province of British Columbia (BC) about the number of women who have a high risk of developing breast cancer. Therefore, we carried out a study to estimate the breast cancer risk distribution in three sample populations in BC using Tyrer-Cuzick (TC) risk prediction model so that additional resource requirement for MRI breast screening can be calculated. Methods: A survey questionnaire was designed based on the TC model, which includes family history, hormonal factors, and benign breast disease. Additional questions also include factors that are used in other models (Gail, Claus, and BCRAPRO) as well as factors that may be included in the future. Women were recruited by staff and volunteers at three screening mammography clinics: Kelowna, Victoria General Hospital, and BC Women’s Health Centre in Vancouver. The survey was available to women to complete on the web, by phone, or on paper. An online database was constructed to store and query the data. The 10-year risk of developing breast cancer for each woman was calculated using the Tyrer-Cuzick IBIS Risk Evaluator software and the risk distribution of the survey population was analyzed. Results: Data from 3,200 women recruited from three sites, gives a risk distribution showing 2.6% are at high risk of developing breast cancer, 31.2% are at moderate risk, and 66.2% are at low risk. Based on NICE guidelines (UK), high risk is defined as having a 10-year risk of greater than 8%, moderate risk as 3-8%, and low risk as less than 3%. Extrapolating this to the approximately 500,000 women who are eligible to attend for screening mammography in BC, 13,000 women are considered at high risk. Conclusions: Our results indicate that 2.6% of women ages 40-79 attending screening mammography in BC may have a very high risk of developing breast cancer based on personal and family history. Based on a 14-hour work day, three additional MRI scanners would be required to implement MRI screening for these high-risk women in BC.

scholarly journals Risk category system to identify pituitary adenoma patients with AIP mutations

2018 ◽  
Vol 55 (4) ◽  
pp. 254-260 ◽  
Author(s):  
Francisca Caimari ◽  
Laura Cristina Hernández-Ramírez ◽  
Mary N Dang ◽  
Plamena Gabrovska ◽  
Donato Iacovazzo ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Family History ◽  
High Risk ◽  
Pituitary Adenomas ◽  
Univariate Analysis ◽  
Low Risk ◽  
Individual Risk ◽  
Risk Category ◽  
Moderate Risk ◽  
Category System

BackgroundPredictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system for aryl hydrocarbon receptor-interacting protein (AIP) mutations in patients with pituitary adenomas.MethodsAn international cohort of 2227 subjects were consecutively recruited between 2007 and 2016, including patients with pituitary adenomas (familial and sporadic) and their relatives. All probands (n=1429) were screened for AIP mutations, and those diagnosed with a pituitary adenoma prospectively, as part of their clinical screening (n=24), were excluded from the analysis. Univariate analysis was performed comparing patients with and without AIP mutations. Based on a multivariate logistic regression model, six potential factors were identified for the development of a risk category system, classifying the individual risk into low-risk, moderate-risk and high-risk categories. An internal cross-validation test was used to validate the system.Results1405 patients had a pituitary tumour, of which 43% had a positive family history, 55.5% had somatotrophinomas and 81.5% presented with macroadenoma. Overall, 134 patients had an AIP mutation (9.5%). We identified four independent predictors for the presence of an AIP mutation: age of onset providing an odds ratio (OR) of 14.34 for age 0-18 years, family history (OR 10.85), growth hormone excess (OR 9.74) and large tumour size (OR 4.49). In our cohort, 71% of patients were identified as low risk (<5% risk of AIP mutation), 9.2% as moderate risk and 20% as high risk (≥20% risk). Excellent discrimination (c-statistic=0.87) and internal validation were achieved.ConclusionWe propose a user-friendly risk categorisation system that can reliably group patients into high-risk, moderate-risk and low-risk groups for the presence of AIP mutations, thus providing guidance in identifying patients at high risk of carrying an AIP mutation. This risk score is based on a cohort with high prevalence of AIP mutations and should be applied cautiously in other populations.

scholarly journals Risk-Adapted Postmastectomy Radiotherapy Decision Based on Prognostic Nomogram for pT1-2N1M0 Breast Cancer: A Multicenter Study

2020 ◽  
Vol 10 ◽  
Author(s):  
Ming Li ◽  
Jinbo Yue ◽  
Xiangbo Wan ◽  
Bin Hua ◽  
Qiuan Yang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Locoregional Recurrence ◽  
Risk Group ◽  
High Risk Group ◽  
Low Risk ◽  
Moderate Risk ◽  
Primary Tumor Site ◽  
Free Survival ◽  
Significant Difference

PurposeThe aim of this study was to develop a widely accepted prognostic nomogram and establish a risk-adapted PMRT strategy based on locoregional recurrence for pT1-2N1M0 breast cancer.Methods and MaterialsA total of 3,033 patients with pT1-2N1M0 breast cancer treated at 6 participating institutions between 2000 and 2016 were retrospectively reviewed. A nomogram was developed to predicted locoregional recurrence-free survival (LRFS). A propensity score-matched (PSM) analyses was performed in risk-adapted model.ResultsWith the median follow-up of 65.0 months, the 5-year overall survival (OS), disease free survival (DFS) and LRFS were 93.0, 84.8, and 93.6%, respectively. There was no significant difference between patients who received PMRT or not for the entire group. A nomogram was developed and validated to estimate the probability of 5-year LRFS based on five independent factors including age, primary tumor site, positive lymph nodes number, pathological T stage, and molecular subtype that were selected by a multivariate analysis of patients who did not receive PMRT in the primary cohort. According to the total nomogram risk scores, the entire patients were classified into low- (40.0%), moderate- (42.4%), and high-risk group (17.6%). The 5-year outcomes were significantly different among these three groups (P&lt;0.001). In low-risk group, patients who received PMRT or not both achieved a favorable OS, DFS, and LRFS. In moderate-risk group, no differences in OS, DFS, and LRFS were observed between PMRT and no PMRT patients. In high-risk group, compared with no PMRT, PMRT resulted in significantly different OS (86.8 vs 83.9%, P = 0.050), DFS (77.2 vs 70.9%, P = 0.049), and LRFS (90.8 vs. 81.6%, P = 0.003). After PSM adjustment, there were no significant differences in OS, DFS, and LRFS in low-risk and moderate-risk groups. However, in the high-risk group, PMRT still resulted in significantly better OS, DFS and improved LRFS.ConclusionsThe proposed nomogram provides an individualized risk estimate of LRFS in patients with pT1-2N1M0 breast cancer. Risk-adapted PMRT for high-risk patients is a viable effective strategy.

scholarly journals Assessment of breast cancer risk among Iraqi women in 2019

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hashim Talib Hashim ◽  
Mustafa Ahmed Ramadhan ◽  
Kabas Monther Theban ◽  
John Bchara ◽  
Ahed El-Abed-El-Rassoul ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Low Risk ◽  
Lifetime Risk ◽  
Gail Model ◽  
Breast Cancer Risk Assessment ◽  
Iraqi Women ◽  
The Mean

Abstract Background Breast cancer is one of the most common cancers among women worldwide and the leading cause of death among Iraqi women. Breast cancer cases in Iraq were found to have increased from 26.6/100,000 in 2000 to 31.5/100,000 in 2009. The present study aims to assess the established risk factors of breast cancer among Iraqi women and to highlight strategies that can aid in reducing the incidence. Methods 1093 Iraqi females were enrolled in this cross-sectional study by purposive sampling methods. Data collection occurred from July 2019 to September 2019. 1500 women participated in the study, and 407 women were ultimately excluded. The questionnaire was conducted as a self-administrated form in an online survey. Ethical approval was obtained from the College of Medicine in the University of Baghdad. The Gail Model risk was calculated for each woman by the Breast Cancer Risk Assessment Tool (BCRAT), an interactive model developed by Mitchell Gail that was designed to estimate a woman’s absolute risk of developing breast cancer in the upcoming five years of her life and in her lifetime. Results The ages of the participants ranged from 35 to 84 years old. The mean 5–year risk of breast cancer was found to be 1.3, with 75.3% of women at low risk and 24.7% of women at high risk. The mean lifetime risk of breast cancer was found to be 13.4, with 64.7% of women at low risk, 30.3% at moderate risk, and 5.0% at high risk. The results show that geographically Baghdad presented the highest 5-year risk, followed by Dhi Qar, Maysan, and Nineveh. However, the highest lifetime risk was found in Najaf, followed by Dhi Qar, Baghdad, and Nineveh, successively. Conclusion Breast cancer is a wide-spreading problem in the world and particularly in Iraq, with Gail Model estimations of high risk in several governorates. Prevention programs need to be implemented and awareness campaigns organized in order to highlight the importance of early detection and treatment.

Mammographic Density: Intersection of Science, the Law, and Clinical Practice

2013 ◽  
pp. e63-e69
Author(s):  
Scott Hollenbeck ◽  
Patricia Keely ◽  
Victoria Seewaldt
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Mammographic Density ◽  
Menopausal Status ◽  
Increased Risk ◽  
Reduction Strategies ◽  
High Mammographic Density ◽  
Risk Reduction Strategies

High mammographic density is associated with a two- to sixfold increased risk of breast cancer. Mammographic density can be altered by endogenous and exogenous hormonal factors and generally declines with age. Mammographic density is affected by confounding factors such as age, parity, menopausal status, and body mass index (BMI), thus making interpretation of mammographic density challenging. None of the established means of measuring mammographic density are entirely satisfactory because they are time consuming and/or subjective. Although mammographic density has been shown to predict breast cancer risk, the role of mammographic density in precisely assessing a woman's breast cancer risk over her lifetime and evaluating response to risk-reduction strategies cannot be fully realized until we have a better understanding of the biology that links mammographic density to breast cancer risk.

scholarly journals Attitudes towards risk-stratified breast cancer screening among women in England: A cross-sectional survey

2019 ◽  
Vol 27 (3) ◽  
pp. 138-145 ◽  
Author(s):  
Alex Ghanouni ◽  
Saskia C Sanderson ◽  
Nora Pashayan ◽  
Cristina Renzi ◽  
Christian von Wagner ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Assessment ◽  
High Risk ◽  
Breast Cancer Risk ◽  
Breast Screening ◽  
Low Risk ◽  
Cancer Risk Assessment ◽  
Risk Status ◽  
Breast Cancer Risk Assessment ◽  
Very High

Objectives Risk stratification may improve the benefit/harm ratio of breast screening. Research on acceptability among potential invitees is necessary to guide implementation. We assessed women’s attitudes towards and willingness to undergo risk assessment and stratified screening. Methods Women in England aged 40–70 received summary information about the topic, and completed face-to-face computer-assisted interviews. Questions assessed willingness to undergo multifactorial breast cancer risk assessment, more frequent breast screening (if at very high risk), or less frequent or no screening (if at very low risk), and preferences for delivery of assessment results. Results Among 933 women, 85% considered breast cancer risk assessment a good idea, and 74% were willing to have it. Among 125 women unwilling to have risk assessment, reasons commonly related to ‘worry’ (14%) and ‘preferring not to know’ (14%). Among those willing to have risk assessment ( n = 689), letters/emails were generally preferred (42%) for results about very low-risk status. Face-to-face communication was most commonly preferred for results of very high-risk status (78%). General practitioners were most commonly preferred sources of assessment results (≈40%). Breast cancer specialists were often preferred for results of very high-risk status (38%). Risk-stratified breast screening was considered a good idea by 70% and 89% were willing to have more frequent screening. Fewer would accept less (51%) or no screening (37%) if at very low risk. Conclusions Women were generally in favour of multifactorial breast cancer risk assessment and risk-stratified screening. Some were unwilling to accept less or no screening if at very low risk.

scholarly journals Proposal for the use of echocardiography in bloodstream infections due to different streptococcal species

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sandra Chamat-Hedemand ◽  
Niels Eske Bruun ◽  
Lauge Østergaard ◽  
Magnus Arpi ◽  
Emil Fosbøl ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
High Risk ◽  
Blood Culture ◽  
Positive Blood Culture ◽  
Bloodstream Infections ◽  
Low Risk ◽  
Moderate Risk ◽  
Streptococcal Species ◽  
Very High

Abstract Background Infective endocarditis (IE) is diagnosed in 7–8% of streptococcal bloodstream infections (BSIs), yet it is unclear when to perform transthoracic (TTE) and transoesophageal echocardiography (TOE) according to different streptococcal species. The aim of this sub-study was to propose a flowchart for the use of echocardiography in streptococcal BSIs. Methods In a population-based setup, we investigated all patients admitted with streptococcal BSIs and crosslinked data with nationwide registries to identify comorbidities and concomitant hospitalization with IE. Streptococcal species were divided in four groups based on the crude risk of being diagnosed with IE (low-risk < 3%, moderate-risk 3–10%, high-risk 10–30% and very high-risk > 30%). Based on number of positive blood culture (BC) bottles and IE risk factors (prosthetic valve, previous IE, native valve disease, and cardiac device), we further stratified cases according to probability of concomitant IE diagnosis to create a flowchart suggesting TTE plus TOE (IE > 10%), TTE (IE 3–10%), or “wait & see” (IE < 3%). Results We included 6393 cases with streptococcal BSIs (mean age 68.1 years [SD 16.2], 52.8% men). BSIs with low-risk streptococci (S. pneumoniae, S. pyogenes, S. intermedius) are not initially recommended echocardiography, unless they have ≥3 positive BC bottles and an IE risk factor. Moderate-risk streptococci (S. agalactiae, S. anginosus, S. constellatus, S. dysgalactiae, S. salivarius, S. thermophilus) are guided to “wait & see” strategy if they neither have a risk factor nor ≥3 positive BC bottles, while a TTE is recommended if they have either ≥3 positive BC bottles or a risk factor. Further, a TTE and TOE are recommended if they present with both. High-risk streptococci (S. mitis/oralis, S. parasanguinis, G. adiacens) are directed to a TTE if they neither have a risk factor nor ≥3 positive BC bottles, but to TTE and TOE if they have either ≥3 positive BC bottles or a risk factor. Very high-risk streptococci (S. gordonii, S. gallolyticus, S. mutans, S. sanguinis) are guided directly to TTE and TOE due to a high baseline IE prevalence. Conclusion In addition to the clinical picture, this flowchart based on streptococcal species, number of positive blood culture bottles, and risk factors, can help guide the use of echocardiography in streptococcal bloodstream infections. Since echocardiography results are not available the findings should be confirmed prospectively with the use of systematic echocardiography.

scholarly journals Infiltration and sealing for managing non-cavitated proximal lesions: a systematic review and meta-analysis

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yuanyuan Chen ◽  
Dongru Chen ◽  
Huancai Lin
Keyword(s):  
Systematic Review ◽  
High Risk ◽  
Meta Analysis ◽  
Low Risk ◽  
Caries Risk ◽  
Moderate Risk ◽  
Risk Levels ◽  
Non Invasive ◽  
Randomised Controlled ◽  
Caries Lesions

Abstract Background Infiltration and sealing are micro-invasive treatments for arresting proximal non-cavitated caries lesions; however, their efficacies under different conditions remain unknown. This systematic review and meta-analysis aimed to evaluate the caries-arresting effectiveness of infiltration and sealing and to further analyse their efficacies across different dentition types and caries risk levels. Methods Six electronic databases were searched for published literature, and references were manually searched. Split-mouth randomised controlled trials (RCTs) to compare the effectiveness between infiltration/sealing and non-invasive treatments in proximal lesions were included. The primary outcome was obtained from radiographical readings. Results In total, 1033 citations were identified, and 17 RCTs (22 articles) were included. Infiltration and sealing reduced the odds of lesion progression (infiltration vs. non-invasive: OR = 0.21, 95% CI 0.15–0.30; sealing vs. placebo: OR = 0.27, 95% CI 0.18–0.42). For both the primary and permanent dentitions, infiltration and sealing were more effective than non-invasive treatments (primary dentition: OR = 0.30, 95% CI 0.20–0.45; permanent dentition: OR = 0.20, 95% CI 0.14–0.28). The overall effects of infiltration and sealing were significantly different from the control effects based on different caries risk levels (OR = 0.20, 95% CI 0.14–0.28). Except for caries risk at moderate levels (moderate risk: OR = 0.32, 95% CI 0.01–8.27), there were significant differences between micro-invasive and non-invasive treatments (low risk: OR = 0.24, 95% CI 0.08–0.72; low to moderate risk: OR = 0.38, 95% CI 0.18–0.81; moderate to high risk: OR = 0.17, 95% CI 0.10–0.29; and high risk: OR = 0.14, 95% CI 0.07–0.28). Except for caries risk at moderate levels (moderate risk: OR = 0.32, 95% CI 0.01–8.27), infiltration was superior (low risk: OR = 0.24, 95% CI 0.08–0.72; low to moderate risk: OR = 0.38, 95% CI 0.18–0.81; moderate to high risk: OR = 0.20, 95% CI 0.10–0.39; and high risk: OR = 0.14, 95% CI 0.05–0.37). Conclusion Infiltration and sealing were more efficacious than non-invasive treatments for halting non-cavitated proximal lesions.

Global tissue stiffness on breast MR elastography: High-risk dense breast patients have higher stiffness compared to average-risk dense breast patients.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10541-10541
Author(s):  
Bhavika K. Patel ◽  
Kay Pepin ◽  
Kathy R Brandt ◽  
Gina L. Mazza ◽  
Barbara A. Pockaj ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Risk ◽  
Menopausal Status ◽  
Risk Groups ◽  
Average Risk ◽  
Tissue Stiffness ◽  
Tissue Properties ◽  
Dense Breasts ◽  
Risk Patients

10541 Background: Biomechanical tissue properties may vary in the breasts of patients at elevated risk for breast cancer. We aim to quantify in vivo biomechanical tissue properties in various breast densities and in both normal risk and high risk women using Magnetic Resonance Imaging (MRI)/MRE and examine the association of biomechanical properties of the breast with cancer risk. Methods: In this IRB–approved prospective single-institution study, we recruited two groups of women differing by breast cancer risk to undergo a 3.0 T dynamic contrast enhanced MRI/MRE of the breast. Low-average risk women were defined as having no personal or significant family history of breast cancer, no prior high risk breast biopsies and a negative mammography within 12 months. High-risk breast cancer patients were recruited from those patients who underwent standard of care breast MR. Within each breast density group (non-dense versus dense), two-sample t-tests were used to compare breast stiffness, elasticity, and viscosity across risk groups (low-average vs high). Results: There were 50 low-average risk and 86 high-risk patients recruited to the study. The risk groups were similar on age (mean age = 55.6 and 53.6 years), density (68% vs. 64% dense breasts) and menopausal status (66.0% vs. 69.8%). Among patients with dense breasts, mean stiffness, elasticity, and viscosity were significantly higher in high risk patients ( N = 55) compared to low-average risk patients ( N = 34; all p < 0.001). In the multivariate logistic regression model, breast stiffness remained a significant predictor of risk status (OR=4.26, 95% CI [1.96, 9.25]) even after controlling for breast density, MRI BPE, age, and menopausal status. Similar results were seen for breast elasticity (OR=4.88, 95% CI [2.08, 11.43]) and viscosity (OR=11.49, 95% CI [1.15, 114.89]). Conclusions: Structurally-based, quantitative biomarker of tissue stiffness obtained from global 3D breast MRE is associated with differences in breast cancer risk in dense breasts. As such, tissue stiffness could provide a novel prognostic marker to help identify the subset of high-risk women with dense breasts who would benefit from increased surveillance.[Table: see text]

scholarly journals Polygenic risk, susceptibility genes, and breast cancer over the life course

2020 ◽  
Author(s):  
Nina Mars ◽  
Elisabeth Widén ◽  
Sini Kerminen ◽  
Tuomo Meretoja ◽  
Matti Pirinen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Clinical Decision Making ◽  
Breast Cancer Mortality ◽  
Breast Cancer Incidence ◽  
Positive Family History ◽  
Risk Scores ◽  
Limited Information ◽  
Polygenic Risk ◽  
Fold Enrichment

ABSTRACTPolygenic risk scores (PRS) for breast cancer have potential to improve risk prediction, but there is limited information on their clinical applicability. We set out to study how PRS could help in clinical decision making. Among 99,969 women in the FinnGen study with 6,879 breast cancer cases, the PRS was associated not only with breast cancer incidence but also with a range of breast cancer-related endpoints. Women with a breast cancer PRS above the 90th percentile had both higher breast cancer mortality (HR 2.40, 95%CI 1.82-3.17) and higher risk for non-localized disease at diagnosis (HR 2.94, 95%CI 2.63-3.28), compared to those with PRS <80th percentile. The PRS modified the breast cancer risk of two high-impact frameshift risk variants. Women with the c.1592delT variant in PALB2 (242-fold enrichment in Finland, 263 carriers) and an average PRS (20-80th percentile) had a lifetime risk of breast cancer at 58% (95%CI 50-66%), which increased to 85% (70-100%) with a high PRS (>90th percentile), and decreased to 27% (15-39%) with a low PRS (<20th percentile). Similarly, for c.1100delC in CHEK2 (3.7-fold enrichment; 1,543 carriers), the respective lifetime risks were 27% (95%CI 25-30%), 59% (52-67%), and 18% (13-22%). Among breast cancer cases, a PRS >90th percentile was associated with risk of contralateral breast cancer with HR 1.66 (95%CI 1.24-2.22). Finally, the PRS significantly refined the risk assessment of women with first-degree relatives diagnosed with breast cancer, i.e. the combination of high PRS (>90th percentile) and a positive family-history was associated with a 2.33-fold elevated risk (95%CI 1.57-3.46) compared to a positive family history alone. These findings demonstrate opportunities for a comprehensive way of assessing genetic risk in the general population, in breast cancer patients, and in unaffected family members.

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