Scientific Manuscripts - Myriad MyRisk

Myriad Publications: Manuscripts

Peer-reviewed scientific journals with Myriad authorship.

Click HERE to view posters and other scientific presentations.

2020

Jul 01, 2020

Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes

Conference:

Jun 24, 2020

Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant

Conference:

Jun 08, 2020

Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk

Conference:

Mar 10, 2020

Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer

Conference:

2019

Oct 17, 2019

Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing

Conference:

Sep 23, 2019

A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically

Conference:

Jul 01, 2019

High risk of breast cancer in women with biallelic pathogenic variants in CHEK2

Conference:

Apr 13, 2019

Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing

Conference:

Mar 28, 2019

Multicenter Prospective Cohort Study of the Diagnostic Yield and Patient Experience of Multiplex Gene Panel Testing For Hereditary Cancer Risk

Conference:

2018

Nov 13, 2018

Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting

Conference:

Sep 25, 2018

Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing

Conference:

Aug 16, 2018

Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle

Conference:

Mar 26, 2018

Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

Conference:

2017

Sep 25, 2017

Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.

Conference:

Jul 20, 2017

Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history

Conference:

Jun 27, 2017

Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women

Conference:

Apr 14, 2017

Increased Identification of Candidates for High-Risk Breast CancerÂ Screening Through Expanded Genetic Testing

Conference:

Apr 01, 2017

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

Conference:

Mar 29, 2017

Identification of pathogenic retrotransposon insertions in cancer predisposition genes

Conference:

Mar 29, 2017

Optimization of quality assurance to increase clinical utility and cost effectiveness of hereditary cancer testing

Conference:

Jan 16, 2017

Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel

Conference:

Jan 13, 2017

A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes

Conference:

Jan 03, 2017

Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes

Conference:

2016

Dec 20, 2016

Enumeration and targeted analysis of KRAS, BRAF and PIK3CA mutations in CTCs captured by a label-free platform: Comparison to ctDNA and tissue in metastatic colorectal cancer

Conference:

Dec 20, 2016

Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing

Conference:

Nov 29, 2016

Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort

Conference:

Jul 21, 2016

Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis

Conference:

Jul 01, 2016

Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm

Conference:

May 05, 2016

Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing

Conference:

Mar 14, 2016

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer

Conference:

2015

Aug 28, 2015

Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories

Conference:

Aug 01, 2015

Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome

Conference:

Jun 06, 2015

Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study

Conference:

May 14, 2015

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome

Conference:

May 14, 2015

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome

Conference:

Apr 02, 2015

Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk

Conference:

Mar 18, 2015

Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases

Conference:

Feb 11, 2015

Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes

Conference:

Feb 11, 2015

Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes

Conference:

2014

Dec 11, 2014

Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis

Conference:

Dec 11, 2014

Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis

Conference:

Nov 20, 2014

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study

Conference:

Nov 20, 2014

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study

Conference:

Sep 11, 2014

Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes

Conference:

Sep 03, 2014

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel

Conference:

May 10, 2014

Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis

Conference:

May 10, 2014

Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis

Conference:

Apr 02, 2014

Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk

Conference:

Jan 10, 2014

Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer

Conference:

Jan 10, 2014

Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer

Conference:

2013

Dec 23, 2013

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes

Conference:

Dec 20, 2013

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

Conference:

2012

Nov 01, 2012

The PREMM(1,2,6) Model Predicts Risk of MLH1, MSH2, and MSH6 Germline Mutations Based on Cancer History

Conference:

Aug 01, 2012

Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas

Conference:

Apr 03, 2012

Thirty-nine-year-old with familial colon cancer, and variant of undetermined significance in MSH6

Conference:

2006

Sep 27, 2006

Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome

Conference:

Myriad's family of products

Identifies risk of developing 11 hereditary cancers

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Identifies risk of breast cancer recurrence to inform treatment strategies

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Identifies BRCA1/2 mutations to inform treatment strategies

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Identifies HRD status to inform treatment strategies

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Identifies prostate cancer aggressiveness to inform treatment strategies

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Identifies at-risk couples for a pregnancy affected by inherited conditions

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Identifies risk of chromosomal conditions for expectant parents

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Identifies how genes affect outcomes with certain mental health medications

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