A gene mutation that can cause a specific type of kidney cancer has been detected in at least 30 members of a Hunter family.
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Due to some extensive family tree research, it has been confirmed that all family members found to be carrying the gene mutation (fault) are descendants of Thomas Christopher Caban, a convict who lived in the Wollombi area in the 1830s.
Mutations in the MET proto-oncogene cause hereditary papillary renal cell carcinoma (HPRCC), a rare condition that places an individual at a higher risk of developing multiple (usually slow-growing) papillary type 1 renal cancers.
The gene fault can be detected with a simple blood test after a discussion with a genetic counsellor.
Hunter Family Cancer Service genetic counsellor Margaret Gleeson said the condition was first identified in the Caban family in 2001 when a family member was referred to the Hunter Family Cancer Service.
“The patient presented with multiple cancers in both kidneys and the geneticist suspected there was a problem,” she said.
The patient’s DNA was sent overseas for genetic testing and a mutation was found in the MET gene.
Ms Gleeson said that finding the family’s specific mutation then opened the floodgates for testing of other family members.
Since the condition was discovered, 69 family members across NSW have been tested for the gene fault.
Ms Gleeson said the family’s extensive research into their ancestry has been a huge benefit.
“There are only a handful of families like this in the world,” she said.
“It has been very unusual that we have been able to test so many people.”
Of the 69 family members tested, 31 have returned positive results for the gene fault, which has a 50 percent chance of being passed on to the offspring of carriers.
Four of these people were found to have cancers that required surgery, while a number of others had small cancers that did not warrant intervention.
Cessnock man, Les Norley, 65, and his son Peter, 34, are among those who have had cancers removed.
They were diagnosed 10 days apart in 2015, and both underwent radiofrequency ablation procedures last year to treat the cancers.
Les also underwent keyhole surgery to have part of his kidney removed.
Both men say the procedure was worthwhile, as it allowed them to take control of their own health.
“It was at the stage where we’ve been told it can’t kill us, but we might as well see about getting it fixed,” Les said.
Peter said while it’s scary not knowing whether he has passed the gene fault on to his two young daughters (who will not be able to be tested until they are over 18 years of age), he was glad to have had the procedure, and “get on with his life.”
The men encourage anyone who thinks they may be related to the Caban family to contact the Hunter Family Cancer Service.
“Have the blood test – if you haven’t got the gene (fault), end of story,” Les said.
“And if you do, there are steps to follow to do something about it.”
The condition can be variable between family members and not all people who carry the gene mutation will develop a renal cancer over their lifetime.
Some literature quotes the chance of a carrier developing a renal cancer as 20-to-70 percent. Those who have the gene fault are encouraged to have regular screening of their kidneys.
Ms Gleeson said the more family members who get tested, the more can be learnt about the penetrance of the gene mutation for the family.
“It’s a very rare condition – it may be under-reported because the kidney cancer has never caused a problem,” she said.
“We don’t have many families to study, and the early studies looking at the condition involved extreme cases.”
Ms Gleeson said the genetic counselling appointment gives people “the opportunity to discuss what it (the condition) might mean to them”.
“The take-home message is that it is a manageable condition,” she said.
“People could go years and years without knowing they have a problem at all.
“Many (of the Cabans’) ancestors would have lived long and healthy lives with the small cancers. But the counselling and testing allows people to be proactive.
“It’s empowering people to take control of their own health.”
Testing can be arranged through Family Cancer Clinics, which operate in all states of Australia.
The Hunter Family Cancer Service, directed by Professor Allan Spigelman, is located at Waratah and can be reached on 4985 3132.