Women should be offered genetic screening to detect breast cancer which affects thousands of people every year but is routinely missed by mammograms, a charity says.
More than 8,000 women a year in the UK are diagnosed with lobular breast cancer, which rarely forms a lump and is extremely difficult to recognize in its early stages.
A new study suggests that some cases are hereditary and caused by a faulty gene, meaning tests could have the potential to identify women at risk for the disease even before the cancer starts to grow.
Similar tests are available for genes linked to other types of breast cancer. Hollywood star Angelina Jolie underwent a double mastectomy after tests for the BRCA gene showed she was at high risk.
Now a charity has called on the health service to consider testing women for the rare CDH1 gene.
BBC presenter Victoria Derbyshire, 55, was diagnosed in 2015 after researching online what caused an inverted nipple
Hollywood star Angelina Jolie underwent a double mastectomy after tests for the BRCA gene showed she was at high risk
More than 8,000 women a year in the UK are diagnosed with lobular breast cancer, which rarely forms a lump and is extremely difficult to recognize in its early stages. Pictured: A mammogram scan (file image)
Claire Turner, Chair of Lobular Breast Cancer UK said: ‘Twenty-two women every day are diagnosed with a form of breast cancer that is very difficult to find with existing imaging systems.
‘Because of the way lobular breast cancer grows and presents, it is very difficult to see on a mammogram. When women are finally diagnosed, the cancer is often in a much later stage.’
She added: ‘Tests that identify a potential genetic risk factor can be useful as they allow it to be monitored and diagnosed much earlier.
‘We would welcome that, because the current imaging system is not suitable for lobular breast cancer.’
The disease starts in the milk-producing glands and is responsible for about 15 percent of diagnosed breast cancer cases.
If diagnosed early, it can be treated successfully. But because tumors grow in a “spider web” pattern rather than forming a lump, they are more difficult to detect with a mammogram, ultrasound, or biopsy.
Symptoms may include an inverted nipple, thickening of the breast tissue, a pulling sensation or a dent in the breast.
BBC presenter Victoria Derbyshire, 55, was diagnosed in 2015 after researching online what caused an inverted nipple.
Diagnosed with stage 2 invasive lobular breast cancer, she underwent mastectomy and reconstruction on the right side, followed by chemotherapy and radiotherapy.
The link between lobular breast cancer and faulty genes was highlighted by Italian academics in a study of more than 5,000 women with lobular breast cancer published last month.
Researchers found that one in 66 women had a pathogenic variant of the CDH1 gene – mainly women who had developed the disease before the age of 45 or who had a family history of breast cancer.
The gene has been linked to some cases of stomach cancer. There are also suggestions that patients at risk of stomach cancer are more likely to develop lobular breast cancer.
However, this study is the first to conclude that there is a clear link between CHD1 and lobular breast cancer. Crucially, a fifth of CDH1 patients who developed the disease had no family history. None of them also carried the cancer-related BRCA gene.
British doctors believe that screening for CDH1 could likely detect cases of lobular breast cancer early, but question whether the NHS has sufficient resources to roll out such a programme.
“In the current circumstances of the NHS it is unlikely to be switched on,” said Vosia Miedzybrodzka, professor of medical genetics at the University of Aberdeen. ‘But as genomic testing becomes more common, this could be one of the genes being looked at.’
One patient who believes she has benefited from genetic screening is Ruth Warden, 56, from West Yorkshire. The mother-of-two is being treated for incurable lobular breast cancer after two separate mammograms failed to detect the disease.
The former NHS administrative worker was eventually diagnosed in 2018 and is undergoing oral chemotherapy. Although Ruth’s condition is stable, the cancer cannot be cured and has spread to her liver, bones and meninges.
“The BRCA gene is known and it is recognized that if you have a family history of breast cancer, you need to be more aware and get tested,” she says.
‘If there is another gene that we need to be aware of that could be a risk factor for lobular breast cancer, then tests should be carried out.
‘If I had gotten tested at 40 when I had my first mammogram, it could have made a big difference. I could have been closely monitored and it could have been caught sooner.”