Heartbreak of healthy fathers who pass breast cancer gene to daughters
TenDeRLY holding her father’s hand, Alison Dagul relayed the news she knew would break the elderly man’s heart. Alison had just been diagnosed with aggressive breast and ovarian cancer, and now blood tests had revealed the cause: a defective gene.
not only had she inherited this gene mutation from her father, but the tests showed it had been passed on to her daughter Gaby, 24, too.
‘even as I was telling Dad, part of me was still too shocked and horrified to believe this could be happening,’ says Alison, a personal assistant.
‘Until the cancer diagnosis several weeks earlier, I was just a healthy 50-year-old woman. I’d watched my son and daughter grow into fine young people and was looking forward to growing old with my husband Anthony.
‘Suddenly my whole world came crashing down around me.’
Her father, Gerry Abrahams, 91, sitting next to her, nods in sad acknowledgement.
As Gerry, a retired businessman and company director, who has never had a major health problem, explains: ‘It’s bad enough to watch your daughter undergo horrible cancer treatment. But to know my granddaughter was at risk, too, made it so much worse.
‘I felt so dreadfully responsible — and so utterly helpless. I’ve lived a long life and it seems so unfair.’
Alison, Gerry and Gaby are carriers of a rogue version of a gene known as BRCA1 — the mutation gives women who carry it up to an 80 per cent chance of developing breast cancer.
Though many people will assume that breast cancer risks are passed on only through the female side of the family, if a man carries the faulty gene then his child has a 50/50 chance of inheriting it.
Men with the faulty gene have a one in ten risk of developing breast cancer themselves and a 25 per cent risk of prostate cancer.
‘It’s important to point out that half of women suffering with genetic breast cancer will have inherited it from their father,’ says Gareth evans, Professor of Medical Genetics and Cancer epidemiology at the University of Manchester.
What causes Alison and her family particular heartache is that she could have taken preventative measures to reduce her chance of developing the disease had she known these female cancers could be inherited from male relatives.
Her paternal grandmother, Annie, died of breast cancer in 1961 at the age of 60, and her aunt, Pauline, died of the same disease 30 years ago at 52.
But, as Alison, who lives in London, says: ‘none of us had any idea my dad’s family raised our risk of getting breast and ovarian cancer. Like so many women, I just assumed breast cancer came down the mother’s line, not the father’s.
‘Had I known I would have been gene tested and maybe had a preemptive mastectomy and my ovaries removed. I could have avoided these terrible cancer diagnoses.’
The connection between breast and ovarian cancer and faulty BRCA genes (there are two, BRCA 1 and BRCA 2) was established in the nineties. Clinics were set up where those at risk could have blood tests for faulty genes.
As part of her private health cover, Alison has had mammograms for the past eight years and annual gynaecology check-ups. Though she had previously told doctors about the cancer in her father’s family, she says no one ever pointed out she was at risk.
Alison’s diagnosis came in July 2014 when — almost a year since her last mammogram, which had been clear — she noticed thick veins protruding down the front of each breast while taking a shower.
This is called Mondor’s disease — a rare condition caused by inflammation of a vein just under the skin of the breast or chest wall.
Though not cancerous, it can be associated with cancer.
She saw her GP and was referred for a mammogram. This was clear, but mammograms may not show any lumps if, like Alison, the woman has dense breasts. She was then given an ultrasound, which revealed a lump in her right breast.
A biopsy confirmed she had a rare form of breast cancer. She had surgery to remove the lump four days later.
However, after the operation, blood tests showed Alison had a high CA125 reading — this is a protein that has been linked to ovarian cancer. Further tests confirmed Alison had this disease, too — her doctor told her it was inoperable and put her on six months of chemotherapy.
‘ I couldn’t believe what was happening to me. I thought I had the perfect life.’
It was this second cancer that led her specialists to suspect some form of gene mutation.
Alison was referred to a genetics specialist at her local hospital to look through her family tree.
She was also tested for the rogue BRCA genes — the results of which came through six weeks later in August 2014.
As Alison’s mother had died six years earlier (of a non-inherited form of blood cancer), her father was tested to see if there was a family link.
‘The geneticist thought my dad was one of the oldest people he had ever tested. I couldn’t believe this could be happening as I’d never heard of it.’
HER daughter Gaby was tested in September 2014 and found to be also carrying the BRCA1 gene. She plans to have a pre-emptive mastectomy. Recently married, once she has had a family, Gaby will have her ovaries and fallopian tubes removed ( she has been advised to do this before she’s 35).
While this will reduce her risk of breast and ovarian cancer, it will not avoid passing on the genes.
One option for young women planning a family is to have preimplantation genetic diagnosis (PGD) — where you conceive with IVF and a screening test is used to determine if genetic or chromosomal disorders are present in the embryo before it is implanted.
In order to qualify for the procedure, there must be a significant risk of passing on a genetic condition that has been confirmed by tests.
As understanding of the role of genes in cancer and other serious disease such as Huntington’s grows, more families will face the heartbreak — and difficult decisions — Alison and her family have had to endure.
The question is what those who carry such genes do with their knowledge. ‘With some genes, such as the faulty BRCA 1, preventative surgery may ultimately be necessary — but even in these situations there needs to be a little time to let the news and shock settle before anything is done,’ says Alison Lashwood, a consultant genetic counsellor and clinical lead in pre-implantation genetic diagnosis at Guy’s and St Thomas’ nHS Trust in London.
‘If a parent discovers they carry genes linked to inherited illnesses, they first need to have some thinking time of their own.
‘Then they should speak to a genetics counsellor to get accurate information so they know the exact nature of their situation. Then they should speak to their children.’
Meanwhile, Professor evans says it is vital for women to understand the possibilities of inheriting the faulty BRCA 1 or 2 gene from both sides of their family and to tell doctors if they have a breast or ovarian cancer history in first-degree relatives — ie, parents or siblings, including male relatives who have had prostate cancer, which can be associated with the faulty genes.
It is also known that people are more likely to have the faulty genes if, as well as breast cancer, a close relative (male or female) has had pancreatic cancer.
By the same token, men should be increasingly aware of developing prostate cancer if there is genetic breast cancer in the family.
For Gerry, the message is simple: ‘I’ve now learnt, to all our great cost, that male carriers can live long and healthy lives, unaware they can pass it on to the next generation.
‘If I’d known from early on, at least Alison could have maybe had more of a chance to take pre- emptive action to avoid cancer.’
Alison, who is on a form of maintenance chemotherapy every three weeks to keep the cancer at bay, is emphatic: ‘My cancer could have been avoided if only I had known about the male link.
‘My mission is for women to understand about the connection with their father’s family history.’