reveal new genetic risk hot spots for breast cancer
have discovered another 15 genetic hot-spots
that can increase a womans risk of developing
breast cancer, according to research published in Nature
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
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. Its hoped that these
genetic markers can be used to help identify high-risk
women and could lead to improved cancer screening and
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 womans risk. And were 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 womans 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: Were gradually
uncovering breast cancers 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
treatment helps prevent early menopause in breast cancer
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
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
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
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
SWOGs 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
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
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 doctors appointments are no
exception in fact, forgetting is one of the most
commonly cited reasons why women miss breast cancer
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 populations 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 UKs 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 its 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