Women’s Health



Researchers reveal new genetic risk hot spots for breast cancer

 

Scientists have discovered another 15 genetic ‘hot-spots’ that can increase a woman’s risk of developing breast cancer, according to research published in Nature Genetics.

In a study funded by Cancer Research UK, scientists compared tiny variations in the genetic make-up of more than 120,000 women of European ancestry, with and without breast cancer, and identified 15 new variations – called single nucleotide polymorphisms (SNPs) – that are linked to a higher risk of the disease.

This new discovery means that a total of more than 90 SNPs associated with breast cancer have now been revealed through research.

On average, one in every eight women in the UK will develop breast cancer at some stage in their lives. The researchers estimate that about five per cent of women have enough genetic variations to double their risk of developing breast cancer – giving them a risk of approximately one in four. A much smaller group of women, around 0.7%, have genetic variations that make them three times more likely to develop breast cancer, giving them a risk of around one in three. It’s hoped that these genetic markers can be used to help identify high-risk women and could lead to improved cancer screening and prevention.

Study author Professor Doug Easton, professor of genetic epidemiology at the University of Cambridge, said: “Our study is another step towards untangling the breast cancer puzzle. As well as giving us more information about how and why a higher breast cancer risk can be inherited, the genetic markers we found can help us to target screening and cancer prevention measures at those women who need them the most.

“The next bit of solving the puzz le involves research to understand more about how genetic variations work to increase a woman’s risk. And we’re sure there are more of these variations still to be discovered.” The study was carried out by dozens of scientists across the world working together in the Breast Cancer Association Consortium part of the Collaborative Oncological Gene-environment Study. Each of the genetic variations, identified through this study and other research, is known to raise a woman’s risk of breast cancer by a small amount – but some people have lots of these variations which add up to a more significantly increased risk.

Breast cancer is the most common type of cancer in the UK, with almost 50,000 women diagnosed every year. Death rates are falling as we learn more about the disease and how to diagnose and treat it, and around 78% of people now live for at least 10 years after diagnosis.

Nell Barrie, senior science communications manager at Cancer Research UK, said: “We’re gradually uncovering breast cancer’s secrets at a genetic level and learning how best to tackle this disease which still claims far too many lives. This latest study adds more detail to our genetic map of breast cancer risk and could help to develop new ways to identify women most at risk so we can spot breast cancer earlier in the future.”

New treatment helps prevent early menopause in breast cancer patients

Early menopause can be prevented and fertility may be preserved in young women with early stage breast cancer, according to a study published in March in The New England Journal of Medicine.

A major international clinical trial has found that the risk of sudden onset of menopause can be significantly reduced by adding a drug called goserelin to the chemotherapy regimen. Women who took goserelin and wanted to have children also were more likely to get pregnant and deliver a healthy baby.

“Some of the most distressing side-effects of chemotherapy in young women with breast cancer are early and sudden onset of menopause and infertility,” said Kathy Albain, MD, senior author, medical oncologist and director of the Breast Cancer Clinical Research Program at Loyola University Chicago Cardinal Bernardin Cancer. “These findings provide hope for young women with breast cancer who would like to prevent early menopause or still have children.”

The overall purpose of goserelin is to temporarily put the ovaries “at rest” during chemotherapy. “We found that, in addition to reducing the risk of sudden, early menopause, and all of the symptoms that go along with menopause, goserelin was very safe and may even improve survival,” Dr Albain said. “These findings are changing how we manage young women with breast cancer.”

The Phase 3 multicentre trial included premenopausal women younger than 50 who had certain types of early-stage breast cancer (oestrogen and progesterone-receptor negative). For this study, 257 patients were randomly assigned to receive standard chemotherapy or chemotherapy plus goserelin.

After two years, 22% of women receiving standard chemotherapy had stopped menstruating or had elevated levels of a hormone known as FSH, an indication of reduced oestrogen production and egg supply. By comparison, only eight percent of the women receiving goserelin had stopped menstruating or had elevated FSH. The pregnancy rate was nearly twice as high in the goserelin group (21% vs. 11%).

After four years, 78% of those receiving standard chemotherapy showed no signs or symptoms of cancer compared with 89% of patients who received goserelin. Overall survival at four years was 82% in the standard chemotherapy group and 92% in the goserelin group. Goserelin (trade name, Zoladex®) is similar to a natural hormone made by the body.

It is FDA-approved for the treatment of prostate cancer, certain benign gynaecological disorders and certain breast cancers. Goserelin is administered by injection. In the clinical trial, women assigned to the goserelin group received one shot once every four weeks during the course of their chemotherapy regimen. Side-effects of goserelin were uncommon and mostly included more symptoms related to reducing the activity of the ovaries during chemotherapy.

About 25% of breast cancers occur in women younger than 50. Breast cancer chemotherapy can trigger early menopause in women in their 20s, 30s and 40s. After completing chemotherapy, some women resume menstruating and are able to have children should they choose to do so. But for many women following chemotherapy, menopause is permanent.

Chemotherapy-induced menopause tends to come on suddenly, and consequently, symptoms are much more intense. These symptoms include irregular periods and then cessation of periods completely, vaginal dryness, hot flashes, night sweats, sleep problems, mood changes, weight gain, thinning hair, dry skin and loss of breast fullness. “Early menopause in younger breast cancer patients can be very debilitating,” Dr Albain said.

The clinical trial is named “Prevention of Early Menopause Study (POEMS) S0230.” It is sponsored by SWOG national cancer research co-operative along with SWOG’s collaborating groups, including the International Breast Cancer Study Group, Eastern Co-operative Oncology Group and the Alliance for Clinical Trials in Oncology. First author is Halle C.F. Moore, MD, of the Cleveland Clinic. The study was funded in part by the National Cancer Institute. Dr Albain led the design, development and conduct of this study as its senior author.

Text message reminders boost breast cancer

Women who received a text message reminding them about their breast cancer screening appointment were 20% more likely to attend than those who were not texted, according to a study published in the British Journal of Cancer.

Researchers, funded by the Imperial College Healthcare Charity, trialled text message reminders for women aged 47-53 years old who were invited for their first appointment for breast cancer screening.

The team compared around 450 women who were sent a text with 435 women who were not texted. It found that 72% of women who were sent a text message reminder attended their screening appointment, compared with 60% who were not. Text message reminders had the biggest impact on women from the most deprived areas who were 28% more likely to attend their first screening appointment if they were sent a text.

The research found that women were almost three times more likely to cancel their appointment in advance if they were sent a text message reminder. Lead author, Robert Kerrison, at the Cancer Research UK Health Behaviour Unit at UCL said: “We all forget things now and then, and doctor’s appointments are no exception – in fact, forgetting is one of the most commonly cited reasons why women miss breast cancer screening appointments.

“Our research found that a cheap, simple text-message-reminder could boost the number of women – especially those from deprived areas – attending screening, or cancelling in advance. More trials are needed to confirm this, but texting could save valuable NHS resources.”

Ian Lush, chief executive of Imperial College Healthcare Charity, said: “The potential positive impact the study could have on the UK population’s health is huge and goes far beyond the borders of London where the text message service was originally trialled. Research outcomes like this confirm the need for the charity to continue funding such pioneering work which will continue to help improve the health of the population.”

Dr Julie Sharp, Cancer Research UK’s head of health information, said: “Research like this can help tackle practical barriers that sometimes stop women from attending screening appointments. Cancer screening can save lives, but it’s important to remember there are risks as well as benefits. People should also receive good quality information to help them decide whether to take up a screening invitation.”

 Date of upload: 10th May 2015

 

                                  
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