Thomas P. Slavin
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View article: Supplementary Figure from Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional <i>TP53</i> Status
Supplementary Figure from Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional <i>TP53</i> Status Open
Supplementary Figure from Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status
View article: Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing Open
View article: Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors
Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors Open
PurposeWe previously described a combined risk score (CRS) that integrates a multiple-ancestry polygenic risk score (MA-PRS) with the Tyrer-Cuzick (TC) model to assess breast cancer (BC) risk. Here, we present a longitudinal validation of …
View article: Identifying homologous recombination deficiency in breast cancer: genomic instability score distributions differ among breast cancer subtypes
Identifying homologous recombination deficiency in breast cancer: genomic instability score distributions differ among breast cancer subtypes Open
Purpose A 3-biomarker homologous recombination deficiency (HRD) score is a key component of a currently FDA-approved companion diagnostic assay to identify HRD in patients with ovarian cancer using a threshold score of ≥ 42, though recent …
View article: Supplementary Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
Supplementary Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer Open
Supplementary Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
View article: Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer Open
Purpose:The EndoPredict prognostic assay is validated to predict distant recurrence and response to chemotherapy primarily in post-menopausal women with estrogen receptor–positive (ER+), HER2− breast cancer. This stud…
View article: Supplementary Figure from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
Supplementary Figure from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer Open
Supplementary Figure from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
View article: Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers Open
Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li–Fraumeni syndrome (LFS). Here, we identified a rare TP53 tetramerization domain missense mutation, c.1000G>C;p.G334R, in a family with multiple late-…
View article: Supplementary Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
Supplementary Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer Open
Supplementary Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
View article: Supplementary Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
Supplementary Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers Open
Supplementary Tables S1-S6
View article: Supplementary Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
Supplementary Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers Open
Supplementary Tables S1-S6
View article: Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers Open
Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li–Fraumeni syndrome (LFS). Here, we identified a rare TP53 tetramerization domain missense mutation, c.1000G>C;p.G334R, in a family with multiple late-…
View article: Supplementary Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
Supplementary Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers Open
Supplementary Figures 1-4. Supplementary Figure S1: Full Pedigrees from TP53 c.1000G>C;p.G334R clinically ascertained families. Fam ID allows reference to Table 1; Supplementary Figure S2: Constructs encoding p53 wild-type (TP53-WT), p53-R…
View article: Supplementary Figure from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
Supplementary Figure from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer Open
Supplementary Figure from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
View article: Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
Data from Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer Open
Purpose:The EndoPredict prognostic assay is validated to predict distant recurrence and response to chemotherapy primarily in post-menopausal women with estrogen receptor–positive (ER+), HER2− breast cancer. This stud…
View article: Supplementary Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
Supplementary Data from A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers Open
Supplementary Figures 1-4. Supplementary Figure S1: Full Pedigrees from TP53 c.1000G>C;p.G334R clinically ascertained families. Fam ID allows reference to Table 1; Supplementary Figure S2: Constructs encoding p53 wild-type (TP53-WT), p53-R…
View article: Association of Genomic Instability Score, Tumor Mutational Burden, and Tumor-Infiltrating Lymphocytes as Biomarkers in Uterine Serous Carcinoma
Association of Genomic Instability Score, Tumor Mutational Burden, and Tumor-Infiltrating Lymphocytes as Biomarkers in Uterine Serous Carcinoma Open
Background: Uterine serous carcinomas represent 10% of uterine carcinomas but account for nearly 40% of deaths from the disease. Improved molecular characterization of these tumors is instrumental in guiding targeted treatment and improvin…
View article: P063: Prospective longitudinal validation of a breast cancer risk prediction model in a cohort of 130,058 individuals*
P063: Prospective longitudinal validation of a breast cancer risk prediction model in a cohort of 130,058 individuals* Open
View article: EP101/#503 Relevance of genomic instability score, tumor mutational burden, and tumor infiltrating lymphocytes as biomarkers in uterine serous carcinoma
EP101/#503 Relevance of genomic instability score, tumor mutational burden, and tumor infiltrating lymphocytes as biomarkers in uterine serous carcinoma Open
Objectives Uterine serous carcinomas (USC) represent 10% of endometrial carcinomas but nearly 40% of deaths. We characterized genomic instability (GIS), tumor mutational burden (TMB), and density of tumor infiltrating lymphocytes (TILs) in…
View article: Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition
Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition Open
PURPOSE Polygenic risk scores (PRSs) for breast cancer (BC) risk stratification have been developed primarily in women of European ancestry. Their application to women of non-European ancestry has lagged because of the lack of a formal app…
View article: Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer
Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer Open
Purpose: The EndoPredict prognostic assay is validated to predict distant recurrence and response to chemotherapy primarily in post-menopausal women with estrogen receptor–positive (ER+), HER2− breast cancer. This study evaluated the perfo…
View article: Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional <i>TP53</i> Status
Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional <i>TP53</i> Status Open
Background: Though germline TP53 pathogenic/likely pathogenic variants (PV) are associated with Li–Fraumeni syndrome, many detected by multigene panels represent aberrant clonal expansion (ACE), most due to clonal hematopoiesis (CH). Disce…
View article: Comprehensive Breast Cancer Risk Assessment for <i>CHEK2</i> and <i>ATM</i> Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model
Comprehensive Breast Cancer Risk Assessment for <i>CHEK2</i> and <i>ATM</i> Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model Open
PURPOSE Breast cancer risks for CHEK2 and ATM pathogenic variant (PV) carriers are modified by an 86-single nucleotide polymorphism polygenic risk score (PRS) and individual clinical factors. Here, we describe comprehensive risk prediction…
View article: Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients
Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients Open
Background Germline TP53 mutations are associated with Li-Fraumeni syndrome, a severe and rare hereditary cancer syndrome. Despite the rarity of germline TP53 mutations, the clinical implication for mutation carriers and their families is …
View article: A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers Open
Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li–Fraumeni syndrome (LFS). Here, we identified a rare TP53 tetramerization domain missense mutation, c.1000G>C;p.G334R, in a family with multiple late-onset LFS-s…
View article: Abnormal body composition is a predictor of adverse outcomes after autologous haematopoietic cell transplantation
Abnormal body composition is a predictor of adverse outcomes after autologous haematopoietic cell transplantation Open
Background The number of patients undergoing autologous haematopoietic cell transplant (HCT) is growing, but little is known about the factors that predict adverse outcomes. Low muscle mass and obesity are associated with disability and pr…
View article: Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”
Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots” Open
In BRCA1 and BRCA2 coldspots, missense variants are very unlikely to be pathogenic. Classification schemes that incorporate coldspots can reduce the number of VUS and mitigate risks from reporting benign variation as VUS.
View article: Circulating tumor DNA as an early cancer detection tool
Circulating tumor DNA as an early cancer detection tool Open
View article: Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis
Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis Open
View article: Novel candidates in early-onset familial colorectal cancer
Novel candidates in early-onset familial colorectal cancer Open