If your family history of cancer is cause for alarm, a Hereditary Cancer Test can assist in identifying genetic changes that increase cancer risk. This test can detect mutations associated with eleven distinct hereditary cancer syndromes.
Familial cancer occurs when multiple relatives in your family have cancer at roughly the same age and/or type. Knowing your hereditary risk could have an enormous effect on other members of your family.
Variant of Uncertain Significance (VUS)
Next-Generation Sequencing (NGS), also known as high-throughput sequencing, can significantly enhance cancer patient management by clarifying diagnoses and identifying genetic risks. You can learn more about genetics by clicking the link.
Unfortunately, however, interpreting NGS results can present unique challenges; NGS often uncovers variants thatare not yet considered pathogenic, because they are found in only small numbers of cancer cases or do not impact gene function as predicted; such variants are known as Variants of Uncertain Significance (VUS).
Research proves a VUS as benign when multiple healthy people carry this variant or computer models show it has no significant impact on genetic functioning; this may take many months, years, or decades before being downgraded from VUS status.
NGS testing methods and reference databases, lack of family history data, or incomplete coverage of genes tested may all contribute to missed VUSs. Furthermore, their classification can be further complicated by their presence in various cell types and various places within genes – making it hard for researchers to ascertain whether any missense variant is functional or not.
Clinical and experimental evidence is critical to resolve VUSs as well as guide medical decision-making while at the same time mitigating the stigma associated with them.
Variant of Clinical Significance (VCS)
Medical researchers have yet to pinpoint all of the genetic changes that increase an individual’s risk for hereditary cancer syndromes, so when tests identify gene changes that could increase cancer risk, but their exact impact remains uncertain, they are known as variants of uncertain significance.
As VUS gene changes tend not to have major repercussions for health issues or management decisions, no changes are typically suggested as a result of VUS results – but healthcare providers can assist people in understanding them.
Over time, VUSs may be downgraded or upgraded into benign/likely benign variants (B/LBs) or pathogenic/likely pathogenic variants (P/LPs). Reclassification rates can differ based on factors like patient ancestry and laboratory variant reinterpretation policies for variant interpretation, as well as family disease history or year of initial genetic testing.
Reclassification was seen in 0.4% of VUSs within two years after the initial report and significantly impacted clinical management in 4.6% of cases. Upgrading to P/LP led to increased recommendations regarding breast, ovarian, and colorectal cancer risk management while downgrading VUSs to B/LB resulted in decreased cancer risk management recommendations.
Positive Results
An affirmative test result means you possess a mutation known to increase cancer risk, leading doctors, and researchers to recommend certain screening recommendations or advice, such as earlier mammograms and/or breast MRI scans as part of screening or even surgery to lower cancer risks.
An adverse test result can affect other family members as well, so it is essential that you speak to a genetic counselor about how telling them your results might impact them and any related relatives such as siblings, parents, aunts, uncles, cousins, and grandparents about the impact.
If they carry the same faulty gene as you, they could face a higher risk of cancer which might require lifestyle modifications or risk reduction efforts such as early detection medicine and/or risk-reducing surgeries to decrease it. This is why germline testing in cancer patients is integral. It can help catch life-threatening conditions while there’s still time for early intervention.
Negative Results
A hereditary cancer test that shows you do not carry the gene change linked to cancer in your family is known as a negative outcome, although your genetic counselor will inform you otherwise.
Even without carrying this particular variant, variations exist that do not cause disease; these are known as nonpathogenic variants; additionally, tests may identify changes that medical researchers cannot predict (known as uncertain or variants of undetermined significance).
Although a hereditary cancer test might not detect specific mutations, cancer may still be caused by other factors, including lifestyle choices or environmental influences. If your results are positive, your genetic counselor will discuss its ramifications with you and your healthcare team. You can click the link: https://www.cancer.gov/publications/genetic-counselor to learn more about genetic counseling.
Steps may include lifestyle modifications to reduce cancer risk through screening more regularly or at younger ages, knowing the signs and symptoms of certain cancers, taking medicines that reduce cancer risk, or having preventive surgery in some instances. You and your counselor can also decide whether it would be wise to share the results with any family members who might also want to get tested.