Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
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.
The Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA, offers an open access, no-cost genetic testing program called the My Retina Tracker Program®. This program is for individuals living in the United States, with a clinical diagnosis of an inherited retinal degeneration (IRD). In this webinar-workshop, we will review the program features and the online ordering process.
El equipo de Blueprint Genetics no está ajeno al reto de resolver casos complejos. Durante este seminario web, la Dra. Rocío Sánchez Alcudia, genetista en Blueprint Genetics, describirá, a través de ejemplos de casos pediátricos, algunos de los desafíos más recientes a los que se ha enfrentado nuestro equipo para llegar a un diagnóstico molecular.
The Blueprint Genetics team is no stranger to challenging cases. In this webinar, Senior Geneticist, Dr Kirsty Wells and Clinical Liaison Julie Hathaway, will describe, through pediatric case examples, some of the team’s most recent efforts at arriving at a molecular diagnosis. They demonstrate how teamwork, combined with innovative technology, bioinformatics and skilled interpretation, can solve even the most difficult of cases.