Hereditary Cancer

We offer comprehensive genetic diagnostics for a number of disorders associated with hereditary cancer susceptibility. These cancer panels cover genes associated with cancer types originating from the gastrointestinal tract, the endocrine and neuroendocrine systems, different organs such as the lungs, kidneys, liver, pancreas, skin, and eyes, gathering the known genetic defects presenting early in childhood.

Genetic testing for hereditary cancer

Hereditary cancer syndromes account for approximately 5–10% of all cancer. When multiple relatives on the same side of the family have the same or related forms of cancer, present with cancer at an early age, or multiple cancers present in an individual, hereditary cancer is suspected. The most common inherited cancer syndromes are hereditary breast and ovarian cancer syndrome, Lynch syndrome (also known as hereditary non-polyposis colorectal cancer), Li-Fraumeni syndrome, Cowden syndrome, familial adenomatous polyposis, Von-Hippel Lindau syndrome, and multiple endocrine neoplasia type 1 and type 2. Most of the hereditary cancer syndromes are inherited in an autosomal dominant manner and penetrance is high.

What genetic diagnostics can offer patients with hereditary cancer

Genetic testing is the most effective way to identify individuals with a genetic predisposition toward developing cancer. The risk of developing breast cancer is 65% for BRCA1 mutation carriers, and patients with Lynch syndrome have a 78% lifetime risk of developing colorectal cancer.

Genetic diagnostics makes personal cancer risk assessment possible, and knowing the inherited genetic defect can be useful when planning the treatment or follow-up of both unaffected and affected family members. Cancer mortality can be significantly reduced in high-risk patients through regular examination and preventive strategies. For example, colonoscopic screening at 3-year intervals cuts the colorectal cancer risk by more than half, prevents deaths, and decreases the overall mortality by about 65% in Lynch syndrome families (PMID: 10784581). Moreover, multi-gene panels can provide genetic diagnostics for patients with an atypical phenotype or family history of multiple cancers. Additionally, genetic diagnosis can help in family planning.

Find the right test for your patient

How to order

Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.

Our clinical statement is industry leading.

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News

Full transparency sets a new standard for quality

Published on June 21, 2017

Blueprint Genetics is committed to provide the highest quality genetic testing for our customers. Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we…

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Podcast

Transparency in genetic diagnostics

Published on June 15, 2017

There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.

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Resource

 Validation of clinical testing

[WHITE PAPER] Validation of clinical testing – Setting a new standard for clinical testing through fully transparent validation. Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the pipeline, and is the foundation for setting quality standards for the carried tests. Blueprint Genetics performs analytic…

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