Berries Health-Familial Cancer Genetic (CGx) Testing Panel 

The Berries Health- Familial Cancer (CGx) Panel examines 193 genes associated with hereditary cancers. This panel includes both well-established genes that increase a person’s risk for cancer, but also includes candidate genes that may have only been recently discovered or for which additional research is needed. 

This panel identifies genetic factors that increase the risk of various cancers, including breast, ovarian, colon, prostate, melanoma and many more. This test examines inherited genetic variations (germline mutations) linked to a higher risk of cancer, enabling healthcare providers to personalize patient care. 

Methodology:

The CGx panel analyzes a panel of genes for genetic changes compared to reference variants associated with increased cancer risk. The BH- Comprehensive Familial Cancer Panel is a Laboratory Developed Test (LDT) validated at BH lab partner using the Twist Exome 2.0 and Illumina NovaSeq6000 NGS platform. This clinical LDT test has not been cleared or approved by the FDA. 

Interpreting Test Results:  

• Positive Result: Indicates identification of a variant linked to cancer, providing patients and healthcare providers an opportunity to manage cancer risks. For those already diagnosed, results can inform treatment decisions and help assess risks for other cancers. Family members may also gain insights into their cancer risks. 

• Variation of Uncertain Significance (VUS): A result may report a VUS when a change has not been previously linked to cancer. These results are uncertain and typically do not guide healthcare decisions. With ongoing research, VUS may be reclassified as benign or associated with increased cancer risk, underscoring the importance of regular communication with healthcare providers. 

• Negative Result: Signifies no specific cancer-linked variants were found, indicating the patient does not have a genetic variation associated with cancer from the tested genes. 

Genetic Counseling: 
Genetic counseling is recommended to discuss test results, potential risks, and implications. Testing can evoke emotional and social challenges, such as psychological stress from discovering an increased cancer risk or navigating decisions about sharing results with relatives.  

Limitations of Testing 

This test is designed to identify germline pathogenic variants, including single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels) of up to 1 kilobase pair (kbp). It also analyzes mutations within coding regions and the exon-intron boundaries, specifically within 50 base pairs. Any deletions or duplications larger than 1 kbp that are reportable will be confirmed using orthogonal methods before being included in the final report.

Berries Health-Familial Cancer Genetic (CGx) Testing Panel