PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Negative BRCA testing may not always imply lowered breast cancer risk

2013-11-27
(Press-News.org) Contact information: Jeremy Moore
jeremy.moore@aacr.org
215-446-7109
American Association for Cancer Research
Negative BRCA testing may not always imply lowered breast cancer risk PHILADELPHIA — Women who are members of families with BRCA2 mutations but who test negative for the family-specific BRCA2 mutations are still at greater risk for developing breast cancer compared with women in the general population, according to a study published in Cancer Epidemiology, Biomarkers & Prevention, a journal of the American Association for Cancer Research.

Women with certain mutations in their BRCA1 or BRCA2 genes are at increased risk for breast cancer. However, if a woman who comes from a BRCA family tests negative for her family-specific BRCA mutation, her risk for breast cancer is considered to be the same as someone in the general population, according to the National Cancer Institute. This study, however, suggests that it may not always be true.

"We found that women who test negative for family-specific BRCA2 mutations have more than four times the risk for developing breast cancer than the general population," said Gareth R. Evans, M.B.B.S., M.D., M.R.C.P., F.R.C.P., honorary professor of medical genetics and cancer epidemiology at the Manchester Academic Health Science Center at the University of Manchester in the United Kingdom. "We also found that any increased risk for breast cancer is largely limited to BRCA2 families with strong family history and other genetic factors.

"It is likely that these women inherit genetic factors other than BRCA-related genes that increase their breast cancer risk," he explained. "About 77 single nucleotide polymorphisms [SNPs—genetic variations that can help track the inheritance of disease genes within families] are linked to breast cancer risk. Identification of additional SNPs is necessary to understand why some of the BRCA-negative women from BRCA families are at higher risk."

The authors note that specialists should use caution when stating that a woman's breast cancer risk is the same as that of the general population following a negative test, because it may not be true for some women who come from BRCA2 families with a strong family history.

Evans and colleagues used data from the M6-Inherited Cancer in England study, which has screened families of individuals with breast and/or ovarian cancer for mutations in BRCA1 and 2 since 1996. Details on affected individuals, and all tested and untested relatives, were entered into a Filemaker Pro-7 database. From 807 BRCA families, the researchers identified 49 women who tested negative for the family-specific BRCA mutation, but subsequently developed breast cancer. The researchers called these women "phenocopies."

Of the 49 phenocopies identified, 22 were among 279 women who tested negative from BRCA1 families, and 27 were among 251 women who tested negative from BRCA2 families. When the researchers stratified the phenocopies based on their age (30-39, 40-49, 50-59, and 69-80), they found that in each age range there were about twice as many cases of breast cancer as would have been expected from the general population.

Next, to conduct risk analyses, Evans and colleagues calculated the "observed versus expected ratio" (O/E), a ratio of observed risk for breast cancer in BRCA-negative women from BRCA families, versus the risk expected for any woman in the general population.

They found the O/E for phenocopies from BRCA1 families was not substantially higher than that of the general population; however, the O/E for phenocopies from BRCA2 families was 4.57, leading them to conclude that the more than fourfold increased risk for breast cancer among BRCA-negative women is largely limited to BRCA-negative women from BRCA2 families.

When the researchers considered the date of predictive testing (the date on which BRCA testing was done for an individual) instead of the date of family ascertainment (the date the first family member of the individual was referred to genetic service), O/E dropped from 4.57 to 2.01, "because there is less follow-up in the predictive test group from time of testing and we may be unaware of breast cancers that have occurred in the near past," explained Evans.

### To interview Gareth Evans, please contact Peppermint Soda at jess.gorton@peppermintsoda.co.uk or 0161-941-4252. For all other inquiries, please contact Jeremy Moore at jeremy.moore@aacr.org or 215-446-7109.

This study was funded by the National Institute for Health Research. The authors declare no conflict of interest.

Follow the AACR on Twitter: @AACR Follow the AACR on Facebook: http://www.facebook.com/aacr.org

About the American Association for Cancer Research Founded in 1907, the American Association for Cancer Research (AACR) is the world's oldest and largest professional organization dedicated to advancing cancer research and its mission to prevent and cure cancer. AACR membership includes more than 34,000 laboratory, translational, and clinical researchers; population scientists; other health care professionals; and cancer advocates residing in more than 90 countries. The AACR marshals the full spectrum of expertise of the cancer community to accelerate progress in the prevention, biology, diagnosis, and treatment of cancer by annually convening more than 20 conferences and educational workshops, the largest of which is the AACR Annual Meeting with more than 18,000 attendees. In addition, the AACR publishes eight peer-reviewed scientific journals and a magazine for cancer survivors, patients, and their caregivers. The AACR funds meritorious research directly as well as in cooperation with numerous cancer organizations. As the scientific partner of Stand Up To Cancer, the AACR provides expert peer review, grants administration, and scientific oversight of team science and individual grants in cancer research that have the potential for near-term patient benefit. The AACR actively communicates with legislators and policymakers about the value of cancer research and related biomedical science in saving lives from cancer. For more information about the AACR, visit http://www.AACR.org.


ELSE PRESS RELEASES FROM THIS DATE:

2-way traffic enables proteins to get where needed, avoid disease

2013-11-26
2-way traffic enables proteins to get where needed, avoid disease Augusta, Ga. - It turns out that your messenger RNA may catch more than one ride to get where it's going. Scientists have found that mRNA may travel one way down a cell, ...

When the living and the deceased don't agree on organ donation

2013-11-26
When the living and the deceased don't agree on organ donation All 50 states and the District of Columbia have adopted the 2006 Revised Uniform Anatomical Gift Act (UAGA) or enacted similar legislation giving individuals the "First Person Authorization" ...

Lowering stand density reduces mortality of ponderosa pine stands

2013-11-26
Lowering stand density reduces mortality of ponderosa pine stands REDDING, Calif.—As trees grow larger in even-aged stands, competition develops among them. Competition weakens trees, as they contend for soil moisture, ...

Electronic cigarettes: New route to smoking addiction for adolescents

2013-11-26
Electronic cigarettes: New route to smoking addiction for adolescents E-cigarettes have been widely promoted as a way for people to quit smoking conventional cigarettes. Now, in the first study of its kind, UC San Francisco researchers ...

Unhappy meals? Majority of very young children in California eat fast food at least once a week

2013-11-26
Unhappy meals? Majority of very young children in California eat fast food at least once a week A surprisingly large percentage of very young children in California, including 70 percent of Latino children, eat fast food regularly, according to ...

Polymer gel, heal thyself: University of Pittsburgh engineering team proposes new composites that can regenerate when damaged

2013-11-26
Polymer gel, heal thyself: University of Pittsburgh engineering team proposes new composites that can regenerate when damaged PITTSBURGH (November 25, 2013) … When a chair leg breaks or a cell phone shatters, either must be repaired or replaced. But what if these materials ...

Large study shows pollution impact on coral reefs -- and offers solution

2013-11-26
Large study shows pollution impact on coral reefs -- and offers solution CORVALLIS, Ore. – One of the largest and longest experiments ever done to test the impact of nutrient loading on coral reefs today confirmed what scientists have long ...

ADHD linked to social and economic disadvantage

2013-11-26
ADHD linked to social and economic disadvantage Scientists have found evidence of a link between social and economic status and childhood attention deficit disorder in the UK Scientists have found evidence of a link between social and economic status and ...

Implantable slimming aid

2013-11-26
Implantable slimming aid Gene network regulates blood-fat levels Humankind has a weight problem – and not only in the industrialised nations, either: the growing prosperity in many Asian or Latin American countries goes hand in hand with a way of life that ...

Seahorse heads have a 'no wake zone' that's made for catching prey

2013-11-26
Seahorse heads have a 'no wake zone' that's made for catching prey

LAST 30 PRESS RELEASES:

Noise pollution is affecting birds' reproduction, stress levels and more. The good news is we can fix it.

Researchers identify cleaner ways to burn biomass using new environmental impact metric

Avian malaria widespread across Hawaiʻi bird communities, new UH study finds

New study improves accuracy in tracking ammonia pollution sources

Scientists turn agricultural waste into powerful material that removes excess nutrients from water

Tracking whether California’s criminal courts deliver racial justice

Aerobic exercise may be most effective for relieving depression/anxiety symptoms

School restrictive smartphone policies may save a small amount of money by reducing staff costs

UCLA report reveals a significant global palliative care gap among children

The psychology of self-driving cars: Why the technology doesn’t suit human brains

Scientists discover new DNA-binding proteins from extreme environments that could improve disease diagnosis

Rapid response launched to tackle new yellow rust strains threatening UK wheat

How many times will we fall passionately in love? New Kinsey Institute study offers first-ever answer

Bridging eye disease care with addiction services

Study finds declining perception of safety of COVID-19, flu, and MMR vaccines

The genetics of anxiety: Landmark study highlights risk and resilience

How UCLA scientists helped reimagine a forgotten battery design from Thomas Edison

Dementia Care Aware collaborates with the Institute for Healthcare Improvement to advance age-friendly health systems

Growth of spreading pancreatic cancer fueled by 'under-appreciated' epigenetic changes

Lehigh University professor Israel E. Wachs elected to National Academy of Engineering

Brain stimulation can nudge people to behave less selfishly

Shorter treatment regimens are safe options for preventing active tuberculosis

How food shortages reprogram the immune system’s response to infection

The wild physics that keeps your body’s electrical system flowing smoothly

From lab bench to bedside – research in mice leads to answers for undiagnosed human neurodevelopmental conditions

More banks mean higher costs for borrowers

Mohebbi, Manic, & Aslani receive funding for study of scalable AI-driven cybersecurity for small & medium critical manufacturing

Media coverage of Asian American Olympians functioned as 'loyalty test'

University of South Alabama Research named Top 10 Scientific Breakthroughs of 2025

Genotype-specific response to 144-week entecavir therapy for HBeAg-positive chronic hepatitis B with a particular focus on histological improvement

[Press-News.org] Negative BRCA testing may not always imply lowered breast cancer risk