Breaking News: Myriad Genetics Acquires Gateway Genomics | Learn More
The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.
This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.
The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the FH gene.
This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.
Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance of carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention.
In rare instances, an individual may inherit mutations in both copies of the FH gene, leading to the condition Fumarase Deficiency, or Fumaric Aciduria. Individuals with this condition have severe neurologic problems during infancy, usually leading to death in childhood. The children of this patient are at risk of inheriting Fumarase Deficiency only if the other parent is also a carrier of an FH mutation. Screening the other biological parent of this patient for FH mutations may be appropriate even if they do not have a diagnosis of HLRCC.1
Since FH mutations have a risk for cancers in children and some screenings may be considered to begin at young ages, mutation testing should be considered in childhood, before beginning MRI screening.2, 6