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There are two causes of PGL/PCC:
HereditaryMainly caused by a faulty SDHx gene (hereditary PGL/PCC syndrome)Approximately 35-40% of individuals who are diagnosed with PGL/PCC may have a hereditary cause. This means that they may have inherited the condition from a parent and can pass it on to their children. Other family members may also be at risk.Hereditary PGL/PCC syndrome is caused by the presence of a faulty (i.e., disease-causing) gene in any of the following genes: SDHA, SDHB, SDHC, SDHD and SDHAF2 – collectively termed the SDH family of genes(SDHx).However, the development of PGL and PCC can also occur in other genetic syndromes like von Hippel-Lindau (VHL), Neurofibromatosis type 1 (NF1) and multiple endocrine neoplasia type 2 (MEN2).
SporadicCaused by age, chance events and/or environmental factorsMost PGL/PCC happen sporadically (by chance) and are driven by factors such as age or lifestyle/environmental exposures (i.e. not hereditary/inherited).Genetic testing can help to clarify if a personal or family history of PGL/PCC is due to a hereditary or sporadic cause.
Hereditary PGL/PCC syndrome follows a dominant inheritance pattern. This means that having one faulty copy of any SDHx gene (i.e., SDHA, SDHB, SDHC, SDHD and/or SDHAF2) gene can cause the condition. It affects both males and females.
Everyone has 2 copies of each gene in their body’s cells:
A maternally or paternally inherited faulty SDHx gene can determine the risk of tumour/cancer development in an individual.
Inheriting the faulty gene from your father will result in hereditary PGL/PCC syndrome and its associated tumour/cancer risks.
Individuals who inherit the faulty SDHD/SDHAF2 gene from their mother almost never develop tumours/cancer (few cases have been reported to present with tumours/cancer).
Individuals who inherit a faulty SDHx gene, regardless of whether they have symptoms or not, still have a 50% chance of passing the faulty gene onto their children.