Carolyn Horton
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View article: A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing
A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing Open
Background: Germline genetic variants impacting splicing are a frequent cause of disease. The clinical interpretation of such variants is challenging for many reasons including the immense complexity of splicing mechanisms. While recent ad…
View article: SMARCA4 pathogenic variants: Gynecological cancer histories from a laboratory tested cohort
SMARCA4 pathogenic variants: Gynecological cancer histories from a laboratory tested cohort Open
Our data support the inclusion of SMARCA4 in genetic testing for hereditary early-onset ovarian cancer, enumerate the ages of SCCOHT diagnosis, and highlight the need for prospective penetrance studies to improve counseling and management …
View article: Hereditary diffuse gastric cancer spectrum associated with germline <i>CTNNA1</i> loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls
Hereditary diffuse gastric cancer spectrum associated with germline <i>CTNNA1</i> loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls Open
Background Diffuse gastric cancer (DGC) is the most common manifestation in germline CTNNA1 variant carriers, with one study estimating a 49–57% lifetime risk by age 80. Knowledge on CTNNA1 -associated hereditary diffuse gastric cancer (HD…
View article: Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer Open
These data provide quantitative measures for very rare missense and truncating variants in FH, which reflect the differing phenotypic specificity of HLRCC and renal cancer and may be applicable in clinical variant classification.
View article: Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
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View article: Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing Open
View article: Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
Tables S1-S8
View article: Low Allele Frequency Variants Identified on Germline Multi-Gene Panel Testing for Cancer Predisposition Can Suggest the Presence of Constitutional Mosaicism
Low Allele Frequency Variants Identified on Germline Multi-Gene Panel Testing for Cancer Predisposition Can Suggest the Presence of Constitutional Mosaicism Open
Purpose: Enabled by advancements in next-generation sequencing for hereditary cancer conditions, low allele frequency variants (LAFV) are detected by testing laboratories. This study describes the frequency and clinical factors associated …
View article: A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations Open
View article: Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline<i>FH</i>variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline<i>FH</i>variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer Open
Purpose Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH . This paper quantitatively weights the phenotypic context (PP4/PS4) of such ver…
View article: Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
Tables S1-S8
View article: Table 4 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Table 4 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
Characteristics of five individuals with early-onset colorectal cancer who identified as Asian and had a VUS detected in MSH2
View article: Table 2 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Table 2 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
Prevalence of VUSs in 14 colorectal cancer susceptibility genes identified among patients with early-onset colorectal cancer by race and ethnicity
View article: Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
Tables S1-S8
View article: Table 3 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Table 3 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
Characteristics of 10 individuals with early-onset colorectal cancer who identified as Black and had a VUS detected in PMS2
View article: Table 1 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Table 1 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
Summary of clinicodemographic features by VUS status among individuals with early-onset colorectal cancer
View article: Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
Tables S1-S8
View article: Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
The increasing burden of colorectal cancer among adults younger than age 50 years (early-onset colorectal cancer) and new National Comprehensive Cancer Network guidelines recommending universal genetic testing in early-onset colorectal can…
View article: Double <i>CHEK2</i> Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes
Double <i>CHEK2</i> Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes Open
Importance CHEK2 pathogenic and likely pathogenic variants (PVs) are common, and low-risk (LR) variants, p.I157T, p.S428F, and p.T476M, are even more common. Biallelic CHEK2 PVs are associated with specific cancer phenotypes, including ear…
View article: P290: RNA and reclassification: Assessing RNA data in rare disease
P290: RNA and reclassification: Assessing RNA data in rare disease Open
View article: Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer
Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer Open
The increasing burden of colorectal cancer among adults younger than age 50 years (early-onset colorectal cancer) and new National Comprehensive Cancer Network guidelines recommending universal genetic testing in early-onset colorectal can…
View article: Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect
Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect Open
View article: Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing
Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing Open
PURPOSE Patients with germline pathogenic variants (PVs) in APC develop tens (attenuated familial adenomatous polyposis [AFAP]) to innumerable (classic FAP) adenomatous polyps in their colon and are at significantly increased lifetime risk…
View article: P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel
P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel Open
Von Hippel-Lindau (VHL) disease is a hereditary tumor predisposition syndrome caused by variants in the VHL gene and has an incidence of ∼1/36,000. The Clinical Genome Resource (ClinGen) VHL Variant Curation Expert Panel (VCEP) recently sp…
View article: P644: Unlocking the code: When SpliceAI falls short in variant assessment
P644: Unlocking the code: When SpliceAI falls short in variant assessment Open
The clinical interpretation and classification of spliceogenic variants are challenging due to the immense complexity of splicing mechanisms. While advancements in splice prediction algorithms have improved the accuracy of in silico predic…
View article: P074: Characterization of complex hereditary cancer associated germline variants with long read sequencing
P074: Characterization of complex hereditary cancer associated germline variants with long read sequencing Open
Long read (LR) sequencing is emerging as a key technology to elucidate complex variants that are missed/not fully characterized by conventional short read sequencing approaches. Among these, structural variants and mobile elements are part…
View article: Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes
Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes Open
Individuals with ATM+CHEK2 or 2 CHEK2 PVs have a greater cancer burden than single gene controls. These findings can be used to counsel individuals with DPVs and their families and inform cancer screening recommendatio…
View article: Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing
Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing Open
Importance Personalized surveillance, prophylaxis, and cancer treatment options for individuals with hereditary cancer predisposition are informed by results of germline genetic testing. Improvements to genomic technology, such as the avai…
View article: Assigning credit where it’s due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect
Assigning credit where it’s due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect Open
Background A variant can be pathogenic or benign with relation to a human disease. Current classification categories from benign to pathogenic reflect a probabilistic summary of current understanding. A primary metric of clinical utility f…
View article: Pretest Video Education Versus Genetic Counseling for Patients With Prostate Cancer: ProGen, A Multisite Randomized Controlled Trial
Pretest Video Education Versus Genetic Counseling for Patients With Prostate Cancer: ProGen, A Multisite Randomized Controlled Trial Open
In this large, multisite RCT, pretest video education shows promise for men with prostate cancer.