Birt-Hogg-Dube syndrome - Gene FLCN Test Cost & Procedure

Description

The risk of specific tumour forms is raised by Birt-Hogg-Dubé syndrome, a rare condition that affects the skin and lungs. Each person who is afflicted has different signs and symptoms.

Many noncancerous (benign) skin lesions, especially on the face, neck, and upper chest, are the hallmarks of Birt-Hogg-Dubé syndrome. A person normally experiences these growths for the first time in their twenties or thirties, and they progressively get bigger and more numerous. A pneumothorax—an abnormal buildup of air in the chest cavity—that could cause a lung to collapse—as well as cysts in the lungs—both of which are more common in those who are affected—are also heightened risk conditions. A higher risk of acquiring kidney tumours, whether malignant or not, is also linked to Birt-Hogg-Dubé syndrome. Affected individuals have also been reported to develop other cancers, however it is unknown whether these tumours are truly a symptom of Birt-Hogg-Dubé syndrome.

Causes

Birt-Hogg-Dubé syndrome is brought on by FLCN gene mutations. The folliculin protein is made with the help of this gene. Although its typical role is unknown, scientists think that this protein may have tumor-suppressing properties. Tumor suppressors stop cells from proliferating and developing too quickly or uncontrollably. Folliculin regulates cell growth and division, but mutations in the FLCN gene may impair this function, causing uncontrolled cell proliferation and the development of both non-malignant and cancerous tumours. Researchers are still trying to figure out how FLCN mutations raise the risk of lung issues like pneumothorax.

Inheritance

One mutated copy of the FLCN gene in each cell is enough to result in the disorder because this condition is inherited in an autosomal dominant manner. An affected person typically receives the mutation from one of their parents. Less frequently, the ailment develops in people without a family history of the disorder due to a novel mutation in the gene.

The Birt-Hogg-Dubé syndrome's skin cancers and lung issues can be brought on by just one mutant copy of the FLCN gene in each cell.

How Is Bhd Identified?

When a person develops skin tumours (fibrofolliculomas) linked to BHD, BHD is also suspected in families with many kidney cancer instances, especially when family members have experienced various forms of kidney cancer or certain forms of kidney cancer that are known to be linked to BHD. For those suspected of having BHD, genetic testing is available to check for FLCN gene mutations.