Gregory S. Downs
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View article: Supplementary Table S4 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Supplementary Table S4 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Supplementary Table S4shows SNPs and weights used in the alternative PRS.
View article: Supplementary Table S3 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Supplementary Table S3 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Supplementary Table S3 shows SNPs and weights for the BCAC PRS313.
View article: Supplementary Table S1 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Supplementary Table S1 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Supplementary Table S1 shows studies and samples used in these analyses
View article: Correction: Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Correction: Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
View article: Supplementary Table S2 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Supplementary Table S2 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Supplementary Table S2 show the country in which the studies were conducted
View article: Supplementary Table S1 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Supplementary Table S1 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Supplementary Table S1 shows studies and samples used in these analyses
View article: Data from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Data from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Background:The multifactorial risk prediction model BOADICEA enables identification of women at higher or lower risk of developing breast cancer. BOADICEA models genetic susceptibility in terms of the effects of rare variants in breast can…
View article: Table 1 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Table 1 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Summary parameters for alternative PRSs.a
View article: Figure 1 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Figure 1 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Graph of BOADICEA parameter alpha (αRL) versus log-OR per 1 SD. Graph of BOADICEA parameter alpha (αRL) versus log-OR per 1 SD for PRS313 and alternative PRS. αRL were estimated using t…
View article: Supplementary Methods from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Supplementary Methods from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Supplementary Methods provides details of methodology
View article: Supplementary Table S3 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Supplementary Table S3 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Supplementary Table S3 shows SNPs and weights for the BCAC PRS313.
View article: Supplementary Table S4 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Supplementary Table S4 from Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Supplementary Table S4shows SNPs and weights used in the alternative PRS.
View article: Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC
Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC Open
Our study identifies novel germline alterations, including a CNV, and provides additional evidence that germline factors could be important contributing factors to the development of SCLC.
View article: Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia
Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia Open
Background: Gene rearrangements affecting KMT2A are frequent in acute myeloid leukemia (AML) and are often associated with a poor prognosis. KMT2A gene fusions are often detected by chromosome banding analysis and confirmed by fluorescence…
View article: Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia
Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia Open
Background. Gene rearrangements affecting KMT2A are frequent in acute myeloid leukemia (AML) and are often associated with a poor prognosis. KMT2A gene fusions are often detected by chromosome banding analysis and confirmed by fluorescence…
View article: Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication
Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication Open
Aims Genomic sequencing of lymphomas is under-represented in routine clinical testing despite having prognostic and predictive value. Clinical implementation is challenging due to a lack of consensus on reportable targets and a paucity of …
View article: P078: Identification of novel germline mutations and copy-number variations in patients with small cell lung cancer
P078: Identification of novel germline mutations and copy-number variations in patients with small cell lung cancer Open
Small cell lung cancer (SCLC) is a highly aggressive cancer primarily associated with tobacco smoking. Recent findings have identified germline alterations that challenged the assumption that solely tobacco exposure causes SCLC. Currently,…
View article: Clinical reporting for personalized cancer genomics requires extensive access to subscription-only literature
Clinical reporting for personalized cancer genomics requires extensive access to subscription-only literature Open
Objective: Medical care for cancer is increasingly directed by genomic laboratory testing for alterations in the tumor genome that are significant for diagnosis, prognosis and therapy. Uniquely in medicine, providers must search the biomed…
View article: Clinical outcome and biomarker assessments of a multi-centre phase II trial assessing niraparib with or without dostarlimab in recurrent endometrial carcinoma
Clinical outcome and biomarker assessments of a multi-centre phase II trial assessing niraparib with or without dostarlimab in recurrent endometrial carcinoma Open
View article: Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model Open
Background: The multifactorial risk prediction model BOADICEA enables identification of women at higher or lower risk of developing breast cancer. BOADICEA models genetic susceptibility in terms of the effects of rare variants in breast ca…
View article: Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model
Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model Open
Background The multifactorial risk prediction model BOADICEA enables identification of women at higher or lower risk of developing breast cancer. BOADICEA models genetic susceptibility in terms of the effects of rare variants in breast can…
View article: VHL mosaicism: the added value of multi-tissue analysis
VHL mosaicism: the added value of multi-tissue analysis Open
Von Hippel-Lindau disease (VHL) is an autosomal dominant, inherited syndrome with variants in the VHL gene causing predisposition to multi-organ benign and malignant neoplasms. A germline VHL variant is identified in 95–100% of individuals…