Most cancer is not hereditary; however, some individuals develop cancer as a result of a harmful mutation, also known as a pathogenic variant, in a gene that can be passed down from generation to generation. Overall, inherited mutations are thought to play a role in about 5-10% of all cancers. Mutations in specific genes are often associated with increased cancer risks in specific tumor types. It is estimated that approximately 5-10% of breast cancer, 5% of colorectal cancer, and up to 25% of ovarian cancer is due to a pathogenic variant associated with hereditary cancer susceptibility.
Through the Northwell Health Genomics Alliance, hereditary cancer genetic testing panel options are available based on both tumor site and genetic risk level. Commonly ordered tests are listed below.
Most cancer is not hereditary; however, some individuals develop cancer as a result of a harmful...
The clinical utiliy of cancer genomics in patient diagnosis and management is multifaceted; genetics are...
Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic...
Prenatal diagnostic testing refers to understanding the genotype of the fetus and is performed while...
Inherited heart conditions can affect people of any age and can be life-threatening. For many families...
Inherited neuropathies are a large group of genetically and phenotypically heterogeneous...
Disorders of sex differentiation, also known as disorders of sex development (DSD)...
A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise...
Disorders of the endocrine system result in an imbalance of hormones which may be caused when the...
Genetic factors play a role in many kinds of eye disease, including those diseases that are the...
Some disorders of the blood are hereditary, meaning they are passed down from generation to...
Immunodeficiencies occur when part of the immune system does not function properly. The most...
Inherited metabolic disorders are genetic conditions that result in metabolism problems...
A common factor among mitochondrial diseases is that the mitochondria are unable to...
While most renal disorders are not hereditary, some kidney conditions have known hereditary genetic...
There are more than 100 rheumatic diseases and some have a genetic causative component...
Genetic disorders affecting the skeleton comprise a large group of clinically distinct and...
Genetic skin diseases, or genodermatoses, are hereditary conditions that mainly affect...
An HLA (human leukocyte antigen) disease association is defined as a statistically increased...
Special coagulation testing investigates the blood's ability to clot, and how long it takes...