Breast cancer risk in African-Americans tied to genetic variations
(Press-News.org) Two gene variants found in African American women may explain why they are more likely to be diagnosed with triple negative breast cancer (TNBC) than white women of European ancestry, according to Weill Cornell Medicine and NewYork-Presbyterian investigators. The study findings may have implications for developing better risk assessment tools for TNBC in African American women and for understanding why they have poorer TNBC outcomes.
In a study, published April 29 in Scientific Reports, the investigators found that a version of the ANKLE1 gene that can be protective against TNBC is less likely to be found in African American women than white women of European ancestry. In addition, African American women with a mutation in the Duffy gene, which plays a role in inflammation, have a higher risk of TNBC.
"While more white women are diagnosed with breast cancer, African American women are more likely to die from the disease," said Dr. Melissa B. Davis, who was recruited to Weill Cornell Medicine as an associate professor of cell and developmental biology research in surgery, and is scientific director of the International Center for the Study of Breast Cancer Subtypes (ICSBCS). Moreover, African American women have twice the risk of developing TNBC than white women of European ancestry.
Historically, genetic studies of breast cancer have not included enough information about people of African descent, Dr. Davis said. This lack of data contributes to problems with understanding some of the less common versions of genes, or genetic mutations that are found in populations that are not of European descent.
To help address this problem, Dr. Davis and her research team analyzed genetic information from the ICSBCS cohort. The scientists collected DNA from saliva samples in 120 breast cancer patients from Ghana and Ethiopia. Additional samples were collected from 193 African American and 184 European American women with breast cancer. Dr. Davis's team also collected data from 271 healthy controls in the United States and Ghana. The team then assessed the effect in these patients of different gene versions, known as alleles, that had been previously associated with breast cancer risk.
"We have this African-enriched cohort where we've assessed genetic ancestry, and this includes patients and case controls of African ancestry, which is unlike any other study," said Dr. Davis, acknowledging the work of her research partners in Ghana and Ethiopia over the last 17 years, as part of the ICSBCS. The center was founded by co-author Dr. Lisa Newman, chief of the Section of Breast Surgery at Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center, who was recruited to Weill Cornell Medicine as a professor of surgery.
The researchers found two risk alleles previously defined by the African American Breast Cancer Epidemiology and Risk (AMBER) Consortium were replicated in the ICSBCS study group of patients. Dr. Davis's team validated that an ANKLE1 variant is protective against TNBC but that African American women are more likely to have a version that may be oncogenic, or cancer causing.
ANKLE1 has not been thoroughly studied in cancer yet. "Part of the reason would be that it's under the radar," Dr. Davis said. "It's a risk allele that was only identified when looking at African-Americans and Africans."
ANKLE1 appears to have DNA repair properties like the BRCA gene. BRCA has enzymatic activity that helps to correct mistakes in DNA leading to cancer. Mutations in the gene increase breast cancer risk and physicians often recommend screening for mutations in BRCA in the Ashkenazi Jewish population in which it appears at higher rates. The researchers' current findings on ANKLE1 should inform breast cancer risk models in African American women, Dr. Davis said.
The researchers also verified that a mutation in the Duffy gene, known for its role in inflammation and tumor biology, was associated with an increased risk of TNBC in African American women. The mutation causes the gene to lose function and is what researchers call a null allele. "I would like women to be more informed about their Duffy-null status," Dr. Davis. "If you have that status, you have a higher likelihood of developing triple negative breast cancer, if you get breast cancer," she said.
A better genetic understanding of breast cancer in African American women can help to inform treatment. "Genetic signature tests can predict whether or not patients have a high risk of recurrence or high risk of having a refractory tumor," Dr. Davis said. "Doctors can then determine whether the current standard of care is going to be effective or if they need to adjust the treatment plan for better outcomes."
ELSE PRESS RELEASES FROM THIS DATE:
Inside each proton or neutron there are three quarks bound by gluons. Until now, it has often been assumed that two of them form a "stable" pair known as a diquark. It seems, however, that it's the end of the road for the diquarks in physics. This is one of the conclusions of the new model of proton-proton or proton-nucleus collisions, which takes into account the interactions of gluons with the sea of virtual quarks and antiquarks.
In physics, the emergence of a new theoretical model often augurs badly for old concepts. This is also the case with the description of collisions of protons with protons or atomic nuclei, proposed by scientists from the Institute of Nuclear Physics of the Polish Academy of Sciences (IFJ PAN) ...
Organic residues on ceramic pottery are a valuable resource for understanding medieval cuisines of Islamic-ruled Sicily, according to a study published June 9, 2021 in the open-access journal PLOS ONE by Jasmine Lundy of the University of York, UK and colleagues.
During the 9th to 12th century AD, Sicily was under Islamic rule. This transition is known to have profoundly impacted the region, and the capital city of Palermo thrived as an economic and cultural center of the Mediterranean Islamic world. But little is known about how the lives of people in the region were impacted during this important time period.
In this study, researchers examined organic residues of plant and animal products on ceramic pottery to gain insights ...
Today, solar energy provides 2% of U.S. power. However, by 2050, renewables are predicted to be the most used energy source (surpassing petroleum and other liquids, natural gas, and coal) and solar will overtake wind as the leading source of renewable power. To reach that point, and to make solar power more affordable, solar technologies still require a number of breakthroughs. One is the ability to more efficiently transform photons of light from the Sun into useable energy.Organic photovoltaics max out at 15% to 20% efficiency -- substantial, but a limit on solar energy's potential. Lehigh University engineer Ganesh Balasubramanian, like many others, wondered if there were ways to improve the design of solar cells to make them more ...
GRAND RAPIDS, Mich. (JUNE 8, 2021) -- Chronic inflammation in the gut may propel processes in the body that give rise to Parkinson's disease, according to a study by scientists at Van Andel Institute and Roche.
The study, published in Free Neuropathology, is the latest in a growing list that links the gut and the immune system to Parkinson's. The researchers' findings in an experimental mouse model of gut inflammation track with several large-scale epidemiological studies that show an association between Parkinson's and inflammatory bowel diseases, such as ulcerative colitis and Crohn's disease.
Epidemiological evidence from other groups indicates the risk of developing Parkinson's fades in certain people whose ...
Small pieces of plastic are everywhere, stretching from urban environments to pristine wilderness. Left to their own devices, it can take hundreds of years for them to degrade completely. Catalysts activated by sunlight could speed up the process, but getting these compounds to interact with microplastics is difficult. In a proof-of-concept study, researchers reporting in ACS Applied Materials & Interfaces developed self-propelled microrobots that can swim, attach to plastics and break them down.
While plastic products are omnipresent indoors, plastic waste and broken bits now litter the outdoors, too. The smallest of these ...
TORONTO, June 9, 2021 - Researchers from York University and the University of British Columbia have found social media use to be one of the factors related to the spread of COVID-19 within dozens of countries during the early stages of the pandemic.
The researchers say this finding resembles other examples of social media misinformation ranging from the initial phase of vaccine rollout to the 2021 Capitol riot in the United States.
Countries with high social media use leading to off-line political action prior to the pandemic, as surveyed before the pandemic by V-Dem (a database from the University of Gothenburg), showed ...
Skoltech researchers and their colleagues from RAS Institute for Physics of Microstructures, Lobachevsky State University of Nizhny Novgorod, ITMO University, Lomonosov Moscow State University, and A.M. Prokhorov General Physics Institute have found a way to increase photoluminescence in silicon, the notoriously poor emitter and absorber of photons at the heart of all modern electronics. This discovery may pave the way to photonic integrated circuits, boosting their performance. The paper was published in the journal Laser and Photonics Reviews.
"Natural selection" in semiconductor technology ...
Vertebrate life began in the water, but around 340-360 million years ago, four-limbed creatures, or tetrapods, made the transition onto land. In the years that followed, some species adapted to terrestrial life, while others turned back to the water and readapted to an aquatic lifestyle.
A new study of these early amphibians, published in the journal PLOS ONE and led by Penn paleontologist Aja Carter, suggests that these environmental shifts left an impression--on the shape of the animals' spines.
"I'm interested in how the shapes of the vertebrae affect how animals move," she says. "Our findings suggest that, in at least one part of the vertebrae, the shape of the bones ...
WEST LAFAYETTE, Ind. - Purdue University engineers have developed a method to transform existing cloth items into battery-free wearables resistant to laundry. These smart clothes are powered wirelessly through a flexible, silk-based coil sewn on the textile.
In the near future, all your clothes will become smart. These smart cloths will outperform conventional passive garments, thanks to their miniaturized electronic circuits and sensors, which will allow you to seamlessly communicate with your phone, computer, car and other machines. This smart clothing will not only make you more productive but also check on your health status and even call for help if you suffer an accident. The reason why this smart clothing ...
As many as 450,000 Americans die every year from a sudden, fatal heart condition, and in slightly more than one in ten cases the cause remains unexplained even after an autopsy. Researchers from the University of Maryland School of Medicine (UMSOM) and their colleagues found that nearly 20 percent of patients with unexplained sudden cardiac death - most of whom were under age 50 - carried rare genetic variants. These variants likely raised their risk of sudden cardiac death. In some cases, their deaths may have been prevented if their doctors had known about their genetic predisposition to heart disease. The study findings were published ...
LAST 30 PRESS RELEASES:
[Press-News.org] Breast cancer risk in African-Americans tied to genetic variations