Worried About Breast, Ovarian Cancer? Genetic Testing Could Help

India accounts for the third highest number of breast cancer and second highest number of ovarian cancer cases among women, globally. Also, three times more cases of familial breast and ovarian cancers are recorded in India, as compared to western countries. It is projected that cancer incidence in Indian women will increase to 190-200 cases per lakh by 2025. Mortality to incidence ratio is worst in India for breast and ovarian cancers with one in every 28 women likely to develop it during her lifetime and one in every two women diagnosed with it, succumbing to it.

Harmful mutations (multiple changes in DNA sequence) in BRCA1 and BRCA2 genes are known to be associated with high risk of developing hereditary breast and ovarian cancer (HBOC) syndrome (Table 1).
 
About 20-25 percent of breast cancer cases are attributed to mutations in BRCA1 and BRCA2 genes. There is also an increased risk of developing cancer in other breast and/or ovarian cancer, after the first onset of breast cancer, in women who carry mutated BRCA1 or BRCA2 genes.

The harmful germline mutations in other genes such as TP53, CHEK2, STK11, BARD1, ATM, BRIP1, CDH1, PALB2, RAD51C, RAD51D, RAD50, NBS1, PTEN accounts for about 10 percent of familial breast and ovarian cancer cases.

Next Generation Sequencing based genetic test is a blood test that uses technique to analyse genomic DNA for detecting mutations in the multiple genes in a single assay. This is a  highly sensitive and robust sequencing method that generates more reliable results. It is a comprehensive assay covering single nucleotide variations (SNVs) and short insertions and deletions (InDels) and a cost-effective alternative to other available techniques with a shorter turnaround time.

BRCA1 and BRCA2 genetic test helps to identify the hereditary risk (presence of personal or family history) accurately and also helps to recognise the disease prognostication (impact on overall survival rate of breast cancer patients) and adds theragnostic value (deciding the best drug treatment). One of the most important utilities of the test is to improve early detection by 1.5 to 2.5 times and, therefore, increase the overall survival and reduce the cost of treatment.

Who Should Get Tested?

Genes are inherited, therefore, knowing your family history is significant when determining breast cancer risks. If either of your parents has a BRCA1 or BRCA2 mutation, you have a 50 percent chance of inheriting the mutated gene. One should consider gene testing if any one of the following conditions are predominant:

• A personal history of breast or ovarian cancer diagnosed at young age (pre-menopausal), bilateral breast cancer (affecting both breasts) or presence of both ovarian and breast cancer
• A family history of breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer
• A male family member having breast cancer
• A relative with a known deleterious mutation in BRCA1 or BRCA2 genes
• A history of breast cancer diagnosed below the age of 45 years
• A family member with bilateral breast cancer below the age of 50
• An individual with triple negative breast cancer below the age of 60 years with or without family history
• Two or more relatives with ovarian cancer
• Both breast and ovarian cancers in either the same woman or the same family
• Ashkenazi Jewish ethnicity

BRCA1 and BRCA2 gene test has different implications on asymptomatic individuals and newly diagnosed patients.

i) A positive test result in an asymptomatic individual would help in disease prevention, early detection and better management of the disease by increased surveillance, using risk reducing chemoprevention and/or surgical interventions. Bilateral total mastectomy and oophorectomy may also reduce the risk of breast cancer and ovarian cancer in mutation carriers.

ii) A negative test result means there is no mutation in BRCA1 and BRCA2 genes. A person with negative test result holds same risk of developing breast cancer as someone in the general population.
iii) An ambiguous result occurs when a genetic test finds a change in BRCA1 or BRCA2 that has not been reported to be directly associated with breast cancer till date. This type of test result may be described as “a genetic variant of uncertain significance” because it is not known whether this specific genetic change is harmful. A study in Asian women found that 7.8 percent of women who underwent BRCA1 and BRCA2 mutation testing had this type of ambiguous result.

In newly diagnosed patients with breast or ovarian cancer, gene test results help to guide disease management and drug treatment decisions.

Genetic counseling is highly recommended before undergoing genetic test (pre-test counseling) and after the results are disclosed (post-test counseling). Genetic counselor can help decide whether genetic testing is needed based on the personal and family history and various other risk factors. If genetic testing is indicated, it should occur early in the cancer trajectory as patients who carry a mutation may receive more aggressive treatment.

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12 Scientific Breakthroughs and New Inventions In 2018

The whole of science is nothing more than a refinement of everyday thinking," Albert Einstein once said. Indeed, just like the human mind and continuous thinking, science, too, doesn’t stop for a moment, and various scientific discoveries continue to be made every year. In 2018, too, many scientists and researchers worked hard to reveal new discoveries in a variety of fields, from innovative solutions and treatments to common and deadly diseases to archaeological discoveries, space discoveries, and unusual scandals; You are invited to hear and learn about 12 groundbreaking scientific discoveries that have taken place this year which can certainly affect our lives in the near future.

1. Sickle cell anemia can be cured through stem cell transplants

Sickle cell anemia is a severe and common blood disease which more than 4 million people worldwide are afflicted by. In April, a pair of scientists announced that they had completely cured a 26-year-old man with sickle cell anemia and its complications, through the transplantation of healthy stem cells in the body, and hope and believe that similar results will also occur in future patients who receive similar treatment using stem cells.

2. Scientists have been able to stop and reverse the process of aging in mice

Aging is a natural process in every living creature on earth, including humans - but will it soon be possible to stop it? According to a new study published in March 2018, a team of researchers  found a way to stop and even reverse the aging process in mice. The process is based on a molecule called NAD, which is found naturally in mammals, but its level has dwindled over the years, a process that causes the development of age-related diseases. By increasing the NAD level in older mice with dietary supplements, the cells in their bodies returned to their youth and their general health improved. If the results are the same in humans as the researchers hope, it may indicate that in a few years' time, nutritional supplements will be able to stop aging in a scientifically proven way and to prevent diseases such as Alzheimer's and cancer.

3. A new organ was discovered in our bodies

If we thought we knew every organ in our bodies, 2018 came with a refreshing discovery of a new organ - the interstitium; A group of scientists  found that this organ, once considered a dense layer of tissue, is actually a narrow channel used to transport lymphatic fluid.

4. Scientists were able to recover the vision of two people who suffered macular degeneration

Macular degeneration is a severe eye disease that develops over the years and is considered the number one cause of blindness around the world. In 2018 there was a breakthrough in the prevention and treatment of the disease when scientists were able to restore the vision of two people who had macular degeneration to a level where they could not read at all. The treatment was done by implanting stem cells over the damaged parts of the eye, after which both patients were able to recognize faces and read. These results, of course, are encouraging both for researchers and for patients with the disease, and if the trials continue to produce success, this treatment may soon be as common and achievable as cataract surgery.

5. A tiny robot is capable of detecting and killing cancer cells

Nanorobotics is a technological field that has been developing very well in recent years and deals with assembling and manufacturing miniature robots that don’t exceed minuscule nanometers. In 2018, a group of researchers in the field succeeded in designing nanoparticles that would be able to find and destroy cancerous cells in the human body. These novel nanobots, first tested on mice injected with cancer cells, were able to locate the diseased cells in the living body and cut blood flow to them - causing them to wither and die; At the same time, no harm was caused to other healthy cells in the mice’s body. These results certainly raise the level of optimism and indicate that nanobots may be used as a solution to the fatal disease.

6. A particular chemical, also added to McDonald's fries, can help in regrowth of hair follicles

The world's largest fast food chain, McDonald's, has been at the heart of public criticism for years, with many claiming that the food served in its branches around the world is unhealthy. But now it turns out that McDonald's uses at least one ingredient that has a certain cosmetic benefit: the company's fries are fried in oil and the chemical Polydimethylsiloxane, which was discovered this year by researchers, to have the potential to create masses of hair follicles, encouraging increased hair growth. The scientists planted hair follicles that grew by adding the chemical to the back of a mouse, and new hair had already sprouted and grew shortly thereafter. However, don’t rush to your nearest McDonald's - because it turns out that adding the chemical to oil and cooking with it does not produce the same effect.

7. Scientists have been able to erase Alzheimer's damage in a human brain cell

Loss of memory abilities and severe difficulties in orientation are just some of the severe symptoms of Alzheimer's disease, which affects many - especially the elderly - and is manifested in the continuous degeneration of nerve cells in the brain. For years, science has been looking for a solution to this problem, and this year it seems that a breakthrough has been made when scientists  have found a method to help change the structure of the protein in a particular gene in our body that encourages the brain response that causes Alzheimer's. With this change, scientists were able to completely eliminate any evidence of Alzheimer's in the damaged brain cells, and the subjects became healthier and lived longer. This promising discovery still doesn’t suggest that a drug or prophylaxis for Alzheimer's is going to be immediately available to us, but it is certainly a good direction to be headed in for the future.

8. Archaeologists have uncovered evidence that thriving communities lived in the most isolated regions of the Amazon

Historians and archaeologists have long believed that developed civilizations from the past have survived and thrived over the years because of their proximity to rivers or other water sources that made life possible. But now some of this assumption may change because, in March, archaeologists found the remains of whole villages, canals, and man-made pits, and pottery in areas of the Amazonas which experts believed were never inhabited. Archaeologists have not yet been able to analyze what life in these villages looked like, but it is clear that there were thriving communities that managed to grow many crops thanks to the fertile soil.

9. Major developments in a contraceptive pill for men

To this day, most forms of ingested contraceptives were made for women, but now there is also a new development in this field, namely, male birth control that will allow men to have sex without getting their partner pregnant. These pills include a combination of hormones that prevent the production of fertile sperm and is taken once a day. In addition to a blood test that has proven that the pill works effectively, a number of patients who’ve taken the pill also indicated that their side effects were very limited. However, at this stage taking the pill can cause minor cholesterol disorders, so it seems that it will take some more scientific work and research until it can be produced and marketed.

10. A source of liquid water was discovered on Mars

For years, scientists have been trying to find evidence that there is water on Mars - suggesting that life is possible. While the topography of the red star and the underground ice reservoirs indicate that the place was watery in the distant past, scientists have not been able to confirm the claim, but since April this has also changed. The Italian space agency has announced that an advanced radar it is operating has discovered a liquid water lake under the glacier at a depth of 1 km under the ground and 20 km wide, which is certainly encouraging among space explorers and those who hope that humans will one day be able to settle on Mars.

11. The government approved the use of a home-based gene test kit to detect breast and ovarian cancer

Both breast and ovarian cancers are considered to be two particularly deadly cancers among women. Early detection of cancerous tumors can save lives, so genetic testing that helps determine the risk of developing this disease can be a very important thing. This is an expensive test that usually isn’t covered by medical insurance, but now things are changing - since in March this year the government announced the approval of a new home test that could identify the risk level for 3 genetic mutations that cause these two types of cancer. This means that soon, these tests will probably be distributed outside the US and that their prices will be significantly reduced and accessible to every woman, without the need for a doctor's approval.

12. Scientists in China have managed to clone a monkey

While the world of science has previously succeeded in cloning sheep, pigs, mice, dogs, cats and cows, the cloning of primates - the mammalian series of more than 200 species of monkeys and apes - has been a historic challenge for scientists which they’ve not yet managed to meet. But that too changed in January 2018 when a group of researchers, announced the successful cloning of two monkeys, named Zonghong and Wahwa. For cloning the monkeys, the scientists used the same method that was used when cloning Dolly the sheep in 1996, and they hope that this cloning of primates will be used in the future to study human diseases and their solution.

 

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'Spare Tire' Increases Cancer Risk More Than High BMI and Fat Percentage

More than overweight alone, central obesity — defined as  high ratio of trunk fat to peripheral fat — places postmenopausal women at a higher risk for cancer diagnosis, according to a study.

"The findings put a new spin on weight management priorities for women in this age group, who are prone to abdominal weight gain," said study investigator.

In assessing cancer risk, body mass index (BMI) and fat percentage may not be adequate measures because they fail to assess the distribution of fat mass, she explained. "Fat is not just fat, but where in your body it is stored is significant," she added.

"Our study shows that avoiding central obesity may confer the best protection," she said.

The Danish Study and Results

The Prospective Epidemiologic Risk Factor study was an observational, prospective cohort study designed to improve understanding of age-related diseases in postmenopausal women. From 1999 to 2001, 5855 women (mean age, 71 years) were enrolled. Investigators accessed medical and demographic background information. Dual-energy x-ray absorptiometry (DXA) was performed at time of enrollment. DXA scans are the most accurate way to measure bone mass, bone-free lean mass, and fat mass, the authors note.

Data were sub-grouped into three different categories: breast/ovarian cancer, lung/gastrointestinal cancer, and other cancers. Cox proportional hazard regression models were used to examine the association between body fat distribution and the risk for cancer incidence, adjusted for standard risk factors, including BMI.
  
Cancer diagnoses and information on death causes were obtained from different registries up to 2012. Mean follow-up was 12 years.

Using information from national cancer registries, the study investigators reported 811 solid cancers in the women and showed that central obesity was a significant independent predictor of cancer diagnosis up to 12 years after baseline (hazard ratio [HR], 1.30; 95% confidence interval [CI], 1.11 to 1.52; P < .001). Surprisingly, researcher noted, neither BMI nor fat percentage posed a significant risk for cancer diagnoses.

Specifically, there were 293 breast and ovarian cancers, 345 lung and gastrointestinal cancers, and 173 other cancers. Among these cancer groups, central obesity was a risk for only lung and gastrointestinal cancer diagnoses (HR, 1.42; P < .01).

Researcher was also surprised that central obesity was not an independent risk factor for breast and ovarian cancer diagnoses.

Looking in detail at specific cancers and risk factors, the investigators determined that only lung and gastrointestinal cancers were associated with central obesity (for lung cancer: HR, 1.68 [95% CI, 1.12 - 2.53; P < .05]; for gastrointestinal cancer: HR, 1.34 [95% CI, 1 to 1.8; P < .05]).
 
Additional cancer risk factors were older age, receipt of hormone replacement therapy, and smoking, but after adjustment for these risk factors, fat ratio remained an independent risk factor, the study authors reported.

"The average elderly women can very much use this information, as it is known that the menopause transition initiates a shift in body fat towards the central trunk area. Therefore, elderly women should be especially aware of their lifestyle when they approach the pre-menopause age," researcher said.

"Clinicians can additionally use the information for a preventive conversation with women who are in higher risk of cancer. While clinicians have access to whole-body DXA scanners at most hospitals, portable DXA scanners have become available on the commercial market, and this may allow regional bone and fat scanning. However, it may not be the most reliable for measuring central obesity," she concluded.

The study  provides important confirmation of the role of obesity and particularly insulin resistance in the etiology of several cancers.

"While obesity has previously been linked to cancer risk, the link to lung cancer is new and intriguing," he said in a statement.

 "Increases in insulin, resulting from over-consumption of simple carbohydrates, such as potatoes, wheat, rice, and corn, result in fat accumulation that is specifically visceral and abdominal," Dr explained. Insulin also has detrimental effects on hormone production, and adipose cells in fat tissue increase chronic inflammation throughout the body, another risk factor for several cancers.

"These data open the door for clinicians to initiate a number of interventions in obese patients. In addition to fat loss with diet and exercise, there may be a potential role for a diabetes drug, such as metformin, which can lower insulin effects and contribute to cancer prevention," Dr  said.

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Vitamin in milk could prevent pain caused by chemotherapy

 A vitamin found in milk may be useful for treating or preventing nerve pain caused by chemotherapy drugs, says a study.

For the study, the researchers tested the effect of nicotinamide riboside (NR), a form of vitamin B3, in female rats that were treated with paclitaxel, a chemotherapy commonly used to treat breast and ovarian cancer.

Although chemotherapies have improved cancer survival rates, many of these drugs also cause debilitating side effects that decrease the quality of life of patients and survivors.

In particular, many anti-cancer drugs cause chemotherapy-induced peripheral neuropathy (CIPN) — nerve damage and pain.

“Chemotherapy-induced peripheral neuropathy can both hinder continuation of treatment and persist long after treatment has ended, severely affecting the quality of life of cancer patients,” said study first author Marta Hamity from University of Iowa in the US.

“Our findings support the idea that NR could potentially be used to prevent or mitigate CIPN in cancer patients, resulting in a meaningful improvement in their quality of life and the ability to sustain better and longer treatment,” Hamity said.

The findings, published in the journal Pain, lay the groundwork for testing whether this nutritional supplement can reduce nerve pain in cancer patients receiving chemotherapy.

Nicotinamide riboside boosts levels of an important cell metabolite called nicotinamide adenine dinucleotide (NAD+).

Previous animal studies have shown that increasing NAD+ levels with NR can protect against many types of nerve damage.

The new study found that the NR supplement increased levels of NAD+ in the rats’ blood by about 50 per cent.

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Changes in gene contribute independently to breast and ovarian cancer

Defects in a key gene - long thought to drive cancer by turning off the protection afforded by the well-known BRCA genes - spur cancer growth on their own, according to a study led by researchers from NYU Langone Medical Center.

The study gene, known as EMSY, has some of the same functions as BRCA1 and BRCA2, which are known to protect against breast and ovarian cancer when normal. When defective, BRCA genes block the body's self-defense against cancer-causing genetic mistakes.

The new study, published online Jan. 13 in Oncotarget, helps to explain why some women with healthy BRCA1 and BRCA2 genes develop cancer. The findings may also expand treatment options for the roughly 11 percent of women with breast and ovarian cancer and normal BRCA genes, say the study authors.

"Now that we know exactly how changes in EMSY spur cancer cell growth, we can start to design therapies to specifically target that activity and hopefully stop it," says senior author Douglas Levine, MD, director of the Division of Gynecologic Oncology at NYU Langone and its Perlmutter Cancer Center.

"This work also suggests that treatments that work for patients with BRCA1 or BRCA2 mutations might also be effective against EMSY-driven cancers because the disease mechanism is similar," says first study author Petar Jelinic, PhD, a research assistant professor at NYU Langone. "The best way to go rapidly from bench to bedside is to find new ways to use existing treatments."

When normal, EMSY, BRCA1 and BRCA2 give the body's cells instructions to create proteins that help to repair DNA damage that can cause cancer. When those genes are altered, the repair process fails and cancer grows. Overly active EMSY, like mutated BRCA1 or BRCA2, changes those instructions, so that the DNA damage repair process is blocked.

This new study dispels prior theories that EMSY's activation merely turned off the cancer suppression function of BRCA2, says Jelinic.

Earlier work by Levine and others pointed toward EMSY activation as a culprit in breast and ovarian cancer, but had only examined certain parts of the EMSY protein. The new study was the first to evaluate the full-length EMSY protein and to show that it acts independently of BRCA1 or BRCA2.

Furthermore, the research revealed the part of the EMSY protein is changed by an enzyme called protein kinase A. When there is more active EMSY than normal, this enzyme reacts with the EMSY protein to more thoroughly suppress the DNA repair process.

Breast cancer is the second most common cancer among women in the United States, after skin cancer. Ovarian cancer is the fifth leading cause of cancer death among women, according to the National Cancer Institute.




this is only for your information, kindly take the advice of your doctor for medicines, exercises and so on.
https://gscrochetdesigns.blogspot.com. one can see my crochet creations
https://gseasyrecipes.blogspot.com. feel free to view for easy, simple and healthy recipes 
https://kneereplacement-stickclub.blogspot.com. for info on knee replacement

Defects in a key gene - long thought to drive cancer by turning off the protection afforded by the well-known BRCA genes - spur cancer growth on their own, according to a study led by researchers from NYU Langone Medical Center.

The study gene, known as EMSY, has some of the same functions as BRCA1 and BRCA2, which are known to protect against breast and ovarian cancer when normal. When defective, BRCA genes block the body's self-defense against cancer-causing genetic mistakes.
The new study, published online Jan. 13 in Oncotarget, helps to explain why some women with healthy BRCA1 and BRCA2 genes develop cancer. The findings may also expand treatment options for the roughly 11 percent of women with breast and ovarian cancer and normal BRCA genes, say the study authors.
"Now that we know exactly how changes in EMSY spur cancer cell growth, we can start to design therapies to specifically target that activity and hopefully stop it," says senior author Douglas Levine, MD, director of the Division of Gynecologic Oncology at NYU Langone and its Perlmutter Cancer Center.
"This work also suggests that treatments that work for patients with BRCA1 or BRCA2 mutations might also be effective against EMSY-driven cancers because the disease mechanism is similar," says first study author Petar Jelinic, PhD, a research assistant professor at NYU Langone. "The best way to go rapidly from bench to bedside is to find new ways to use existing treatments."
When normal, EMSY, BRCA1 and BRCA2 give the body's cells instructions to create proteins that help to repair DNA damage that can cause cancer. When those genes are altered, the repair process fails and cancer grows. Overly active EMSY, like mutated BRCA1 or BRCA2, changes those instructions, so that the DNA damage repair process is blocked.
This new study dispels prior theories that EMSY's activation merely turned off the cancer suppression function of BRCA2, says Jelinic.
Earlier work by Levine and others pointed toward EMSY activation as a culprit in breast and ovarian cancer, but had only examined certain parts of the EMSY protein. The new study was the first to evaluate the full-length EMSY protein and to show that it acts independently of BRCA1 or BRCA2.
Furthermore, the research revealed the part of the EMSY protein is changed by an enzyme called protein kinase A. When there is more active EMSY than normal, this enzyme reacts with the EMSY protein to more thoroughly suppress the DNA repair process.
Breast cancer is the second most common cancer among women in the United States, after skin cancer. Ovarian cancer is the fifth leading cause of cancer death among women, according to the National Cancer Institute.


Read more at: https://medicalxpress.com/news/2017-01-gene-contribute-independently-breast-ovarian.html#jCp