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NEWS

Science, Stories & the Future of Genomics

For clinicians, patients, and the curious — insights on genomics, hereditary conditions, and the stories that remind us why this work matters.

Articles Tagged: Variant of Unknown Significance

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October 31, 2024

Striking the Perfect Balance in Designing Hereditary Cancer Tests: The Ambry Approach

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Jessica Grzybowski, Lead Genetic Counselor, Reporting – RNA, Ambry Genetics
Ambry’s balanced approach to designing hereditary cancer tests ensures our panels remain relevant and impactful, helping clinicians manage hereditary cancer risk with confidence.
Genetic Testing
Genetic Testing Accuracy
Hereditary Cancer
Multigene Panel Testing
Variant of Unknown Significance
VUS
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October 17, 2024

The Evolution of Hereditary Cancer Testing: Why Pan-Cancer Panels Are the Future of Genetic Risk Assessment

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Elizabeth Chao, Laboratory Director, Ambry Genetics
Pan-cancer panels offer more comprehensive diagnoses, personalized risk assessments, and targeted prevention and treatment strategies.
BRCA1 & 2
Genetic Testing
Genetic Testing Accuracy
Hereditary Cancer
Multigene Panel Testing
Ovarian Cancer
Variant of Unknown Significance
VUS
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March 28, 2024

APC: New Takes on an Old Gene

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Marcy Richardson, Variant Assessment Scientist, Ambry Genetics
Pathogenic variants in the APC gene cause conditions such as FAP and GAPPS. Marcy Richardson breaks down genotype-phenotype correlations and how they cause one condition…
Colorectal Cancer
Genetic Testing
Genetic Testing Accuracy
Hereditary Cancer
Variant of Unknown Significance
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March 5, 2024

Greater than the Sum of its Parts: Gene-Disease Validity and Breast Cancer

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Jennifer Herrera-Mullar, Sr. Genetic Counselor, Cancer Reporting
Jennifer Herrera-Mullar discusses the correlation between breast-cancer associated genes and gene-disease validity
Genetic Testing
Hereditary Cancer
Variant of Unknown Significance
VUS
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February 23, 2024

Variant Interpretation in Real Time: Sometimes it Takes a Village

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Carrie Horton, Sr. Clinical Research Specialist – Oncology
Genetic counselors explain how a CDH1 variant was classified as likely pathogenic from VUS status.
Breast Cancer
Genetic Testing
RNA
Variant of Unknown Significance
VUS
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December 19, 2023

The Path to Clinical Relevance: What a Study on RAD51C Reveals about Resolving VUS

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Marcy Richardson, Variant Assessment Scientist, Ambry Genetics
Marcy Richardson, PhD discusses variant interpretation, VUS, and recategorizing missense genes with an example from Hu et al’s recent publication on RAD51C.
Genetic Testing
Genetic Testing Accuracy
PALB2
RAD51D
Variant of Unknown Significance
VUS