Jean’s cancer plea
Family urges others to follow up family histories
Thames resident Jean Neshausean has a long history of cancer in her family.
She has lost two siblings to cancer and recently discovered a genetic link which tests revealed to have been passed down three generations.
Her 21-year-old granddaughter carries the gene and suddenly faces a deadline on starting a family.
Now Jean wants to tell her story and encourage anyone with a family history to be tested for genetic predisposition to cancer.
The gene is the mutated version of the BRCA1 gene, which predisposes carriers to breast and ovarian cancer.
Soon after the discovery 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. Too dangerous for surgery Jean has since undergone two rounds of chemotherapy.
Jean lost her sister Isobel to breast cancer, despite her undergoing amastectomy. Isobel refused a second round of chemotherapy.
“Having been through it now myself I understand totally. It’s not nice at all,” Jean said.
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 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 amastectomy: the removal of breast tissue, with the best figures indicating a 95 per cent risk reduction.
There is also increased surveillance for young women, who are recommended annual mammograms and MRIs at a younger age, from age 35.
Men also have an increased risk of male breast and prostate cancer when 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.” Jean’s daughter Gwendol was seeing a breast surgeon when the topic of family history first came up.
“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.”
Jean said the saddest thing was passing the gene to her daughter, Gwendol, and subsequently her granddaughter Emily.
“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.”
For Emily, however, the result was an excuse to have children earlier.
“Obviously it’s a little different for me. It kind of sucks because I have to have my babies by 30 which means I have to speed up every purpose, but I’ve always wanted kids so it’s not different in any way.”
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.”
Every member of the family have the same advice for women: get yourself checked.
“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,” Jean said.
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. Jean Neshausean