Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer

scientific article published on 01 March 2019

Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.3390/JPM9010015
P932PMC publication ID6462925
P698PubMed publication ID30832243

P50authorAmanda Ewart TolandQ38300105
P2093author name stringPaul R Andreassen
Ava Willoughby
P2860cites workDominant Negative ATM Mutations in Breast Cancer FamiliesQ22066027
Ovarian Cancer and BRCA1/2 Testing: Opportunities to Improve Clinical Care and Disease PreventionQ26744525
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskQ27008356
Breast Cancer Screening for Women at Average Risk: 2015 Guideline Update From the American Cancer SocietyQ27347760
The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control studyQ27644636
Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriersQ28067154
Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteinsQ28085364
Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathwayQ28141324
Exposing the MYtH about base excision repair and human inherited diseaseQ28201309
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammographyQ28295438
ClinVar: public archive of interpretations of clinically relevant variantsQ28603051
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasmsQ29618586
Breast Cancer Screening in the Precision Medicine Era: Risk-Based Screening in a Population-Based Trial.Q30238753
Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic reviewQ30245191
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family RegistryQ45062920
Comparison of recommendations for screening mammography using CISNET modelsQ46212925
Associations Between Cancer Predisposition Testing Panel Genes and Breast CancerQ46782579
Cancer statistics, 2018.Q47191906
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participantsQ47277580
Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based OutreachQ47397232
Assessing Breast Cancer Risk Estimates Based on the Gail Model and Its Predictors in Qatari WomenQ47733514
DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessmentQ47864272
Population-based screening for BRCA1 and BRCA2: 2014 Lasker AwardQ48065999
"The race" to clone BRCA1.Q48081790
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.Q48361014
Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.Q48526678
Women who are recalled for further investigation for breast screening: psychological consequences 3 years after recall and factors affecting re-attendance.Q48645952
Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials.Q48717652
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.Q50210067
A role for common genomic variants in the assessment of familial breast cancerQ85312916
Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?Q90335038
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank ParticipantsQ91057564
Regulation and modulation of PTEN activityQ91142779
Screening Mammography for Average-Risk Women: The Controversy and NCCN's PositionQ93159862
Functional evaluation and cancer risk assessment of BRCA2 unclassified variantsQ95814860
A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.Q51192784
A breast cancer prediction model incorporating familial and personal risk factors.Q52000310
Ten-year risk of false positive screening mammograms and clinical breast examinations.Q52245438
Familial communication and cascade testing among relatives of BRCA population screening participants.Q52622723
Population Frequency of Germline BRCA1/2 Mutations.Q53731191
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation StatementQ54092157
Evaluation of three polygenic risk score models for the prediction of breast cancer risk in Singapore Chinese.Q55040393
Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish womenQ56900447
A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein FunctionQ57023947
Validation of a genetic risk score for Arkansas women of colorQ57040851
Impact of Advancing Technology on Diagnosis and Treatment of Breast CancerQ57108989
Microcalcifications in breast cancer: From pathophysiology to diagnosis and prognosisQ57113729
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%Q57250766
Risk of breast cancer in male BRCA2 carriersQ57266624
Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical SignificanceQ57306006
Addition of a polygenic risk score, mammographic density, and endogenous hormones to existing breast cancer risk prediction models: A nested case-control studyQ57748350
Screening breast magnetic resonance imaging in women with hormone replacement therapyQ57807961
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutationsQ57910661
A genetic risk predictor for breast cancer using a combination of low-penetrance polymorphisms in a Japanese populationQ57918178
Population Based Testing for Primary Prevention: A Systematic ReviewQ58609596
Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel TestingQ58797082
Accurate classification of BRCA1 variants with saturation genome editingQ59068795
BRCA in breast cancer: ESMO Clinical Practice GuidelinesQ59274104
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer SubtypesQ62583133
Projecting individualized probabilities of developing breast cancer for white females who are being examined annuallyQ69396132
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2Q71614580
Autosomal dominant inheritance of early-onset breast cancer. Implications for risk predictionQ72752023
Mammography use, breast cancer stage at diagnosis, and survival among older womenQ73090590
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panelQ85247141
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortiumQ38793676
MRI screening-detected breast lesions in high-risk young women: the value of targeted second-look ultrasound and imaging-guided biopsyQ38809247
A polygenic risk score for breast cancer risk in a Taiwanese population.Q38958555
BI-RADS® fifth edition: A summary of changesQ38993876
National Performance Benchmarks for Modern Screening Digital Mammography: Update from the Breast Cancer Surveillance ConsortiumQ39029462
Breast Tomosynthesis: Practical ConsiderationsQ39244006
RAS Proteins and Their Regulators in Human DiseaseQ39407402
Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United StatesQ39734134
Breast cancer screening using tomosynthesis in combination with digital mammographyQ40209954
Breast cancer risk prediction using a clinical risk model and polygenic risk scoreQ40605693
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.Q40633720
Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers.Q40722655
The WISDOM Study: breaking the deadlock in the breast cancer screening debateQ41701590
Mammography use helps to explain differences in breast cancer stage at diagnosis between older black and white womenQ43738081
A high-throughput functional complementation assay for classification of BRCA1 missense variantsQ44400315
US panel rejects routine use of BRCA cancer screening in womenQ44632452
Mammography before diagnosis among women age 80 years and older with breast cancerQ45038556
Cumulative risk of breast cancer to age 70 years according to risk factor status: data from the Nurses' Health Study.Q30620197
Development and evaluation of a decision aid on mammography screening for women 75 years and olderQ33596111
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation CarriersQ33614244
Common genetic variants and modification of penetrance of BRCA2-associated breast cancerQ33742096
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer riskQ33784408
Breast cancer risk assessment using genetic variants and risk factors in a Singapore Chinese populationQ33892384
Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese womenQ33965090
Recent BRCAPRO upgrades significantly improve calibrationQ33992404
Performance of common genetic variants in breast-cancer risk modelsQ34064069
Radiation Doses and Cancer Risks from Breast Imaging StudiesQ34132972
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortalityQ34135443
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombinationQ34146943
Breast-cancer risk in families with mutations in PALB2Q34148873
Assessment of clinical validity of a breast cancer risk model combining genetic and clinical informationQ34267477
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.Q34314370
Power and predictive accuracy of polygenic risk scores.Q34337027
Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2Q34384153
p53 in signaling checkpoint arrest or apoptosisQ34395659
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyQ34465792
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resourceQ34480599
Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation StatementQ34508652
Increased patient concern after false-positive mammograms: clinician documentation and subsequent ambulatory visitsQ34743674
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test resultsQ34788325
Breast cancer detection among young survivors of pediatric Hodgkin lymphoma with screening magnetic resonance imagingQ34819549
Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trialQ34994568
Radiation exposure from imaging tests: is there an increased cancer risk?Q35008997
Cumulative probability of false-positive recall or biopsy recommendation after 10 years of screening mammography: a cohort studyQ35532803
Rare variants in the ATM gene and risk of breast cancerQ35608690
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genesQ35618857
In vivo radioadaptive response: a review of studies relevant to radiation-induced cancer risk.Q35642728
Genetics of breast cancer: a topic in evolutionQ35775223
Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative womenQ35846927
The contributions of breast density and common genetic variation to breast cancer riskQ36137764
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.Q36190966
SNPs and breast cancer risk prediction for African American and Hispanic womenQ36322904
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk ScoresQ36356727
Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese womenQ36393157
Breast cancer risk-assessment modelsQ36458723
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genesQ36492194
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activityQ36511037
Prediction of breast cancer risk based on profiling with common genetic variantsQ36583004
Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family RegistryQ36619329
The BOADICEA model of genetic susceptibility to breast and ovarian cancerQ36695832
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian CancersQ37002955
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2Q37092814
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significanceQ37117082
Using clinical factors and mammographic breast density to estimate breast cancer risk: development and validation of a new predictive modelQ37172219
Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor statusQ37223335
The cell-cell adhesion molecule E-cadherin.Q37251750
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer riskQ37261138
Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutationsQ37363083
Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFabQ37410693
Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestryQ37487782
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealingQ37531346
The role of MRI in breast cancer screeningQ37636599
Systematic review: comparative effectiveness of core-needle and open surgical biopsy to diagnose breast lesionsQ37653428
Functional assays for analysis of variants of uncertain significance in BRCA2.Q37715826
Discovering moderate-risk breast cancer susceptibility genesQ37719902
A short history of the genome-wide association study: where we were and where we are goingQ38076409
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendationQ38173683
Mechanisms of ATM ActivationQ38314959
Effect of mammographic screening from age 40 years on breast cancer mortality in the UK Age trial at 17 years' follow-up: a randomised controlled trialQ38413461
Population genetic testing for cancer susceptibility: founder mutations to genomesQ38611712
Effectiveness of Breast Cancer Screening: Systematic Review and Meta-analysis to Update the 2009 U.S. Preventive Services Task Force RecommendationQ38693248
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation CarriersQ38717239
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectRisk StratificationQ57630821
P304page(s)15
P577publication date2019-03-01
P1433published inJournal of personalized medicineQ27724740
P1476titleGenetic Testing to Guide Risk-Stratified Screens for Breast Cancer
P478volume9

Reverse relations

Q89578180Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Programcites workP2860

Search more.