Basal Cell Nevus syndrome (BCNS)

What is Basal Cell Nevus syndrome (BCNS)?

Sometimes referred to as Gorlin syndrome, Basal Cell Nevus is a genetic condition that puts affected individuals at a possible greater risk of cancer.

Affected individuals are at higher risk of being diagnosed with basal cell carcinoma (the most common form of skin cancer) during puberty.

Defining features of the syndrome include issues with the skin, endocrine and nervous systems, eyes and bones.

What gene changes cause Basal Cell Nevus syndrome (BCNS)?

Mutations in the PTCH, PTCH2, PTCH1 and SUFU gene are responsible for the syndrome.

Mutations in these genes affect the sonic hedgehog and SMO signaling which control cell growth. This disruption is believed to be responsible for causing the cancers associated with this condition.

The syndrome can be inherited in an autosomal dominant pattern but many cases are the result of a de novo or new mutation.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Basal Cell Nevus syndrome (BCNS)?

Basal cell carcinomas and cancers, as well as non dematological tumours.

Unique facial features of the syndrome include a large head and coarse face, high arched eyebrows, widely spaced eyes and a broad nasal bridge. A cleft lip or palate may also be present.

Other physical characteristics of the syndrome include skeletal abnormalities, such as fused ribs.

How does someone get tested for Basal Cell Nevus syndrome (BCNS)?

The initial testing for Gorlin syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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