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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: Hereditary Cancer

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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 21, 2024

A GC’s Perspective on Lab Expertise: Getting Answers After Years of Uncertainty

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Meagan Farmer, MS, MBA, LCGC
Genetic counselor Kaitilin Stokes discusses hereditary cancer testing and resolving VUS in CDKN2! and APC genex.
Genetic Counselors
Genetic Testing
Hereditary Cancer
VUS
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February 7, 2024

CARE Patient Examples at Lake Health

Liese Vito
Liese Vito, Obstetrician-Gynecologist, Lake Health Physician Group Women’s Health Specialists
Dr. Liese Vito shares examples of hereditary cancer testing at Lake Health for patients with a BRCA+ and PMS2 mutation and the preventative healthcare measures…
BRCA1 & 2
Breast Cancer
Colorectal Cancer
Genetic Testing
Hereditary Cancer
OBGYN
Ovarian Cancer
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January 24, 2024

Hereditary Cancer Testing with CARE

Liese Vito
Liese Vito, Obstetrician-Gynecologist, Lake Health Physician Group Women’s Health Specialists
Dr. Liese Vito describes the CARE Program at Lake Health and how it was able to help them offer hereditary cancer screening and genetic testing…
Breast Cancer
Genetic Testing
Hereditary Cancer
OBGYN
Ovarian Cancer
Prevention
Screening
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December 5, 2023

Addressing equity in exome sequencing: Proactive reanalysis through the Ambry Patient for Life program helps to reduce racial, ethnic, and ancestral disparities

Emerging evidence shows that exome sequencing outcomes can see similar racial and ethnic disparities as other genetic tests. Therefore, exome reanalysis represents a step to…
Genetic Discrimination
Hereditary Cancer
Whole Exome Sequencing