Heather L. Hampel

Application of a Concise Video to Improve Patient Understanding of Tumor Genomic Testing in Community and Academic Practice Settings

Deloris Veney, Lai Wei, Jaden Miller, Amanda E. Toland et autres

ABSTRACT Purpose Tumor genomic testing (TGT) is standard-of-care for most patients with advanced/metastatic cancer. Despite established guidelines, patient education prior to TGT is frequently omitted. The purpose of this study was to evaluate the impact and durability of a concise 3-4 minute …

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Association of germline variants with KRAS-mutation status in colorectal cancer

Nijole P. Tjader, Johnny R. Ramroop, Tanish Gandhi, Cara Dauch et autres

Somatic mutations in KRAS are a common driver of colorectal cancer (CRC) and present at different frequencies by race, sex, tumor site, ethnicity, and genetic similarity. Inherited germline variants may influence tumor somatic mutation frequency by altering mutation or DNA repair processes …

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A scalable new model of germline cancer genomic care delivery: Assessing psychological outcomes

Ilana Solomon, Patrick Boyd, Yi Xiao, Kathryn R. Dang et autres

PURPOSE: New care models promise to increase access to germline genetic testing. To decrease testing gaps, we offered universal germline testing without pretest genetic counseling to unselected patients at a comprehensive cancer center. To address safety concerns over the elimination of pretest …

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A video intervention to improve patient understanding of tumor genomic testing in patients with cancer

Deloris Veney, Lai Y. Wei, Amanda Ewart Toland, Carolyn J. Presley et autres

INTRODUCTION: Tumor genomic testing (TGT) is standard-of-care for most patients with advanced/metastatic cancer. Despite established guidelines, patient education prior to TGT is frequently omitted. The purpose of this study was to evaluate the impact of a concise 4 min video for patient …

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Cancer Risks for PMS2-Associated Lynch Syndrome (vol 29, pg 2961, 2018)

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Stefan Aretz et autres

This corrects the article Cancer Risks for PMS2-Associated Lynch Syndrome in volume 36 on page 2961.

Cancer Risks for PMS2 -Associated Lynch Syndrome

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Stefan Aretz et autres

PURPOSE: Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. However, the age-specific cumulative risk (penetrance) …

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American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility

Mark E. Robson, Angela R. Bradbury, Banu Arun, Susan M. Domchek et autres

The American Society of Clinical Oncology (ASCO) has long affirmed that the recognition and management of individuals with an inherited susceptibility to cancer are core elements of oncology care. ASCO released its first statement on genetic testing in 1996 and updated that …

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ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

Sapna Syngal, Randall E. Brand, James M. Church, Francis M. Giardiello et autres

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the …

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Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General’s My Family Health Portrait

W Feero, Flavia M. Facio, Emily Glogowski, Heather L. Hampel et autres

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Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

Samantha B. Foley, Jonathan J. Rios, Victoria Mgbemena, Linda S. Robinson et autres

mutations and led to cancer risk diagnoses in 21% of non-BRCA cancer genetics patients after expanding our analysis to 3209 ClinVar genes. These data illustrate how WGS can be used to improve our ability to discover patients' cancer genetic risks.

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Microsatellite Instability Detection by Next Generation Sequencing

Stephen J. Salipante, Sheena M. Scroggins, Heather L. Hampel, Emily H. Turner et autres

BACKGROUND: Microsatellite instability (MSI) is a useful phenotype in cancer diagnosis and prognosis. Nevertheless, methods to detect MSI status from next generation DNA sequencing (NGS) data are underdeveloped. METHODS: We developed an approach to detect the MSI phenotype using NGS (mSINGS). The …

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Abstract 2998: Identification of AURKA- and PTPRJ-interacting human colorectal cancer susceptibility alleles.

Madelyn M. Gerber, Nathan P. Schulz, Mehmet Deveci, Heather L. Hampel et autres

Abstract Colorectal cancer (CRC) causes nearly 50,000 deaths in the United States each year and therefore represents the third leading cause of cancer-related deaths. The identification of susceptibility variants that interact to modulate risk for sporadic CRC would have immense value as …

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