Scientific Presentations

Myriad Publications: Scientific Presentations

Poster presentations and other publications with Myriad authorship,

Click HERE to view peer-reviewed scientific journals.

2020

Nov 17, 2020

The Role of Allele-Specific RNA Analysis in Hereditary Cancer Variant Classification

Conference: NSGC 2020

Oct 26, 2020

Multigene assessment of genetic risk for multiple primary breast cancers.

Conference: ASHG 2020

2019

Dec 14, 2019

Polygenic Breast Cancer Risk Modification in Carriers of High and Intermediate Risk Gene Mutations

Conference: SABCS 2019

Dec 13, 2019

Cancer risks associated with pathogenic variants in the ataxia telangiectasia mutated (ATM) gene

Conference: SABCS 2019

Nov 05, 2019

Clinical utility of hereditary cancer panel testing: impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations

Conference: NSGC

Nov 05, 2019

RNA Research Program Continues to be a Valuable Tool in Variant Reclassification

Conference: NSGC 2019

Nov 03, 2019

Case of a synonymous variant in MLH1 with clinical significance

Conference: CGA-ICC 2019

Nov 03, 2019

A Novel Pathogenic Variant in APC Intron 14 Contributing to FAP

Conference: CGA-ICC 2019

Oct 17, 2019

Functional classification of selected exonic splicing variants occurring outside of 5’ and 3’ exon boundaries in cancer-predisposing genes

Conference: ASHG 2019

Oct 16, 2019

Common variants in PMS2CL that can present in PMS2 as pathogenic variants with extremely low frequencies

Conference: ASHG 2019

Jun 03, 2019

Hereditary Cancer Genetic Testing Among Patients with Pancreatic Cancer

Conference: ASCO 2019

Jun 03, 2019

Preventive Surgery after Multiplex Genetic Panel Testing (MGPT)

Conference: ASCO 2019

May 07, 2019

Cancer Phenotype of Biallelic CHEK2 Mutation Carriers

Conference: Basser Symposium 2019

May 07, 2019

A novel method for unbiased risk prediction and its application to the combined residual

Conference: Basser Symposium 2019

May 05, 2019

Pan-Cancer Panel Testing: Variation in Testing and Results by Ancestry

Conference: ACOG 2019

May 05, 2019

Opportunity for Cancer Prevention: 1 in 4 Unaffected Women Meet Hereditary Cancer Testing Criteria

Conference: ACOG 2019

Apr 03, 2019

Clinical Utility of Testing for PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D Management Changes and Patient Adherence to Provider Recommendations

Conference: ACMG 2019

2018

Dec 07, 2018

Genetic Testing Contributes Significantly to Improved Identification of Women Eligible for Increased Breast Cancer Screening Compared to Remaining Lifetime Risk Models Alone

Conference: SABCS 2018

Dec 07, 2018

Associations between Clinical Factors in v7.02 of the Tyrer-Cuzick Model and a SNP-Based European Ancestry Residual Risk Score

Conference: SABCS 2018

Dec 07, 2018

Development and Validation of a Polygenic Score to Predict Breast Cancer Risk in Unaffected Hispanic Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel

Conference: SABCS 2018

Dec 05, 2018

Defining the spectrum of germline variants among African American patients with triple negative breast cancer

Conference: SABCS 2018

Jun 02, 2018

Promoting Colorectal Cancer Screening after Multiplex Genetic Testing and Genetic Counseling

Conference: ASCO 2018

Jun 02, 2018

Promoting Breast Cancer Screening after Multiplex Genetic Testing and Genetic Counseling

Conference: ASCO 2018

May 10, 2018

Comparison of Cancer Risks in Truncating versus Missense Pathogenic CHEK2 Variants

Conference: Montreal 2018

May 09, 2018

Performance of current Hereditary Breast and Ovarian Cancer (HBOC) testing criteria for the detection of carriers of pathogenic variants in clinically significant breast cancer risk genes other than BRCA1/2

Conference: Montreal 2018

May 09, 2018

Families with a Known Mutation in a Cancer Predisposition Gene: Is Single Site Testing Always the Best Option for Relatives?

Conference: Montreal 2018

May 09, 2018

Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk

Conference: Montreal 2018

Apr 28, 2018

Hereditary Cancer Genetic Testing in Community-Based Obstetrics and Gynecology Settings

Conference: ACOG 2018

Apr 20, 2018

Development and Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel

Conference: CCGGC 2018

Apr 13, 2018

Mosaic Deletion of the APC Gene is Associated with an Increased Risk of Hematological Malignancy

Conference: ACMG 2018

Apr 12, 2018

Evaluation Of Data Quality In Public Databases Is Critical Before Its UseAs Evidence In Clinical Variant Classification

Conference: ACMG 2018

Apr 12, 2018

Variant Interpretation when Multiple Amino Acid Changes are Present at the Same Codon Position

Conference: ACMG 2018

Feb 09, 2018

Inherited Germline Mutations in Men with Prostate Cancer

Conference: ASCO-GU 2018

2017

Dec 06, 2017

Development and Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel

Conference: SABCS

Oct 20, 2017

Genetic Testing Outcomes in Patients with Abnormal Immunohistochemistry (IHC) Staining of the Mismatch-Repair (MMR) Proteins

Conference: CGA 2017

Oct 20, 2017

Spectrum of Pathogenic Variants in the Juvenile Polyposis Genes SMAD4 and BMPR1A Using a Multi-Gene Hereditary Cancer Panel

Conference: CGA 2017

Oct 19, 2017

The Prevalence of Mosaicism in Common Cancer Susceptibility Genes from 232,328 Individuals Undergoing Sequential Testing

Conference: ASHG 2017

Oct 18, 2017

Large Rearrangement Analysis in GREM1 and the Identification of Novel Deletions and Duplications

Conference: ASHG 2017

Sep 15, 2017

Performance of NCCN Guidelines in Identifying Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome: Results from a Large Cohort Study

Conference: NSGC 2017

Sep 15, 2017

Variant Reclassification in a Clinical Cohort: A Decade of Experience

Conference: NSGC 2017

Sep 15, 2017

Development and Validation of a Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi‐Gene Hereditary Cancer Panel

Conference: NSGC 2017

Jun 05, 2017

Safety of Multiplex Gene Testing for Inherited Cancer Risk in a Fully Accrued Prospective Trial

Conference: ASCO 2017

Jun 05, 2017

Yield of Multiplex Panel Testing Exceeds Expert Opinion and Validated Prediction Models

Conference: ASCO 2017

Jun 05, 2017

Performance of Mutation Risk Prediction Models in a Racially Diverse Multi-Gene Panel Testing Cohort

Conference: ASCO 2017

Jun 05, 2017

Development and Validation of a Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel

Conference: ASCO 2017

Jun 05, 2017

Quantifying Gender Ascertainment Bias in Hereditary Cancer Testing

Conference: ASCO 2017

Jun 05, 2017

Multi-Gene Hereditary Cancer Testing among Men with Breast Cancer

Conference: ASCO 2017

Mar 24, 2017

Case Report: Sub-Clinical Fanconi Anemia in Siblings with Biallelic BRIP1 Mutations

Conference: ACMG 2017

Mar 24, 2017

Apparent Gene Conversion Event Detected in CHEK2 using Next Generation Sequencing Analysis

Conference: ACMG 2017

Mar 24, 2017

Complexities in Hereditary Cancer Variant Classification: Three Case Examples

Conference: ACMG 2017

Mar 24, 2017

Prevalence and Characterization of Triplications in Genes Associated with Hereditary Cancers

Conference: ACMG 2017

Mar 23, 2017

A Significant Proportion of TP53 Pathogenic Variants Detected with a Hereditary Pan-Cancer NGS Panel Are Somatically Acquired

Conference: ACMG 2017

Mar 15, 2017

A description of women with the pathogenic variants in the ovarian cancer risk genes BRIP1, RAD51C, RAD51D identified through clinical testing with a hereditary cancer panel

Conference: SGO 2017

2016

Dec 08, 2016

Trends in Age of Breast Cancer Diagnosis for Women with Pathogenic Variants in Genes Associated with Increased Breast Cancer Risk

Conference: SABCS 2016

Dec 08, 2016

Genetic Testing for HBOC among Women with a Personal Diagnosis of Breast Cancer in Patients with Medicaid as Compared to Patients with Private Insurance

Conference: SABCS 2016

Oct 20, 2016

PMS2CL‐hybrid alleles containing PMS2 sequence and other PMS2CL‐derived large rearrangements: The importance of correct interpretation of dosage alteration analysis in PMS2

Conference: ASHG 2016

Oct 20, 2016

NGS Facilitates Identification of Retrotransposon Insertional Mutations in Hereditary Cancer Genes

Conference: ASHG 2016

Oct 19, 2016

Diagnostic Detection, Characterization & Classification of Partial Single Exon Large Rearrangements in Hereditary Cancer Genes

Conference: ASHG 2016

Oct 19, 2016

Characterization of TP53 Sequencing Variants Initially Detected in Peripheral Blood using NGS Analysis

Conference: ASHG 2016

Oct 03, 2016

Unsuspected Lynch Syndrome due to Pathogenic Variants in MSH6 and PMS2

Conference: CGA 2016

Oct 03, 2016

Prevalence of Monoallelic MUTYH Carrier Status in Patients of Varied Ancestries Ascertained for Clinical Hereditary Cancer Risk Testing

Conference: CGA 2016

Sep 30, 2016

Average Age of Diagnosis of Ovarian Cancer for Women with Pathogenic Variants in BRIP1, RAD51C and RAD51D

Conference: NSGC 2016

Sep 30, 2016

Ancestry-Based Cancer Risks Associated with APC I1307K

Conference: NSGC 2016

Sep 29, 2016

Identification of APC I1307K Among a Cohort of Patients Undergoing a Pan‐Cancer Gene Panel: Analysis of Ancestry‐Based Cancer History

Conference: CGA 2016

Sep 29, 2016

Favorable Psychosocial Outcomes in Higher or Moderate Risk Mutation Carriers Identified by Hereditary Cancer Panel Testing

Conference: NSGC 2016

Jun 07, 2016

Safety of Multiplex Gene Testing for Inherited Cancer Risk: Interim Analysis of a Clinical Trial

Conference: ASCO 2016

Jun 07, 2016

Prevalence of germline cancer susceptibility gene mutations in a clinic-based series of colorectal cancer patients

Conference: ASCO 2016

Jun 06, 2016

Yield of Multiplex Panel Testing Exceeds Expert Opinion and Validated Prediction Models

Conference: ASCO 2016

Jun 06, 2016

Ovarian Cancer Risk Associated with Mutations Detected by Multiple-Gene Germline Sequencing in 95,561 Women

Conference: ASCO 2016

Jun 06, 2016

Magnitude of Invasive Breast Cancer Risk Associated with Mutations Detected by Multiple-Gene Germline Sequencing in 95,561 Women

Conference: ASCO 2016

Jun 06, 2016

Detection of Somatic Variants in Peripheral Blood Lymphocytes Using a 25-Gene Hereditary Cancer Panel

Conference: ASCO 2016

Jun 04, 2016

Genetic heterogeneity and survival among pancreatic adenocarcinoma (PDAC) patients with positive family history

Conference: ASCO 2016

May 12, 2016

Outcomes of Chromosome Breakage Analysis as a Tool for BRCA2 Variant Reclassification

Conference: International Symposium on HBOC 2016

May 12, 2016

Genetic Testing of Individuals Diagnosed with Breast or Ovarian Cancer who Meet Testing Guidelines: Trends in Utah, 2008-2012

Conference: International Symposium on HBOC 2016

May 12, 2016

Structural Biology in Variant Classification

Conference: International Symposium on HBOC 2016

May 12, 2016

Enhancement of History Weighting Analysis to Accurately Classify Variants in High and Moderate Risk Cancer Panel Genes

Conference: International Symposium on HBOC 2016

May 11, 2016

Are Cancer Risks for the CHEK2 Founder Mutation c.1100del Applicable to Other Pathogenic Variants in CHEK2?

Conference: International Symposium on HBOC 2016

May 11, 2016

RNA Research Program To Aid In The Reclassification Of Genetic Variants That Alter Splicing

Conference: International Symposium on HBOC 2016

Apr 11, 2016

Prevalence of BRCA1/2-Negative Women Who Qualify for Adjunctive Breast MRI Screening

Conference: NCBC 2016

Mar 11, 2016

Reclassification of Uncertain Variants Identified in High and Moderate Cancer Risk Genes Using History Weighting Analysis

Conference: ACMG 2016

Mar 10, 2016

Detailed Review of Four Patients Affected with Cancer that were Previously Unaffected at the Time of Single Syndrome Testing and Subsequently had Pathogenic Variants Identified by a 25-Gene Panel

Conference: ACMG 2016

2015

Dec 11, 2015

Multiplex Identification of genetic etiologies among women with bilateral breast cancer using a 25-gene hereditary cancer panel

Conference: SABCS 2015

Dec 11, 2015

Characterization of Li-Fraumeni syndrome diagnosed using a 25-gene hereditary cancer panel

Conference: SABCS 2015

Dec 10, 2015

Interim Analysis of Multiplex Gene Panel Testing for Inherited Susceptibility to Breast Cancer

Conference: SABCS 2015

Dec 10, 2015

The Patient Experience in a Prospective Trial of Multiple-Gene Panel Testing for Cancer Risk

Conference: SABCS 2015

Dec 09, 2015

Predisposing Germline Mutations in an Unselected Academic Breast Cancer (BC) Cohort

Conference: SABCS 2015

Oct 23, 2015

Outcomes of multi-gene testing for inherited cancer risk in patients of varied ancestries

Conference: NSGC 2015

Oct 23, 2015

Identification of a Recurrent Pathogenic Variant in BRIP1

Conference: NSGC 2015

Oct 22, 2015

Pathogenic mutations identified in patients with 6 or more colon polyps

Conference: NSGC 2015

Oct 22, 2015

Hereditary Cancer Testing in Patients of Ashkenazi Jewish Ancestry in the Era of Panel Testing

Conference: NSGC 2015

Oct 22, 2015

Pedigree modeling demonstrates that family history performs poorly for the identification of women with inherited risks for breast cancer

Conference: NSGC 2015

Oct 16, 2015

GI Gap in Genetic Testing for Inherited Susceptibility to Colorectal Cancer

Conference: ACG 2015

Oct 14, 2015

Clinical Presentations of Patients and Families Identified with Pathogenic Variants in CDH1

Conference: CGA-ICC 2015

Oct 09, 2015

Does this patient need to be tested for Lynch Syndrome? Assessing the reliability of family history for ascertainment

Conference: ASHG 2015

Oct 08, 2015

Identification of Retrotransposon Insertion Mutations in Hereditary Cancer

Conference: ASHG 2015

Oct 08, 2015

Analytical validation of a saliva collection and DNA extraction protocol increases accessibility to hereditary pan-cancer panel testing

Conference: ASHG 2015

Oct 08, 2015

Comparison of a Literature Search Algorithm and Curated Publication Database with the Literature Content of Other Locus Specific Databases

Conference: ASHG 2015

Oct 08, 2015

Detection of Large Rearrangements in a Pan-cancer Gene Panel using Next Generation Sequencing

Conference: ASHG 2015

Oct 08, 2015

Examining severity of cancer history in patients with pathogenic variants in ATM

Conference: ASHG 2015

Oct 07, 2015

RNA functional studies for the classification of germline variants of uncertain significance that may impair splicing

Conference: ASHG 2015

Jun 09, 2015

Spectrum of Mutations Identified in a 25-Gene Hereditary Cancer Panel for Patients with Breast Cancer

Conference: ESHG 2015

Jun 01, 2015

Multi-Gene Panel Testing in an Unselected Endometrial Cancer Cohort

Conference: ASCO 2015

Jun 01, 2015

A Study of Triple-Negative Breast Cancer Patients Tested with a 25-Gene Panel of Hereditary Cancer Genes

Conference: ASCO 2015

Jun 01, 2015

Assessment of the Clinical Presentation of Patients with at Least Two Pathogenic Mutations on Multigene Panel Testing

Conference: ASCO 2015

Jun 01, 2015

Outcomes of Clinical Testing for 76,000 Patients Utilizing a Panel of 25 Genes Associated with Increased Risk for Breast, Ovarian, Colorectal, Endometrial, Gastric, Pancreatic, Melanoma, and Prostate Cancers

Conference: ASCO 2015

Mar 27, 2015

CDKN2A Pathogenic Variants Identified in Patients Tested with a 25-Gene Hereditary Cancer Panel

Conference: ACMG 2015

Mar 27, 2015

Utilization of Mutation Co-Occurrence (MCO) Analysis as Evidence for Benign and Likely Benign Variant Classification

Conference: ACMG 2015

Mar 27, 2015

Development of a Novel History Weighting Algorithm for the Reclassification of Genetic Variants Identified in Genes Associated with Lynch Syndrome

Conference: ACMG 2015

Mar 26, 2015

Dosage Analysis by Next Generation Sequencing and Microarray CGH Indicates Putative Processed Pseudogenes in SMAD4 and NBN

Conference: ACMG 2015

Mar 26, 2015

Validation of Utilizing In Trans Co-Occurrence or Homozygosity to Downgrade the Classification of Genetic Variants in the BRCA1, BRCA2 and Lynch Syndrome Genes

Conference: ACMG 2015

2014

Dec 12, 2014

Spectrum of Mutations Identified in a 25-Gene Hereditary Cancer Panel for Patients with Breast Cancer

Conference: SABCS 2014

Dec 12, 2014

Experience in the Community Oncology Practice With a 25-Gene Hereditary Cancer Panel

Conference: SABCS 2014

Oct 21, 2014

Complexities in genetic testing for allogeneic bone marrow transplant recipients and patients with hematologic malignancies

Conference: ASHG 2014

Oct 19, 2014

The predictive power of breast cancer family history in the clinic

Conference: ASHG 2014

Sep 18, 2014

Detection of Pathogenic Mutations in Moderate Penetrance Breast Cancer Genes Significantly Increases the Number of Patients Identified as Candidates for Increased Screening

Conference: NSGC 2014

Sep 18, 2014

Determining the clinical significance of BRCA1 and BRCA2 intronic and exonic splicing variants

Conference: NSGC 2014

Sep 15, 2014

Clinical presentations of MMR mutation positive patients with no personal or family history of colon or endometrial cancer

Conference: CGA-ICC 2014

Sep 15, 2014

A review of Lynch Syndrome patients with colon cancer with little or no family history by age: A diagnostic laboratories experience

Conference: CGA-ICC 2014

Jun 02, 2014

Analysis of Patients with Two Hereditary Cancers (Breast/Ovarian or Colon/Endometrial) Who Met NCCN Genetic Testing Criteria After Their First Cancer

Conference: ASCO 2014

Jun 01, 2014

The Clinical Experience - Hereditary Cancer Testing by a 25-Gene Panel

Conference: ASCO 2014

Jun 01, 2014

Impact of 25-gene panel testing and integrated risk management tool on medical management in hereditary cancer syndrome evaluation

Conference: ASCO 2014

Jun 01, 2014

Evaluation of Breast Cancer Incidence in Lynch Syndrome Patients by MMR Gene

Conference: ASCO 2014

May 06, 2014

A prospective evaluation of the feasibility of process engineering intervention on the screening and testing of Lynch syndrome in individuals with a personal and/or family history of Lynch-associated cancers

Conference: DDW 2014

Mar 28, 2014

Clinical Laboratory Review of the Prevalence and Clinical Presentation of Patients with Biallelic Mismatch Repair Mutations

Conference: ACMG 2014

Mar 28, 2014

Align-GVGD, SIFT, Polyphen, MAPP-MMR, Grantham Analysis and Condel are Weak Predictors of the Clinical Significance for Missense Variants

Conference: ACMG 2014

Mar 28, 2014

Determining the Clinical Significance of Silent BRCA1 and BRCA2 Sequencing Variants

Conference: ACMG 2014

Mar 27, 2014

Assessment of Laboratory-Based Quality Control Processes to Ensure Appropriate Utilization of Genetic Testing for Hereditary Cancer Risk

Conference: ACMG 2014

Mar 14, 2014

Evaluating the Personal and Family History Overlap Between Hereditary Cancer Syndromes

Conference: NCCN 2014

Jan 18, 2014

Patients with lynch syndrome gene mutations exhibit overlapping phenotypes with AFAP and FAP

Conference: ASCO-GI 2014

2013

Oct 25, 2013

Clinical Presentation of Patients With Mutations in the APC Regions Associated With AFAP

Conference: ASHG 2013

Oct 25, 2013

A Clinical History Weighting Algorithm Accurately Classifies BRCA1 and BRCA2 Variants

Conference: ASHG 2013

Oct 24, 2013

Development of a Next Generation Sequencing Panel to Assess Hereditary Cancer Risk that Includes Clinical Diagnostic Analysis of the BRCA1 and BRCA2 Genes

Conference: ASHG 2013

Oct 11, 2013

Prevalence of Lynch Syndrome Mutations in Patients With Colorectal and Endometrial Cancer Based on Decade of Diagnosis

Conference: NSGC 2013

Oct 07, 2013

MSI-High Histology is a Predictive Risk Factor for Lynch Syndrome

Conference: CGA-ICC

Oct 07, 2013

Prevalence of Lynch Syndrome and HBOC Among Patients with Primary Endometrial and Ovarian Cancers

Conference: CGA-ICC 2013

Oct 07, 2013

Mutation Breakdown and Variant Rates in Lynch Syndrome

Conference: CGA-ICC 2013

Oct 07, 2013

Overlap Between Lynch Syndrome and Hereditary Breast and Ovarian Cancer Syndrome Among Family Histories in Patients Tested for Hereditary Cancer Syndromes

Conference: CGA-ICC 2013

May 19, 2013

Early Onset Colorectal and Endometrial Cancer Correlates With High Lynch Syndrome Mutation Rate But Mutation Rate Remains High Even in Patients Diagnosed in Their 50s and 60s

Conference: DDW 2013

Mar 22, 2013

Detection of Large Rearrangements in Hereditary Colorectal Cancer Using Microarray CGH

Conference: ACMG 2013

Mar 22, 2013

Segregation Analysis Offers a Mechanism for Variant Reclassification in a Small Subset of Cases but is Especially Powerful in Classifying Deleterious Mutations

Conference: ACMG 2013

Jan 25, 2013

Founder Mutation Versus Full sequencing of MYH for Increasing Clinical Sensitivity

Conference: ASCO-GI 2013

2012

Nov 01, 2012

Detection of Large Rearrangements in BRCA1 and BRCA2 by Microarray-CGH

Conference: ACMG 2012

Oct 01, 2012

Mutation Distribution and VUS Rates Among the Five Genes Currently Analyzed in Lynch Syndrome Testing

Conference: NSGC 2012

Sep 13, 2012

Mutation Analysis of PALB2 in Higher Risk and Lower Risk Patients Negative for BRCA1 and BRCA2 Mutations

Conference: ASCO-Breast 2012

Jun 06, 2012

Profiling Uptake of Single Site Testing (SST) for Familial Cancer (CA) Risk in an Administrative Genetic Testing Database

Conference: ASCO 2012

Mar 01, 2012

Representation of PMS2 Mutations in Patients Seeking Genetic Testing for Lynch Syndrome

Conference: ACMG 2012

Mar 01, 2012

Current Variant of Uncertain Significance Rates in BRCA1/2 and Lynch Syndrome Testing (MLH1, MSH2, MSH6, PMS2, EPCAM)

Conference: ACMG 2012

2010

Oct 02, 2010

Prognostic Value of a Cell Cycle Expression Profile Score Among Men with Conservatively Treated Localized Prostate Cancer

Conference: ESMO 2010

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