Young woman urges others to take gene test

Emily Wilburn (left) and Jean Neshausean in korowai Jean made at Matai Whetu Marae in Thames.

Hamilton woman Emily Wilburn is no stranger to cancer.

A number of family members have died over the years and a recent investigation by the family has revealed that relatives across three generations carry the mutated version of the BRCA1 gene.

The mutated gene predisposes carriers to breast and ovarian cancer, and having tested positive, the 21-year-old is now facing a deadline on having a family. Emily wanted to talk about her experiences in the hope anyone else with high rates of cancer in their family will get themselves tested.

Far from despairing, however, for Emily the result was an excuse to have children earlier.

"It kind of sucks because I have to have my babies by 30, but I've always wanted kids."

It is a time pressure her boyfriend of two years seems happy with.

"He was always expecting to have kids, so I just said it's going to be sooner than we expected."

Emily's grandmother Jean Neshausean lost two siblings to cancer.

Soon after the discovery of the gene Jean underwent a recommended surgery to remove her ovaries and fallopian tubes.

"We call it upstairs/downstairs cancer. They suggested we have our ovaries and fallopian tubes removed because they cannot detect cancer there yet," Jean said.

Midway through the surgery, however, it was discovered she already had an 8cm growth on her right ovary. Two weeks later Jean was in Auckland Hospital to have the growth removed. Her troubles were not over, with a second tumour growing around her heart. Jean has since undergone two rounds of chemotherapy.

Jean lost her sister Isobel to breast cancer, despite her undergoing a mastectomy. Isobel refused a second round of chemotherapy.

"Having been through it now myself I understand totally. It's not nice at all," Jean said.

Jean wanted to tell her story to encourage anyone with a family history to be tested for genetic predisposition to cancer.

"If people speak to their parents and find out there have been a lot of members of the family dying of cancer you have to get genetic tests - you have to do it," she said.

Jean said the saddest thing was passing the gene to her daughter, Gwendol, and subsequently her granddaughter Emily.

Jean Neshausen after her second round of chemotherapy.

"It's gut-wrenching, and it's like my daughter said to me, 'you couldn't have known, Mum', but you still feel as guilty as hell. I feel totally responsible."

Genetic Health Service northern hub team leader Kim Gamet said BRCA1 and BRCA2 were genes everyone has which function as tumour suppressors.

"The carrier frequency of a pathogenic mutation in BRCA1 and BRCA2 is between about one in 500 and one in 800 depending on the gene. So they are rare."

The mutated forms of the BRCA1 and BRCA2 gene are both dominant genes, meaning a 50 per cent chance of passing it onto children.

"It's an inherited predisposition to cancer. It does not mean the carrier will definitely develop a cancer. It definitely doesn't tell us where or when or how," Mrs Gamet said.

According to Australasian figures the genes present a 60 per cent lifetime risk of breast cancer, compared to 12 per cent in the general population, and a risk of ovarian cancer between 20 and 40 per cent, compared to around one per cent in the general population.

Current guidelines when dealing with BRCA1 and BRCA2 involves risk-reducing surgery in the form of removal of the ovaries and fallopian tubes around the age of 40 when a woman has finished child bearing.

"That gains the best reduction in risk from having that procedure done. It's a very individual situation and choice."

Mrs Gamet said the surgery reduced risk by about 98 per cent.

Some women may also opt for a mastectomy, the removal of breast tissue, with the best figures indicating a 95 per cent risk reduction.

There is also increased surveillance for young women, with annual mammograms and MRIs at a younger age, from age 35.

Men also have an increased risk of male breast and prostate cancer when they are a carrier.

Although there are more than 60 types of cancer syndrome they are extremely rare, and Mrs Gamet said BRCA1 and 2 were the most known about.

"Only about five to 10 per cent of cancers that happen, happen because of inherited predisposition, so they are uncommon."

The family first started looking into a genetic link when Emily's mother Gwendol was seeing a breast surgeon.

"She said we should book you for genetic testing. You're in shock at the time and think yes, great.

"I honestly thought I would have been fine. I was very surprised when it came back positive.

"I think we've just tried to be positive and say it gives us information which enable us to make choices that suit us better. In some ways we are are quite fortunate because we can do some preventative stuff."